Incidental Mutation 'R0765:Baiap2l1'
| ID |
72602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Baiap2l1
|
| Ensembl Gene |
ENSMUSG00000038859 |
| Gene Name |
BAI1-associated protein 2-like 1 |
| Synonyms |
1300006M19Rik, IRTKS |
| MMRRC Submission |
038945-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144201336-144294922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 144214513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 394
(P394T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055190]
[ENSMUST00000155491]
|
| AlphaFold |
Q9DBJ3 |
| PDB Structure |
Solution Structure of RSGI RUH-010, an SH3 Domain from Mouse cDNA [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055190
AA Change: P394T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053129
Gene: ENSMUSG00000038859
AA Change: P394T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
16 |
236 |
4.4e-65 |
PFAM |
|
SH3
|
343 |
402 |
1.42e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155491
|
| SMART Domains |
Protein: ENSMUSP00000122016
Gene: ENSMUSG00000047843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2367
|
27 |
90 |
1.1e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198873
|
| Meta Mutation Damage Score |
0.9570 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating glucose and insulin levels, impaired glucose tolerance and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,827 (GRCm39) |
V425D |
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,687,097 (GRCm39) |
I381L |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,066,518 (GRCm39) |
L4496F |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,822,344 (GRCm39) |
E724K |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,214,070 (GRCm39) |
|
probably null |
Het |
| Btbd8 |
T |
A |
5: 107,654,800 (GRCm39) |
D354E |
probably benign |
Het |
| Cnbp |
C |
A |
6: 87,822,155 (GRCm39) |
C122F |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,375,811 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
G |
14: 31,247,994 (GRCm39) |
D408A |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,917,824 (GRCm39) |
S259T |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,220 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
C |
A |
13: 55,630,107 (GRCm39) |
V112F |
probably damaging |
Het |
| Dcc |
T |
A |
18: 71,496,061 (GRCm39) |
D1028V |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,681,318 (GRCm39) |
V32A |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,587,703 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
C |
T |
7: 27,885,136 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,759,987 (GRCm39) |
M208K |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,048,876 (GRCm39) |
I430V |
probably benign |
Het |
| Elovl2 |
T |
C |
13: 41,340,942 (GRCm39) |
Y181C |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,700,655 (GRCm39) |
Q225R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,080,004 (GRCm39) |
R332Q |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,886,429 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,684,538 (GRCm39) |
T344M |
probably damaging |
Het |
| Il1rap |
T |
G |
16: 26,529,382 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,356,055 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,339,814 (GRCm39) |
K289N |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,921,624 (GRCm39) |
G240V |
probably benign |
Het |
| Lrp10 |
G |
T |
14: 54,705,547 (GRCm39) |
D246Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,269 (GRCm39) |
V167I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,776,608 (GRCm39) |
S347P |
probably damaging |
Het |
| Mybph |
T |
C |
1: 134,125,234 (GRCm39) |
V254A |
possibly damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,408,073 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,350,505 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,027,184 (GRCm39) |
Y189H |
probably damaging |
Het |
| Or4c52 |
G |
A |
2: 89,846,014 (GRCm39) |
V247I |
probably benign |
Het |
| Or51t4 |
C |
T |
7: 102,597,939 (GRCm39) |
T79I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,749,049 (GRCm39) |
L260P |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,348,648 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
T |
C |
1: 106,320,013 (GRCm39) |
L1336P |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,818,734 (GRCm39) |
T9A |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,313,921 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
T |
7: 46,349,071 (GRCm39) |
V281E |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,030,879 (GRCm39) |
Q186* |
probably null |
Het |
| Slc6a2 |
A |
G |
8: 93,715,659 (GRCm39) |
T266A |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,623,507 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,446,706 (GRCm39) |
P365S |
possibly damaging |
Het |
| Tmem127 |
C |
A |
2: 127,099,069 (GRCm39) |
T201K |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,862,195 (GRCm39) |
V409G |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,723,969 (GRCm39) |
T165I |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,680,771 (GRCm39) |
F4916L |
possibly damaging |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,467 (GRCm39) |
M68V |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,119 (GRCm39) |
D235G |
probably damaging |
Het |
| Vmn2r-ps134 |
C |
T |
17: 23,665,015 (GRCm39) |
|
noncoding transcript |
Het |
| Zdbf2 |
G |
A |
1: 63,344,882 (GRCm39) |
S1087N |
possibly damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,693 (GRCm39) |
P659S |
probably damaging |
Het |
|
| Other mutations in Baiap2l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00789:Baiap2l1
|
APN |
5 |
144,222,879 (GRCm39) |
splice site |
probably null |
|
|
IGL00789:Baiap2l1
|
APN |
5 |
144,222,356 (GRCm39) |
nonsense |
probably null |
|
|
IGL00922:Baiap2l1
|
APN |
5 |
144,255,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Baiap2l1
|
APN |
5 |
144,212,723 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01603:Baiap2l1
|
APN |
5 |
144,217,625 (GRCm39) |
intron |
probably benign |
|
|
IGL02748:Baiap2l1
|
APN |
5 |
144,203,415 (GRCm39) |
intron |
probably benign |
|
|
IGL03348:Baiap2l1
|
APN |
5 |
144,215,341 (GRCm39) |
missense |
probably benign |
0.08 |
|
PIT4382001:Baiap2l1
|
UTSW |
5 |
144,215,480 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0066:Baiap2l1
|
UTSW |
5 |
144,221,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Baiap2l1
|
UTSW |
5 |
144,221,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Baiap2l1
|
UTSW |
5 |
144,212,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Baiap2l1
|
UTSW |
5 |
144,202,820 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0469:Baiap2l1
|
UTSW |
5 |
144,212,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Baiap2l1
|
UTSW |
5 |
144,203,451 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0755:Baiap2l1
|
UTSW |
5 |
144,221,367 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1051:Baiap2l1
|
UTSW |
5 |
144,222,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Baiap2l1
|
UTSW |
5 |
144,261,365 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3889:Baiap2l1
|
UTSW |
5 |
144,215,345 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4451:Baiap2l1
|
UTSW |
5 |
144,215,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Baiap2l1
|
UTSW |
5 |
144,215,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Baiap2l1
|
UTSW |
5 |
144,218,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5523:Baiap2l1
|
UTSW |
5 |
144,212,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Baiap2l1
|
UTSW |
5 |
144,217,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5586:Baiap2l1
|
UTSW |
5 |
144,218,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5603:Baiap2l1
|
UTSW |
5 |
144,202,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5735:Baiap2l1
|
UTSW |
5 |
144,223,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:Baiap2l1
|
UTSW |
5 |
144,218,898 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6572:Baiap2l1
|
UTSW |
5 |
144,223,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Baiap2l1
|
UTSW |
5 |
144,222,916 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6981:Baiap2l1
|
UTSW |
5 |
144,222,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7218:Baiap2l1
|
UTSW |
5 |
144,212,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7352:Baiap2l1
|
UTSW |
5 |
144,261,436 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7662:Baiap2l1
|
UTSW |
5 |
144,294,700 (GRCm39) |
intron |
probably benign |
|
|
R7797:Baiap2l1
|
UTSW |
5 |
144,255,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7981:Baiap2l1
|
UTSW |
5 |
144,294,700 (GRCm39) |
intron |
probably benign |
|
|
R8170:Baiap2l1
|
UTSW |
5 |
144,214,502 (GRCm39) |
nonsense |
probably null |
|
|
R8308:Baiap2l1
|
UTSW |
5 |
144,214,487 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8333:Baiap2l1
|
UTSW |
5 |
144,217,691 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8673:Baiap2l1
|
UTSW |
5 |
144,212,852 (GRCm39) |
intron |
probably benign |
|
|
R8976:Baiap2l1
|
UTSW |
5 |
144,223,117 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9187:Baiap2l1
|
UTSW |
5 |
144,217,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0022:Baiap2l1
|
UTSW |
5 |
144,215,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCGAGCGTCGAAGGTGAATC -3'
(R):5'- AGGGATCTGTTCTCTCCGTCCAGC -3'
Sequencing Primer
(F):5'- CGTCGAAGGTGAATCCCAGG -3'
(R):5'- AGGATGTCCCCAAGTACTAGTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation