Incidental Mutation 'R4639:Babam1'
| ID |
350832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Babam1
|
| Ensembl Gene |
ENSMUSG00000031820 |
| Gene Name |
BRISC and BRCA1 A complex member 1 |
| Synonyms |
5430437P03Rik |
| MMRRC Submission |
041901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R4639 (G1)
|
| Quality Score |
166 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71849505-71857263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71856951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 304
(A304V)
|
| 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: A304V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
AA Change: A304V
| 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: ENSMUST00000213093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212383
|
| Meta Mutation Damage Score |
0.4213 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
A |
C |
12: 5,068,053 (GRCm39) |
H1017P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,813,317 (GRCm39) |
V943D |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,220,413 (GRCm39) |
A584D |
probably damaging |
Het |
| Ddx21 |
A |
T |
10: 62,427,616 (GRCm39) |
L429* |
probably null |
Het |
| Dsp |
T |
C |
13: 38,380,760 (GRCm39) |
Y2502H |
probably damaging |
Het |
| Eaf1 |
G |
A |
14: 31,226,333 (GRCm39) |
D206N |
probably benign |
Het |
| Fam43b |
T |
A |
4: 138,123,278 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,044,889 (GRCm39) |
K34I |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,056,525 (GRCm39) |
Y191H |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm10479 |
A |
G |
12: 20,483,343 (GRCm39) |
T55A |
probably damaging |
Het |
| Gsr |
T |
G |
8: 34,187,284 (GRCm39) |
I488M |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,232,377 (GRCm39) |
M517T |
possibly damaging |
Het |
| Naip1 |
C |
G |
13: 100,580,791 (GRCm39) |
G152A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,565,234 (GRCm39) |
T449I |
probably benign |
Het |
| Nin |
A |
G |
12: 70,085,375 (GRCm39) |
S1619P |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,175,969 (GRCm39) |
M1I |
probably null |
Het |
| Or5m9b |
A |
G |
2: 85,905,923 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,479,439 (GRCm39) |
T448A |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,519,930 (GRCm39) |
|
probably null |
Het |
| Pnp |
C |
T |
14: 51,188,380 (GRCm39) |
R207* |
probably null |
Het |
| Ppl |
A |
G |
16: 4,907,310 (GRCm39) |
V995A |
probably damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,276,406 (GRCm39) |
T33I |
probably damaging |
Het |
| Pramel20 |
C |
T |
4: 143,298,467 (GRCm39) |
R137C |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rgs16 |
G |
T |
1: 153,617,781 (GRCm39) |
C97F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,444,717 (GRCm39) |
D2254E |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,381,597 (GRCm39) |
M495V |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,082,724 (GRCm39) |
I1967V |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,800 (GRCm39) |
D13G |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,205,011 (GRCm39) |
I2V |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,638,410 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,505,279 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGATCATCCTGAACAGCCCG -3'
(R):5'- AGTGAGCCCAAAGTGACACC -3'
Sequencing Primer
(F):5'- ATCCTGAACAGCCCGCAGTG -3'
(R):5'- CAGGGACCTCAGATTTTTATTCCGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation