Incidental Mutation 'R4918:Baz2b'
| ID |
378365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz2b
|
| Ensembl Gene |
ENSMUSG00000026987 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 2B |
| Synonyms |
D2Ertd794e, 5830435C13Rik |
| MMRRC Submission |
042520-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.287)
|
| Stock # |
R4918 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
59729707-60040183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59744387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1373
(T1373S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090925]
[ENSMUST00000112550]
|
| AlphaFold |
A2AUY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090925
AA Change: T1373S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000088443
Gene: ENSMUSG00000026987
AA Change: T1373S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
685 |
N/A |
INTRINSIC |
|
Pfam:MBD
|
690 |
742 |
1e-12 |
PFAM |
|
low complexity region
|
759 |
774 |
N/A |
INTRINSIC |
|
coiled coil region
|
814 |
975 |
N/A |
INTRINSIC |
|
DDT
|
1004 |
1069 |
1.19e-20 |
SMART |
|
low complexity region
|
1199 |
1212 |
N/A |
INTRINSIC |
|
low complexity region
|
1213 |
1247 |
N/A |
INTRINSIC |
|
coiled coil region
|
1251 |
1286 |
N/A |
INTRINSIC |
|
low complexity region
|
1320 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1503 |
1524 |
N/A |
INTRINSIC |
|
low complexity region
|
1569 |
1582 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1605 |
N/A |
INTRINSIC |
|
Blast:BROMO
|
1802 |
1843 |
7e-18 |
BLAST |
|
PHD
|
1888 |
1934 |
1.71e-12 |
SMART |
|
low complexity region
|
1942 |
1964 |
N/A |
INTRINSIC |
|
low complexity region
|
1968 |
1980 |
N/A |
INTRINSIC |
|
BROMO
|
2013 |
2121 |
3.85e-41 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112550
AA Change: T1373S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108169
Gene: ENSMUSG00000026987
AA Change: T1373S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
685 |
N/A |
INTRINSIC |
|
Pfam:MBD
|
690 |
741 |
3.4e-13 |
PFAM |
|
low complexity region
|
759 |
774 |
N/A |
INTRINSIC |
|
coiled coil region
|
814 |
975 |
N/A |
INTRINSIC |
|
DDT
|
1004 |
1069 |
1.19e-20 |
SMART |
|
low complexity region
|
1199 |
1212 |
N/A |
INTRINSIC |
|
low complexity region
|
1213 |
1247 |
N/A |
INTRINSIC |
|
coiled coil region
|
1251 |
1286 |
N/A |
INTRINSIC |
|
low complexity region
|
1320 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1503 |
1524 |
N/A |
INTRINSIC |
|
low complexity region
|
1569 |
1582 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1605 |
N/A |
INTRINSIC |
|
Pfam:WHIM3
|
1638 |
1676 |
5.1e-14 |
PFAM |
|
Blast:BROMO
|
1802 |
1843 |
7e-18 |
BLAST |
|
PHD
|
1888 |
1934 |
1.71e-12 |
SMART |
|
low complexity region
|
1942 |
1964 |
N/A |
INTRINSIC |
|
low complexity region
|
1968 |
1980 |
N/A |
INTRINSIC |
|
BROMO
|
2013 |
2121 |
3.85e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130637
|
| SMART Domains |
Protein: ENSMUSP00000119690
Gene: ENSMUSG00000026987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WHIM3
|
2 |
37 |
1.8e-13 |
PFAM |
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
PHD
|
214 |
253 |
2.05e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152639
|
| Meta Mutation Damage Score |
0.0607 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
99% (116/117) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,071,377 (GRCm39) |
I1492F |
probably damaging |
Het |
| Ago4 |
A |
C |
4: 126,400,635 (GRCm39) |
C693G |
probably damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,153 (GRCm39) |
E171G |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,492,638 (GRCm39) |
I1258F |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,556 (GRCm39) |
E434G |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,220,806 (GRCm39) |
D324G |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,191,713 (GRCm39) |
V1422E |
probably damaging |
Het |
| Bfsp1 |
C |
T |
2: 143,669,391 (GRCm39) |
R396Q |
probably benign |
Het |
| Bnip1 |
C |
T |
17: 27,002,525 (GRCm39) |
|
probably benign |
Het |
| Bnip5 |
T |
G |
17: 29,127,337 (GRCm39) |
Q224P |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,156,026 (GRCm39) |
|
probably null |
Het |
| Casp8 |
T |
C |
1: 58,866,377 (GRCm39) |
F126S |
probably damaging |
Het |
| Cdh26 |
T |
C |
2: 178,091,614 (GRCm39) |
S58P |
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,506,969 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,276,339 (GRCm39) |
I749T |
possibly damaging |
Het |
| Ddx50 |
A |
T |
10: 62,463,450 (GRCm39) |
C414* |
probably null |
Het |
| Defb42 |
A |
G |
14: 63,285,790 (GRCm39) |
I57V |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,500,296 (GRCm39) |
F943S |
probably damaging |
Het |
| Dhx40 |
G |
T |
11: 86,695,217 (GRCm39) |
H98N |
possibly damaging |
Het |
| Disp2 |
A |
T |
2: 118,620,935 (GRCm39) |
S556C |
probably damaging |
Het |
| Dpysl5 |
T |
G |
5: 30,949,612 (GRCm39) |
F461V |
probably damaging |
Het |
| Efcab11 |
T |
C |
12: 99,685,321 (GRCm39) |
D151G |
probably damaging |
Het |
| Egfem1 |
T |
C |
3: 29,206,042 (GRCm39) |
V93A |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,096,592 (GRCm39) |
D299G |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,287,760 (GRCm39) |
V226A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,023,286 (GRCm39) |
|
probably benign |
Het |
| Fasn |
T |
G |
11: 120,707,472 (GRCm39) |
N799T |
probably benign |
Het |
| Fbxo3 |
T |
G |
2: 103,885,311 (GRCm39) |
N388K |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,873,220 (GRCm39) |
K1287E |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,824,114 (GRCm39) |
V6616I |
possibly damaging |
Het |
| Fut8 |
G |
T |
12: 77,521,818 (GRCm39) |
A486S |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gm10764 |
A |
G |
10: 87,126,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6788 |
C |
T |
19: 28,740,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
C |
14: 43,091,573 (GRCm39) |
N65S |
unknown |
Het |
| Golga4 |
C |
A |
9: 118,387,213 (GRCm39) |
S1445Y |
probably damaging |
Het |
| Gsdmd |
A |
G |
15: 75,736,241 (GRCm39) |
I123M |
probably benign |
Het |
| Hsf4 |
A |
G |
8: 105,999,367 (GRCm39) |
E235G |
probably benign |
Het |
| Ifi206 |
T |
A |
1: 173,309,610 (GRCm39) |
T129S |
possibly damaging |
Het |
| Jakmip1 |
G |
A |
5: 37,248,619 (GRCm39) |
R93Q |
probably damaging |
Het |
| Kcnj1 |
T |
A |
9: 32,308,056 (GRCm39) |
L160Q |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,002,700 (GRCm39) |
E233V |
probably benign |
Het |
| Krt5 |
A |
T |
15: 101,618,742 (GRCm39) |
Y340N |
probably damaging |
Het |
| Krt90 |
T |
A |
15: 101,470,914 (GRCm39) |
H116L |
possibly damaging |
Het |
| Large2 |
A |
G |
2: 92,196,452 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
T |
G |
1: 72,467,938 (GRCm39) |
S365R |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,772,216 (GRCm39) |
T10A |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,959,222 (GRCm39) |
|
probably benign |
Het |
| Mllt1 |
T |
C |
17: 57,206,813 (GRCm39) |
T344A |
probably benign |
Het |
| Mrps28 |
A |
G |
3: 8,947,614 (GRCm39) |
|
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,643,731 (GRCm39) |
L364F |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,392,040 (GRCm39) |
N825S |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,051,284 (GRCm39) |
D47E |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,498,458 (GRCm39) |
I172V |
probably benign |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Nsf |
G |
A |
11: 103,801,185 (GRCm39) |
|
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,995,170 (GRCm39) |
I164N |
possibly damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,344 (GRCm39) |
I172T |
probably damaging |
Het |
| Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
| Or51g2 |
A |
T |
7: 102,622,614 (GRCm39) |
I195N |
possibly damaging |
Het |
| Or5ak20 |
C |
T |
2: 85,183,632 (GRCm39) |
V213I |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,355 (GRCm39) |
I223L |
possibly damaging |
Het |
| Or5bw2 |
C |
T |
7: 6,573,643 (GRCm39) |
L218F |
possibly damaging |
Het |
| Or9g10 |
T |
C |
2: 85,584,465 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
C |
14: 88,705,104 (GRCm39) |
L732R |
probably damaging |
Het |
| Pgbd5 |
C |
A |
8: 125,097,305 (GRCm39) |
K408N |
probably benign |
Het |
| Pip4k2c |
T |
C |
10: 127,035,196 (GRCm39) |
T391A |
possibly damaging |
Het |
| Ppm1k |
T |
A |
6: 57,487,762 (GRCm39) |
N354Y |
probably damaging |
Het |
| Prpf18 |
T |
C |
2: 4,641,981 (GRCm39) |
D186G |
probably benign |
Het |
| Rab3gap1 |
T |
A |
1: 127,816,914 (GRCm39) |
W58R |
possibly damaging |
Het |
| Rbp3 |
T |
C |
14: 33,677,368 (GRCm39) |
Y439H |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,703,601 (GRCm39) |
W1528R |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,612 (GRCm39) |
S781P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,872 (GRCm39) |
V753A |
probably damaging |
Het |
| Schip1 |
A |
T |
3: 68,315,818 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
A |
12: 40,119,373 (GRCm39) |
I552F |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,291,799 (GRCm39) |
N1649S |
probably damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
| Slc20a2 |
C |
T |
8: 23,051,020 (GRCm39) |
S351L |
probably damaging |
Het |
| Slc35e2 |
C |
A |
4: 155,700,693 (GRCm39) |
P272Q |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,243,279 (GRCm39) |
V784A |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,615,096 (GRCm39) |
V334I |
probably benign |
Het |
| Slf2 |
T |
G |
19: 44,960,100 (GRCm39) |
D1022E |
probably damaging |
Het |
| Spag6 |
A |
T |
2: 18,750,360 (GRCm39) |
I469F |
probably benign |
Het |
| Spsb2 |
A |
C |
6: 124,786,711 (GRCm39) |
E148A |
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,888,720 (GRCm39) |
D335G |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,377,623 (GRCm39) |
D109G |
possibly damaging |
Het |
| Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,327,558 (GRCm39) |
I1438S |
probably damaging |
Het |
| Tm4sf1 |
C |
T |
3: 57,200,448 (GRCm39) |
G85S |
probably damaging |
Het |
| Tmem63a |
T |
A |
1: 180,794,086 (GRCm39) |
I541N |
probably benign |
Het |
| Trav6d-4 |
T |
C |
14: 52,991,240 (GRCm39) |
F95S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,589,598 (GRCm39) |
T21219A |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,685,709 (GRCm39) |
Y2278H |
possibly damaging |
Het |
| Usp8 |
A |
T |
2: 126,562,060 (GRCm39) |
K85* |
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,055,967 (GRCm39) |
M724L |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,886,894 (GRCm39) |
I706T |
probably damaging |
Het |
| Zfp512 |
T |
C |
5: 31,634,209 (GRCm39) |
S407P |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,580 (GRCm39) |
I95L |
probably benign |
Het |
|
| Other mutations in Baz2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Baz2b
|
APN |
2 |
59,743,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00476:Baz2b
|
APN |
2 |
59,744,083 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00489:Baz2b
|
APN |
2 |
59,788,019 (GRCm39) |
nonsense |
probably null |
|
|
IGL00514:Baz2b
|
APN |
2 |
59,792,821 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00678:Baz2b
|
APN |
2 |
59,836,527 (GRCm39) |
missense |
unknown |
|
|
IGL01348:Baz2b
|
APN |
2 |
59,764,031 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01354:Baz2b
|
APN |
2 |
59,799,233 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01924:Baz2b
|
APN |
2 |
59,765,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Baz2b
|
APN |
2 |
59,798,984 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02314:Baz2b
|
APN |
2 |
59,792,571 (GRCm39) |
missense |
probably benign |
|
|
IGL02370:Baz2b
|
APN |
2 |
59,753,933 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02473:Baz2b
|
APN |
2 |
59,790,407 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02499:Baz2b
|
APN |
2 |
59,731,840 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02609:Baz2b
|
APN |
2 |
59,747,713 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02705:Baz2b
|
APN |
2 |
59,778,604 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02711:Baz2b
|
APN |
2 |
59,747,849 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02716:Baz2b
|
APN |
2 |
59,792,868 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02724:Baz2b
|
APN |
2 |
59,807,718 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02750:Baz2b
|
APN |
2 |
59,799,002 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02869:Baz2b
|
APN |
2 |
59,807,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02886:Baz2b
|
APN |
2 |
59,788,087 (GRCm39) |
splice site |
probably null |
|
|
IGL02892:Baz2b
|
APN |
2 |
59,731,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03132:Baz2b
|
APN |
2 |
59,738,097 (GRCm39) |
splice site |
probably benign |
|
|
IGL03183:Baz2b
|
APN |
2 |
59,733,640 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03197:Baz2b
|
APN |
2 |
59,731,898 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0054:Baz2b
|
UTSW |
2 |
59,762,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Baz2b
|
UTSW |
2 |
59,762,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Baz2b
|
UTSW |
2 |
59,743,963 (GRCm39) |
splice site |
probably null |
|
|
R0136:Baz2b
|
UTSW |
2 |
59,732,298 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0144:Baz2b
|
UTSW |
2 |
59,737,839 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0403:Baz2b
|
UTSW |
2 |
59,799,721 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0498:Baz2b
|
UTSW |
2 |
59,732,340 (GRCm39) |
unclassified |
probably benign |
|
|
R0528:Baz2b
|
UTSW |
2 |
59,767,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1025:Baz2b
|
UTSW |
2 |
59,792,826 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1470:Baz2b
|
UTSW |
2 |
59,808,890 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1470:Baz2b
|
UTSW |
2 |
59,808,890 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1510:Baz2b
|
UTSW |
2 |
59,752,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Baz2b
|
UTSW |
2 |
59,792,368 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1514:Baz2b
|
UTSW |
2 |
59,792,670 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1519:Baz2b
|
UTSW |
2 |
59,778,598 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1523:Baz2b
|
UTSW |
2 |
59,798,981 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1630:Baz2b
|
UTSW |
2 |
59,836,474 (GRCm39) |
missense |
unknown |
|
|
R1641:Baz2b
|
UTSW |
2 |
59,743,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1674:Baz2b
|
UTSW |
2 |
59,743,336 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1778:Baz2b
|
UTSW |
2 |
59,836,480 (GRCm39) |
missense |
unknown |
|
|
R1826:Baz2b
|
UTSW |
2 |
59,799,077 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1835:Baz2b
|
UTSW |
2 |
59,732,163 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1954:Baz2b
|
UTSW |
2 |
59,799,087 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1981:Baz2b
|
UTSW |
2 |
59,754,024 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2029:Baz2b
|
UTSW |
2 |
59,743,067 (GRCm39) |
unclassified |
probably benign |
|
|
R2567:Baz2b
|
UTSW |
2 |
59,744,255 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2842:Baz2b
|
UTSW |
2 |
59,743,348 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2848:Baz2b
|
UTSW |
2 |
59,755,010 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3809:Baz2b
|
UTSW |
2 |
59,799,240 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3935:Baz2b
|
UTSW |
2 |
59,743,105 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3936:Baz2b
|
UTSW |
2 |
59,743,105 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4072:Baz2b
|
UTSW |
2 |
59,742,917 (GRCm39) |
splice site |
probably null |
|
|
R4182:Baz2b
|
UTSW |
2 |
59,928,801 (GRCm39) |
intron |
probably benign |
|
|
R4255:Baz2b
|
UTSW |
2 |
59,750,916 (GRCm39) |
unclassified |
probably benign |
|
|
R4359:Baz2b
|
UTSW |
2 |
59,731,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4716:Baz2b
|
UTSW |
2 |
59,799,599 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4743:Baz2b
|
UTSW |
2 |
59,744,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4772:Baz2b
|
UTSW |
2 |
59,788,795 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4858:Baz2b
|
UTSW |
2 |
59,738,087 (GRCm39) |
missense |
probably benign |
|
|
R4868:Baz2b
|
UTSW |
2 |
59,755,226 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4872:Baz2b
|
UTSW |
2 |
59,773,103 (GRCm39) |
splice site |
probably null |
|
|
R4889:Baz2b
|
UTSW |
2 |
59,767,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Baz2b
|
UTSW |
2 |
59,756,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4914:Baz2b
|
UTSW |
2 |
59,744,387 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4915:Baz2b
|
UTSW |
2 |
59,744,387 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5027:Baz2b
|
UTSW |
2 |
59,928,988 (GRCm39) |
intron |
probably benign |
|
|
R5031:Baz2b
|
UTSW |
2 |
59,743,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5082:Baz2b
|
UTSW |
2 |
59,731,835 (GRCm39) |
nonsense |
probably null |
|
|
R5133:Baz2b
|
UTSW |
2 |
59,792,368 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5276:Baz2b
|
UTSW |
2 |
59,792,958 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5279:Baz2b
|
UTSW |
2 |
59,762,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Baz2b
|
UTSW |
2 |
59,808,946 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5447:Baz2b
|
UTSW |
2 |
59,744,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5903:Baz2b
|
UTSW |
2 |
59,790,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5910:Baz2b
|
UTSW |
2 |
59,807,770 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6140:Baz2b
|
UTSW |
2 |
59,742,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6195:Baz2b
|
UTSW |
2 |
59,737,855 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6199:Baz2b
|
UTSW |
2 |
59,809,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6208:Baz2b
|
UTSW |
2 |
59,755,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Baz2b
|
UTSW |
2 |
59,737,855 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6276:Baz2b
|
UTSW |
2 |
59,778,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Baz2b
|
UTSW |
2 |
59,737,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Baz2b
|
UTSW |
2 |
59,732,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6578:Baz2b
|
UTSW |
2 |
59,799,623 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6720:Baz2b
|
UTSW |
2 |
59,755,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6760:Baz2b
|
UTSW |
2 |
59,792,776 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6836:Baz2b
|
UTSW |
2 |
59,747,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6859:Baz2b
|
UTSW |
2 |
59,731,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6880:Baz2b
|
UTSW |
2 |
59,743,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6916:Baz2b
|
UTSW |
2 |
59,799,120 (GRCm39) |
missense |
probably benign |
|
|
R6978:Baz2b
|
UTSW |
2 |
59,738,059 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7037:Baz2b
|
UTSW |
2 |
59,764,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7112:Baz2b
|
UTSW |
2 |
59,792,528 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7117:Baz2b
|
UTSW |
2 |
59,742,841 (GRCm39) |
missense |
|
|
|
R7198:Baz2b
|
UTSW |
2 |
59,792,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7270:Baz2b
|
UTSW |
2 |
59,792,836 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7282:Baz2b
|
UTSW |
2 |
59,750,781 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7464:Baz2b
|
UTSW |
2 |
59,807,792 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7609:Baz2b
|
UTSW |
2 |
59,792,817 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7703:Baz2b
|
UTSW |
2 |
59,747,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Baz2b
|
UTSW |
2 |
59,767,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7851:Baz2b
|
UTSW |
2 |
59,767,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7988:Baz2b
|
UTSW |
2 |
59,792,485 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8079:Baz2b
|
UTSW |
2 |
59,731,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Baz2b
|
UTSW |
2 |
59,792,580 (GRCm39) |
missense |
probably benign |
|
|
R8343:Baz2b
|
UTSW |
2 |
59,731,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Baz2b
|
UTSW |
2 |
59,742,137 (GRCm39) |
missense |
|
|
|
R8438:Baz2b
|
UTSW |
2 |
59,747,828 (GRCm39) |
nonsense |
probably null |
|
|
R8448:Baz2b
|
UTSW |
2 |
59,742,137 (GRCm39) |
missense |
|
|
|
R8511:Baz2b
|
UTSW |
2 |
59,732,158 (GRCm39) |
missense |
probably benign |
|
|
R8893:Baz2b
|
UTSW |
2 |
59,755,149 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8947:Baz2b
|
UTSW |
2 |
59,778,583 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8998:Baz2b
|
UTSW |
2 |
59,799,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9241:Baz2b
|
UTSW |
2 |
59,743,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9245:Baz2b
|
UTSW |
2 |
59,743,331 (GRCm39) |
missense |
probably benign |
|
|
R9577:Baz2b
|
UTSW |
2 |
59,809,031 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9581:Baz2b
|
UTSW |
2 |
59,799,300 (GRCm39) |
missense |
probably benign |
|
|
R9601:Baz2b
|
UTSW |
2 |
59,731,847 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9613:Baz2b
|
UTSW |
2 |
59,731,824 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9639:Baz2b
|
UTSW |
2 |
59,731,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0011:Baz2b
|
UTSW |
2 |
59,807,705 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0053:Baz2b
|
UTSW |
2 |
59,731,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Baz2b
|
UTSW |
2 |
59,799,626 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Baz2b
|
UTSW |
2 |
59,790,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Baz2b
|
UTSW |
2 |
59,807,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1188:Baz2b
|
UTSW |
2 |
59,807,749 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGCTGAGGGAACGCTC -3'
(R):5'- ACAGTTTAACTCCATTAGTGGTTTG -3'
Sequencing Primer
(F):5'- AACGCTCCCCAGTGGATG -3'
(R):5'- AACTCCATTAGTGGTTTGTTGTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation