Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00907:Kin'

278061

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 #

IGL00907

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051 (GRCm38)	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,694,776 (GRCm39)	D502G	possibly damaging	Het
Brwd3	A	G	X: 107,827,852 (GRCm39)		probably benign	Het
Ccdc171	T	A	4: 83,782,486 (GRCm39)	H1259Q	probably damaging	Het
Chd7	T	C	4: 8,840,435 (GRCm39)	I1401T	probably damaging	Het
Csf1	T	C	3: 107,657,662 (GRCm39)	N76S	probably damaging	Het
Dld	A	G	12: 31,382,329 (GRCm39)		probably benign	Het
Eif5	T	A	12: 111,506,989 (GRCm39)	I141N	probably damaging	Het
Etl4	G	A	2: 20,771,289 (GRCm39)	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,432,500 (GRCm39)	R550W	probably damaging	Het
Hipk2	A	G	6: 38,795,208 (GRCm39)	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hsd17b2	A	T	8: 118,461,433 (GRCm39)	I157L	probably benign	Het
Ibtk	A	G	9: 85,572,384 (GRCm39)	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,334,764 (GRCm39)		probably benign	Het
Kir3dl1	G	A	X: 135,425,911 (GRCm39)	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,020,397 (GRCm39)	V383A	probably benign	Het
Mael	A	G	1: 166,032,418 (GRCm39)	Y314H	probably damaging	Het
Npat	T	C	9: 53,474,590 (GRCm39)	V794A	possibly damaging	Het
Nr4a2	T	A	2: 56,999,229 (GRCm39)	I340F	probably damaging	Het
Or4c103	A	G	2: 88,513,638 (GRCm39)	V146A	probably benign	Het
Or5p56	A	T	7: 107,590,097 (GRCm39)	D175V	probably damaging	Het
Or7g21	T	A	9: 19,032,528 (GRCm39)	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,096,003 (GRCm39)	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667 (GRCm39)	T264I	probably benign	Het
Sars2	G	T	7: 28,452,848 (GRCm39)		probably benign	Het
Scn1a	A	C	2: 66,158,141 (GRCm39)	S411A	probably damaging	Het
Srsf5	T	C	12: 80,994,608 (GRCm39)	V112A	probably damaging	Het
Susd2	T	C	10: 75,476,765 (GRCm39)	N206S	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	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	10,085,515 (GRCm39)	missense	probably damaging	1.00
IGL00941:Kin	APN	2	10,085,517 (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