Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01570:Kin'

91114

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kin

Ensembl Gene

ENSMUSG00000037262

Gene Name

Kin17 DNA and RNA binding protein

Synonyms

Kin17

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL01570

Quality Score

Status

Chromosome

Chromosomal Location

10080593-10092806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10091952 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 204 (T204M)

Ref Sequence

ENSEMBL: ENSMUSP00000043614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042290] [ENSMUST00000042512]

Predicted Effect

probably benign
Transcript: ENSMUST00000042290

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
VIT	60	189	4.35e-77	SMART
VWA	312	498	6.6e-32	SMART
Pfam:ITI_HC_C	740	925	1.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042512
AA Change: T204M

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262
AA Change: T204M

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: ENSMUST00000142599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142773

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,559,998	S54P	probably damaging	Het
Adam5	A	G	8: 24,810,823	V230A	probably damaging	Het
Arid4b	T	A	13: 14,186,809		probably benign	Het
Cep250	T	G	2: 155,967,663		probably benign	Het
Col28a1	T	A	6: 8,014,540	D955V	probably damaging	Het
Gm7676	A	G	8: 13,896,311		noncoding transcript	Het
Hao1	A	G	2: 134,554,200	S45P	probably damaging	Het
Hars2	A	T	18: 36,787,592	I163L	probably benign	Het
Iqgap1	T	C	7: 80,723,061	Y1510C	possibly damaging	Het
Itga4	G	A	2: 79,322,634		probably null	Het
Kif18b	G	A	11: 102,912,391	H498Y	probably benign	Het
Lmo7	T	C	14: 101,902,371		probably null	Het
Ltbp2	G	A	12: 84,794,033	T1009I	probably benign	Het
Mad1l1	A	G	5: 140,117,277	S489P	probably benign	Het
Memo1	A	G	17: 74,217,108		probably benign	Het
Myocd	T	A	11: 65,200,807	H103L	probably benign	Het
Nhlrc2	T	A	19: 56,574,787	F273I	possibly damaging	Het
Olfr385	C	A	11: 73,589,383	M118I	probably benign	Het
Olfr481	A	T	7: 108,081,273	T160S	probably benign	Het
Olfr978	T	C	9: 39,994,329	I173T	probably damaging	Het
Pappa2	A	C	1: 158,814,540	Y1315*	probably null	Het
Pdzk1ip1	C	T	4: 115,089,017	P25S	possibly damaging	Het
Ppp2r5d	A	T	17: 46,687,917	V73D	possibly damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Qars	C	T	9: 108,511,539	T266M	probably damaging	Het
Slc26a2	A	C	18: 61,198,260	C700G	possibly damaging	Het
Zfp638	C	A	6: 83,947,847	A724E	probably damaging	Het

Other mutations in Kin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Kin	APN	2	10080704	missense	probably damaging	1.00
IGL00898:Kin	APN	2	10080706	missense	probably damaging	1.00
IGL00907:Kin	APN	2	10080704	missense	probably damaging	1.00
IGL00907:Kin	APN	2	10080706	missense	probably damaging	1.00
IGL00941:Kin	APN	2	10080704	missense	probably damaging	1.00
IGL00941:Kin	APN	2	10080706	missense	probably damaging	1.00
IGL00971:Kin	APN	2	10090348	missense	possibly damaging	0.88
R0090:Kin	UTSW	2	10085773	missense	possibly damaging	0.53
R0656:Kin	UTSW	2	10085720	splice site	probably benign
R0827:Kin	UTSW	2	10090376	splice site	probably benign
R1530:Kin	UTSW	2	10092339	missense	probably damaging	1.00
R4879:Kin	UTSW	2	10080644	missense	probably benign	0.01
R6728:Kin	UTSW	2	10090148	missense	possibly damaging	0.95
R7191:Kin	UTSW	2	10091793	missense	probably benign	0.32
R7209:Kin	UTSW	2	10091753	missense	possibly damaging	0.46
R7242:Kin	UTSW	2	10091793	missense	probably benign	0.32
R7650:Kin	UTSW	2	10092168	missense	possibly damaging	0.95

Posted On

2013-12-09