Incidental Mutation 'R4013:Igsf21'
| ID |
311810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf21
|
| Ensembl Gene |
ENSMUSG00000040972 |
| Gene Name |
immunoglobulin superfamily, member 21 |
| Synonyms |
LOC230868 |
| MMRRC Submission |
040950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139754157-139974095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139764780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 165
(N165S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039331]
|
| AlphaFold |
Q7TNR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039331
AA Change: N165S
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046558
Gene: ENSMUSG00000040972
AA Change: N165S
| 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 |
0.1909 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,668,104 (GRCm39) |
Q168R |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,727 (GRCm39) |
|
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,789,860 (GRCm39) |
V429M |
probably damaging |
Het |
| Cbln4 |
A |
T |
2: 171,879,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,340 (GRCm39) |
V594A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,699,797 (GRCm39) |
E28G |
possibly damaging |
Het |
| Clip4 |
T |
A |
17: 72,163,541 (GRCm39) |
C704* |
probably null |
Het |
| Col8a2 |
T |
A |
4: 126,204,908 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,016,193 (GRCm39) |
T17A |
probably benign |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,853 (GRCm39) |
Q3* |
probably null |
Het |
| Cysltr2 |
A |
G |
14: 73,267,005 (GRCm39) |
I235T |
probably damaging |
Het |
| Esp34 |
C |
A |
17: 38,870,446 (GRCm39) |
C45* |
probably null |
Het |
| Gabrg2 |
T |
C |
11: 41,862,707 (GRCm39) |
K126E |
possibly damaging |
Het |
| Gm4846 |
A |
C |
1: 166,322,249 (GRCm39) |
|
probably null |
Het |
| Kcnf1 |
A |
G |
12: 17,225,994 (GRCm39) |
F76L |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,010,177 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,067 (GRCm39) |
Y1325C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,335,731 (GRCm39) |
Y460H |
probably damaging |
Het |
| Myo15b |
G |
T |
11: 115,762,282 (GRCm39) |
E1201* |
probably null |
Het |
| Ndor1 |
A |
T |
2: 25,140,162 (GRCm39) |
I84K |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,476,819 (GRCm39) |
Y15N |
probably damaging |
Het |
| Or51af1 |
T |
C |
7: 103,141,840 (GRCm39) |
T82A |
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,725 (GRCm39) |
S137P |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,424,347 (GRCm39) |
D317E |
possibly damaging |
Het |
| Ppp2r1a |
G |
A |
17: 21,171,609 (GRCm39) |
R28H |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpn12 |
G |
A |
5: 21,197,741 (GRCm39) |
P700L |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc39a13 |
T |
C |
2: 90,895,247 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
T |
11: 77,450,659 (GRCm39) |
L371H |
possibly damaging |
Het |
| Tas2r116 |
A |
G |
6: 132,833,230 (GRCm39) |
H277R |
probably damaging |
Het |
| Treml4 |
G |
A |
17: 48,571,837 (GRCm39) |
R80Q |
probably benign |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,904,603 (GRCm39) |
T412I |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Wdr93 |
T |
A |
7: 79,418,159 (GRCm39) |
V294E |
possibly 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 |
|
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 |
|
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'- GGTACTCCTGGAAGTCAACC -3'
(R):5'- AAGCAGGGACTCTTGTGTCTC -3'
Sequencing Primer
(F):5'- ACCTTACTATGCCGATCTAGGATGG -3'
(R):5'- GGACTCTTGTGTCTCCAGCAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation