Incidental Mutation 'R5157:Igsf21'
ID |
396771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf21
|
Ensembl Gene |
ENSMUSG00000040972 |
Gene Name |
immunoglobulin superfamily, member 21 |
Synonyms |
LOC230868 |
MMRRC Submission |
042739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R5157 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139754157-139974095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139755378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 426
(T426A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039331]
|
AlphaFold |
Q7TNR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039331
AA Change: T426A
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000046558 Gene: ENSMUSG00000040972 AA Change: T426A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG
|
31 |
141 |
1.93e-5 |
SMART |
IG
|
348 |
431 |
2.38e0 |
SMART |
|
Meta Mutation Damage Score |
0.2255 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal differentiation of inhibitory synapses with decreased mIPSC frequency and prepulse inhibition. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,627,096 (GRCm39) |
R1266C |
probably damaging |
Het |
Adap2 |
T |
C |
11: 80,047,772 (GRCm39) |
F76S |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,274,710 (GRCm39) |
H747L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,109,222 (GRCm39) |
V670D |
probably damaging |
Het |
Ap4e1 |
A |
G |
2: 126,903,615 (GRCm39) |
D839G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,635,817 (GRCm39) |
|
probably null |
Het |
AY074887 |
T |
C |
9: 54,858,102 (GRCm39) |
|
probably benign |
Het |
Bicd1 |
C |
G |
6: 149,421,912 (GRCm39) |
Q878E |
probably benign |
Het |
Catspere1 |
A |
T |
1: 177,707,348 (GRCm39) |
|
noncoding transcript |
Het |
Cnmd |
T |
C |
14: 79,894,126 (GRCm39) |
Q87R |
probably benign |
Het |
Col24a1 |
G |
T |
3: 145,051,712 (GRCm39) |
G661* |
probably null |
Het |
Crtap |
G |
A |
9: 114,213,860 (GRCm39) |
L232F |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,675,190 (GRCm39) |
Q388R |
probably benign |
Het |
Ddb1 |
A |
T |
19: 10,599,728 (GRCm39) |
T646S |
probably benign |
Het |
Dnah6 |
G |
T |
6: 73,172,617 (GRCm39) |
S280R |
probably benign |
Het |
Dzank1 |
T |
C |
2: 144,325,332 (GRCm39) |
H545R |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,261 (GRCm39) |
M207L |
probably benign |
Het |
Elmo2 |
T |
A |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,350,537 (GRCm39) |
A731T |
probably benign |
Het |
Kcnf1 |
T |
C |
12: 17,224,742 (GRCm39) |
E493G |
probably benign |
Het |
Lmna |
A |
T |
3: 88,391,414 (GRCm39) |
D364E |
probably damaging |
Het |
Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
Map3k20 |
A |
T |
2: 72,268,558 (GRCm39) |
T522S |
probably benign |
Het |
Mroh9 |
C |
A |
1: 162,871,690 (GRCm39) |
A598S |
probably damaging |
Het |
Msln |
T |
C |
17: 25,971,957 (GRCm39) |
M87V |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,440 (GRCm39) |
K259E |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,549 (GRCm39) |
N5S |
probably damaging |
Het |
Or4a27 |
T |
A |
2: 88,559,892 (GRCm39) |
Q17L |
probably benign |
Het |
Or5d16 |
T |
A |
2: 87,773,232 (GRCm39) |
M247L |
probably benign |
Het |
Pals1 |
T |
A |
12: 78,867,589 (GRCm39) |
M324K |
possibly damaging |
Het |
Plekhg5 |
T |
A |
4: 152,192,322 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
G |
T |
19: 46,053,197 (GRCm39) |
|
probably benign |
Het |
Ptprm |
T |
A |
17: 67,264,092 (GRCm39) |
K385I |
probably benign |
Het |
Rfxap |
T |
A |
3: 54,711,938 (GRCm39) |
N215I |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,069,333 (GRCm39) |
Y114* |
probably null |
Het |
Smarcb1 |
G |
T |
10: 75,747,628 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,877 (GRCm39) |
R770* |
probably null |
Het |
Stard9 |
A |
T |
2: 120,528,342 (GRCm39) |
Y1533F |
probably benign |
Het |
Tbcd |
A |
T |
11: 121,500,853 (GRCm39) |
Y1142F |
probably benign |
Het |
Trappc2b |
A |
T |
11: 51,576,893 (GRCm39) |
S2T |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Uba7 |
G |
A |
9: 107,857,246 (GRCm39) |
V703I |
probably benign |
Het |
Upb1 |
T |
C |
10: 75,248,638 (GRCm39) |
S53P |
possibly damaging |
Het |
Zfp672 |
A |
G |
11: 58,207,677 (GRCm39) |
S215P |
possibly damaging |
Het |
Zfp978 |
T |
A |
4: 147,475,437 (GRCm39) |
L328H |
probably damaging |
Het |
|
Other mutations in Igsf21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01538:Igsf21
|
APN |
4 |
139,755,029 (GRCm39) |
splice site |
probably benign |
|
IGL01613:Igsf21
|
APN |
4 |
139,834,675 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01618:Igsf21
|
APN |
4 |
139,834,675 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1458:Igsf21
|
UTSW |
4 |
139,755,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Igsf21
|
UTSW |
4 |
139,761,836 (GRCm39) |
missense |
probably benign |
|
R1464:Igsf21
|
UTSW |
4 |
139,761,836 (GRCm39) |
missense |
probably benign |
|
R1793:Igsf21
|
UTSW |
4 |
139,761,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R1913:Igsf21
|
UTSW |
4 |
139,834,623 (GRCm39) |
missense |
probably benign |
|
R2220:Igsf21
|
UTSW |
4 |
139,755,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R4013:Igsf21
|
UTSW |
4 |
139,764,780 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4721:Igsf21
|
UTSW |
4 |
139,834,621 (GRCm39) |
missense |
probably benign |
0.09 |
R4911:Igsf21
|
UTSW |
4 |
139,761,934 (GRCm39) |
missense |
probably benign |
0.01 |
R5725:Igsf21
|
UTSW |
4 |
139,762,054 (GRCm39) |
missense |
probably benign |
0.02 |
R5778:Igsf21
|
UTSW |
4 |
139,764,832 (GRCm39) |
missense |
probably benign |
0.28 |
R5804:Igsf21
|
UTSW |
4 |
139,755,385 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6140:Igsf21
|
UTSW |
4 |
139,834,684 (GRCm39) |
missense |
probably benign |
0.10 |
R6778:Igsf21
|
UTSW |
4 |
139,761,959 (GRCm39) |
missense |
probably benign |
0.05 |
R6888:Igsf21
|
UTSW |
4 |
139,762,054 (GRCm39) |
missense |
probably benign |
0.02 |
R6963:Igsf21
|
UTSW |
4 |
139,755,041 (GRCm39) |
missense |
probably benign |
0.02 |
R7203:Igsf21
|
UTSW |
4 |
139,834,648 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7485:Igsf21
|
UTSW |
4 |
139,755,049 (GRCm39) |
missense |
probably benign |
0.09 |
R7880:Igsf21
|
UTSW |
4 |
139,884,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Igsf21
|
UTSW |
4 |
139,761,755 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8175:Igsf21
|
UTSW |
4 |
139,755,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9035:Igsf21
|
UTSW |
4 |
139,884,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R9190:Igsf21
|
UTSW |
4 |
139,756,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R9197:Igsf21
|
UTSW |
4 |
139,762,084 (GRCm39) |
missense |
probably benign |
0.01 |
R9325:Igsf21
|
UTSW |
4 |
139,794,466 (GRCm39) |
missense |
probably damaging |
0.98 |
R9398:Igsf21
|
UTSW |
4 |
139,973,762 (GRCm39) |
start gained |
probably benign |
|
R9556:Igsf21
|
UTSW |
4 |
139,762,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R9777:Igsf21
|
UTSW |
4 |
139,755,407 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Igsf21
|
UTSW |
4 |
139,794,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAACAATGGGATGGTACGACC -3'
(R):5'- AATGAGGTCTTCCCAGAACCC -3'
Sequencing Primer
(F):5'- TGGTACGACCATGTTACAAATAGG -3'
(R):5'- CATGTTCACGTGGACGAGAG -3'
|
Posted On |
2016-06-21 |