Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00941:Kin'

278097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kin

Ensembl Gene

ENSMUSG00000037262

Gene Name

Kin17 DNA and RNA binding protein

Synonyms

antigenic determinant of rec-A protein, Kin17

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

10085362-10097512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10085517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 26 (W26R)

Ref Sequence

ENSEMBL: ENSMUSP00000043614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026887] [ENSMUST00000042512] [ENSMUST00000114896] [ENSMUST00000114897] [ENSMUST00000130067] [ENSMUST00000139810] [ENSMUST00000153554] [ENSMUST00000145530]

AlphaFold

Q8K339

Predicted Effect

probably benign
Transcript: ENSMUST00000026887

SMART Domains

Protein: ENSMUSP00000026887
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	26	297	1.7e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042512
AA Change: W26R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262
AA Change: W26R

Domain	Start	End	E-Value	Type
ZnF_C2H2	26	50	2.35e1	SMART
Kin17_mid	52	178	5.41e-89	SMART
low complexity region	209	224	N/A	INTRINSIC
low complexity region	242	258	N/A	INTRINSIC
low complexity region	290	300	N/A	INTRINSIC
KOW	334	361	1.97e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104545

Predicted Effect

probably benign
Transcript: ENSMUST00000114896

SMART Domains

Protein: ENSMUSP00000110546
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	273	1.2e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114897

SMART Domains

Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	27	297	6.8e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130067

SMART Domains

Protein: ENSMUSP00000117182
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	101	2.1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139810

SMART Domains

Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	153	6.1e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142599

Predicted Effect

probably benign
Transcript: ENSMUST00000153554

SMART Domains

Protein: ENSMUSP00000116368
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	171	1.2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145530

SMART Domains

Protein: ENSMUSP00000116508
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	187	1.2e-45	PFAM

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 is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,536,104 (GRCm39)	I521S	probably damaging	Het
Ace	A	T	11: 105,870,376 (GRCm39)	K265I	probably benign	Het
Acss3	A	G	10: 106,889,187 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,153,082 (GRCm39)	Y215H	probably damaging	Het
Clk2	A	G	3: 89,082,729 (GRCm39)	M393V	probably damaging	Het
Cyc1	A	G	15: 76,229,365 (GRCm39)	I242V	probably benign	Het
Evpl	G	A	11: 116,118,727 (GRCm39)	L657F	probably benign	Het
Fbxw10	G	A	11: 62,764,327 (GRCm39)	V675M	probably damaging	Het
Fgf21	A	G	7: 45,264,597 (GRCm39)	V45A	probably damaging	Het
Gm5134	T	C	10: 75,836,255 (GRCm39)	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,208,749 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna12	A	T	4: 88,521,551 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,389,856 (GRCm39)	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,307,794 (GRCm39)	V73I	probably benign	Het
Mical2	T	C	7: 111,920,652 (GRCm39)		probably benign	Het
Mllt1	A	T	17: 57,202,086 (GRCm39)	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,501,740 (GRCm39)	H141L	probably benign	Het
Septin4	G	T	11: 87,480,599 (GRCm39)	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,270,727 (GRCm39)	F550L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Stk36	T	A	1: 74,663,093 (GRCm39)	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,471,808 (GRCm39)	A415T	probably benign	Het
Zfp839	C	A	12: 110,827,382 (GRCm39)	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,705,573 (GRCm39)	G95W	probably damaging	Het

Other mutations in Kin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Kin	APN	2	10,085,517 (GRCm39)	missense	probably damaging	1.00
IGL00898:Kin	APN	2	10,085,515 (GRCm39)	missense	probably damaging	1.00
IGL00907:Kin	APN	2	10,085,517 (GRCm39)	missense	probably damaging	1.00
IGL00907:Kin	APN	2	10,085,515 (GRCm39)	missense	probably damaging	1.00
IGL00941:Kin	APN	2	10,085,515 (GRCm39)	missense	probably damaging	1.00
IGL00971:Kin	APN	2	10,095,159 (GRCm39)	missense	possibly damaging	0.88
IGL01570:Kin	APN	2	10,096,763 (GRCm39)	missense	probably benign	0.05
R0090:Kin	UTSW	2	10,090,584 (GRCm39)	missense	possibly damaging	0.53
R0656:Kin	UTSW	2	10,090,531 (GRCm39)	splice site	probably benign
R0827:Kin	UTSW	2	10,095,187 (GRCm39)	splice site	probably benign
R1530:Kin	UTSW	2	10,097,150 (GRCm39)	missense	probably damaging	1.00
R4879:Kin	UTSW	2	10,085,455 (GRCm39)	missense	probably benign	0.01
R6728:Kin	UTSW	2	10,094,959 (GRCm39)	missense	possibly damaging	0.95
R7191:Kin	UTSW	2	10,096,604 (GRCm39)	missense	probably benign	0.32
R7209:Kin	UTSW	2	10,096,564 (GRCm39)	missense	possibly damaging	0.46
R7242:Kin	UTSW	2	10,096,604 (GRCm39)	missense	probably benign	0.32
R7650:Kin	UTSW	2	10,096,979 (GRCm39)	missense	possibly damaging	0.95
R9501:Kin	UTSW	2	10,085,478 (GRCm39)	missense	probably benign	0.21

Posted On

2015-04-16