Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02628:Cmc1'

301171

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cmc1

Ensembl Gene

ENSMUSG00000039163

Gene Name

C-X9-C motif containing 1

Synonyms

2010110K16Rik, 2010312P05Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

IGL02628

Quality Score

Status

Chromosome

Chromosomal Location

117893590-117979245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117894376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 33 (Y33H)

Ref Sequence

ENSEMBL: ENSMUSP00000150859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044220] [ENSMUST00000044454] [ENSMUST00000133580] [ENSMUST00000134433] [ENSMUST00000215799] [ENSMUST00000154583] [ENSMUST00000135251]

AlphaFold

Q9CPZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044220
AA Change: Y81H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047904
Gene: ENSMUSG00000039163
AA Change: Y81H

Domain	Start	End	E-Value	Type
Pfam:Cmc1	19	87	5.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044454

SMART Domains

Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
coiled coil region	40	197	N/A	INTRINSIC
Pfam:TBD	224	278	4.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123690

SMART Domains

Protein: ENSMUSP00000121245
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
Pfam:TBD	1	51	4.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130735

SMART Domains

Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
coiled coil region	22	123	N/A	INTRINSIC
Pfam:TBD	153	197	3.8e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133580

SMART Domains

Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
coiled coil region	40	197	N/A	INTRINSIC
Pfam:TBD	226	278	1.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133814

Predicted Effect

probably benign
Transcript: ENSMUST00000134433

SMART Domains

Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
coiled coil region	40	197	N/A	INTRINSIC
Pfam:TBD	224	273	1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215799
AA Change: Y33H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000154583

SMART Domains

Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
coiled coil region	40	83	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135251

SMART Domains

Protein: ENSMUSP00000116971
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
coiled coil region	20	50	N/A	INTRINSIC
Pfam:TBD	77	131	1.1e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	T	A	12: 71,001,430 (GRCm39)		probably null	Het
Ankhd1	T	C	18: 36,780,756 (GRCm39)	V1936A	probably benign	Het
Ap3m1	C	A	14: 21,095,588 (GRCm39)	E81*	probably null	Het
Camkk1	T	C	11: 72,919,995 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntnap5b	A	T	1: 99,999,794 (GRCm39)	D184V	probably damaging	Het
F5	A	T	1: 164,021,644 (GRCm39)	D1373V	probably damaging	Het
Fam169a	T	C	13: 97,247,796 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,639,019 (GRCm39)	R328W	probably damaging	Het
Gba2	T	C	4: 43,568,919 (GRCm39)	R579G	probably benign	Het
Gm42641	G	A	9: 108,887,698 (GRCm39)	Q98*	probably null	Het
Hsd17b7	A	G	1: 169,792,058 (GRCm39)	F117L	possibly damaging	Het
Itsn1	A	G	16: 91,696,511 (GRCm39)	D38G	possibly damaging	Het
Map1a	T	C	2: 121,130,585 (GRCm39)	I467T	probably damaging	Het
Map2k4	T	A	11: 65,581,567 (GRCm39)	I382F	possibly damaging	Het
Myh1	T	G	11: 67,097,088 (GRCm39)		probably benign	Het
Nr1h4	C	T	10: 89,309,701 (GRCm39)	A339T	probably damaging	Het
Opn4	T	A	14: 34,315,014 (GRCm39)	T420S	probably benign	Het
Or5h22	A	C	16: 58,895,155 (GRCm39)	M96R	probably benign	Het
Or6n1	A	G	1: 173,916,756 (GRCm39)	Y50C	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc17a3	T	A	13: 24,026,434 (GRCm39)	M1K	probably null	Het
T	T	A	17: 8,654,190 (GRCm39)	I125N	probably damaging	Het
Tns2	T	A	15: 102,020,263 (GRCm39)	S710T	probably benign	Het
Trav3-1	T	A	14: 52,818,551 (GRCm39)	V75E	probably benign	Het
U2surp	A	G	9: 95,354,143 (GRCm39)	Y832H	possibly damaging	Het
Zng1	T	A	19: 24,935,269 (GRCm39)	E78D	probably damaging	Het

Other mutations in Cmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01628:Cmc1	APN	9	117,944,452 (GRCm39)	missense	probably benign	0.00
R0122:Cmc1	UTSW	9	117,894,388 (GRCm39)	missense	probably damaging	1.00
R4739:Cmc1	UTSW	9	117,904,245 (GRCm39)	missense	probably benign	0.27
R5761:Cmc1	UTSW	9	117,944,443 (GRCm39)	missense	probably benign	0.07
R7289:Cmc1	UTSW	9	117,904,250 (GRCm39)	missense	possibly damaging	0.63

Posted On

2015-04-16