Incidental Mutation 'R0711:Igsf3'
| ID |
62719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf3
|
| Ensembl Gene |
ENSMUSG00000042035 |
| Gene Name |
immunoglobulin superfamily, member 3 |
| Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
| MMRRC Submission |
038894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R0711 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101334709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 262
(M262T)
|
| 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: M262T
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: M262T
| 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: M262T
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: M262T
| 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
|
| Meta Mutation Damage Score |
0.2780 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (91/91) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,773,986 (GRCm39) |
D1058E |
probably damaging |
Het |
| 4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
| Afdn |
C |
T |
17: 14,072,698 (GRCm39) |
P874S |
probably damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,815,326 (GRCm39) |
A391V |
probably damaging |
Het |
| Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,657,508 (GRCm39) |
M1839I |
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,726,226 (GRCm39) |
|
probably null |
Het |
| Chid1 |
C |
T |
7: 141,076,590 (GRCm39) |
V325I |
probably benign |
Het |
| Cnn3 |
T |
A |
3: 121,243,633 (GRCm39) |
D31E |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,559,317 (GRCm39) |
P1857L |
probably damaging |
Het |
| Cpeb1 |
T |
A |
7: 81,001,618 (GRCm39) |
R430W |
probably benign |
Het |
| Daw1 |
T |
C |
1: 83,169,059 (GRCm39) |
|
probably benign |
Het |
| Dcaf13 |
A |
G |
15: 39,001,484 (GRCm39) |
Y264C |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,064,585 (GRCm39) |
I2666V |
probably damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,501,692 (GRCm39) |
F1833I |
probably damaging |
Het |
| Efhd2 |
C |
T |
4: 141,587,183 (GRCm39) |
A200T |
probably damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Gkn2 |
T |
C |
6: 87,350,401 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
T |
16: 36,739,152 (GRCm39) |
Q2497L |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,196 (GRCm39) |
M245K |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,054,585 (GRCm39) |
|
probably benign |
Het |
| Icosl |
T |
A |
10: 77,909,775 (GRCm39) |
V240D |
probably damaging |
Het |
| Ing3 |
G |
T |
6: 21,971,236 (GRCm39) |
E336* |
probably null |
Het |
| Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
| Mdfi |
A |
T |
17: 48,143,855 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,192,179 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
C |
T |
17: 88,294,112 (GRCm39) |
R956C |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,774,664 (GRCm39) |
E670G |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,509,018 (GRCm39) |
D266G |
probably damaging |
Het |
| Or51ai2 |
G |
A |
7: 103,587,024 (GRCm39) |
A146T |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,447 (GRCm39) |
N54K |
probably benign |
Het |
| Pde8b |
C |
G |
13: 95,244,325 (GRCm39) |
S143T |
possibly damaging |
Het |
| Pias4 |
G |
T |
10: 80,993,364 (GRCm39) |
|
probably benign |
Het |
| Prkca |
A |
G |
11: 107,872,480 (GRCm39) |
Y427H |
probably benign |
Het |
| Psg25 |
G |
A |
7: 18,263,485 (GRCm39) |
Q113* |
probably null |
Het |
| Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,938,756 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
| Serpinb9f |
T |
A |
13: 33,511,904 (GRCm39) |
W136R |
probably damaging |
Het |
| Skic3 |
C |
T |
13: 76,331,010 (GRCm39) |
P1480L |
probably damaging |
Het |
| Skint10 |
C |
A |
4: 112,573,102 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
C |
6: 6,117,128 (GRCm39) |
T196A |
probably damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,052,230 (GRCm39) |
H33R |
probably damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,251 (GRCm39) |
Y819N |
probably damaging |
Het |
| Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
| Tmco3 |
T |
A |
8: 13,342,039 (GRCm39) |
N104K |
probably damaging |
Het |
| Tmem200c |
A |
G |
17: 69,149,249 (GRCm39) |
T611A |
probably damaging |
Het |
| Tmem202 |
T |
G |
9: 59,432,655 (GRCm39) |
Y24S |
probably damaging |
Het |
| Tpp1 |
A |
G |
7: 105,398,626 (GRCm39) |
L230P |
probably damaging |
Het |
| Trim56 |
C |
T |
5: 137,141,846 (GRCm39) |
E557K |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,790,309 (GRCm39) |
L3590F |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
| Vcp |
G |
C |
4: 42,986,201 (GRCm39) |
A297G |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,603,234 (GRCm39) |
H861Q |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,599,751 (GRCm39) |
I536T |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,698 (GRCm39) |
N170S |
probably benign |
Het |
| Zfp87 |
G |
A |
13: 74,524,544 (GRCm39) |
|
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 |
|
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 |
|
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'- CATTTCCCTGAGCCGAGACTTCATC -3'
(R):5'- GGGACTATGTACCTGTTTCCCTCAGC -3'
Sequencing Primer
(F):5'- GAGACTTCATCCTGCACTCCAG -3'
(R):5'- TGGTCATCAAACAAGGCGTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation