Incidental Mutation 'R4892:Babam1'
| ID |
377344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Babam1
|
| Ensembl Gene |
ENSMUSG00000031820 |
| Gene Name |
BRISC and BRCA1 A complex member 1 |
| Synonyms |
5430437P03Rik |
| MMRRC Submission |
042497-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R4892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71849505-71857263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71855696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 263
(M263K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002473]
[ENSMUST00000119976]
[ENSMUST00000120725]
|
| AlphaFold |
Q3UI43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002473
AA Change: M263K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: M263K
| 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 |
noncoding transcript
Transcript: ENSMUST00000212383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213093
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
| Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
| Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
| Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
| Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
| Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
| Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
| Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
| Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
| Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
| Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
| Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
| Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
| Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGCCCATGAAGGTGAG -3'
(R):5'- GGATACAGCTGGGGAATGTC -3'
Sequencing Primer
(F):5'- CCATGAAGGTGAGCCTGG -3'
(R):5'- TACAGCTGGGGAATGTCAGGAATAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation