|Institutional Source||Beutler Lab|
|Gene Name||insulin-like 6|
|Synonyms||RIF1, relaxin/insulin-like factor 1|
|Is this an essential gene?||Probably non essential (E-score: 0.128)|
|Stock #||R4885 (G1)|
|Chromosomal Location||29321344-29325356 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 29325156 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 54 (E54K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052380]|
|Predicted Effect||probably benign
AA Change: E54K
PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: E54K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
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||
|Other mutations in Insl6||
(F):5'- ATTCACTGGCAGAGCAAAGTC -3'
(R):5'- TTCTGGAGAAGATTGCCTGC -3'
(F):5'- CTGGCAGAGCAAAGTCAAGGATAAG -3'
(R):5'- ATTGCCTGCGAGGGAGG -3'