Incidental Mutation 'IGL03267:Babam1'
| ID |
415129 |
| 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 essential
(E-score: 0.528)
|
| Stock # |
IGL03267
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71849505-71857263 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 71855708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002473]
[ENSMUST00000119976]
[ENSMUST00000120725]
|
| AlphaFold |
Q3UI43 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002473
|
| SMART Domains |
Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
| 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: ENSMUST00000119976
|
| SMART Domains |
Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
6 |
35 |
7.52e2 |
SMART |
|
ANK
|
39 |
71 |
4.01e0 |
SMART |
|
ANK
|
75 |
104 |
2.37e-2 |
SMART |
|
ANK
|
108 |
139 |
1.99e2 |
SMART |
|
low complexity region
|
177 |
193 |
N/A |
INTRINSIC |
|
Pfam:LEM
|
282 |
319 |
4.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120725
|
| SMART Domains |
Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
6 |
35 |
7.52e2 |
SMART |
|
ANK
|
39 |
71 |
4.01e0 |
SMART |
|
ANK
|
75 |
104 |
2.37e-2 |
SMART |
|
ANK
|
108 |
139 |
1.99e2 |
SMART |
|
low complexity region
|
157 |
173 |
N/A |
INTRINSIC |
|
Pfam:LEM
|
261 |
300 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212087
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213093
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
C |
T |
5: 121,775,412 (GRCm39) |
R430Q |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,467,630 (GRCm39) |
I1857F |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,490,050 (GRCm39) |
M345L |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,627,654 (GRCm39) |
F711S |
probably damaging |
Het |
| Btrc |
A |
G |
19: 45,507,262 (GRCm39) |
E458G |
probably damaging |
Het |
| Car6 |
T |
C |
4: 150,280,503 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,713,724 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,845,930 (GRCm39) |
V3A |
possibly damaging |
Het |
| Ddc |
T |
C |
11: 11,826,303 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 138,990,599 (GRCm39) |
R188* |
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,008,545 (GRCm39) |
A2046S |
probably benign |
Het |
| Duxf4 |
T |
C |
10: 58,071,609 (GRCm39) |
T202A |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,350,003 (GRCm39) |
S20T |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,789,993 (GRCm39) |
C916* |
probably null |
Het |
| Fam78a |
T |
C |
2: 31,959,679 (GRCm39) |
I144V |
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,164,943 (GRCm39) |
|
probably benign |
Het |
| Il9r |
T |
A |
11: 32,141,778 (GRCm39) |
H320L |
possibly damaging |
Het |
| Kntc1 |
C |
T |
5: 123,896,543 (GRCm39) |
T135M |
probably damaging |
Het |
| Lca5l |
T |
A |
16: 95,960,983 (GRCm39) |
Q498L |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,971,457 (GRCm39) |
H70R |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,406,856 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
G |
T |
2: 36,760,513 (GRCm39) |
A312S |
probably benign |
Het |
| Or4k5 |
A |
G |
14: 50,386,304 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,978 (GRCm39) |
Y259* |
probably null |
Het |
| Pik3cg |
C |
A |
12: 32,255,307 (GRCm39) |
G227C |
possibly damaging |
Het |
| Ptprn2 |
C |
T |
12: 116,839,964 (GRCm39) |
Q496* |
probably null |
Het |
| Rif1 |
T |
G |
2: 51,967,000 (GRCm39) |
N96K |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 38,116,169 (GRCm39) |
D1176A |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,315,322 (GRCm39) |
I436T |
probably benign |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Spata31e5 |
G |
A |
1: 28,816,202 (GRCm39) |
T610I |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,864,686 (GRCm39) |
C1950R |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,013,813 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
G |
A |
3: 100,852,120 (GRCm39) |
R1009* |
probably null |
Het |
| Wfdc16 |
A |
G |
2: 164,480,462 (GRCm39) |
V11A |
possibly damaging |
Het |
| Zfp367 |
A |
G |
13: 64,292,097 (GRCm39) |
|
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,574,908 (GRCm39) |
R376H |
probably damaging |
Het |
|
| Other mutations in Babam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01368:Babam1
|
APN |
8 |
71,851,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation