Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Kiss1'

589297

Institutional Source

Beutler Lab

Gene Symbol

Kiss1

Ensembl Gene

ENSMUSG00000116158

Gene Name

KiSS-1 metastasis-suppressor

Synonyms

kisspeptin, metastin

MMRRC Submission

045689-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133249625-133257460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133257160 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

no structure available at present

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Got1	9	126	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184603

SMART Domains

Protein: ENSMUSP00000138922
Gene: ENSMUSG00000098306

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,366,068 (GRCm39)	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,603,022 (GRCm39)	M514L	possibly damaging	Het
Ccdc78	A	G	17: 26,006,126 (GRCm39)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,226,865 (GRCm39)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 96,478,447 (GRCm39)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,553,076 (GRCm39)		probably null	Het
Col4a3	A	G	1: 82,696,605 (GRCm39)	T177A	probably benign	Het
Cpa3	T	C	3: 20,279,307 (GRCm39)	N211D	possibly damaging	Het
Cripto	C	T	9: 110,775,017 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,613,543 (GRCm39)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,377,897 (GRCm39)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,126,498 (GRCm39)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,773,019 (GRCm39)	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,318 (GRCm39)	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,320 (GRCm39)	I210N	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Eya3	A	G	4: 132,400,262 (GRCm39)	T94A	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,871,165 (GRCm39)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,876,751 (GRCm39)	F309L	probably benign	Het
Gfra1	A	T	19: 58,226,878 (GRCm39)	M451K	probably benign	Het
Gm43517	T	A	12: 49,437,961 (GRCm39)	L318Q		Het
Gsc	A	T	12: 104,439,310 (GRCm39)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,168,280 (GRCm39)	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Itga10	T	A	3: 96,560,269 (GRCm39)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,226,137 (GRCm39)	D28G	probably benign	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Lcorl	T	C	5: 45,859,307 (GRCm39)	D269G	probably benign	Het
Letm2	A	T	8: 26,082,553 (GRCm39)	C174*	probably null	Het
Met	T	G	6: 17,558,834 (GRCm39)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,424,000 (GRCm39)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,946,613 (GRCm39)	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,435,252 (GRCm39)	L604P	probably damaging	Het
Or12e10	A	G	2: 87,640,683 (GRCm39)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,265,769 (GRCm39)	F28S	possibly damaging	Het
Or5h18	T	A	16: 58,847,382 (GRCm39)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,583,919 (GRCm39)	V274I	probably benign	Het
Or8u9	A	T	2: 86,001,564 (GRCm39)	I199N	possibly damaging	Het
Or9r7	A	C	10: 129,962,455 (GRCm39)	I157S	probably damaging	Het
Pcdha9	T	A	18: 37,132,849 (GRCm39)	Y639*	probably null	Het
Pom121l2	A	T	13: 22,167,699 (GRCm39)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,986,967 (GRCm39)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,309,499 (GRCm39)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,951,401 (GRCm39)	M101L	probably benign	Het
Rtkn	A	G	6: 83,129,158 (GRCm39)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,324,305 (GRCm39)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,405,242 (GRCm39)		probably null	Het
Serpinb1b	T	A	13: 33,275,622 (GRCm39)		probably null	Het
Sgsm1	A	T	5: 113,422,201 (GRCm39)	C484*	probably null	Het
Slc22a19	T	A	19: 7,650,668 (GRCm39)	K547*	probably null	Het
Slc22a19	T	C	19: 7,671,183 (GRCm39)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,591,614 (GRCm39)	K526N	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stard9	T	C	2: 120,518,627 (GRCm39)	I517T	probably benign	Het
Taf15	A	T	11: 83,395,849 (GRCm39)	D518V	unknown	Het
Tenm4	A	G	7: 96,545,192 (GRCm39)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,518,458 (GRCm39)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,728,053 (GRCm39)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,777,471 (GRCm39)		probably benign	Het
Ugt2b34	C	T	5: 87,039,141 (GRCm39)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,273,693 (GRCm39)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,566,906 (GRCm39)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,678,600 (GRCm39)	M94L	probably benign	Het
Wnk4	G	T	11: 101,155,180 (GRCm39)	E364*	probably null	Het
Xpo1	T	A	11: 23,232,584 (GRCm39)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,382,804 (GRCm39)	T656A	probably benign	Het
Zfp934	T	C	13: 62,666,338 (GRCm39)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,097,994 (GRCm39)	V134A	probably damaging	Het

Other mutations in Kiss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7206:Kiss1	UTSW	1	133,255,063 (GRCm39)	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 On

2019-10-24