Incidental Mutation 'R4676:BC034090'
| ID |
349544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| MMRRC Submission |
042013-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4676 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155102010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 85
(Y85H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035914]
[ENSMUST00000186156]
[ENSMUST00000187096]
|
| AlphaFold |
A0A087WP46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035914
AA Change: Y85H
PolyPhen 2
Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: Y85H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:DUF4685
|
44 |
168 |
6.6e-57 |
PFAM |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
652 |
N/A |
INTRINSIC |
|
PDZ
|
830 |
905 |
4.8e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186156
AA Change: Y447H
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: Y447H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
446 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
PDZ
|
1123 |
1198 |
2.2e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187096
AA Change: Y85H
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: Y85H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190976
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (93/95) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
A |
1: 120,078,382 (GRCm39) |
I13N |
probably damaging |
Het |
| Abcd3 |
T |
A |
3: 121,567,815 (GRCm39) |
T409S |
possibly damaging |
Het |
| Acad12 |
C |
A |
5: 121,745,234 (GRCm39) |
W317L |
probably damaging |
Het |
| Acap1 |
T |
A |
11: 69,780,294 (GRCm39) |
M50L |
probably benign |
Het |
| Acvr1b |
T |
A |
15: 101,100,867 (GRCm39) |
V343E |
probably damaging |
Het |
| Adgb |
C |
A |
10: 10,302,454 (GRCm39) |
G371W |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,082,774 (GRCm39) |
K1966R |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,114,515 (GRCm39) |
Q48* |
probably null |
Het |
| Ano10 |
T |
C |
9: 122,092,853 (GRCm39) |
R159G |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,517,983 (GRCm39) |
M128V |
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,228,416 (GRCm39) |
C554* |
probably null |
Het |
| Atf6 |
T |
C |
1: 170,614,979 (GRCm39) |
Y538C |
probably damaging |
Het |
| Atp8b1 |
A |
C |
18: 64,671,749 (GRCm39) |
D1091E |
probably benign |
Het |
| Bcas2 |
A |
G |
3: 103,083,017 (GRCm39) |
|
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,211,056 (GRCm39) |
N463D |
probably damaging |
Het |
| Capn7 |
A |
T |
14: 31,081,216 (GRCm39) |
H411L |
possibly damaging |
Het |
| Cavin3 |
T |
C |
7: 105,130,320 (GRCm39) |
E164G |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,759,536 (GRCm39) |
|
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,830,368 (GRCm39) |
V858A |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,383,685 (GRCm39) |
|
probably benign |
Het |
| Commd6 |
T |
C |
14: 101,877,720 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,505,341 (GRCm39) |
L2157I |
probably damaging |
Het |
| Cspg4b |
T |
G |
13: 113,505,342 (GRCm39) |
L2157R |
probably damaging |
Het |
| Cul3 |
G |
A |
1: 80,249,391 (GRCm39) |
L561F |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,524,761 (GRCm39) |
I131N |
probably damaging |
Het |
| Dlgap3 |
T |
A |
4: 127,127,554 (GRCm39) |
Y741N |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,179,794 (GRCm39) |
V265A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,295,406 (GRCm39) |
I1380F |
possibly damaging |
Het |
| Dync1h1 |
G |
T |
12: 110,628,975 (GRCm39) |
L4177F |
probably damaging |
Het |
| Ethe1 |
G |
A |
7: 24,307,319 (GRCm39) |
V178M |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,153 (GRCm39) |
|
probably null |
Het |
| Get3 |
C |
T |
8: 85,745,502 (GRCm39) |
A219T |
probably benign |
Het |
| Glt8d1 |
T |
C |
14: 30,728,649 (GRCm39) |
F26L |
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,054 (GRCm39) |
D63E |
probably benign |
Het |
| Gm9996 |
T |
A |
10: 29,019,834 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,947,266 (GRCm39) |
S629R |
possibly damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,447,462 (GRCm39) |
S381P |
probably damaging |
Het |
| Igsf10 |
A |
C |
3: 59,233,370 (GRCm39) |
F1788V |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,642,864 (GRCm39) |
P935Q |
probably damaging |
Het |
| Itch |
A |
C |
2: 155,041,355 (GRCm39) |
I468L |
probably benign |
Het |
| Itga5 |
A |
T |
15: 103,265,637 (GRCm39) |
Y192N |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,643,643 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,640,906 (GRCm39) |
Q302L |
probably null |
Het |
| Kctd17 |
T |
A |
15: 78,319,959 (GRCm39) |
|
probably benign |
Het |
| Lsm1 |
T |
C |
8: 26,283,717 (GRCm39) |
L43P |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,923,141 (GRCm39) |
M1192K |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,322,817 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,483,606 (GRCm39) |
V597A |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,477,855 (GRCm39) |
F63Y |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,573,788 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,416,427 (GRCm39) |
T45S |
possibly damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,149,654 (GRCm39) |
R420S |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,309,736 (GRCm39) |
D317G |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,666,955 (GRCm39) |
|
probably benign |
Het |
| Or9i16 |
C |
T |
19: 13,864,765 (GRCm39) |
D270N |
probably damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,838 (GRCm39) |
I46F |
possibly damaging |
Het |
| Pde5a |
A |
T |
3: 122,541,542 (GRCm39) |
M11L |
possibly damaging |
Het |
| Plxnb1 |
G |
A |
9: 108,939,503 (GRCm39) |
R1416Q |
possibly damaging |
Het |
| Polm |
A |
T |
11: 5,785,749 (GRCm39) |
Y141* |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,612,975 (GRCm39) |
F32L |
probably damaging |
Het |
| Scrt1 |
T |
A |
15: 76,405,868 (GRCm39) |
D13V |
possibly damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,834,871 (GRCm39) |
V79E |
possibly damaging |
Het |
| Snurf |
T |
C |
7: 59,645,270 (GRCm39) |
Q48R |
probably benign |
Het |
| Srek1 |
T |
C |
13: 103,894,695 (GRCm39) |
|
probably benign |
Het |
| Stxbp5l |
T |
C |
16: 37,076,246 (GRCm39) |
S267G |
probably damaging |
Het |
| Taf5 |
C |
T |
19: 47,063,409 (GRCm39) |
R320W |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,660,403 (GRCm39) |
N106K |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,781,531 (GRCm39) |
L207Q |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,501 (GRCm39) |
E849G |
probably damaging |
Het |
| Tedc2 |
T |
C |
17: 24,438,985 (GRCm39) |
T111A |
probably benign |
Het |
| Tfg |
T |
A |
16: 56,514,854 (GRCm39) |
|
probably null |
Het |
| Tgds |
A |
T |
14: 118,353,643 (GRCm39) |
S225T |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,852,671 (GRCm39) |
Y134* |
probably null |
Het |
| Trappc1 |
T |
A |
11: 69,216,356 (GRCm39) |
V134D |
probably damaging |
Het |
| Ttc3 |
C |
A |
16: 94,243,620 (GRCm39) |
P853Q |
probably damaging |
Het |
| Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
| Ttf1 |
A |
G |
2: 28,964,606 (GRCm39) |
S643G |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,700,171 (GRCm39) |
S338T |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,067,007 (GRCm39) |
I271T |
possibly damaging |
Het |
| Vipas39 |
T |
A |
12: 87,288,075 (GRCm39) |
Y445F |
probably damaging |
Het |
| Vmn1r31 |
A |
C |
6: 58,448,998 (GRCm39) |
I289S |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,685 (GRCm39) |
E551G |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,093,854 (GRCm39) |
Y446* |
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,251,526 (GRCm39) |
H124Q |
probably damaging |
Het |
|
| Other mutations in BC034090 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:BC034090
|
APN |
1 |
155,101,193 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00159:BC034090
|
APN |
1 |
155,101,197 (GRCm39) |
nonsense |
probably null |
|
|
IGL00481:BC034090
|
APN |
1 |
155,108,267 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01309:BC034090
|
APN |
1 |
155,102,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01813:BC034090
|
APN |
1 |
155,102,085 (GRCm39) |
nonsense |
probably null |
|
|
IGL01938:BC034090
|
APN |
1 |
155,108,338 (GRCm39) |
splice site |
probably null |
|
|
IGL01982:BC034090
|
APN |
1 |
155,099,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02115:BC034090
|
APN |
1 |
155,108,397 (GRCm39) |
intron |
probably benign |
|
|
IGL02338:BC034090
|
APN |
1 |
155,093,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:BC034090
|
APN |
1 |
155,100,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03243:BC034090
|
APN |
1 |
155,101,401 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03290:BC034090
|
APN |
1 |
155,101,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
BB014:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
R0055:BC034090
|
UTSW |
1 |
155,117,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:BC034090
|
UTSW |
1 |
155,101,662 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1649:BC034090
|
UTSW |
1 |
155,101,319 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1710:BC034090
|
UTSW |
1 |
155,101,610 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1819:BC034090
|
UTSW |
1 |
155,101,575 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1969:BC034090
|
UTSW |
1 |
155,100,972 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1996:BC034090
|
UTSW |
1 |
155,097,340 (GRCm39) |
unclassified |
probably benign |
|
|
R2012:BC034090
|
UTSW |
1 |
155,097,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2133:BC034090
|
UTSW |
1 |
155,101,532 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3426:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3427:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3428:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3782:BC034090
|
UTSW |
1 |
155,102,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:BC034090
|
UTSW |
1 |
155,117,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4234:BC034090
|
UTSW |
1 |
155,117,326 (GRCm39) |
missense |
probably benign |
|
|
R4373:BC034090
|
UTSW |
1 |
155,101,904 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4377:BC034090
|
UTSW |
1 |
155,108,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4661:BC034090
|
UTSW |
1 |
155,108,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4729:BC034090
|
UTSW |
1 |
155,100,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:BC034090
|
UTSW |
1 |
155,089,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:BC034090
|
UTSW |
1 |
155,102,160 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5382:BC034090
|
UTSW |
1 |
155,101,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5384:BC034090
|
UTSW |
1 |
155,117,773 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5576:BC034090
|
UTSW |
1 |
155,117,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5891:BC034090
|
UTSW |
1 |
155,108,793 (GRCm39) |
unclassified |
probably benign |
|
|
R6060:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6092:BC034090
|
UTSW |
1 |
155,100,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6662:BC034090
|
UTSW |
1 |
155,102,085 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6736:BC034090
|
UTSW |
1 |
155,117,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6903:BC034090
|
UTSW |
1 |
155,097,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6970:BC034090
|
UTSW |
1 |
155,117,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:BC034090
|
UTSW |
1 |
155,117,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:BC034090
|
UTSW |
1 |
155,117,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7265:BC034090
|
UTSW |
1 |
155,101,073 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7380:BC034090
|
UTSW |
1 |
155,108,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:BC034090
|
UTSW |
1 |
155,102,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:BC034090
|
UTSW |
1 |
155,093,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7587:BC034090
|
UTSW |
1 |
155,093,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:BC034090
|
UTSW |
1 |
155,117,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:BC034090
|
UTSW |
1 |
155,117,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7782:BC034090
|
UTSW |
1 |
155,108,410 (GRCm39) |
intron |
probably benign |
|
|
R7927:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
R8079:BC034090
|
UTSW |
1 |
155,101,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:BC034090
|
UTSW |
1 |
155,117,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:BC034090
|
UTSW |
1 |
155,097,085 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8832:BC034090
|
UTSW |
1 |
155,102,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:BC034090
|
UTSW |
1 |
155,101,964 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8879:BC034090
|
UTSW |
1 |
155,102,103 (GRCm39) |
missense |
probably benign |
|
|
R9004:BC034090
|
UTSW |
1 |
155,102,138 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9036:BC034090
|
UTSW |
1 |
155,117,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9141:BC034090
|
UTSW |
1 |
155,108,474 (GRCm39) |
intron |
probably benign |
|
|
R9293:BC034090
|
UTSW |
1 |
155,101,518 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9348:BC034090
|
UTSW |
1 |
155,099,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9440:BC034090
|
UTSW |
1 |
155,101,961 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9477:BC034090
|
UTSW |
1 |
155,102,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:BC034090
|
UTSW |
1 |
155,099,135 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9700:BC034090
|
UTSW |
1 |
155,101,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:BC034090
|
UTSW |
1 |
155,117,955 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0002:BC034090
|
UTSW |
1 |
155,102,025 (GRCm39) |
nonsense |
probably null |
|
|
Z1187:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGAAGTTACTCTGGTCCAG -3'
(R):5'- GGCACACTGGTTATCCTCTC -3'
Sequencing Primer
(F):5'- AAGTTACTCTGGTCCAGGCAGC -3'
(R):5'- GTCTCTTCACTAGAAATGGCCAGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation