Incidental Mutation 'R6758:Igsf3'
ID |
531105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf3
|
Ensembl Gene |
ENSMUSG00000042035 |
Gene Name |
immunoglobulin superfamily, member 3 |
Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
MMRRC Submission |
044874-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.250)
|
Stock # |
R6758 (G1)
|
Quality Score |
202.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101332814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 31
(Y31H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043983]
[ENSMUST00000195164]
|
AlphaFold |
Q6ZQA6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043983
AA Change: Y31H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048900 Gene: ENSMUSG00000042035 AA Change: Y31H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
27 |
142 |
7.7e-5 |
SMART |
IG
|
152 |
275 |
1.99e-7 |
SMART |
IG
|
287 |
405 |
1.79e0 |
SMART |
IG
|
417 |
539 |
6.26e-5 |
SMART |
IG
|
553 |
674 |
3.16e-1 |
SMART |
IG
|
686 |
811 |
4.89e-7 |
SMART |
IG
|
823 |
947 |
8.38e-6 |
SMART |
IG
|
959 |
1109 |
6.97e-3 |
SMART |
transmembrane domain
|
1125 |
1147 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195164
AA Change: Y31H
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141823 Gene: ENSMUSG00000042035 AA Change: Y31H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
27 |
142 |
3.1e-7 |
SMART |
IG
|
152 |
275 |
8.2e-10 |
SMART |
IG
|
287 |
405 |
7.4e-3 |
SMART |
IG
|
437 |
559 |
2.5e-7 |
SMART |
IG
|
573 |
694 |
1.3e-3 |
SMART |
IG
|
706 |
831 |
1.9e-9 |
SMART |
IG
|
843 |
967 |
3.4e-8 |
SMART |
IG
|
979 |
1129 |
2.9e-5 |
SMART |
transmembrane domain
|
1145 |
1167 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199431
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
A |
T |
5: 90,411,172 (GRCm39) |
D1374E |
probably damaging |
Het |
Cd96 |
C |
A |
16: 45,938,367 (GRCm39) |
V33L |
possibly damaging |
Het |
Drd1 |
T |
C |
13: 54,207,308 (GRCm39) |
E295G |
probably benign |
Het |
Fzd8 |
T |
A |
18: 9,213,238 (GRCm39) |
C107S |
possibly damaging |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm11595 |
C |
A |
11: 99,663,366 (GRCm39) |
V105L |
unknown |
Het |
Gm11595 |
A |
T |
11: 99,663,367 (GRCm39) |
C104* |
probably null |
Het |
Ikzf2 |
A |
T |
1: 69,578,059 (GRCm39) |
H483Q |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,094,901 (GRCm39) |
K309E |
probably benign |
Het |
Myt1l |
T |
G |
12: 29,892,599 (GRCm39) |
Y79D |
possibly damaging |
Het |
Nid2 |
T |
A |
14: 19,852,551 (GRCm39) |
S1086R |
probably damaging |
Het |
Or1o1 |
A |
G |
17: 37,716,586 (GRCm39) |
D49G |
probably damaging |
Het |
Or5h24 |
T |
C |
16: 58,919,328 (GRCm39) |
E9G |
probably damaging |
Het |
Or6c65 |
T |
C |
10: 129,603,920 (GRCm39) |
I185T |
probably damaging |
Het |
Rorc |
A |
G |
3: 94,294,825 (GRCm39) |
N51S |
possibly damaging |
Het |
Sanbr |
T |
C |
11: 23,538,475 (GRCm39) |
|
probably null |
Het |
Simc1 |
C |
T |
13: 54,673,361 (GRCm39) |
P570S |
possibly damaging |
Het |
Smn1 |
T |
A |
13: 100,268,946 (GRCm39) |
M264K |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,678 (GRCm39) |
D1608G |
probably benign |
Het |
Tll1 |
C |
A |
8: 64,494,439 (GRCm39) |
|
probably null |
Het |
Trim15 |
A |
G |
17: 37,173,233 (GRCm39) |
L284P |
probably benign |
Het |
|
Other mutations in Igsf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Igsf3
|
APN |
3 |
101,338,555 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00907:Igsf3
|
APN |
3 |
101,334,764 (GRCm39) |
splice site |
probably benign |
|
IGL01321:Igsf3
|
APN |
3 |
101,334,338 (GRCm39) |
splice site |
probably benign |
|
IGL01340:Igsf3
|
APN |
3 |
101,346,995 (GRCm39) |
nonsense |
probably null |
|
IGL02291:Igsf3
|
APN |
3 |
101,346,845 (GRCm39) |
missense |
probably damaging |
1.00 |
Bunsen
|
UTSW |
3 |
101,358,612 (GRCm39) |
critical splice donor site |
probably null |
|
residue
|
UTSW |
3 |
101,342,751 (GRCm39) |
missense |
probably damaging |
0.99 |
weaksister
|
UTSW |
3 |
101,358,393 (GRCm39) |
nonsense |
probably null |
|
PIT4402001:Igsf3
|
UTSW |
3 |
101,334,393 (GRCm39) |
missense |
probably benign |
0.00 |
R0090:Igsf3
|
UTSW |
3 |
101,342,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R0143:Igsf3
|
UTSW |
3 |
101,342,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R0418:Igsf3
|
UTSW |
3 |
101,342,751 (GRCm39) |
missense |
probably damaging |
0.99 |
R0711:Igsf3
|
UTSW |
3 |
101,334,709 (GRCm39) |
missense |
probably benign |
0.31 |
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
R1384:Igsf3
|
UTSW |
3 |
101,358,612 (GRCm39) |
critical splice donor site |
probably null |
|
R1594:Igsf3
|
UTSW |
3 |
101,358,393 (GRCm39) |
nonsense |
probably null |
|
R1624:Igsf3
|
UTSW |
3 |
101,362,543 (GRCm39) |
missense |
probably benign |
0.37 |
R1766:Igsf3
|
UTSW |
3 |
101,338,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R1988:Igsf3
|
UTSW |
3 |
101,338,612 (GRCm39) |
missense |
probably benign |
0.03 |
R2072:Igsf3
|
UTSW |
3 |
101,346,831 (GRCm39) |
missense |
probably benign |
0.02 |
R4707:Igsf3
|
UTSW |
3 |
101,365,410 (GRCm39) |
missense |
probably benign |
0.06 |
R4976:Igsf3
|
UTSW |
3 |
101,346,677 (GRCm39) |
splice site |
probably null |
|
R4982:Igsf3
|
UTSW |
3 |
101,342,983 (GRCm39) |
missense |
probably benign |
0.42 |
R5008:Igsf3
|
UTSW |
3 |
101,358,233 (GRCm39) |
missense |
probably damaging |
0.97 |
R5119:Igsf3
|
UTSW |
3 |
101,346,677 (GRCm39) |
splice site |
probably null |
|
R5189:Igsf3
|
UTSW |
3 |
101,338,843 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5456:Igsf3
|
UTSW |
3 |
101,334,537 (GRCm39) |
missense |
probably benign |
0.20 |
R5776:Igsf3
|
UTSW |
3 |
101,332,796 (GRCm39) |
missense |
probably benign |
0.01 |
R6112:Igsf3
|
UTSW |
3 |
101,358,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Igsf3
|
UTSW |
3 |
101,342,964 (GRCm39) |
missense |
probably benign |
0.05 |
R7085:Igsf3
|
UTSW |
3 |
101,362,805 (GRCm39) |
missense |
probably benign |
0.12 |
R7310:Igsf3
|
UTSW |
3 |
101,338,895 (GRCm39) |
missense |
probably benign |
0.01 |
R7470:Igsf3
|
UTSW |
3 |
101,358,391 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7707:Igsf3
|
UTSW |
3 |
101,367,238 (GRCm39) |
missense |
probably benign |
0.00 |
R7719:Igsf3
|
UTSW |
3 |
101,342,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Igsf3
|
UTSW |
3 |
101,342,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Igsf3
|
UTSW |
3 |
101,362,595 (GRCm39) |
missense |
probably benign |
0.01 |
R8128:Igsf3
|
UTSW |
3 |
101,346,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R8221:Igsf3
|
UTSW |
3 |
101,347,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R8716:Igsf3
|
UTSW |
3 |
101,334,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R8730:Igsf3
|
UTSW |
3 |
101,334,532 (GRCm39) |
missense |
probably benign |
0.00 |
R9401:Igsf3
|
UTSW |
3 |
101,333,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R9449:Igsf3
|
UTSW |
3 |
101,358,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R9483:Igsf3
|
UTSW |
3 |
101,346,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R9483:Igsf3
|
UTSW |
3 |
101,346,817 (GRCm39) |
missense |
probably damaging |
0.98 |
R9575:Igsf3
|
UTSW |
3 |
101,338,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R9782:Igsf3
|
UTSW |
3 |
101,338,612 (GRCm39) |
missense |
probably benign |
0.03 |
X0027:Igsf3
|
UTSW |
3 |
101,342,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAAGGGCCAGTAACCTAC -3'
(R):5'- ATTCATACTCGCCGGCATCC -3'
Sequencing Primer
(F):5'- GGGCCAGTAACCTACTTATACTG -3'
(R):5'- TAGATCTTCCCACCGCGGAC -3'
|
Posted On |
2018-08-01 |