Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01834:CK137956'

154866

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 #

IGL01834

Quality Score

Status

Chromosome

Chromosomal Location

127821385-127864744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127840442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 421 (K421N)

Ref Sequence

ENSEMBL: ENSMUSP00000030614 (fasta)

Gene Model

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

AlphaFold

B1AYM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030614
AA Change: K421N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: K421N

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	G	1: 58,348,183 (GRCm39)	I634V	possibly damaging	Het
Atp13a4	T	G	16: 29,234,595 (GRCm39)		probably benign	Het
BC049715	A	T	6: 136,817,489 (GRCm39)	Q243L	probably benign	Het
C2cd6	G	A	1: 59,036,604 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,137,251 (GRCm39)		probably null	Het
Cd2ap	T	A	17: 43,137,252 (GRCm39)		probably null	Het
Cd86	G	A	16: 36,427,481 (GRCm39)	R283W	probably benign	Het
Coro2b	G	A	9: 62,338,639 (GRCm39)	T193I	possibly damaging	Het
Dido1	G	A	2: 180,325,824 (GRCm39)		probably benign	Het
Fas	A	G	19: 34,296,003 (GRCm39)	T149A	probably benign	Het
Gbp4	T	A	5: 105,273,468 (GRCm39)	I121F	probably damaging	Het
Hes3	C	T	4: 152,371,557 (GRCm39)	A106T	probably damaging	Het
Hyal2	T	C	9: 107,448,105 (GRCm39)	Y253H	probably damaging	Het
Kcnt1	T	C	2: 25,802,731 (GRCm39)		probably null	Het
Klhl12	C	A	1: 134,417,158 (GRCm39)	R557S	probably damaging	Het
Kmt2c	T	C	5: 25,600,453 (GRCm39)	T315A	probably benign	Het
Mchr1	A	G	15: 81,122,066 (GRCm39)	Y272C	probably damaging	Het
Mroh7	T	C	4: 106,538,071 (GRCm39)	I1202V	probably benign	Het
Mrpl38	T	A	11: 116,026,140 (GRCm39)	K87*	probably null	Het
Msh6	A	G	17: 88,293,140 (GRCm39)	T632A	probably damaging	Het
Myo9b	C	A	8: 71,807,901 (GRCm39)	H1630Q	possibly damaging	Het
Myo9b	T	C	8: 71,808,962 (GRCm39)	I1767T	probably damaging	Het
Naprt	A	G	15: 75,765,648 (GRCm39)	F92S	probably damaging	Het
Nsd3	T	A	8: 26,130,668 (GRCm39)	I11N	probably damaging	Het
Or5ae1	A	G	7: 84,565,860 (GRCm39)	Y291C	probably damaging	Het
Otof	T	C	5: 30,556,564 (GRCm39)	T306A	probably damaging	Het
Pcdh18	A	G	3: 49,711,279 (GRCm39)	F12S	probably benign	Het
Pcdhb12	A	T	18: 37,570,692 (GRCm39)	N613Y	probably damaging	Het
Polr1a	T	C	6: 71,925,446 (GRCm39)	I731T	probably benign	Het
Ptprd	G	A	4: 76,046,832 (GRCm39)	T465I	probably damaging	Het
Rabgap1	A	G	2: 37,454,773 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,610,311 (GRCm39)	I607L	possibly damaging	Het
Slc39a9	G	A	12: 80,720,073 (GRCm39)		probably benign	Het
Srek1	C	A	13: 103,885,293 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,701,147 (GRCm39)	T377A	possibly damaging	Het
Sympk	G	T	7: 18,777,360 (GRCm39)	A537S	probably benign	Het
Tcf20	A	G	15: 82,739,898 (GRCm39)	S518P	probably damaging	Het
Ttc39d	A	G	17: 80,523,475 (GRCm39)	K45E	probably benign	Het
Vmn1r40	T	C	6: 89,691,554 (GRCm39)	F124L	possibly damaging	Het
Vmn2r69	A	G	7: 85,061,576 (GRCm39)	Y133H	probably damaging	Het
Vmn2r79	A	T	7: 86,686,354 (GRCm39)	E578D	probably benign	Het
Vwf	G	A	6: 125,567,133 (GRCm39)		probably benign	Het
Zbtb11	A	G	16: 55,811,371 (GRCm39)	N510D	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
IGL01563:CK137956	APN	4	127,864,428 (GRCm39)	missense	possibly damaging	0.94
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

2014-02-04