Incidental Mutation 'R2762:Baiap3'
| ID |
254127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baiap3
|
| Ensembl Gene |
ENSMUSG00000047507 |
| Gene Name |
BAI1-associated protein 3 |
| Synonyms |
LOC381076 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25461633-25475255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25463549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 909
(L909P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038973]
[ENSMUST00000063574]
[ENSMUST00000115154]
[ENSMUST00000169109]
[ENSMUST00000182056]
[ENSMUST00000182435]
[ENSMUST00000182825]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038973
|
| SMART Domains |
Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
69 |
152 |
1.4e-10 |
PFAM |
|
DMAP_binding
|
176 |
278 |
2.55e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063574
|
| SMART Domains |
Protein: ENSMUSP00000068511
Gene: ENSMUSG00000015126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RLI
|
58 |
92 |
8.2e-17 |
PFAM |
|
Pfam:DUF367
|
96 |
222 |
1.3e-56 |
PFAM |
|
low complexity region
|
261 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115154
|
| SMART Domains |
Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
69 |
151 |
3.9e-11 |
PFAM |
|
DMAP_binding
|
183 |
285 |
2.55e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169109
AA Change: L922P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: L922P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
159 |
328 |
4.73e-17 |
SMART |
|
low complexity region
|
361 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
896 |
958 |
8e-10 |
PFAM |
|
C2
|
989 |
1097 |
7.06e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175461
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182056
AA Change: L945P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: L945P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
159 |
328 |
4.73e-17 |
SMART |
|
low complexity region
|
361 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
851 |
959 |
3.3e-30 |
PFAM |
|
C2
|
989 |
1097 |
7.06e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182126
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182435
AA Change: L917P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: L917P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
131 |
300 |
4.73e-17 |
SMART |
|
low complexity region
|
333 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
676 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
823 |
931 |
3.2e-30 |
PFAM |
|
C2
|
961 |
1069 |
7.06e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182825
AA Change: L909P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: L909P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
159 |
284 |
4.05e-16 |
SMART |
|
low complexity region
|
325 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
668 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
815 |
923 |
3.2e-30 |
PFAM |
|
C2
|
953 |
1061 |
7.06e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182696
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile but exhibit increased PTZ-induced seizure propensity, as well as increased novelty-induced anxiety in both genders, with a more pronounced effect in females, and a faster developmentof tolerance to benzodiazepines in male mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
A |
12: 112,748,984 (GRCm39) |
T288S |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
| Dusp3 |
T |
C |
11: 101,865,661 (GRCm39) |
T178A |
probably benign |
Het |
| En2 |
T |
C |
5: 28,375,419 (GRCm39) |
S321P |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,323 (GRCm39) |
S146L |
probably benign |
Het |
| Gm9923 |
C |
A |
10: 72,145,460 (GRCm39) |
H104N |
probably benign |
Het |
| Igtp |
A |
G |
11: 58,096,891 (GRCm39) |
M21V |
possibly damaging |
Het |
| Irs2 |
T |
C |
8: 11,056,408 (GRCm39) |
S675G |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,596,713 (GRCm39) |
L138Q |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,749,936 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
A |
G |
17: 3,746,433 (GRCm39) |
V35A |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,899,956 (GRCm39) |
D274G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,056,486 (GRCm39) |
G4349S |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,645,234 (GRCm39) |
S1073R |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,237,451 (GRCm39) |
K77E |
possibly damaging |
Het |
| Prss1 |
T |
C |
6: 41,440,215 (GRCm39) |
V184A |
possibly damaging |
Het |
| Rnf111 |
T |
A |
9: 70,383,327 (GRCm39) |
H202L |
possibly damaging |
Het |
| S100pbp |
G |
A |
4: 129,049,219 (GRCm39) |
R308* |
probably null |
Het |
| Sgcb |
A |
T |
5: 73,793,052 (GRCm39) |
|
probably null |
Het |
| Spam1 |
T |
C |
6: 24,796,642 (GRCm39) |
F198L |
possibly damaging |
Het |
| Tbc1d4 |
A |
C |
14: 101,731,797 (GRCm39) |
C472G |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,514,820 (GRCm39) |
N1128S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,628,447 (GRCm39) |
R14571Q |
probably damaging |
Het |
| Tubb4a |
T |
A |
17: 57,387,974 (GRCm39) |
T351S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Wasl |
T |
C |
6: 24,619,500 (GRCm39) |
Y340C |
unknown |
Het |
|
| Other mutations in Baiap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Baiap3
|
APN |
17 |
25,463,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00486:Baiap3
|
APN |
17 |
25,467,351 (GRCm39) |
splice site |
probably benign |
|
|
IGL00820:Baiap3
|
APN |
17 |
25,467,664 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01443:Baiap3
|
APN |
17 |
25,464,121 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02282:Baiap3
|
APN |
17 |
25,468,351 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02341:Baiap3
|
APN |
17 |
25,467,290 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02669:Baiap3
|
APN |
17 |
25,463,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Baiap3
|
APN |
17 |
25,463,476 (GRCm39) |
splice site |
probably benign |
|
|
IGL02993:Baiap3
|
APN |
17 |
25,469,056 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0021:Baiap3
|
UTSW |
17 |
25,462,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Baiap3
|
UTSW |
17 |
25,469,044 (GRCm39) |
splice site |
probably benign |
|
|
R0276:Baiap3
|
UTSW |
17 |
25,462,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0488:Baiap3
|
UTSW |
17 |
25,467,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0826:Baiap3
|
UTSW |
17 |
25,464,203 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0883:Baiap3
|
UTSW |
17 |
25,468,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Baiap3
|
UTSW |
17 |
25,468,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Baiap3
|
UTSW |
17 |
25,463,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2336:Baiap3
|
UTSW |
17 |
25,469,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4454:Baiap3
|
UTSW |
17 |
25,468,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Baiap3
|
UTSW |
17 |
25,465,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Baiap3
|
UTSW |
17 |
25,469,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Baiap3
|
UTSW |
17 |
25,466,269 (GRCm39) |
splice site |
probably benign |
|
|
R4979:Baiap3
|
UTSW |
17 |
25,465,336 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5069:Baiap3
|
UTSW |
17 |
25,468,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5070:Baiap3
|
UTSW |
17 |
25,468,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5093:Baiap3
|
UTSW |
17 |
25,469,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Baiap3
|
UTSW |
17 |
25,464,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5566:Baiap3
|
UTSW |
17 |
25,470,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Baiap3
|
UTSW |
17 |
25,470,449 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5681:Baiap3
|
UTSW |
17 |
25,468,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Baiap3
|
UTSW |
17 |
25,466,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5743:Baiap3
|
UTSW |
17 |
25,463,759 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5805:Baiap3
|
UTSW |
17 |
25,466,489 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6038:Baiap3
|
UTSW |
17 |
25,465,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Baiap3
|
UTSW |
17 |
25,465,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Baiap3
|
UTSW |
17 |
25,467,444 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6238:Baiap3
|
UTSW |
17 |
25,464,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6700:Baiap3
|
UTSW |
17 |
25,463,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Baiap3
|
UTSW |
17 |
25,462,814 (GRCm39) |
missense |
probably benign |
|
|
R7038:Baiap3
|
UTSW |
17 |
25,462,814 (GRCm39) |
missense |
probably benign |
|
|
R7039:Baiap3
|
UTSW |
17 |
25,462,814 (GRCm39) |
missense |
probably benign |
|
|
R7126:Baiap3
|
UTSW |
17 |
25,464,119 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7198:Baiap3
|
UTSW |
17 |
25,462,814 (GRCm39) |
missense |
probably benign |
|
|
R7223:Baiap3
|
UTSW |
17 |
25,462,814 (GRCm39) |
missense |
probably benign |
|
|
R7291:Baiap3
|
UTSW |
17 |
25,463,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Baiap3
|
UTSW |
17 |
25,468,082 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7687:Baiap3
|
UTSW |
17 |
25,468,311 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7877:Baiap3
|
UTSW |
17 |
25,470,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8172:Baiap3
|
UTSW |
17 |
25,463,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Baiap3
|
UTSW |
17 |
25,467,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8230:Baiap3
|
UTSW |
17 |
25,465,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8240:Baiap3
|
UTSW |
17 |
25,464,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8394:Baiap3
|
UTSW |
17 |
25,469,096 (GRCm39) |
missense |
probably benign |
|
|
R8972:Baiap3
|
UTSW |
17 |
25,466,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9274:Baiap3
|
UTSW |
17 |
25,463,354 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9333:Baiap3
|
UTSW |
17 |
25,467,676 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9388:Baiap3
|
UTSW |
17 |
25,466,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0017:Baiap3
|
UTSW |
17 |
25,467,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Baiap3
|
UTSW |
17 |
25,463,742 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTGCTTCATAATGACACCG -3'
(R):5'- ACCTGAGGGATGGAAGCTAC -3'
Sequencing Primer
(F):5'- TTCATAATGACACCGGACAGTCAGG -3'
(R):5'- TACAAGGTGAGCGAGCCTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation