Incidental Mutation 'R5192:Babam1'
| ID |
405092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Babam1
|
| Ensembl Gene |
ENSMUSG00000031820 |
| Gene Name |
BRISC and BRCA1 A complex member 1 |
| Synonyms |
5430437P03Rik |
| MMRRC Submission |
042768-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R5192 (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 C
at 71856897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 286
(V286A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002473]
[ENSMUST00000119976]
[ENSMUST00000120725]
|
| AlphaFold |
Q3UI43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002473
AA Change: V286A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: V286A
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Becn2 |
A |
G |
1: 175,748,408 (GRCm39) |
D158G |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,968,075 (GRCm39) |
I853T |
probably benign |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,925,185 (GRCm39) |
T3883A |
possibly damaging |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9988 |
T |
C |
8: 88,865,001 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,922,259 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,675,894 (GRCm39) |
K214N |
probably benign |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrh1 |
T |
C |
6: 129,748,721 (GRCm39) |
T99A |
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,262,752 (GRCm39) |
H735R |
possibly damaging |
Het |
| Myo1g |
T |
C |
11: 6,464,816 (GRCm39) |
D486G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,400,101 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,029,207 (GRCm39) |
Y536H |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Tmtc2 |
G |
A |
10: 105,026,038 (GRCm39) |
P810L |
probably damaging |
Het |
| Tollip |
C |
T |
7: 141,445,854 (GRCm39) |
R9H |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,077,363 (GRCm39) |
S268T |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,120,497 (GRCm39) |
V472A |
possibly damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,569 (GRCm39) |
K790N |
probably damaging |
Het |
| Zfp661 |
A |
G |
2: 127,418,982 (GRCm39) |
V386A |
possibly 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 |
|
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 |
|
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'- GTGGCCACTCTAGATGTCACTTC -3'
(R):5'- TAATAGTGTGCCTGCGCTCTC -3'
Sequencing Primer
(F):5'- ACTCTAGATGTCACTTCCTCTGGG -3'
(R):5'- GCCTGCGCTCTCCTCATAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation