Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02198:Clec2h'

284121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec2h

Ensembl Gene

ENSMUSG00000030364

Gene Name

C-type lectin domain family 2, member h

Synonyms

Clrf

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02198

Quality Score

Status

Chromosome

Chromosomal Location

128639348-128654337 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 128650979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 86 (C86*)

Ref Sequence

ENSEMBL: ENSMUSP00000145202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032518] [ENSMUST00000204416] [ENSMUST00000205225]

AlphaFold

Q8C1T8

Predicted Effect

probably null
Transcript: ENSMUST00000032518
AA Change: C86*

SMART Domains

Protein: ENSMUSP00000032518
Gene: ENSMUSG00000030364
AA Change: C86*

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
CLECT	90	201	3.83e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000204416
AA Change: C86*

SMART Domains

Protein: ENSMUSP00000145202
Gene: ENSMUSG00000030364
AA Change: C86*

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204728

Predicted Effect

probably benign
Transcript: ENSMUST00000205225

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	G	2: 131,388,412 (GRCm39)	I381T	probably damaging	Het
Armt1	T	A	10: 4,404,064 (GRCm39)	F383Y	possibly damaging	Het
Cdca2	A	G	14: 67,932,445 (GRCm39)	V486A	probably benign	Het
Cep78	A	G	19: 15,933,733 (GRCm39)	L615S	probably damaging	Het
Cntnap5a	C	T	1: 116,508,262 (GRCm39)	T1258I	probably benign	Het
Dhrs7c	T	A	11: 67,706,628 (GRCm39)	M262K	possibly damaging	Het
Dmpk	C	A	7: 18,822,117 (GRCm39)	F332L	probably damaging	Het
Dnaaf4	G	A	9: 72,876,348 (GRCm39)	V308I	probably benign	Het
Fap	A	G	2: 62,385,142 (GRCm39)	F73L	probably benign	Het
Igsf10	A	T	3: 59,233,399 (GRCm39)	I1778N	possibly damaging	Het
Il6ra	T	C	3: 89,797,655 (GRCm39)	T71A	probably benign	Het
Itpr2	C	A	6: 146,224,725 (GRCm39)	A1389S	probably damaging	Het
Mob3b	T	C	4: 35,083,983 (GRCm39)	N69D	probably damaging	Het
Nr1h3	A	G	2: 91,023,070 (GRCm39)	W21R	probably damaging	Het
Or4f56	A	T	2: 111,703,593 (GRCm39)	N202K	probably damaging	Het
Ovca2	A	G	11: 75,069,596 (GRCm39)	V9A	possibly damaging	Het
Ovch2	T	A	7: 107,394,041 (GRCm39)	K137N	probably damaging	Het
Pabpc1l	A	G	2: 163,869,536 (GRCm39)	N112S	probably damaging	Het
Plekho1	T	A	3: 95,899,496 (GRCm39)	N99I	probably damaging	Het
Recql5	A	C	11: 115,785,499 (GRCm39)	S666A	probably benign	Het
Scn3a	G	T	2: 65,338,833 (GRCm39)	H615Q	probably benign	Het
Sel1l3	A	G	5: 53,297,141 (GRCm39)		probably benign	Het
Slc38a2	A	T	15: 96,590,258 (GRCm39)	S328T	probably damaging	Het
Taok1	T	C	11: 77,466,503 (GRCm39)		probably benign	Het
Tsnax	T	A	8: 125,759,451 (GRCm39)	Y237*	probably null	Het
Ttn	T	A	2: 76,544,974 (GRCm39)	K24382N	probably damaging	Het
Ugt1a9	T	A	1: 87,999,165 (GRCm39)	V205E	possibly damaging	Het
Unc80	C	A	1: 66,569,145 (GRCm39)	D933E	possibly damaging	Het
Vnn1	A	T	10: 23,779,323 (GRCm39)	T411S	probably benign	Het
Wdr27	C	A	17: 15,128,860 (GRCm39)	G531V	possibly damaging	Het
Zfp760	G	T	17: 21,941,193 (GRCm39)	V123L	probably benign	Het

Other mutations in Clec2h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02828:Clec2h	APN	6	128,652,885 (GRCm39)	missense	probably benign	0.00
R0299:Clec2h	UTSW	6	128,647,858 (GRCm39)	missense	probably damaging	1.00
R1169:Clec2h	UTSW	6	128,651,758 (GRCm39)	nonsense	probably null
R1860:Clec2h	UTSW	6	128,652,790 (GRCm39)	missense	probably damaging	1.00
R1893:Clec2h	UTSW	6	128,647,795 (GRCm39)	missense	probably benign	0.06
R2240:Clec2h	UTSW	6	128,652,845 (GRCm39)	missense	probably benign	0.02
R2507:Clec2h	UTSW	6	128,650,945 (GRCm39)	missense	probably benign	0.02
R4530:Clec2h	UTSW	6	128,639,457 (GRCm39)	missense	possibly damaging	0.95
R4771:Clec2h	UTSW	6	128,651,118 (GRCm39)	missense	probably damaging	1.00
R4899:Clec2h	UTSW	6	128,652,787 (GRCm39)	missense	probably benign	0.03
R5228:Clec2h	UTSW	6	128,651,749 (GRCm39)	missense	probably benign	0.04
R5414:Clec2h	UTSW	6	128,651,749 (GRCm39)	missense	probably benign	0.04
R8058:Clec2h	UTSW	6	128,650,966 (GRCm39)	missense	probably benign	0.18

Posted On

2015-04-16