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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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