Incidental Mutation 'R8274:Baz2a'
| ID |
637909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baz2a
|
| Ensembl Gene |
ENSMUSG00000040054 |
| Gene Name |
bromodomain adjacent to zinc finger domain, 2A |
| Synonyms |
C030005G16Rik, Walp3, Tip5 |
| MMRRC Submission |
067697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8274 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127957716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1021
(M1021T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000170054]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045621
AA Change: M1020T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: M1020T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
MBD
|
539 |
614 |
3.87e-35 |
SMART |
|
AT_hook
|
639 |
651 |
2.38e0 |
SMART |
|
AT_hook
|
660 |
672 |
1.65e0 |
SMART |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
coiled coil region
|
736 |
776 |
N/A |
INTRINSIC |
|
DDT
|
837 |
902 |
3.75e-18 |
SMART |
|
Pfam:WHIM1
|
939 |
988 |
4.8e-8 |
PFAM |
|
low complexity region
|
1001 |
1013 |
N/A |
INTRINSIC |
|
AT_hook
|
1174 |
1186 |
6.23e1 |
SMART |
|
AT_hook
|
1388 |
1400 |
4.21e0 |
SMART |
|
Pfam:WHIM3
|
1423 |
1464 |
1e-9 |
PFAM |
|
PHD
|
1662 |
1708 |
1.47e-11 |
SMART |
|
low complexity region
|
1741 |
1753 |
N/A |
INTRINSIC |
|
BROMO
|
1773 |
1881 |
7.71e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170054
AA Change: M1021T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: M1021T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
|
MBD
|
540 |
615 |
3.87e-35 |
SMART |
|
AT_hook
|
640 |
652 |
2.38e0 |
SMART |
|
AT_hook
|
661 |
673 |
1.65e0 |
SMART |
|
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
|
coiled coil region
|
737 |
777 |
N/A |
INTRINSIC |
|
DDT
|
838 |
903 |
3.75e-18 |
SMART |
|
Pfam:WHIM1
|
940 |
989 |
4.8e-8 |
PFAM |
|
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
|
AT_hook
|
1175 |
1187 |
6.23e1 |
SMART |
|
AT_hook
|
1389 |
1401 |
4.21e0 |
SMART |
|
Pfam:WHIM3
|
1424 |
1462 |
5.5e-19 |
PFAM |
|
PHD
|
1663 |
1709 |
1.47e-11 |
SMART |
|
low complexity region
|
1742 |
1754 |
N/A |
INTRINSIC |
|
BROMO
|
1774 |
1882 |
7.71e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
C |
11: 3,844,964 (GRCm39) |
T42A |
possibly damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,181 (GRCm39) |
V294A |
probably benign |
Het |
| Ahr |
A |
C |
12: 35,560,068 (GRCm39) |
V195G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,430,718 (GRCm39) |
I1022N |
probably benign |
Het |
| Arsk |
A |
T |
13: 76,220,303 (GRCm39) |
C264S |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,570,098 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
C |
A |
6: 136,537,988 (GRCm39) |
T407K |
probably benign |
Het |
| Axl |
A |
G |
7: 25,463,438 (GRCm39) |
I613T |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,861 (GRCm39) |
V765A |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,839,432 (GRCm39) |
Y1323H |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,799,029 (GRCm39) |
G1794V |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,960,453 (GRCm39) |
M3321V |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,160,612 (GRCm39) |
S65P |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,551 (GRCm39) |
S157P |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,017,531 (GRCm39) |
H1500L |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,324,722 (GRCm39) |
A772V |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,288,786 (GRCm39) |
K246* |
probably null |
Het |
| Fbxl9 |
T |
A |
8: 106,042,166 (GRCm39) |
I221F |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,267,338 (GRCm39) |
N527S |
probably benign |
Het |
| Gpr157 |
C |
T |
4: 150,172,500 (GRCm39) |
T97M |
probably damaging |
Het |
| Gpt2 |
T |
C |
8: 86,242,853 (GRCm39) |
L295P |
probably benign |
Het |
| Grm8 |
T |
A |
6: 27,761,335 (GRCm39) |
K296N |
probably benign |
Het |
| Gss |
T |
A |
2: 155,429,424 (GRCm39) |
I23L |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,159,230 (GRCm39) |
V442A |
possibly damaging |
Het |
| Hoxa3 |
C |
A |
6: 52,147,524 (GRCm39) |
R243L |
unknown |
Het |
| Junb |
T |
A |
8: 85,705,058 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,910,987 (GRCm39) |
I514T |
probably damaging |
Het |
| Kif11 |
C |
A |
19: 37,391,994 (GRCm39) |
T463N |
probably damaging |
Het |
| Lmf2 |
C |
T |
15: 89,236,866 (GRCm39) |
G459S |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,250 (GRCm39) |
T85A |
possibly damaging |
Het |
| Myo9b |
G |
A |
8: 71,812,480 (GRCm39) |
A2084T |
probably benign |
Het |
| Oog4 |
T |
A |
4: 143,166,459 (GRCm39) |
|
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,795 (GRCm39) |
H57Q |
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ptprk |
G |
T |
10: 28,456,408 (GRCm39) |
R1056L |
probably damaging |
Het |
| Rfx2 |
C |
T |
17: 57,111,348 (GRCm39) |
A75T |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,632,548 (GRCm39) |
T441A |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,925,830 (GRCm39) |
V292A |
probably benign |
Het |
| Smok2a |
G |
A |
17: 13,445,781 (GRCm39) |
A453T |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,422,738 (GRCm39) |
V427A |
probably damaging |
Het |
| Tmem208 |
T |
G |
8: 106,055,257 (GRCm39) |
I106S |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,299,230 (GRCm39) |
|
probably benign |
Het |
| Trav9-2 |
G |
T |
14: 53,828,810 (GRCm39) |
R60L |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,853,089 (GRCm39) |
K624E |
probably benign |
Het |
| Zfp318 |
A |
T |
17: 46,723,915 (GRCm39) |
M1973L |
probably benign |
Het |
|
| Other mutations in Baz2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Baz2a
|
APN |
10 |
127,960,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00501:Baz2a
|
APN |
10 |
127,950,494 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00743:Baz2a
|
APN |
10 |
127,950,395 (GRCm39) |
missense |
probably benign |
|
|
IGL01362:Baz2a
|
APN |
10 |
127,957,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01394:Baz2a
|
APN |
10 |
127,954,514 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01603:Baz2a
|
APN |
10 |
127,947,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02165:Baz2a
|
APN |
10 |
127,955,218 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02732:Baz2a
|
APN |
10 |
127,961,044 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03030:Baz2a
|
APN |
10 |
127,961,015 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03087:Baz2a
|
APN |
10 |
127,958,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0255:Baz2a
|
UTSW |
10 |
127,950,508 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0737:Baz2a
|
UTSW |
10 |
127,951,949 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0742:Baz2a
|
UTSW |
10 |
127,949,535 (GRCm39) |
nonsense |
probably null |
|
|
R0755:Baz2a
|
UTSW |
10 |
127,955,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0798:Baz2a
|
UTSW |
10 |
127,962,192 (GRCm39) |
splice site |
probably benign |
|
|
R0879:Baz2a
|
UTSW |
10 |
127,957,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1023:Baz2a
|
UTSW |
10 |
127,957,676 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1482:Baz2a
|
UTSW |
10 |
127,944,877 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1512:Baz2a
|
UTSW |
10 |
127,960,021 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1658:Baz2a
|
UTSW |
10 |
127,960,252 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1983:Baz2a
|
UTSW |
10 |
127,959,828 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2059:Baz2a
|
UTSW |
10 |
127,949,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2141:Baz2a
|
UTSW |
10 |
127,959,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2921:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
|
R2922:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
|
R3104:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
|
R3105:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
|
R3106:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
|
R3621:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
|
R3872:Baz2a
|
UTSW |
10 |
127,959,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Baz2a
|
UTSW |
10 |
127,959,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Baz2a
|
UTSW |
10 |
127,959,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Baz2a
|
UTSW |
10 |
127,957,052 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4692:Baz2a
|
UTSW |
10 |
127,960,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Baz2a
|
UTSW |
10 |
127,960,811 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4821:Baz2a
|
UTSW |
10 |
127,946,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4832:Baz2a
|
UTSW |
10 |
127,958,999 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4893:Baz2a
|
UTSW |
10 |
127,959,284 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4907:Baz2a
|
UTSW |
10 |
127,946,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5133:Baz2a
|
UTSW |
10 |
127,951,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Baz2a
|
UTSW |
10 |
127,950,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Baz2a
|
UTSW |
10 |
127,960,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Baz2a
|
UTSW |
10 |
127,955,559 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5891:Baz2a
|
UTSW |
10 |
127,957,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Baz2a
|
UTSW |
10 |
127,950,511 (GRCm39) |
small deletion |
probably benign |
|
|
R6089:Baz2a
|
UTSW |
10 |
127,950,511 (GRCm39) |
small deletion |
probably benign |
|
|
R6323:Baz2a
|
UTSW |
10 |
127,962,286 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6894:Baz2a
|
UTSW |
10 |
127,959,450 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7101:Baz2a
|
UTSW |
10 |
127,957,056 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7178:Baz2a
|
UTSW |
10 |
127,960,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7179:Baz2a
|
UTSW |
10 |
127,960,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7202:Baz2a
|
UTSW |
10 |
127,954,428 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7223:Baz2a
|
UTSW |
10 |
127,948,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Baz2a
|
UTSW |
10 |
127,960,090 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7426:Baz2a
|
UTSW |
10 |
127,951,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Baz2a
|
UTSW |
10 |
127,957,942 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7568:Baz2a
|
UTSW |
10 |
127,961,139 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7672:Baz2a
|
UTSW |
10 |
127,959,726 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7948:Baz2a
|
UTSW |
10 |
127,961,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7993:Baz2a
|
UTSW |
10 |
127,961,491 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8013:Baz2a
|
UTSW |
10 |
127,961,161 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8013:Baz2a
|
UTSW |
10 |
127,961,157 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9034:Baz2a
|
UTSW |
10 |
127,952,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9070:Baz2a
|
UTSW |
10 |
127,958,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9245:Baz2a
|
UTSW |
10 |
127,957,812 (GRCm39) |
missense |
probably benign |
|
|
R9329:Baz2a
|
UTSW |
10 |
127,960,925 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9472:Baz2a
|
UTSW |
10 |
127,948,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF016:Baz2a
|
UTSW |
10 |
127,961,185 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTTGAAGGCCGACTCC -3'
(R):5'- ATCTGCACAGAAACAAGCGG -3'
Sequencing Primer
(F):5'- CGGAGGTAGGGACAGGAC -3'
(R):5'- TTGAGAAAGGAGAGCTACCAGATCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation