Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02486:Chac2'

295442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chac2

Ensembl Gene

ENSMUSG00000020309

Gene Name

ChaC, cation transport regulator 2

Synonyms

2510006C20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

IGL02486

Quality Score

Status

Chromosome

Chromosomal Location

30926707-30936350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30927625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000020553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020551] [ENSMUST00000020553] [ENSMUST00000101394] [ENSMUST00000117883] [ENSMUST00000137306] [ENSMUST00000203878]

AlphaFold

Q9CQG1

Predicted Effect

probably benign
Transcript: ENSMUST00000020551

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART
SOCS_box	460	502	2.1e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000020553
AA Change: D86G

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

SMART Domains

Protein: ENSMUSP00000020553
Gene: ENSMUSG00000020309
AA Change: D86G

Domain	Start	End	E-Value	Type
Pfam:ChaC	1	162	2.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101394
AA Change: D98G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098942
Gene: ENSMUSG00000020309
AA Change: D98G

Domain	Start	End	E-Value	Type
Pfam:ChaC	1	174	5.9e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117883

SMART Domains

Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137306

SMART Domains

Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	4.3e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148163

Predicted Effect

probably benign
Transcript: ENSMUST00000203878

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
ANK	48	77	3.5e-2	SMART
ANK	81	110	8e-3	SMART
ANK	117	146	4.8e-5	SMART
ANK	150	179	1.7e-7	SMART
ANK	184	213	1.8e-4	SMART
ANK	217	246	1.8e-6	SMART
ANK	250	279	1.2e-7	SMART
ANK	285	315	1.1e0	SMART
ANK	318	347	1.2e-3	SMART
ANK	354	385	7.7e-1	SMART
SOCS	493	542	2.8e-4	SMART
SOCS_box	499	541	1.6e-17	SMART

Meta Mutation Damage Score

0.1030

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010106E10Rik	T	A	X: 111,424,955 (GRCm39)	N147K	probably benign	Het
Abtb3	C	A	10: 85,476,419 (GRCm39)	P900H	probably damaging	Het
Bcas1	T	C	2: 170,248,318 (GRCm39)	D201G	probably damaging	Het
Bmp1	T	A	14: 70,742,216 (GRCm39)	D333V	possibly damaging	Het
Capn6	T	C	X: 142,587,673 (GRCm39)	E535G	probably benign	Het
Cdin1	T	C	2: 115,607,487 (GRCm39)	V280A	possibly damaging	Het
Col14a1	T	A	15: 55,252,092 (GRCm39)		probably benign	Het
Daam1	T	C	12: 71,993,919 (GRCm39)		probably benign	Het
Elapor2	T	A	5: 9,472,323 (GRCm39)	V340E	probably benign	Het
Eno4	A	G	19: 58,934,097 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,478,109 (GRCm39)	V2385A	probably benign	Het
Ffar4	T	C	19: 38,102,208 (GRCm39)	I281T	possibly damaging	Het
Flcn	C	T	11: 59,691,869 (GRCm39)	W260*	probably null	Het
Fry	T	G	5: 150,414,642 (GRCm39)	S496A	probably damaging	Het
Gk	T	A	X: 84,759,274 (GRCm39)	I373F	possibly damaging	Het
Gpr108	T	C	17: 57,542,977 (GRCm39)	N528S	probably damaging	Het
Hey1	T	A	3: 8,731,579 (GRCm39)	R50W	probably damaging	Het
Hgf	A	G	5: 16,807,287 (GRCm39)	Y393C	probably damaging	Het
Hmcn2	A	T	2: 31,310,107 (GRCm39)	E3260D	probably damaging	Het
Ift172	A	G	5: 31,414,927 (GRCm39)	I1365T	probably damaging	Het
Letmd1	A	G	15: 100,372,992 (GRCm39)	R31G	probably damaging	Het
Mak16	T	C	8: 31,650,614 (GRCm39)		probably benign	Het
Mapkapk3	C	T	9: 107,166,467 (GRCm39)	G26D	probably damaging	Het
Mphosph8	T	C	14: 56,925,844 (GRCm39)	V603A	possibly damaging	Het
Myom1	G	T	17: 71,406,939 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,172,615 (GRCm39)	N1564I	possibly damaging	Het
Nox1	C	T	X: 132,993,560 (GRCm39)	G433D	probably damaging	Het
Or11h6	T	C	14: 50,880,089 (GRCm39)	F111S	probably damaging	Het
Or2n1b	T	A	17: 38,460,112 (GRCm39)	L211Q	probably damaging	Het
Or51i2	T	C	7: 103,689,617 (GRCm39)	S205P	probably damaging	Het
Or52m1	A	T	7: 102,289,627 (GRCm39)	H58L	probably damaging	Het
Rcc2	T	C	4: 140,437,673 (GRCm39)	W135R	probably damaging	Het
Rgl2	A	G	17: 34,154,954 (GRCm39)	I205V	probably damaging	Het
Robo4	G	A	9: 37,319,670 (GRCm39)	G640E	probably damaging	Het
Slc26a5	A	G	5: 22,051,323 (GRCm39)	F64L	probably damaging	Het
Slc27a2	A	G	2: 126,395,270 (GRCm39)	T66A	probably benign	Het
St18	T	C	1: 6,890,307 (GRCm39)	S580P	probably damaging	Het
Syt15	G	A	14: 33,944,933 (GRCm39)	R160K	probably damaging	Het
Tmem63b	A	G	17: 45,984,909 (GRCm39)	S200P	probably damaging	Het
Tnks	T	A	8: 35,318,352 (GRCm39)	N841I	probably damaging	Het
Tnr	G	A	1: 159,679,664 (GRCm39)		probably null	Het
Unc13d	A	G	11: 115,960,632 (GRCm39)		probably benign	Het
Usp4	T	C	9: 108,228,228 (GRCm39)	L74P	probably damaging	Het

Other mutations in Chac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00956:Chac2	APN	11	30,936,225 (GRCm39)	missense	probably damaging	1.00
IGL03386:Chac2	APN	11	30,927,720 (GRCm39)	missense	probably benign	0.30
IGL02837:Chac2	UTSW	11	30,927,496 (GRCm39)	missense	probably damaging	1.00
R1820:Chac2	UTSW	11	30,927,496 (GRCm39)	missense	probably damaging	1.00
R1832:Chac2	UTSW	11	30,927,568 (GRCm39)	missense	probably benign	0.00
R2319:Chac2	UTSW	11	30,936,252 (GRCm39)	intron	probably benign
R6084:Chac2	UTSW	11	30,936,159 (GRCm39)	missense	probably damaging	1.00
R6348:Chac2	UTSW	11	30,927,406 (GRCm39)	missense	probably damaging	0.98
R6500:Chac2	UTSW	11	30,927,625 (GRCm39)	missense	probably damaging	1.00
R8340:Chac2	UTSW	11	30,927,511 (GRCm39)	missense	probably damaging	1.00
R9014:Chac2	UTSW	11	30,936,158 (GRCm39)	missense	probably damaging	1.00
R9707:Chac2	UTSW	11	30,929,572 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16