Incidental Mutation 'IGL01313:Insl6'
ID 73738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Insl6
Ensembl Gene ENSMUSG00000050957
Gene Name insulin-like 6
Synonyms RIF1, relaxin/insulin-like factor 1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL01313
Quality Score
Status
Chromosome 19
Chromosomal Location 29298754-29302718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29298953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 153 (S153I)
Ref Sequence ENSEMBL: ENSMUSP00000054488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052380]
AlphaFold Q9QY05
Predicted Effect possibly damaging
Transcript: ENSMUST00000052380
AA Change: S153I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054488
Gene: ENSMUSG00000050957
AA Change: S153I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IlGF 30 185 4.92e-10 SMART
Coding Region Coverage
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 contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with male germ cell apoptosis and reduced sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,969 (GRCm39) probably null Het
Abca7 T A 10: 79,838,957 (GRCm39) probably benign Het
Acvr1c T G 2: 58,205,986 (GRCm39) Q41H probably benign Het
Apob A T 12: 8,050,898 (GRCm39) N1041Y probably damaging Het
Asb5 A T 8: 55,038,798 (GRCm39) probably benign Het
Asxl3 A T 18: 22,650,516 (GRCm39) E835V probably benign Het
Ccdc73 A T 2: 104,737,972 (GRCm39) M23L probably benign Het
Cep170b G A 12: 112,702,086 (GRCm39) R293H probably damaging Het
Chd8 C A 14: 52,448,032 (GRCm39) L316F probably damaging Het
Cldn13 T C 5: 134,944,114 (GRCm39) S24G possibly damaging Het
Cnot10 A T 9: 114,460,923 (GRCm39) N82K probably benign Het
Colec10 G A 15: 54,323,157 (GRCm39) V127M probably damaging Het
Cyp2d40 T C 15: 82,645,478 (GRCm39) S130G unknown Het
Ddx60 T A 8: 62,435,560 (GRCm39) H904Q probably damaging Het
Dnaaf11 A T 15: 66,252,362 (GRCm39) S435T probably benign Het
Dnajc2 T C 5: 21,979,974 (GRCm39) N177S possibly damaging Het
F5 G T 1: 164,021,181 (GRCm39) V1219L probably benign Het
Fam47c G T X: 77,781,454 (GRCm39) R12L probably damaging Het
Fat4 T C 3: 39,061,350 (GRCm39) I4311T possibly damaging Het
Fbf1 A G 11: 116,041,907 (GRCm39) V545A probably benign Het
Fhod3 G A 18: 25,153,777 (GRCm39) E420K probably damaging Het
Ikzf2 T C 1: 69,578,589 (GRCm39) K162E probably damaging Het
Kcnh8 A G 17: 53,141,708 (GRCm39) Y317C probably damaging Het
Lzts1 C A 8: 69,591,759 (GRCm39) V130L probably benign Het
Mill1 T C 7: 17,998,558 (GRCm39) I256T possibly damaging Het
Mycbpap A C 11: 94,400,145 (GRCm39) probably null Het
Or6c65 A G 10: 129,603,464 (GRCm39) Y33C probably damaging Het
Pdia6 T A 12: 17,320,542 (GRCm39) probably benign Het
Pik3c2b C T 1: 132,999,369 (GRCm39) Q406* probably null Het
Pkhd1 C A 1: 20,271,248 (GRCm39) G3102C probably damaging Het
Polr3b T A 10: 84,561,607 (GRCm39) I1122N probably damaging Het
Ryr2 T A 13: 11,653,371 (GRCm39) probably null Het
Samhd1 A G 2: 156,958,321 (GRCm39) I300T probably damaging Het
Skint5 T A 4: 113,662,361 (GRCm39) I609F unknown Het
Slc27a3 G T 3: 90,293,861 (GRCm39) T541K probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tenm2 A G 11: 35,915,075 (GRCm39) V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 (GRCm39) I433F probably benign Het
Thoc2 A T X: 40,916,223 (GRCm39) V865D probably benign Het
Trdn C A 10: 33,076,216 (GRCm39) P282Q probably damaging Het
Twsg1 C A 17: 66,255,699 (GRCm39) C25F probably damaging Het
Usp34 T A 11: 23,423,206 (GRCm39) I3155N probably damaging Het
Vmn2r106 T A 17: 20,498,651 (GRCm39) Q420L probably damaging Het
Vmn2r109 C T 17: 20,770,419 (GRCm39) R523K probably damaging Het
Other mutations in Insl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02754:Insl6 APN 19 29,302,529 (GRCm39) missense probably benign
R0483:Insl6 UTSW 19 29,298,968 (GRCm39) missense probably benign 0.28
R2350:Insl6 UTSW 19 29,302,645 (GRCm39) missense possibly damaging 0.86
R4885:Insl6 UTSW 19 29,302,556 (GRCm39) missense probably benign 0.23
R4962:Insl6 UTSW 19 29,299,019 (GRCm39) missense probably damaging 1.00
R5071:Insl6 UTSW 19 29,302,655 (GRCm39) missense probably benign 0.00
R5112:Insl6 UTSW 19 29,298,996 (GRCm39) nonsense probably null
R7265:Insl6 UTSW 19 29,298,945 (GRCm39) missense possibly damaging 0.92
Posted On 2013-10-07