Incidental Mutation 'R6271:Babam2'
ID |
507327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Babam2
|
Ensembl Gene |
ENSMUSG00000052139 |
Gene Name |
BRISC and BRCA1 A complex member 2 |
Synonyms |
B830038C02Rik, 6030405P19Rik, Bre |
MMRRC Submission |
044379-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.678)
|
Stock # |
R6271 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31855394-32242083 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 32158706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 219
(A219S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063813]
[ENSMUST00000071531]
[ENSMUST00000114507]
[ENSMUST00000114515]
[ENSMUST00000131995]
[ENSMUST00000200705]
[ENSMUST00000201352]
|
AlphaFold |
Q8K3W0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063813
AA Change: A265S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069133 Gene: ENSMUSG00000052139 AA Change: A265S
Domain | Start | End | E-Value | Type |
Pfam:BRE
|
70 |
370 |
3.4e-133 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071531
AA Change: A219S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071462 Gene: ENSMUSG00000052139 AA Change: A219S
Domain | Start | End | E-Value | Type |
Pfam:BRE
|
28 |
324 |
2.2e-204 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114507
AA Change: A164S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110152 Gene: ENSMUSG00000052139 AA Change: A164S
Domain | Start | End | E-Value | Type |
Pfam:BRE
|
3 |
269 |
9.5e-182 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114515
AA Change: A228S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110160 Gene: ENSMUSG00000052139 AA Change: A228S
Domain | Start | End | E-Value | Type |
Pfam:BRE
|
1 |
333 |
4.9e-235 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131995
AA Change: A90S
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128351 Gene: ENSMUSG00000052139 AA Change: A90S
Domain | Start | End | E-Value | Type |
Pfam:BRE
|
1 |
195 |
4.3e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200705
|
SMART Domains |
Protein: ENSMUSP00000143964 Gene: ENSMUSG00000052139
Domain | Start | End | E-Value | Type |
Pfam:BRE
|
8 |
204 |
1.6e-72 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201352
AA Change: A228S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144205 Gene: ENSMUSG00000052139 AA Change: A228S
Domain | Start | End | E-Value | Type |
Pfam:BRE
|
8 |
333 |
8.1e-146 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201542
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016] PHENOTYPE: Mice homozygous for a knock-out allele are fertile. However, fibroblasts exhibit decreased proliferation and increased cellular replicative senescence in response to irradiation and hydrogen peroxide with impaired DNA damage repair. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
G |
T |
4: 132,792,035 (GRCm39) |
C1092F |
possibly damaging |
Het |
Aplf |
T |
C |
6: 87,623,230 (GRCm39) |
E304G |
possibly damaging |
Het |
Atp12a |
A |
G |
14: 56,615,879 (GRCm39) |
D547G |
probably benign |
Het |
B3gat2 |
T |
C |
1: 23,854,342 (GRCm39) |
L212P |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,322,753 (GRCm39) |
S618R |
possibly damaging |
Het |
Ces2c |
G |
A |
8: 105,578,748 (GRCm39) |
G342D |
probably damaging |
Het |
Cfap57 |
A |
C |
4: 118,452,956 (GRCm39) |
D582E |
probably benign |
Het |
Cisd2 |
T |
C |
3: 135,114,627 (GRCm39) |
N115D |
possibly damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,661,159 (GRCm39) |
F42L |
probably benign |
Het |
Fam234a |
T |
C |
17: 26,437,211 (GRCm39) |
D156G |
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,513,767 (GRCm39) |
I1554K |
probably benign |
Het |
Fv1 |
A |
G |
4: 147,954,474 (GRCm39) |
T347A |
possibly damaging |
Het |
Gm5134 |
T |
A |
10: 75,831,643 (GRCm39) |
C361S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,792,516 (GRCm39) |
I406V |
probably benign |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Ifna13 |
A |
C |
4: 88,562,082 (GRCm39) |
L181V |
possibly damaging |
Het |
Irx4 |
A |
G |
13: 73,414,713 (GRCm39) |
|
probably null |
Het |
Kcna3 |
T |
A |
3: 106,944,922 (GRCm39) |
M395K |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 23,559,957 (GRCm39) |
V347D |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,822,698 (GRCm39) |
V218E |
probably benign |
Het |
Krt36 |
G |
A |
11: 99,995,298 (GRCm39) |
Q167* |
probably null |
Het |
Lama2 |
T |
C |
10: 26,899,325 (GRCm39) |
D2457G |
possibly damaging |
Het |
Ldah |
G |
A |
12: 8,318,599 (GRCm39) |
|
probably null |
Het |
Lhfpl3 |
G |
T |
5: 22,951,242 (GRCm39) |
A18S |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,956,851 (GRCm39) |
|
probably null |
Het |
Ltv1 |
T |
C |
10: 13,055,445 (GRCm39) |
Y352C |
probably damaging |
Het |
Lyst |
G |
T |
13: 13,833,339 (GRCm39) |
M1720I |
probably benign |
Het |
Mkx |
A |
T |
18: 6,937,059 (GRCm39) |
|
probably null |
Het |
Myo18a |
A |
G |
11: 77,711,635 (GRCm39) |
H626R |
probably damaging |
Het |
Nop9 |
A |
C |
14: 55,991,198 (GRCm39) |
Q618H |
probably damaging |
Het |
Or12k5 |
T |
C |
2: 36,895,554 (GRCm39) |
Q24R |
probably damaging |
Het |
Or4c12b |
T |
C |
2: 89,646,906 (GRCm39) |
S73P |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
Or8c9 |
T |
C |
9: 38,241,578 (GRCm39) |
S232P |
probably benign |
Het |
Otog |
C |
A |
7: 45,901,464 (GRCm39) |
Q388K |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Oxct2b |
T |
G |
4: 123,011,508 (GRCm39) |
V476G |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,126,202 (GRCm39) |
T329A |
probably benign |
Het |
Pcdhga5 |
T |
C |
18: 37,829,735 (GRCm39) |
S728P |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,221,671 (GRCm39) |
H574Q |
probably damaging |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Preb |
C |
A |
5: 31,115,395 (GRCm39) |
V255F |
probably damaging |
Het |
Prmt9 |
A |
G |
8: 78,304,092 (GRCm39) |
N725S |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,544,765 (GRCm39) |
|
probably null |
Het |
Semp2l1 |
T |
A |
1: 32,584,572 (GRCm39) |
D446V |
probably damaging |
Het |
Serinc3 |
G |
C |
2: 163,472,896 (GRCm39) |
L245V |
probably benign |
Het |
Sgce |
T |
C |
6: 4,730,015 (GRCm39) |
K70E |
possibly damaging |
Het |
Simc1 |
T |
G |
13: 54,687,537 (GRCm39) |
V102G |
probably damaging |
Het |
Slc66a3 |
T |
C |
12: 17,047,704 (GRCm39) |
D76G |
probably damaging |
Het |
Smyd2 |
A |
G |
1: 189,616,049 (GRCm39) |
Y362H |
probably damaging |
Het |
Sptbn1 |
G |
T |
11: 30,050,660 (GRCm39) |
H2310N |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,184,652 (GRCm39) |
Y4077C |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,937,155 (GRCm39) |
A251E |
probably damaging |
Het |
Taok1 |
A |
T |
11: 77,464,609 (GRCm39) |
L159Q |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Timeless |
T |
C |
10: 128,086,593 (GRCm39) |
L1043P |
probably damaging |
Het |
Tmprss3 |
T |
C |
17: 31,405,536 (GRCm39) |
E352G |
probably damaging |
Het |
Trav6-4 |
A |
T |
14: 53,692,039 (GRCm39) |
T46S |
probably benign |
Het |
Ubiad1 |
A |
T |
4: 148,521,083 (GRCm39) |
Y180* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,686,263 (GRCm39) |
E627G |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,283,145 (GRCm39) |
T280A |
probably benign |
Het |
|
Other mutations in Babam2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00844:Babam2
|
APN |
5 |
32,164,651 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01815:Babam2
|
APN |
5 |
31,859,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02869:Babam2
|
APN |
5 |
32,162,116 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03091:Babam2
|
APN |
5 |
31,943,022 (GRCm39) |
splice site |
probably null |
|
IGL03185:Babam2
|
APN |
5 |
31,859,376 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1817:Babam2
|
UTSW |
5 |
32,214,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R4012:Babam2
|
UTSW |
5 |
32,158,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R4257:Babam2
|
UTSW |
5 |
31,859,414 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4522:Babam2
|
UTSW |
5 |
32,164,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R4622:Babam2
|
UTSW |
5 |
32,164,656 (GRCm39) |
missense |
probably damaging |
0.99 |
R4738:Babam2
|
UTSW |
5 |
32,058,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R4752:Babam2
|
UTSW |
5 |
31,859,391 (GRCm39) |
intron |
probably benign |
|
R4927:Babam2
|
UTSW |
5 |
31,859,408 (GRCm39) |
missense |
probably benign |
0.00 |
R4962:Babam2
|
UTSW |
5 |
31,942,927 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5374:Babam2
|
UTSW |
5 |
32,164,574 (GRCm39) |
splice site |
probably benign |
|
R5375:Babam2
|
UTSW |
5 |
31,859,207 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5453:Babam2
|
UTSW |
5 |
32,164,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R5890:Babam2
|
UTSW |
5 |
32,222,151 (GRCm39) |
intron |
probably benign |
|
R5915:Babam2
|
UTSW |
5 |
31,942,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R5982:Babam2
|
UTSW |
5 |
31,977,964 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7268:Babam2
|
UTSW |
5 |
31,859,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Babam2
|
UTSW |
5 |
32,164,594 (GRCm39) |
nonsense |
probably null |
|
R7422:Babam2
|
UTSW |
5 |
31,888,393 (GRCm39) |
splice site |
probably null |
|
R9182:Babam2
|
UTSW |
5 |
32,058,401 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9336:Babam2
|
UTSW |
5 |
31,859,194 (GRCm39) |
start codon destroyed |
possibly damaging |
0.77 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCTGTGTGATACCATCTTGAG -3'
(R):5'- GGCACACAAACCATGAGCTG -3'
Sequencing Primer
(F):5'- CTGTGTGATACCATCTTGAGTTGTTC -3'
(R):5'- CTGACAGCTGTTGCAGGGTAC -3'
|
Posted On |
2018-03-15 |