Mutagenetix > Incidental Mutation

Incidental Mutation 'R0218:Chac1'

33650

Institutional Source

Beutler Lab

Gene Symbol

Chac1

Ensembl Gene

ENSMUSG00000027313

Gene Name

ChaC, cation transport regulator 1

Synonyms

1810008K03Rik, Botch

MMRRC Submission

038467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0218 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

119181723-119184807 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119183941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 181 (L181*)

Ref Sequence

ENSEMBL: ENSMUSP00000028780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028780]

AlphaFold

Q8R3J5

Predicted Effect

probably null
Transcript: ENSMUST00000028780
AA Change: L181*

SMART Domains

Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: L181*

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:ChaC	34	209	2.2e-71	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,079,477 (GRCm39)	Q249P	probably benign	Het
Adgrv1	C	T	13: 81,255,017 (GRCm39)		probably null	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cd200r1	T	A	16: 44,609,106 (GRCm39)		probably benign	Het
Cdkl1	A	T	12: 69,836,809 (GRCm39)	D40E	probably benign	Het
Cdx1	A	G	18: 61,153,436 (GRCm39)		probably benign	Het
Cenpp	T	A	13: 49,801,108 (GRCm39)	K103N	possibly damaging	Het
Cep162	A	G	9: 87,093,862 (GRCm39)	Y839H	possibly damaging	Het
Ciapin1	G	T	8: 95,554,938 (GRCm39)	Q173K	probably damaging	Het
Cmklr2	T	A	1: 63,222,690 (GRCm39)	N182Y	probably benign	Het
Dgcr2	A	G	16: 17,667,650 (GRCm39)	C270R	probably damaging	Het
Dlc1	A	G	8: 37,317,383 (GRCm39)	S431P	probably benign	Het
Efcab12	T	C	6: 115,791,611 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,181,992 (GRCm39)		probably benign	Het
Enpp3	A	T	10: 24,652,767 (GRCm39)	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,390,512 (GRCm39)	T88A	probably benign	Het
Fancl	A	G	11: 26,421,337 (GRCm39)	K364E	probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Galc	A	G	12: 98,188,906 (GRCm39)	Y402H	probably damaging	Het
Gga2	T	C	7: 121,598,123 (GRCm39)	N324D	possibly damaging	Het
Hc	G	T	2: 34,918,086 (GRCm39)	F732L	probably damaging	Het
Heca	T	C	10: 17,791,463 (GRCm39)	M198V	probably benign	Het
Herc6	C	A	6: 57,596,586 (GRCm39)	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,929,398 (GRCm39)	M425K	probably benign	Het
Mael	C	T	1: 166,066,159 (GRCm39)	G26D	probably damaging	Het
Map1a	A	G	2: 121,135,906 (GRCm39)	T2241A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,701,894 (GRCm39)	S505P	probably damaging	Het
Mdm1	A	G	10: 117,992,783 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,312 (GRCm39)	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,154 (GRCm39)	E279G	possibly damaging	Het
Ms4a20	A	T	19: 11,093,801 (GRCm39)	Y10*	probably null	Het
Nfe2l1	A	T	11: 96,718,439 (GRCm39)	L32Q	probably damaging	Het
Npas1	C	T	7: 16,195,818 (GRCm39)	V285I	probably benign	Het
Or5e1	T	A	7: 108,354,781 (GRCm39)	C239*	probably null	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or9i14	T	C	19: 13,792,342 (GRCm39)	N204S	probably benign	Het
Osr1	A	G	12: 9,629,639 (GRCm39)	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,574,044 (GRCm39)	C265S	probably damaging	Het
Pramel27	A	G	4: 143,578,401 (GRCm39)	I220M	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Simc1	T	C	13: 54,674,417 (GRCm39)	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,297,056 (GRCm39)	F56L	probably benign	Het
Smg8	A	G	11: 86,976,948 (GRCm39)	L211P	probably damaging	Het
Sncaip	A	G	18: 53,040,400 (GRCm39)	S805G	probably benign	Het
Sra1	T	C	18: 36,809,662 (GRCm39)		probably benign	Het
Tas2r104	T	G	6: 131,662,055 (GRCm39)	D218A	probably damaging	Het
Unc45b	A	G	11: 82,802,686 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,075,040 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,225,007 (GRCm39)	L785*	probably null	Het
Zfp30	A	G	7: 29,493,063 (GRCm39)	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,901,072 (GRCm39)	T334A	probably benign	Het

Other mutations in Chac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Chac1	APN	2	119,184,040 (GRCm39)	missense	probably benign
IGL02611:Chac1	APN	2	119,183,934 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Chac1	UTSW	2	119,181,986 (GRCm39)	missense	probably damaging	1.00
R0862:Chac1	UTSW	2	119,183,950 (GRCm39)	missense	probably damaging	0.96
R0864:Chac1	UTSW	2	119,183,950 (GRCm39)	missense	probably damaging	0.96
R1734:Chac1	UTSW	2	119,183,939 (GRCm39)	missense	probably damaging	1.00
R5398:Chac1	UTSW	2	119,183,725 (GRCm39)	missense	possibly damaging	0.92
R5609:Chac1	UTSW	2	119,181,887 (GRCm39)	missense	unknown
R5641:Chac1	UTSW	2	119,181,999 (GRCm39)	missense	probably damaging	1.00
R6416:Chac1	UTSW	2	119,184,015 (GRCm39)	missense	probably damaging	0.98
R7877:Chac1	UTSW	2	119,183,987 (GRCm39)	missense	probably damaging	1.00
R8954:Chac1	UTSW	2	119,183,836 (GRCm39)	missense	probably damaging	1.00
R9360:Chac1	UTSW	2	119,182,854 (GRCm39)	missense	probably damaging	1.00
R9426:Chac1	UTSW	2	119,183,914 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ACGAGGCCCTGAAGTACCTGAATG -3'
(R):5'- TGATGTCCACCAGTACCACTCAGAC -3'

Sequencing Primer
(F):5'- CCCTGAAGTACCTGAATGTGAGG -3'
(R):5'- AGTACCACTCAGACACTTCTTG -3'

Posted On

2013-05-09