Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01123:CK137956'

50938

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: 0.147) question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

127821385-127864744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127829643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 558 (T558S)

Ref Sequence

ENSEMBL: ENSMUSP00000030614 (fasta)

Gene Model

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

AlphaFold

B1AYM9

Predicted Effect

probably benign
Transcript: ENSMUST00000030614
AA Change: T558S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: T558S

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,849,934 (GRCm39)	D167E	probably damaging	Het
Aadat	A	T	8: 60,979,648 (GRCm39)	E170V	probably benign	Het
Acsf2	T	C	11: 94,461,276 (GRCm39)	E300G	probably benign	Het
Agbl3	C	T	6: 34,823,911 (GRCm39)	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,665,118 (GRCm39)		probably benign	Het
Arhgef40	C	A	14: 52,231,803 (GRCm39)	Q730K	probably damaging	Het
Armc3	C	T	2: 19,206,616 (GRCm39)	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,786,490 (GRCm39)	T233S	probably benign	Het
Bnc1	G	A	7: 81,623,455 (GRCm39)	Q591*	probably null	Het
Bsn	A	T	9: 107,993,185 (GRCm39)	F856I	probably damaging	Het
Coq8b	G	A	7: 26,939,509 (GRCm39)	V180I	probably damaging	Het
Csmd1	A	T	8: 17,584,944 (GRCm39)	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,496,152 (GRCm39)	S769P	possibly damaging	Het
Diras1	T	A	10: 80,858,249 (GRCm39)	M1L	probably damaging	Het
Fam161b	A	G	12: 84,404,438 (GRCm39)	W81R	probably benign	Het
Fat4	A	T	3: 39,011,418 (GRCm39)	I2173L	probably benign	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Gabrq	G	A	X: 71,880,439 (GRCm39)	D311N	probably benign	Het
Isl2	G	T	9: 55,452,746 (GRCm39)	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,666,052 (GRCm39)	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,735,029 (GRCm39)	M5378V	unknown	Het
Lrrc23	G	T	6: 124,755,782 (GRCm39)	D75E	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Matn1	T	C	4: 130,677,322 (GRCm39)	I177T	possibly damaging	Het
Mtor	T	C	4: 148,537,494 (GRCm39)	S60P	probably benign	Het
Naip6	T	C	13: 100,440,946 (GRCm39)	E278G	probably benign	Het
Nsun6	T	C	2: 15,053,789 (GRCm39)	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,887,076 (GRCm39)	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627 (GRCm39)	Q188*	probably null	Het
Pom121	A	T	5: 135,420,560 (GRCm39)	V287D	unknown	Het
Ptprq	A	T	10: 107,522,079 (GRCm39)	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,024,222 (GRCm39)	T178A	probably benign	Het
Pygm	A	G	19: 6,441,424 (GRCm39)	N473S	probably benign	Het
Ros1	A	T	10: 51,996,905 (GRCm39)	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,832,154 (GRCm39)	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,660,265 (GRCm39)	S6P	possibly damaging	Het
Sgca	T	A	11: 94,863,113 (GRCm39)	Q80L	probably damaging	Het
Skint6	A	G	4: 112,661,879 (GRCm39)	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 131,898,736 (GRCm39)	N600K	probably benign	Het
Spata20	T	C	11: 94,374,221 (GRCm39)	T350A	probably benign	Het
Syne1	G	T	10: 5,294,921 (GRCm39)	Y1227*	probably null	Het
Unc13c	T	C	9: 73,840,479 (GRCm39)	Y124C	probably benign	Het
Usp40	G	A	1: 87,913,845 (GRCm39)	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,579,571 (GRCm39)	W116R	probably benign	Het
Vps4a	T	C	8: 107,765,851 (GRCm39)		probably benign	Het
Zfyve16	A	G	13: 92,629,030 (GRCm39)	V1469A	probably damaging	Het

Other mutations in CK137956

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:CK137956	APN	4	127,845,135 (GRCm39)	missense	probably benign	0.01
IGL01563:CK137956	APN	4	127,864,428 (GRCm39)	missense	possibly damaging	0.94
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

2013-06-21