Incidental Mutation 'IGL01368:Babam1'
| ID |
76022 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Babam1
|
| Ensembl Gene |
ENSMUSG00000031820 |
| Gene Name |
BRISC and BRCA1 A complex member 1 |
| Synonyms |
5430437P03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
IGL01368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71849505-71857263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71851050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 104
(D104E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002473]
[ENSMUST00000049184]
[ENSMUST00000212626]
|
| AlphaFold |
Q3UI43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002473
AA Change: D104E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: D104E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049184
|
| SMART Domains |
Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
coiled coil region
|
179 |
218 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
288 |
352 |
1.3e-29 |
PFAM |
|
Blast:HOLI
|
467 |
623 |
2e-24 |
BLAST |
|
coiled coil region
|
628 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213093
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
A |
14: 103,288,770 (GRCm39) |
D93E |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,411 (GRCm39) |
Y566C |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,370,063 (GRCm39) |
|
probably benign |
Het |
| Bcl2a1a |
T |
A |
9: 88,839,500 (GRCm39) |
W133R |
probably damaging |
Het |
| Ckm |
C |
T |
7: 19,150,712 (GRCm39) |
Q184* |
probably null |
Het |
| Clk4 |
T |
A |
11: 51,171,999 (GRCm39) |
Y246* |
probably null |
Het |
| Cyp3a57 |
T |
C |
5: 145,305,878 (GRCm39) |
S121P |
probably damaging |
Het |
| Eif1ad15 |
C |
T |
12: 88,287,858 (GRCm39) |
D132N |
unknown |
Het |
| Gm8011 |
T |
C |
14: 42,287,831 (GRCm39) |
|
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,367,451 (GRCm39) |
F434S |
probably benign |
Het |
| Gpr158 |
G |
T |
2: 21,831,909 (GRCm39) |
W1003L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,010 (GRCm39) |
E34G |
probably damaging |
Het |
| Igkv16-104 |
G |
T |
6: 68,402,594 (GRCm39) |
R2S |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,041,215 (GRCm39) |
F395L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,924,905 (GRCm39) |
T1161S |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,257,299 (GRCm39) |
S217P |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,142,848 (GRCm39) |
N687K |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,105,381 (GRCm39) |
I295V |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,948,450 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,829 (GRCm39) |
E104G |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,476 (GRCm39) |
V297D |
probably damaging |
Het |
| Prss1l |
A |
G |
6: 41,373,620 (GRCm39) |
D161G |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,618 (GRCm39) |
D229G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,665,610 (GRCm39) |
T153A |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,766,862 (GRCm39) |
V127I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,751,694 (GRCm39) |
S214L |
possibly damaging |
Het |
| Tmem63a |
T |
C |
1: 180,797,797 (GRCm39) |
V616A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,612 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
A |
G |
17: 20,996,774 (GRCm39) |
L248P |
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,945 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Babam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03267:Babam1
|
APN |
8 |
71,855,708 (GRCm39) |
critical splice donor site |
probably null |
|
|
I2288:Babam1
|
UTSW |
8 |
71,850,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Babam1
|
UTSW |
8 |
71,851,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Babam1
|
UTSW |
8 |
71,852,277 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1559:Babam1
|
UTSW |
8 |
71,850,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1740:Babam1
|
UTSW |
8 |
71,855,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2143:Babam1
|
UTSW |
8 |
71,851,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Babam1
|
UTSW |
8 |
71,855,515 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4639:Babam1
|
UTSW |
8 |
71,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4892:Babam1
|
UTSW |
8 |
71,855,696 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4935:Babam1
|
UTSW |
8 |
71,852,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4965:Babam1
|
UTSW |
8 |
71,857,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5192:Babam1
|
UTSW |
8 |
71,856,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5836:Babam1
|
UTSW |
8 |
71,855,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6340:Babam1
|
UTSW |
8 |
71,855,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7356:Babam1
|
UTSW |
8 |
71,852,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7967:Babam1
|
UTSW |
8 |
71,856,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Babam1
|
UTSW |
8 |
71,850,629 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9301:Babam1
|
UTSW |
8 |
71,855,684 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Babam1
|
UTSW |
8 |
71,852,207 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2013-10-07 |
Incidental Mutation