Incidental Mutation 'R6778:Igsf21'
| ID |
531367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf21
|
| Ensembl Gene |
ENSMUSG00000040972 |
| Gene Name |
immunoglobulin superfamily, member 21 |
| Synonyms |
LOC230868 |
| MMRRC Submission |
044894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139754157-139974095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 139761959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 240
(R240S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039331]
|
| AlphaFold |
Q7TNR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039331
AA Change: R240S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046558
Gene: ENSMUSG00000040972
AA Change: R240S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
| Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
| Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fubp3 |
A |
T |
2: 31,488,685 (GRCm39) |
K180N |
possibly damaging |
Het |
| Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
| Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
| Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
| Npas2 |
T |
A |
1: 39,364,381 (GRCm39) |
M241K |
possibly damaging |
Het |
| Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,408 (GRCm39) |
F56S |
probably damaging |
Het |
| Rin1 |
T |
C |
19: 5,104,914 (GRCm39) |
L647P |
probably damaging |
Het |
| Sgk3 |
T |
A |
1: 9,956,369 (GRCm39) |
|
probably null |
Het |
| Sgpp1 |
A |
G |
12: 75,763,068 (GRCm39) |
I371T |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,522 (GRCm39) |
K367R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
| Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
| Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
probably benign |
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 |
|
R5157:Igsf21
|
UTSW |
4 |
139,755,378 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
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'- AGAGGGCCTCATTGTCGATC -3'
(R):5'- TCCTGCTTGCAACTGTAGG -3'
Sequencing Primer
(F):5'- CCTCATTGTCGATCTGCGGG -3'
(R):5'- GCAACTGTAGGTTTATTTCAAACGGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation