Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Chac1'

517911

Institutional Source

Beutler Lab

Gene Symbol

Chac1

Ensembl Gene

ENSMUSG00000027313

Gene Name

ChaC, cation transport regulator 1

Synonyms

1810008K03Rik, Botch

MMRRC Submission

044558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6416 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

119181723-119184807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119184015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 206 (V206I)

Ref Sequence

ENSEMBL: ENSMUSP00000028780 (fasta)

Gene Model

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

AlphaFold

Q8R3J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028780
AA Change: V206I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: V206I

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,504,779 (GRCm39)	R6L	unknown	Het
Anxa11	A	G	14: 25,874,694 (GRCm39)	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,199,065 (GRCm39)	M1K	probably null	Het
Atl2	G	A	17: 80,157,652 (GRCm39)	T563I	probably benign	Het
Azin1	A	T	15: 38,492,587 (GRCm39)	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,157,077 (GRCm39)	T118A	probably benign	Het
Chrm3	A	G	13: 9,927,698 (GRCm39)	V446A	probably benign	Het
Cped1	T	C	6: 22,123,648 (GRCm39)	F467S	probably damaging	Het
Csmd3	G	A	15: 48,536,956 (GRCm39)	P82L	probably damaging	Het
Ddx60	T	A	8: 62,430,984 (GRCm39)	S840T	probably benign	Het
Ddx60	C	T	8: 62,451,715 (GRCm39)	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,984,609 (GRCm39)	N3102K	probably benign	Het
Dst	A	T	1: 34,155,209 (GRCm39)	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,785 (GRCm39)	I839M	probably benign	Het
Fam184b	T	A	5: 45,694,995 (GRCm39)	M750L	probably benign	Het
Frem2	T	C	3: 53,479,799 (GRCm39)	T1965A	probably benign	Het
Ftl1	A	T	7: 45,108,634 (GRCm39)	D41E	probably benign	Het
Garem2	G	A	5: 30,321,735 (GRCm39)	W698*	probably null	Het
Glt8d2	T	C	10: 82,488,740 (GRCm39)	Y283C	probably damaging	Het
Hars1	T	C	18: 36,906,643 (GRCm39)	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,605,036 (GRCm39)	S121P	probably damaging	Het
Hus1b	A	T	13: 31,131,188 (GRCm39)	L157Q	probably damaging	Het
Hykk	A	G	9: 54,853,643 (GRCm39)	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Il17f	T	A	1: 20,848,131 (GRCm39)	M116L	probably benign	Het
Kif22	T	C	7: 126,628,104 (GRCm39)	K9E	possibly damaging	Het
Krt90	T	C	15: 101,467,679 (GRCm39)	E233G	probably benign	Het
Lipg	T	C	18: 75,090,307 (GRCm39)	M81V	probably benign	Het
Mocos	C	T	18: 24,834,513 (GRCm39)	S850L	probably damaging	Het
Mug2	T	A	6: 122,059,713 (GRCm39)	S1364T	probably damaging	Het
Neb	A	T	2: 52,075,340 (GRCm39)	N208K	probably benign	Het
Oca2	G	T	7: 55,978,515 (GRCm39)	R561L	probably benign	Het
Olfm5	A	G	7: 103,803,260 (GRCm39)	L401P	probably damaging	Het
Or12d17	T	A	17: 37,777,971 (GRCm39)	Y291*	probably null	Het
Or2t49	T	C	11: 58,393,166 (GRCm39)	D72G	probably damaging	Het
Or4a39	C	A	2: 89,236,866 (GRCm39)	A186S	possibly damaging	Het
Or7g16	G	A	9: 18,727,188 (GRCm39)	T134M	probably benign	Het
Or8g33	T	A	9: 39,338,187 (GRCm39)	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,259,860 (GRCm39)	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,145,222 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,176,186 (GRCm39)	I418V	probably benign	Het
Pih1d2	T	C	9: 50,529,909 (GRCm39)	V62A	probably benign	Het
Pkib	T	A	10: 57,604,234 (GRCm39)	V46E	probably damaging	Het
Pum1	A	G	4: 130,455,598 (GRCm39)		probably null	Het
Rbak	G	T	5: 143,162,307 (GRCm39)	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,781,959 (GRCm39)	T32A	probably damaging	Het
Shprh	T	C	10: 11,043,617 (GRCm39)	W835R	probably damaging	Het
Sis	T	G	3: 72,819,187 (GRCm39)	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,327,588 (GRCm39)	N675I	probably benign	Het
Slc8a3	C	A	12: 81,362,401 (GRCm39)	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,791,198 (GRCm39)	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,621,669 (GRCm39)	I96N	probably damaging	Het
Stx19	T	C	16: 62,642,420 (GRCm39)	S79P	probably damaging	Het
Tecta	C	T	9: 42,286,563 (GRCm39)	V698M	probably damaging	Het
Timm22	T	C	11: 76,301,965 (GRCm39)	S150P	probably damaging	Het
Tjp1	C	T	7: 64,962,953 (GRCm39)	D995N	possibly damaging	Het
Tmem135	T	A	7: 88,797,002 (GRCm39)	T365S	probably benign	Het
Tmem174	T	C	13: 98,773,489 (GRCm39)	T114A	probably benign	Het
Tnc	A	G	4: 63,926,053 (GRCm39)	I909T	probably benign	Het
Trcg1	A	G	9: 57,148,613 (GRCm39)	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,575,005 (GRCm39)	*487K	probably null	Het
Unc79	T	A	12: 103,097,905 (GRCm39)	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,321,982 (GRCm39)	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,614,697 (GRCm39)	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,689,861 (GRCm39)	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,975,378 (GRCm39)	V194G	probably damaging	Het
Zfp260	A	T	7: 29,804,235 (GRCm39)	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,505,016 (GRCm39)	H292L	possibly damaging	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
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'- TCACAGCACTGGCCTATGTG -3'
(R):5'- TTCAAGTAGTGAGTAAGGGTCAATG -3'

Sequencing Primer
(F):5'- TGGCCACCCCACAGAAC -3'
(R):5'- CTGAAGGCTAGCAGACAGGC -3'

Posted On

2018-05-24