Incidental Mutation 'R2350:Insl6'
ID 246087
Institutional Source Beutler Lab
Gene Symbol Insl6
Ensembl Gene ENSMUSG00000050957
Gene Name insulin-like 6
Synonyms RIF1, relaxin/insulin-like factor 1
MMRRC Submission 040332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R2350 (G1)
Quality Score 128
Status Validated
Chromosome 19
Chromosomal Location 29298754-29302718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29302645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 24 (E24V)
Ref Sequence ENSEMBL: ENSMUSP00000054488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052380]
AlphaFold Q9QY05
Predicted Effect possibly damaging
Transcript: ENSMUST00000052380
AA Change: E24V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054488
Gene: ENSMUSG00000050957
AA Change: E24V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IlGF 30 185 4.92e-10 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,655,047 (GRCm39) probably benign Het
Adam12 T C 7: 133,521,253 (GRCm39) T312A probably damaging Het
Adamts20 C T 15: 94,181,797 (GRCm39) C1632Y probably damaging Het
Ago2 T C 15: 72,991,310 (GRCm39) M543V probably benign Het
Alpk3 T C 7: 80,744,718 (GRCm39) L1271P probably damaging Het
Arpin T A 7: 79,581,553 (GRCm39) K56* probably null Het
Ccdc138 G T 10: 58,397,715 (GRCm39) probably benign Het
Ccdc63 A T 5: 122,260,948 (GRCm39) M192K probably benign Het
Cldn12 A T 5: 5,557,845 (GRCm39) V194D possibly damaging Het
Cntnap5b T C 1: 100,306,851 (GRCm39) L485P probably damaging Het
Cpne7 A G 8: 123,851,208 (GRCm39) D165G probably damaging Het
Cyp2j6 A T 4: 96,417,645 (GRCm39) M326K probably damaging Het
D630003M21Rik T A 2: 158,042,931 (GRCm39) T870S probably damaging Het
Dennd2c A G 3: 103,039,317 (GRCm39) D155G probably benign Het
Dnah3 A T 7: 119,645,011 (GRCm39) probably null Het
Dqx1 T A 6: 83,036,068 (GRCm39) C133* probably null Het
Fam234b T A 6: 135,208,722 (GRCm39) V545E probably damaging Het
Flcn T C 11: 59,683,485 (GRCm39) H564R probably damaging Het
Gsdmc4 T A 15: 63,765,014 (GRCm39) H348L probably benign Het
Gucy2c G T 6: 136,740,072 (GRCm39) P252T probably damaging Het
Irx1 T A 13: 72,108,167 (GRCm39) T172S probably damaging Het
Mocos C T 18: 24,799,713 (GRCm39) probably benign Het
Myom2 T C 8: 15,158,835 (GRCm39) V837A probably benign Het
Nfatc2ip T C 7: 125,995,170 (GRCm39) N126S probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Npepl1 T C 2: 173,953,566 (GRCm39) S166P probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d11 G T 9: 19,966,384 (GRCm39) A125D probably damaging Het
Otop2 T G 11: 115,217,676 (GRCm39) C171G probably damaging Het
Parpbp C A 10: 87,968,950 (GRCm39) probably benign Het
Pcdhb20 T A 18: 37,637,563 (GRCm39) S30T probably benign Het
Phkg1 A T 5: 129,893,373 (GRCm39) V359E probably damaging Het
Ppp2cb A G 8: 34,101,855 (GRCm39) D131G probably null Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Unc5b A G 10: 60,613,979 (GRCm39) F290S probably benign Het
Vmn1r71 A G 7: 10,481,846 (GRCm39) F215L probably benign Het
Vmn2r101 T C 17: 19,810,045 (GRCm39) V277A probably benign Het
Vmn2r6 T C 3: 64,463,773 (GRCm39) S354G probably benign Het
Zfp292 A T 4: 34,811,281 (GRCm39) S588T probably damaging Het
Other mutations in Insl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Insl6 APN 19 29,298,953 (GRCm39) missense possibly damaging 0.94
IGL02754:Insl6 APN 19 29,302,529 (GRCm39) missense probably benign
R0483:Insl6 UTSW 19 29,298,968 (GRCm39) missense probably benign 0.28
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
Predicted Primers PCR Primer
(F):5'- TGTGAATCTTCTCCAGGCG -3'
(R):5'- TCTGGAGAAGATTGCCTGCG -3'

Sequencing Primer
(F):5'- TCCAGGCGGAGGAAGAAG -3'
(R):5'- ATTGCCTGCGAGGGAGG -3'
Posted On 2014-10-30