Incidental Mutation 'R9782:Igsf3'
| ID |
734100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf3
|
| Ensembl Gene |
ENSMUSG00000042035 |
| Gene Name |
immunoglobulin superfamily, member 3 |
| Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R9782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101338612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 309
(I309F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043983]
[ENSMUST00000195164]
|
| AlphaFold |
Q6ZQA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043983
AA Change: I309F
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: I309F
| 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: I309F
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: I309F
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,053,796 (GRCm39) |
M1K |
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,200,848 (GRCm39) |
L281M |
possibly damaging |
Het |
| Bckdha |
A |
G |
7: 25,340,880 (GRCm39) |
|
probably null |
Het |
| Chil6 |
A |
T |
3: 106,296,121 (GRCm39) |
Y371* |
probably null |
Het |
| Cilk1 |
A |
T |
9: 78,048,520 (GRCm39) |
Q108L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,522,376 (GRCm39) |
H164Q |
probably benign |
Het |
| Gucd1 |
T |
G |
10: 75,345,650 (GRCm39) |
D135A |
probably benign |
Het |
| Hacd1 |
A |
G |
2: 14,040,751 (GRCm39) |
I168T |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,021,896 (GRCm39) |
E1013G |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 105,999,217 (GRCm39) |
|
probably null |
Het |
| Ift140 |
G |
T |
17: 25,264,151 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
A |
1: 34,482,901 (GRCm39) |
L164Q |
probably damaging |
Het |
| Jazf1 |
C |
T |
6: 52,747,311 (GRCm39) |
V204I |
probably benign |
Het |
| Kmt2d |
T |
A |
15: 98,764,597 (GRCm39) |
D2V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,899,910 (GRCm39) |
V537A |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,208,720 (GRCm39) |
D32V |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,306,066 (GRCm39) |
|
probably null |
Het |
| Morn3 |
C |
T |
5: 123,175,822 (GRCm39) |
V189M |
probably damaging |
Het |
| Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,713,293 (GRCm39) |
M490T |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,548,066 (GRCm39) |
T6076A |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,549,273 (GRCm39) |
E113G |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,052 (GRCm39) |
V157D |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,214,192 (GRCm39) |
V449A |
probably damaging |
Het |
| Ogdhl |
C |
T |
14: 32,061,909 (GRCm39) |
T528M |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,835 (GRCm39) |
V303M |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,067 (GRCm39) |
V166A |
probably damaging |
Het |
| Pcdhb12 |
AT |
A |
18: 37,570,393 (GRCm39) |
|
probably null |
Het |
| Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,516,237 (GRCm39) |
V562G |
possibly damaging |
Het |
| Plxna1 |
C |
A |
6: 89,333,817 (GRCm39) |
A271S |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,766 (GRCm39) |
S716N |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,271,762 (GRCm39) |
G256S |
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,164,331 (GRCm39) |
M127K |
probably benign |
Het |
| Psmf1 |
T |
C |
2: 151,577,533 (GRCm39) |
D48G |
possibly damaging |
Het |
| Rabggta |
T |
A |
14: 55,955,944 (GRCm39) |
M438L |
possibly damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,113 (GRCm39) |
E297G |
probably damaging |
Het |
| Rras |
A |
T |
7: 44,669,945 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,041,813 (GRCm39) |
R465G |
probably null |
Het |
| Slc28a2b |
T |
A |
2: 122,352,338 (GRCm39) |
I365N |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,340,172 (GRCm39) |
T437A |
probably benign |
Het |
| Son |
A |
T |
16: 91,444,838 (GRCm39) |
S15C |
probably damaging |
Het |
| Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
| Sptbn4 |
G |
T |
7: 27,107,993 (GRCm39) |
Q810K |
probably benign |
Het |
| Tmtc2 |
T |
C |
10: 105,026,062 (GRCm39) |
Y802C |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,758,716 (GRCm39) |
M2181K |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,530,767 (GRCm39) |
S282P |
probably damaging |
Het |
| Zbtb7a |
G |
A |
10: 80,979,910 (GRCm39) |
D35N |
probably damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,489 (GRCm39) |
V531L |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,514 (GRCm39) |
D2249G |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,932 (GRCm39) |
K49E |
probably benign |
Het |
| Zfp942 |
T |
C |
17: 22,147,463 (GRCm39) |
T389A |
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 |
|
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 |
|
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 |
|
X0027:Igsf3
|
UTSW |
3 |
101,342,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAGGGGAATAGGATTTCC -3'
(R):5'- CCAGTGACAGTCTTCTCTCG -3'
Sequencing Primer
(F):5'- AGGATTTCCTGAAGCAGTTTGG -3'
(R):5'- CAGTCACCCGGCAGTTGTATTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation