Incidental Mutation 'R7624:Kiss1'
ID589297
Institutional Source Beutler Lab
Gene Symbol Kiss1
Ensembl Gene ENSMUSG00000116158
Gene Name
Synonymskisspeptin, metastin
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.705) question?
Stock #R7624 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location133321875-133329901 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133329422 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 53 (K53R)
Ref Sequence ENSEMBL: ENSMUSP00000142264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007433] [ENSMUST00000178033] [ENSMUST00000183489] [ENSMUST00000184603] [ENSMUST00000193888] [ENSMUST00000194044] [ENSMUST00000195286]
Predicted Effect possibly damaging
Transcript: ENSMUST00000007433
AA Change: K53R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000007433
Gene: ENSMUSG00000116158
AA Change: K53R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Kisspeptin 42 116 2.8e-37 PFAM
low complexity region 117 125 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178033
AA Change: K53R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136746
Gene: ENSMUSG00000116158
AA Change: K53R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Kisspeptin 41 116 7.1e-35 PFAM
low complexity region 117 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183489
SMART Domains Protein: ENSMUSP00000139189
Gene: ENSMUSG00000098306

DomainStartEndE-ValueType
Pfam:Got1 9 126 1.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184603
SMART Domains Protein: ENSMUSP00000138922
Gene: ENSMUSG00000098306

DomainStartEndE-ValueType
Pfam:Got1 9 123 2.5e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000193888
AA Change: K53R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142234
Gene: ENSMUSG00000115958
AA Change: K53R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Kisspeptin 41 116 7.1e-35 PFAM
low complexity region 117 125 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000194044
AA Change: K53R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141501
Gene: ENSMUSG00000115958
AA Change: K53R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Kisspeptin 41 116 7.1e-35 PFAM
low complexity region 117 125 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000195286
AA Change: K53R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142264
Gene: ENSMUSG00000115958
AA Change: K53R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Kisspeptin 41 116 7.1e-35 PFAM
low complexity region 117 125 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygote null mice are infertile with abnormal sexual maturation associated with hypogonadotropism [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm C A 9: 53,454,768 R2533L probably damaging Het
Caprin1 T A 2: 103,772,677 M514L possibly damaging Het
Ccdc78 A G 17: 25,787,152 E98G probably damaging Het
Cmya5 A T 13: 93,090,357 M2741K possibly damaging Het
Cnot1 T G 8: 95,751,819 R959S probably damaging Het
Col12a1 G T 9: 79,645,794 probably null Het
Col4a3 A G 1: 82,718,884 T177A probably benign Het
Cpa3 T C 3: 20,225,143 N211D possibly damaging Het
Cryba1 T C 11: 77,722,717 Y36C probably damaging Het
Ctnna1 T A 18: 35,244,844 I632N probably benign Het
D630045J12Rik T C 6: 38,149,563 N1504S probably damaging Het
Dgkz C A 2: 91,942,674 R346L probably damaging Het
Dnajc21 G A 15: 10,461,232 R211C probably benign Het
Dnajc21 A T 15: 10,461,234 I210N probably damaging Het
Dscam T C 16: 96,610,324 D1784G probably damaging Het
Eya3 A G 4: 132,672,951 T94A probably benign Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Fat3 T C 9: 15,959,869 D3742G possibly damaging Het
Ficd T C 5: 113,738,690 F309L probably benign Het
Gfra1 A T 19: 58,238,446 M451K probably benign Het
Gm43517 T A 12: 49,391,178 L318Q Het
Gsc A T 12: 104,473,051 V22E possibly damaging Het
Il4ra T C 7: 125,569,108 Y100H probably damaging Het
Ilf3 T C 9: 21,398,044 S486P probably benign Het
Itga10 T A 3: 96,652,953 H594Q probably benign Het
Kcnf1 T C 12: 17,176,136 D28G probably benign Het
Lcn5 A G 2: 25,661,414 I182V probably benign Het
Lcorl T C 5: 45,701,965 D269G probably benign Het
Letm2 A T 8: 25,592,537 C174* probably null Het
Met T G 6: 17,558,835 V1154G probably damaging Het
Mindy3 A G 2: 12,419,189 S22P probably benign Het
Mroh2b G A 15: 4,917,131 R471Q probably damaging Het
Nfe2l3 T C 6: 51,458,272 L604P probably damaging Het
Olfr1044 A T 2: 86,171,220 I199N possibly damaging Het
Olfr1145 A G 2: 87,810,339 Q173R probably damaging Het
Olfr186 T A 16: 59,027,019 Q296L possibly damaging Het
Olfr294 A G 7: 86,616,561 F28S possibly damaging Het
Olfr824 A C 10: 130,126,586 I157S probably damaging Het
Olfr918 C T 9: 38,672,623 V274I probably benign Het
Pcdha9 T A 18: 36,999,796 Y639* probably null Het
Pom121l2 A T 13: 21,983,529 I657L probably damaging Het
Prr14l T A 5: 32,829,623 T843S possibly damaging Het
Rln1 A T 19: 29,332,099 N93K probably damaging Het
Rpl3l A T 17: 24,732,427 M101L probably benign Het
Rtkn A G 6: 83,152,177 Y551C probably benign Het
Rundc1 G C 11: 101,433,479 R337P possibly damaging Het
Scarf1 T A 11: 75,514,416 probably null Het
Serpinb1b T A 13: 33,091,639 probably null Het
Sgsm1 A T 5: 113,274,335 C484* probably null Het
Slc22a19 T A 19: 7,673,303 K547* probably null Het
Slc22a19 T C 19: 7,693,818 T177A probably benign Het
Slc6a5 A C 7: 49,941,866 K526N probably benign Het
Sqle G A 15: 59,330,754 R519Q probably benign Het
Stard9 T C 2: 120,688,146 I517T probably benign Het
Taf15 A T 11: 83,505,023 D518V unknown Het
Tdgf1 C T 9: 110,945,949 probably benign Het
Tenm4 A G 7: 96,895,985 M2440V possibly damaging Het
Tm6sf1 A G 7: 81,868,710 M122V possibly damaging Het
Tmprss9 T A 10: 80,892,219 S548T possibly damaging Het
Trim62 A T 4: 128,883,678 probably benign Het
Ugt2b34 C T 5: 86,891,282 V507M possibly damaging Het
Usp16 T A 16: 87,476,805 M423K probably benign Het
Vmn1r199 T A 13: 22,382,736 S67T probably benign Het
Vmn1r62 A T 7: 5,675,601 M94L probably benign Het
Wnk4 G T 11: 101,264,354 E364* probably null Het
Xpo1 T A 11: 23,282,584 I368N probably damaging Het
Zfp366 A G 13: 99,246,296 T656A probably benign Het
Zfp934 T C 13: 62,518,524 M113V probably benign Het
Zkscan2 A G 7: 123,498,771 V134A probably damaging Het
Other mutations in Kiss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7206:Kiss1 UTSW 1 133327325 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TGCGTTTGAGGACCTAGCATC -3'
(R):5'- TGGCCTCTACAATCCACCTG -3'

Sequencing Primer
(F):5'- TTGAGGACCTAGCATCGGATG -3'
(R):5'- TGCAGCCCAGCACTCAG -3'
Posted On2019-10-24