Mutagenetix > Incidental Mutation

Incidental Mutation 'R9360:Chac1'

708612

Institutional Source

Beutler Lab

Gene Symbol

Chac1

Ensembl Gene

ENSMUSG00000027313

Gene Name

ChaC, cation transport regulator 1

Synonyms

1810008K03Rik, Botch

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9360 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119181723-119184807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119182854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 84 (T84I)

Ref Sequence

ENSEMBL: ENSMUSP00000028780 (fasta)

Gene Model

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

AlphaFold

Q8R3J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028780
AA Change: T84I

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

SMART Domains

Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: T84I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	G	12: 81,468,261 (GRCm39)	L120P	probably damaging	Het
Asb6	A	G	2: 30,714,334 (GRCm39)	S259P	probably damaging	Het
Atp6v0a2	C	A	5: 124,767,259 (GRCm39)	S7R	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cacna1h	G	A	17: 25,594,336 (GRCm39)	A2274V	probably benign	Het
Caml	A	C	13: 55,771,030 (GRCm39)	N43H	probably damaging	Het
Ccar2	A	G	14: 70,379,445 (GRCm39)	S518P	probably damaging	Het
Cdkl3	A	G	11: 51,924,349 (GRCm39)	I546V	probably null	Het
Col6a6	T	C	9: 105,644,686 (GRCm39)	T1201A	probably benign	Het
Csf1	T	C	3: 107,661,158 (GRCm39)	T120A	possibly damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Cyp4f17	C	T	17: 32,743,880 (GRCm39)	R353C	probably benign	Het
Depdc1a	A	G	3: 159,232,168 (GRCm39)	M640V	possibly damaging	Het
Dgkq	A	G	5: 108,798,469 (GRCm39)	V633A	probably damaging	Het
Fdft1	A	T	14: 63,415,189 (GRCm39)	Y14*	probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Ftdc1	T	C	16: 58,434,234 (GRCm39)	D161G	probably benign	Het
Gfm2	T	A	13: 97,289,752 (GRCm39)	V179E	probably damaging	Het
Gpr12	A	G	5: 146,520,299 (GRCm39)	F208L	probably benign	Het
Greb1	A	G	12: 16,790,037 (GRCm39)	S4P	probably damaging	Het
Hlcs	A	T	16: 93,932,672 (GRCm39)	I717N	probably damaging	Het
Hormad1	G	A	3: 95,483,622 (GRCm39)	A145T	probably benign	Het
Kcmf1	A	T	6: 72,838,826 (GRCm39)	C33*	probably null	Het
Kif13a	A	T	13: 46,962,472 (GRCm39)	S561T	probably benign	Het
Klhl20	G	T	1: 160,921,269 (GRCm39)	P571Q	probably benign	Het
Kpna6	A	T	4: 129,547,635 (GRCm39)	M304K	probably benign	Het
Krt75	T	C	15: 101,476,729 (GRCm39)	K387E	probably damaging	Het
Lum	A	T	10: 97,404,752 (GRCm39)	K216*	probably null	Het
Meioc	A	G	11: 102,565,779 (GRCm39)	N409S	probably benign	Het
Mrpl20	T	C	4: 155,888,402 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,593,943 (GRCm39)	I374N	probably benign	Het
Nbea	A	G	3: 55,943,319 (GRCm39)	I652T	possibly damaging	Het
Nhsl1	G	A	10: 18,194,898 (GRCm39)	G56R	probably damaging	Het
Obscn	T	C	11: 58,973,650 (GRCm39)	I1894V	probably benign	Het
Olig2	A	C	16: 91,023,774 (GRCm39)	T163P	probably damaging	Het
Or13c7c	A	G	4: 43,835,765 (GRCm39)	S242P	probably benign	Het
Or4g7	T	C	2: 111,309,684 (GRCm39)	I185T	probably benign	Het
Or5p81	T	A	7: 108,266,977 (GRCm39)	L118Q	probably damaging	Het
Or7e168	T	A	9: 19,720,529 (GRCm39)	V305D	possibly damaging	Het
Parp4	G	A	14: 56,878,775 (GRCm39)		probably null	Het
Pcdhb2	T	C	18: 37,429,551 (GRCm39)	I508T	probably damaging	Het
Pcdhga8	T	C	18: 37,859,787 (GRCm39)	F281S	probably damaging	Het
Pom121l12	T	A	11: 14,549,516 (GRCm39)	M74K	possibly damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Rhag	T	C	17: 41,142,548 (GRCm39)	V251A	possibly damaging	Het
Rrs1	A	G	1: 9,616,845 (GRCm39)	*366W	probably null	Het
Sgpp2	A	G	1: 78,367,143 (GRCm39)	D92G	probably damaging	Het
Slc44a3	C	A	3: 121,325,908 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,968,956 (GRCm39)	M257V	probably benign	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tet2	G	T	3: 133,192,903 (GRCm39)	N510K	possibly damaging	Het
Tgfbr3	T	C	5: 107,257,550 (GRCm39)	I836M	unknown	Het
Thada	A	G	17: 84,499,410 (GRCm39)	V1929A	probably benign	Het
Tram1l1	A	T	3: 124,115,899 (GRCm39)	D353V	probably damaging	Het
Trf	T	A	9: 103,094,734 (GRCm39)		probably null	Het
Trim15	A	T	17: 37,177,942 (GRCm39)	C18S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,952 (GRCm39)	I211T	probably damaging	Het
Zdhhc17	A	G	10: 110,783,165 (GRCm39)	V501A	probably benign	Het
Zfp563	A	G	17: 33,324,428 (GRCm39)	E341G	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
R0218:Chac1	UTSW	2	119,183,941 (GRCm39)	nonsense	probably null
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
R9426:Chac1	UTSW	2	119,183,914 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ATGAAAGGTCCTCTCCCAGG -3'
(R):5'- GAAGCAATACCCTTCACCCTATTTC -3'

Sequencing Primer
(F):5'- ATGTGGCCTCAAACTTGTGAC -3'
(R):5'- CTCATATAGTACAGGGTGTCTGACC -3'

Posted On

2022-04-18