Incidental Mutation 'R8730:Igsf3'
| ID |
662690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf3
|
| Ensembl Gene |
ENSMUSG00000042035 |
| Gene Name |
immunoglobulin superfamily, member 3 |
| Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
| MMRRC Submission |
068578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R8730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101334532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 203
(I203T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043983]
[ENSMUST00000195164]
|
| AlphaFold |
Q6ZQA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043983
AA Change: I203T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: I203T
| 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 |
probably benign
Transcript: ENSMUST00000195164
AA Change: I203T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: I203T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
C |
5: 8,208,830 (GRCm39) |
S200A |
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,556 (GRCm39) |
R409H |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,506 (GRCm39) |
V548M |
possibly damaging |
Het |
| Ampd1 |
T |
A |
3: 102,992,676 (GRCm39) |
C143* |
probably null |
Het |
| Angpt4 |
A |
G |
2: 151,771,467 (GRCm39) |
Q261R |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,601,191 (GRCm39) |
K491E |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,457,501 (GRCm39) |
M180K |
possibly damaging |
Het |
| Dcst2 |
C |
T |
3: 89,280,553 (GRCm39) |
R620C |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,688,832 (GRCm39) |
|
probably benign |
Het |
| Dhrs1 |
T |
A |
14: 55,980,978 (GRCm39) |
T103S |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,384,087 (GRCm39) |
L1043P |
possibly damaging |
Het |
| Eci3 |
A |
T |
13: 35,144,405 (GRCm39) |
N19K |
probably benign |
Het |
| Ets1 |
A |
T |
9: 32,649,614 (GRCm39) |
D317V |
probably damaging |
Het |
| Fem1c |
T |
C |
18: 46,638,668 (GRCm39) |
I445V |
possibly damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,492,484 (GRCm39) |
I176M |
possibly damaging |
Het |
| Gm6563 |
A |
T |
19: 23,653,429 (GRCm39) |
K73I |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,532,140 (GRCm39) |
R252G |
possibly damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,651 (GRCm39) |
L158P |
probably damaging |
Het |
| Hand2 |
T |
A |
8: 57,775,468 (GRCm39) |
V176E |
probably benign |
Het |
| Hey2 |
G |
T |
10: 30,718,622 (GRCm39) |
T8K |
possibly damaging |
Het |
| Itgax |
G |
A |
7: 127,739,066 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,725,139 (GRCm39) |
I212V |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,403,708 (GRCm39) |
V740L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,797 (GRCm39) |
I362T |
probably damaging |
Het |
| Klhdc9 |
C |
T |
1: 171,186,488 (GRCm39) |
G316D |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,738 (GRCm39) |
E169G |
probably damaging |
Het |
| Muc20 |
G |
T |
16: 32,599,490 (GRCm39) |
H645N |
probably benign |
Het |
| Nrm |
A |
G |
17: 36,175,423 (GRCm39) |
T52A |
probably benign |
Het |
| Or13a23-ps1 |
T |
C |
7: 140,119,197 (GRCm39) |
S256P |
unknown |
Het |
| Or14c41 |
A |
G |
7: 86,235,259 (GRCm39) |
K259E |
probably benign |
Het |
| Or2y3 |
A |
T |
17: 38,392,925 (GRCm39) |
*315K |
probably null |
Het |
| Or4c105 |
T |
A |
2: 88,648,043 (GRCm39) |
M176K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,934 (GRCm39) |
D268E |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,453,348 (GRCm39) |
V221A |
probably benign |
Het |
| Pde11a |
A |
T |
2: 75,889,334 (GRCm39) |
N713K |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,405,944 (GRCm39) |
L65S |
probably damaging |
Het |
| Prox1 |
A |
G |
1: 189,894,238 (GRCm39) |
V69A |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,198 (GRCm39) |
H146R |
probably damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,702 (GRCm39) |
F44I |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,795 (GRCm39) |
D581G |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,381,239 (GRCm39) |
T1057A |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,786,495 (GRCm39) |
G836R |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,122,057 (GRCm39) |
S155T |
possibly damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,030,951 (GRCm39) |
Y308C |
|
Het |
| Slfn9 |
T |
C |
11: 82,878,194 (GRCm39) |
I312V |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,130,461 (GRCm39) |
L351Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,601,590 (GRCm39) |
D157G |
probably benign |
Het |
| Tmprss11g |
C |
T |
5: 86,638,837 (GRCm39) |
|
probably null |
Het |
| Tnpo1 |
A |
T |
13: 98,989,916 (GRCm39) |
I745N |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,236,624 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
G |
A |
3: 125,732,105 (GRCm39) |
|
probably benign |
Het |
| Urod |
T |
C |
4: 116,850,729 (GRCm39) |
|
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,838 (GRCm39) |
Y276* |
probably null |
Het |
| Vwa3a |
T |
A |
7: 120,381,910 (GRCm39) |
S582T |
probably damaging |
Het |
| Zfp869 |
A |
T |
8: 70,159,177 (GRCm39) |
C465* |
probably null |
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 |
|
R6758:Igsf3
|
UTSW |
3 |
101,332,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- AGATTCTCTGCAGACCACGG -3'
(R):5'- TGGTCATCAAACAAGGCGTCC -3'
Sequencing Primer
(F):5'- TCTGCAGACCACGGCTGTC -3'
(R):5'- GCTTCCTGGTCATGGCGTAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation