Incidental Mutation 'R1422:Igsf1'
ID161152
Institutional Source Beutler Lab
Gene Symbol Igsf1
Ensembl Gene ENSMUSG00000031111
Gene Nameimmunoglobulin superfamily, member 1
Synonyms
MMRRC Submission 039478-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1422 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location49782536-49797749 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 49782936 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 737 (G737*)
Ref Sequence ENSEMBL: ENSMUSP00000110543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033442] [ENSMUST00000072037] [ENSMUST00000114893]
Predicted Effect probably null
Transcript: ENSMUST00000033442
AA Change: G1279*
SMART Domains Protein: ENSMUSP00000033442
Gene: ENSMUSG00000031111
AA Change: G1279*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 33 113 2.88e1 SMART
IG_like 127 212 1.02e1 SMART
IG 223 307 4.15e0 SMART
IGc2 324 389 2.21e-5 SMART
IG_like 413 472 1.7e0 SMART
transmembrane domain 501 520 N/A INTRINSIC
transmembrane domain 532 551 N/A INTRINSIC
SCOP:d1nkr_2 571 661 2e-9 SMART
IG_like 675 738 4.32e-1 SMART
IG 765 850 6.16e-4 SMART
IG 861 946 1.55e0 SMART
IG_like 957 1042 2.27e1 SMART
IG 1053 1138 4.93e-3 SMART
IG_like 1155 1214 6.67e-1 SMART
transmembrane domain 1243 1262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072037
SMART Domains Protein: ENSMUSP00000071919
Gene: ENSMUSG00000031111

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 33 113 2.88e1 SMART
IG_like 127 212 1.02e1 SMART
IG 223 307 4.15e0 SMART
IGc2 324 389 2.21e-5 SMART
IG_like 413 472 1.7e0 SMART
transmembrane domain 501 520 N/A INTRINSIC
transmembrane domain 532 551 N/A INTRINSIC
Pfam:Ig_2 572 659 4.5e-5 PFAM
IG_like 675 738 4.32e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000114893
AA Change: G737*
SMART Domains Protein: ENSMUSP00000110543
Gene: ENSMUSG00000031111
AA Change: G737*

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Ig_2 30 117 9.3e-5 PFAM
IG_like 133 196 4.32e-1 SMART
IG 223 308 6.16e-4 SMART
IG 319 404 1.55e0 SMART
IG_like 415 500 2.27e1 SMART
IG 511 596 4.93e-3 SMART
IG_like 613 672 6.67e-1 SMART
transmembrane domain 701 720 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.6%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Females homozygous for disruptions of this gene show no obvious phenotypic change. Hemizygous males show hypothyroidism and increased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,477,276 T170A probably benign Het
3110002H16Rik G A 18: 12,181,623 D87N probably damaging Het
4931408C20Rik C G 1: 26,682,466 S1211T possibly damaging Het
Arhgap5 T A 12: 52,519,514 D1089E probably damaging Het
Atrn T C 2: 130,957,914 Y404H probably damaging Het
Becn1 T C 11: 101,295,126 D98G possibly damaging Het
Coro2b A G 9: 62,428,947 probably null Het
Cpne4 T C 9: 104,900,285 I143T probably damaging Het
Cr2 A G 1: 195,171,125 I35T probably benign Het
Ctns T C 11: 73,185,246 Y321C probably damaging Het
Cyp4f16 A T 17: 32,542,999 M174L probably damaging Het
Dpy19l4 T C 4: 11,317,168 E10G possibly damaging Het
Dtx3 T A 10: 127,191,289 I339F possibly damaging Het
Fam184a A T 10: 53,675,208 M625K probably benign Het
Fgd6 A G 10: 94,045,372 E696G probably damaging Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm17535 A G 9: 3,035,804 Y224C probably null Het
Gria1 T A 11: 57,189,788 L199Q probably benign Het
Hk1 T C 10: 62,296,094 D184G probably null Het
Ift88 T C 14: 57,438,301 probably benign Het
Ift88 G A 14: 57,472,979 V403M probably damaging Het
Kif19a A G 11: 114,785,809 D488G probably benign Het
Lpcat2 T C 8: 92,879,417 L232P probably damaging Het
Ly9 A G 1: 171,601,212 V280A probably damaging Het
Macrod2 T A 2: 140,419,941 probably null Het
Mmp1a A G 9: 7,464,298 probably null Het
Mmrn2 A G 14: 34,396,239 H80R probably damaging Het
Olfr1156 G A 2: 87,950,095 T46I probably benign Het
Olfr124 T C 17: 37,805,363 Y73H probably damaging Het
Olfr564 G A 7: 102,803,850 R124H probably benign Het
Pkd1l3 C A 8: 109,621,708 P194H unknown Het
Plk2 A G 13: 110,399,489 M576V probably damaging Het
Pms2 T A 5: 143,913,705 S113T probably damaging Het
Ptprk A G 10: 28,475,280 I590V possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rad17 A G 13: 100,645,082 L69P probably benign Het
Robo2 G A 16: 73,978,448 T466M probably damaging Het
Sema6a A G 18: 47,306,431 C9R probably benign Het
Slc6a19 A G 13: 73,685,869 S357P probably benign Het
Spock3 T C 8: 63,143,989 I109T possibly damaging Het
Svs6 T C 2: 164,317,660 probably null Het
Tenm4 A T 7: 96,550,051 D17V probably damaging Het
Trp53bp2 T A 1: 182,446,464 M558K probably benign Het
Ttn T C 2: 76,741,670 E26293G probably damaging Het
Vmn1r29 A G 6: 58,307,886 Y197C probably damaging Het
Wdfy3 A T 5: 101,884,214 probably benign Het
Zfp366 A G 13: 99,229,296 K322E probably damaging Het
Other mutations in Igsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Igsf1 APN X 49785020 missense probably damaging 0.99
IGL03338:Igsf1 APN X 49787499 missense probably benign 0.17
R1573:Igsf1 UTSW X 49791986 missense possibly damaging 0.68
R2191:Igsf1 UTSW X 49783150 missense probably damaging 1.00
R4510:Igsf1 UTSW X 49786173 missense probably damaging 1.00
R4511:Igsf1 UTSW X 49786173 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCTTGACCTGTAGAGCTTGC -3'
(R):5'- TCCGAAGTACCCTGATTGTGGTGG -3'

Sequencing Primer
(F):5'- TGACCCAACTCAAGTGGTTAG -3'
(R):5'- AAGAAGTGGCCTCGACTTCG -3'
Posted On2014-03-14