Incidental Mutation 'IGL02754:Insl6'
ID306341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Insl6
Ensembl Gene ENSMUSG00000050957
Gene Nameinsulin-like 6
SynonymsRIF1, relaxin/insulin-like factor 1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL02754
Quality Score
Status
Chromosome19
Chromosomal Location29321344-29325356 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 29325129 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 63 (Q63K)
Ref Sequence ENSEMBL: ENSMUSP00000054488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052380]
Predicted Effect probably benign
Transcript: ENSMUST00000052380
AA Change: Q63K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054488
Gene: ENSMUSG00000050957
AA Change: Q63K

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,596,626 R405* probably null Het
AW551984 C T 9: 39,593,328 probably null Het
BC100530 G A 16: 36,359,537 P73S probably benign Het
Bdp1 T C 13: 100,060,973 E968G possibly damaging Het
Ccdc68 T C 18: 69,943,864 probably null Het
Ccdc87 T A 19: 4,839,861 L127H probably damaging Het
Cdk5r1 G T 11: 80,477,743 A79S probably benign Het
Cdyl A T 13: 35,683,742 probably benign Het
Cfdp1 A G 8: 111,854,134 probably benign Het
Chil1 A T 1: 134,183,601 I62F probably damaging Het
Cnot1 A T 8: 95,755,078 I789K probably benign Het
Cobl T C 11: 12,254,371 K695R probably damaging Het
Cobl C A 11: 12,254,370 K752N probably damaging Het
Dcaf6 T C 1: 165,338,346 probably null Het
Ece2 A T 16: 20,632,648 I197F probably damaging Het
Eif2b5 T G 16: 20,502,786 V363G possibly damaging Het
Gca T C 2: 62,672,358 S37P probably benign Het
Ghsr A C 3: 27,372,496 I234L probably damaging Het
Grin3b A T 10: 79,972,889 I158F possibly damaging Het
Gtf2h2 A T 13: 100,481,239 D178E probably damaging Het
Herc2 A G 7: 56,097,498 E461G probably damaging Het
Hsph1 T A 5: 149,623,592 N531I possibly damaging Het
Lrp1b T C 2: 40,702,794 N3771S probably benign Het
Lrp8 T C 4: 107,834,755 probably null Het
Lvrn C T 18: 46,890,904 Q773* probably null Het
Mterf1b T C 5: 4,196,478 F40L possibly damaging Het
Nrg1 G A 8: 31,826,363 probably benign Het
Olfr1337 T A 4: 118,781,920 I222F possibly damaging Het
Olfr351 T A 2: 36,860,220 I43F probably damaging Het
Olfr507 T C 7: 108,622,673 I287T possibly damaging Het
Pax5 C T 4: 44,570,059 V319I probably damaging Het
Plcz1 T A 6: 140,010,581 T321S probably benign Het
Plekha6 A G 1: 133,284,938 E660G probably damaging Het
Prep T C 10: 45,067,332 M1T probably null Het
Prickle1 C T 15: 93,501,153 S598N possibly damaging Het
Prtn3 A G 10: 79,881,098 Q99R probably benign Het
Rad50 A G 11: 53,702,056 V89A probably damaging Het
Ret T C 6: 118,176,252 Y485C probably benign Het
Setd2 T A 9: 110,550,056 F980I possibly damaging Het
Slc44a4 A G 17: 34,921,303 Y228C probably damaging Het
Tex10 C T 4: 48,435,028 C779Y possibly damaging Het
Tfdp2 T G 9: 96,317,539 S285A probably benign Het
Thsd4 T A 9: 59,989,097 probably benign Het
Tmem106a A C 11: 101,590,393 E242D probably benign Het
Ttc22 T C 4: 106,638,472 V341A probably benign Het
Ubr4 T A 4: 139,410,784 S1151T probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Vmn1r206 A T 13: 22,620,890 L49* probably null Het
Vmn1r233 A T 17: 20,994,624 F21L probably benign Het
Vmn1r233 A T 17: 20,994,625 F21Y probably benign Het
Vmn2r15 A T 5: 109,293,268 C241* probably null Het
Zmym6 T A 4: 127,109,971 probably benign Het
Other mutations in Insl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Insl6 APN 19 29321553 missense possibly damaging 0.94
R0483:Insl6 UTSW 19 29321568 missense probably benign 0.28
R2350:Insl6 UTSW 19 29325245 missense possibly damaging 0.86
R4885:Insl6 UTSW 19 29325156 missense probably benign 0.23
R4962:Insl6 UTSW 19 29321619 missense probably damaging 1.00
R5071:Insl6 UTSW 19 29325255 missense probably benign 0.00
R5112:Insl6 UTSW 19 29321596 nonsense probably null
R7265:Insl6 UTSW 19 29321545 missense possibly damaging 0.92
Posted On2015-04-16