Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01563:CK137956'

90900

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

CK137956

Ensembl Gene

ENSMUSG00000028813

Gene Name

cDNA sequence CK137956

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL01563

Quality Score

Status

Chromosome

Chromosomal Location

127821385-127864744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127864428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 67 (K67T)

Ref Sequence

ENSEMBL: ENSMUSP00000030614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030614]

AlphaFold

B1AYM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030614
AA Change: K67T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: K67T

Domain	Start	End	E-Value	Type
Pfam:DUF4688	197	596	3.8e-249	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,604,965 (GRCm39)	E2205G	probably damaging	Het
Arid2	G	A	15: 96,270,278 (GRCm39)	V1464I	probably damaging	Het
Axin2	A	G	11: 108,814,631 (GRCm39)	Q173R	probably damaging	Het
Best1	A	G	19: 9,964,099 (GRCm39)	F454L	probably benign	Het
Col14a1	G	A	15: 55,351,337 (GRCm39)	G1555R	unknown	Het
Csad	G	A	15: 102,095,598 (GRCm39)	S153F	probably damaging	Het
Cyp4f40	A	T	17: 32,892,930 (GRCm39)	D315V	probably damaging	Het
Galnt3	G	A	2: 65,928,101 (GRCm39)	A265V	probably damaging	Het
Gm5901	C	A	7: 105,026,722 (GRCm39)	Y163*	probably null	Het
Golga4	A	G	9: 118,356,074 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,469,399 (GRCm39)	D138G	probably damaging	Het
Has1	A	T	17: 18,063,924 (GRCm39)		probably benign	Het
Ighv1-42	A	G	12: 114,900,804 (GRCm39)	S94P	probably damaging	Het
Katnb1	T	A	8: 95,824,787 (GRCm39)	L569Q	probably damaging	Het
Nedd1	C	T	10: 92,534,031 (GRCm39)		probably null	Het
Or2b2	A	G	13: 21,887,243 (GRCm39)	E24G	probably benign	Het
Or8c15	T	A	9: 38,120,997 (GRCm39)	I214N	probably damaging	Het
Pdcd4	G	A	19: 53,917,552 (GRCm39)	R463H	probably benign	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ro60	A	G	1: 143,637,120 (GRCm39)	V364A	probably benign	Het
Rps19bp1	A	G	15: 80,145,532 (GRCm39)	M84T	probably benign	Het
Sass6	A	T	3: 116,398,847 (GRCm39)	D43V	probably damaging	Het
Senp6	G	A	9: 80,029,290 (GRCm39)	S551N	probably benign	Het
Sh2d2a	A	G	3: 87,759,432 (GRCm39)	E273G	probably damaging	Het
Slc16a14	T	C	1: 84,889,908 (GRCm39)		probably benign	Het
Smcr8	C	T	11: 60,674,671 (GRCm39)	R816C	possibly damaging	Het
Trappc8	A	T	18: 20,970,103 (GRCm39)	N962K	probably benign	Het
Trpc6	A	G	9: 8,656,604 (GRCm39)	E677G	probably damaging	Het
Ubap2	G	T	4: 41,195,998 (GRCm39)	P961T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vps41	T	C	13: 18,966,897 (GRCm39)		probably benign	Het
Vwf	A	T	6: 125,568,128 (GRCm39)	D341V	probably damaging	Het
Zfp618	C	T	4: 62,998,133 (GRCm39)	P45L	probably benign	Het

Other mutations in CK137956

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:CK137956	APN	4	127,829,643 (GRCm39)	missense	probably benign
IGL01365:CK137956	APN	4	127,845,135 (GRCm39)	missense	probably benign	0.01
IGL01834:CK137956	APN	4	127,840,442 (GRCm39)	missense	probably damaging	1.00
R0117:CK137956	UTSW	4	127,840,585 (GRCm39)	missense	possibly damaging	0.63
R0456:CK137956	UTSW	4	127,839,100 (GRCm39)	missense	probably damaging	0.99
R0492:CK137956	UTSW	4	127,845,093 (GRCm39)	missense	probably benign	0.03
R1793:CK137956	UTSW	4	127,845,242 (GRCm39)	missense	probably benign
R1869:CK137956	UTSW	4	127,864,327 (GRCm39)	missense	possibly damaging	0.92
R1932:CK137956	UTSW	4	127,840,651 (GRCm39)	missense	possibly damaging	0.89
R2011:CK137956	UTSW	4	127,844,829 (GRCm39)	missense	probably benign	0.25
R2030:CK137956	UTSW	4	127,845,180 (GRCm39)	missense	probably benign	0.23
R2032:CK137956	UTSW	4	127,839,069 (GRCm39)	missense	probably benign	0.38
R2135:CK137956	UTSW	4	127,845,433 (GRCm39)	splice site	probably benign
R2994:CK137956	UTSW	4	127,845,300 (GRCm39)	missense	probably benign	0.03
R3608:CK137956	UTSW	4	127,845,119 (GRCm39)	missense	probably damaging	1.00
R3895:CK137956	UTSW	4	127,840,441 (GRCm39)	missense	probably benign	0.01
R4165:CK137956	UTSW	4	127,864,522 (GRCm39)	missense	possibly damaging	0.83
R5610:CK137956	UTSW	4	127,840,440 (GRCm39)	critical splice donor site	probably null
R6861:CK137956	UTSW	4	127,864,519 (GRCm39)	missense	probably damaging	0.98
R7149:CK137956	UTSW	4	127,864,626 (GRCm39)	start codon destroyed	probably null	0.53
R8132:CK137956	UTSW	4	127,845,075 (GRCm39)	nonsense	probably null
R8688:CK137956	UTSW	4	127,844,739 (GRCm39)	missense	possibly damaging	0.88

Posted On

2013-12-09