Incidental Mutation 'R5915:Babam2'
| ID |
461249 |
| 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 |
044112-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.678)
|
| Stock # |
R5915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31855394-32242083 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31942955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 80
(L80Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063813]
[ENSMUST00000071531]
[ENSMUST00000114507]
[ENSMUST00000114515]
[ENSMUST00000131995]
[ENSMUST00000200705]
[ENSMUST00000201352]
[ENSMUST00000202293]
|
| AlphaFold |
Q8K3W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063813
AA Change: L117Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: L117Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRE
|
70 |
370 |
3.4e-133 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071531
AA Change: L71Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: L71Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRE
|
28 |
324 |
2.2e-204 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114507
AA Change: L16Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: L16Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRE
|
3 |
269 |
9.5e-182 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114515
AA Change: L80Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139
AA Change: L80Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRE
|
1 |
333 |
4.9e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131995
|
| SMART Domains |
Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRE
|
1 |
195 |
4.3e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200705
AA Change: L80Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143964
Gene: ENSMUSG00000052139
AA Change: L80Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRE
|
8 |
204 |
1.6e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202270
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201352
AA Change: L80Q
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139
AA Change: L80Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRE
|
8 |
333 |
8.1e-146 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201202
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202293
|
| Meta Mutation Damage Score |
0.7330 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,550,748 (GRCm39) |
|
probably null |
Het |
| Alox12e |
T |
C |
11: 70,209,050 (GRCm39) |
I399V |
possibly damaging |
Het |
| Apoa5 |
C |
A |
9: 46,180,607 (GRCm39) |
Q42K |
probably damaging |
Het |
| Arfgap1 |
A |
G |
2: 180,620,215 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Arhgap12 |
A |
G |
18: 6,037,016 (GRCm39) |
|
probably null |
Het |
| Arl16 |
G |
A |
11: 120,357,431 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,370,577 (GRCm39) |
D951G |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,822,176 (GRCm39) |
V1714I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,914,550 (GRCm39) |
R1141H |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,252,775 (GRCm39) |
L351P |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,405,829 (GRCm39) |
|
probably benign |
Het |
| Dpy30 |
G |
T |
17: 74,622,906 (GRCm39) |
D25E |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,935,152 (GRCm39) |
W998R |
probably damaging |
Het |
| Fibp |
A |
G |
19: 5,513,644 (GRCm39) |
D220G |
possibly damaging |
Het |
| Grm3 |
C |
T |
5: 9,561,927 (GRCm39) |
C641Y |
probably damaging |
Het |
| Gulo |
A |
T |
14: 66,245,570 (GRCm39) |
V8D |
probably benign |
Het |
| Ifrd1 |
A |
T |
12: 40,263,095 (GRCm39) |
C164S |
possibly damaging |
Het |
| Jam2 |
G |
A |
16: 84,606,295 (GRCm39) |
S103N |
probably benign |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,444 (GRCm39) |
T108A |
unknown |
Het |
| Man2a2 |
A |
G |
7: 80,010,669 (GRCm39) |
F774S |
probably benign |
Het |
| Map1b |
G |
A |
13: 99,566,839 (GRCm39) |
R1961W |
unknown |
Het |
| Mib2 |
A |
G |
4: 155,740,508 (GRCm39) |
|
probably benign |
Het |
| Mr1 |
A |
T |
1: 155,012,534 (GRCm39) |
F127I |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,554 (GRCm39) |
I57T |
probably benign |
Het |
| Ncan |
G |
T |
8: 70,550,731 (GRCm39) |
Y1154* |
probably null |
Het |
| Nfx1 |
T |
A |
4: 40,977,285 (GRCm39) |
S320T |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,335,369 (GRCm39) |
L740P |
probably damaging |
Het |
| Nprl2 |
T |
C |
9: 107,422,277 (GRCm39) |
|
probably benign |
Het |
| Opn1sw |
A |
G |
6: 29,379,754 (GRCm39) |
|
probably null |
Het |
| Or5bw2 |
A |
T |
7: 6,573,172 (GRCm39) |
I61F |
probably benign |
Het |
| Palld |
A |
G |
8: 61,986,386 (GRCm39) |
|
probably null |
Het |
| Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,433,549 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
T |
7: 109,977,303 (GRCm39) |
C610* |
probably null |
Het |
| Sec24a |
C |
T |
11: 51,646,964 (GRCm39) |
A13T |
probably benign |
Het |
| Smim8 |
TCTCCTC |
TCTC |
4: 34,769,010 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
A |
C |
17: 25,786,443 (GRCm39) |
L420R |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,612 (GRCm39) |
Q349H |
unknown |
Het |
| Sspo |
A |
G |
6: 48,441,530 (GRCm39) |
D1889G |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,468,418 (GRCm39) |
H4382L |
possibly damaging |
Het |
| Tmem65 |
T |
C |
15: 58,662,037 (GRCm39) |
I141V |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,301,400 (GRCm39) |
T1329S |
probably benign |
Het |
| Trim17 |
C |
T |
11: 58,859,388 (GRCm39) |
R201W |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,182 (GRCm39) |
L399P |
possibly damaging |
Het |
| Trim7 |
A |
G |
11: 48,736,477 (GRCm39) |
D277G |
possibly damaging |
Het |
| Vstm2b |
A |
G |
7: 40,552,107 (GRCm39) |
N153S |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,231,561 (GRCm39) |
Q786K |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,154,720 (GRCm39) |
*286W |
probably null |
Het |
| Xpot |
A |
T |
10: 121,450,998 (GRCm39) |
L134Q |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,982,466 (GRCm39) |
Q20* |
probably null |
Het |
| Zfp599 |
C |
T |
9: 22,161,130 (GRCm39) |
C345Y |
probably damaging |
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 |
|
|
R5982:Babam2
|
UTSW |
5 |
31,977,964 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6271:Babam2
|
UTSW |
5 |
32,158,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTGTTCATGGAGCTGCCTC -3'
(R):5'- GTTGCATTTATTCCACAGAAAGGG -3'
Sequencing Primer
(F):5'- CCTCCTGGGTATTTATAGTCACAGTG -3'
(R):5'- GGAAAACCACGTTTGACTAAGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation