Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL01834

Quality Score

Status

Chromosome

Chromosomal Location

127927592-127970951 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127946649 bp

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]

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
Aox2	A	G	1: 58,309,024	I634V	possibly damaging	Het
Atp13a4	T	G	16: 29,415,777		probably benign	Het
BC049715	A	T	6: 136,840,491	Q243L	probably benign	Het
C2cd6	G	A	1: 58,997,445		probably benign	Het
Cd2ap	C	T	17: 42,826,360		probably null	Het
Cd2ap	T	A	17: 42,826,361		probably null	Het
Cd86	G	A	16: 36,607,119	R283W	probably benign	Het
Coro2b	G	A	9: 62,431,357	T193I	possibly damaging	Het
Dido1	G	A	2: 180,684,031		probably benign	Het
Fas	A	G	19: 34,318,603	T149A	probably benign	Het
Gbp4	T	A	5: 105,125,602	I121F	probably damaging	Het
Hes3	C	T	4: 152,287,100	A106T	probably damaging	Het
Hyal2	T	C	9: 107,570,906	Y253H	probably damaging	Het
Kcnt1	T	C	2: 25,912,719		probably null	Het
Klhl12	C	A	1: 134,489,420	R557S	probably damaging	Het
Kmt2c	T	C	5: 25,395,455	T315A	probably benign	Het
Mchr1	A	G	15: 81,237,865	Y272C	probably damaging	Het
Mroh7	T	C	4: 106,680,874	I1202V	probably benign	Het
Mrpl38	T	A	11: 116,135,314	K87*	probably null	Het
Msh6	A	G	17: 87,985,712	T632A	probably damaging	Het
Myo9b	C	A	8: 71,355,257	H1630Q	possibly damaging	Het
Myo9b	T	C	8: 71,356,318	I1767T	probably damaging	Het
Naprt	A	G	15: 75,893,799	F92S	probably damaging	Het
Nsd3	T	A	8: 25,640,652	I11N	probably damaging	Het
Olfr290	A	G	7: 84,916,652	Y291C	probably damaging	Het
Otof	T	C	5: 30,399,220	T306A	probably damaging	Het
Pcdh18	A	G	3: 49,756,830	F12S	probably benign	Het
Pcdhb12	A	T	18: 37,437,639	N613Y	probably damaging	Het
Polr1a	T	C	6: 71,948,462	I731T	probably benign	Het
Ptprd	G	A	4: 76,128,595	T465I	probably damaging	Het
Rabgap1	A	G	2: 37,564,761		probably benign	Het
Ryr2	T	A	13: 11,595,425	I607L	possibly damaging	Het
Slc39a9	G	A	12: 80,673,299		probably benign	Het
Srek1	C	A	13: 103,748,785		probably benign	Het
Ssb	A	G	2: 69,870,803	T377A	possibly damaging	Het
Sympk	G	T	7: 19,043,435	A537S	probably benign	Het
Tcf20	A	G	15: 82,855,697	S518P	probably damaging	Het
Ttc39d	A	G	17: 80,216,046	K45E	probably benign	Het
Vmn1r40	T	C	6: 89,714,572	F124L	possibly damaging	Het
Vmn2r69	A	G	7: 85,412,368	Y133H	probably damaging	Het
Vmn2r79	A	T	7: 87,037,146	E578D	probably benign	Het
Vwf	G	A	6: 125,590,170		probably benign	Het
Zbtb11	A	G	16: 55,991,008	N510D	probably benign	Het

Other mutations in CK137956

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:CK137956	APN	4	127935850	missense	probably benign
IGL01365:CK137956	APN	4	127951342	missense	probably benign	0.01
IGL01563:CK137956	APN	4	127970635	missense	possibly damaging	0.94
R0117:CK137956	UTSW	4	127946792	missense	possibly damaging	0.63
R0456:CK137956	UTSW	4	127945307	missense	probably damaging	0.99
R0492:CK137956	UTSW	4	127951300	missense	probably benign	0.03
R1793:CK137956	UTSW	4	127951449	missense	probably benign
R1869:CK137956	UTSW	4	127970534	missense	possibly damaging	0.92
R1932:CK137956	UTSW	4	127946858	missense	possibly damaging	0.89
R2011:CK137956	UTSW	4	127951036	missense	probably benign	0.25
R2030:CK137956	UTSW	4	127951387	missense	probably benign	0.23
R2032:CK137956	UTSW	4	127945276	missense	probably benign	0.38
R2135:CK137956	UTSW	4	127951640	splice site	probably benign
R2994:CK137956	UTSW	4	127951507	missense	probably benign	0.03
R3608:CK137956	UTSW	4	127951326	missense	probably damaging	1.00
R3895:CK137956	UTSW	4	127946648	missense	probably benign	0.01
R4165:CK137956	UTSW	4	127970729	missense	possibly damaging	0.83
R5610:CK137956	UTSW	4	127946647	critical splice donor site	probably null
R6861:CK137956	UTSW	4	127970726	missense	probably damaging	0.98
R7149:CK137956	UTSW	4	127970833	start codon destroyed	probably null	0.53
R8132:CK137956	UTSW	4	127951282	nonsense	probably null

Posted On

2014-02-04