Mutagenetix > Incidental Mutation

Incidental Mutation 'R5398:Chac1'

429784

Institutional Source

Beutler Lab

Gene Symbol

Chac1

Ensembl Gene

ENSMUSG00000027313

Gene Name

ChaC, cation transport regulator 1

Synonyms

1810008K03Rik, Botch

MMRRC Submission

042969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119181723-119184807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 119183725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 109 (L109R)

Ref Sequence

ENSEMBL: ENSMUSP00000028780 (fasta)

Gene Model

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

AlphaFold

Q8R3J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028780
AA Change: L109R

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: L109R

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

0.8742

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

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
Adam32	A	G	8: 25,362,595 (GRCm39)	L34P	possibly damaging	Het
Adam34	A	C	8: 44,104,278 (GRCm39)	C456G	probably damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Atp8b3	T	C	10: 80,365,533 (GRCm39)	D407G	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Csf2rb	A	G	15: 78,232,820 (GRCm39)	D709G	probably benign	Het
Ddx42	T	A	11: 106,115,724 (GRCm39)	D112E	probably benign	Het
Dnah5	A	G	15: 28,293,872 (GRCm39)	K1326E	probably benign	Het
Dnajc3	T	A	14: 119,209,799 (GRCm39)	Y291*	probably null	Het
Dsg2	T	C	18: 20,712,190 (GRCm39)	F109L	probably benign	Het
Egfl8	T	C	17: 34,833,613 (GRCm39)		probably benign	Het
Emb	T	A	13: 117,404,088 (GRCm39)	I280N	probably damaging	Het
Gcc2	C	A	10: 58,105,329 (GRCm39)	N188K	probably benign	Het
Gdpd4	A	T	7: 97,621,185 (GRCm39)	H166L	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Itga11	A	G	9: 62,653,205 (GRCm39)	T360A	probably benign	Het
Kctd1	A	G	18: 15,195,322 (GRCm39)	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,394,401 (GRCm39)	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,688,807 (GRCm39)		noncoding transcript	Het
Ociad1	T	A	5: 73,467,755 (GRCm39)	V231E	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1l4	C	A	2: 37,091,330 (GRCm39)	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,399,207 (GRCm39)	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pcnx2	T	C	8: 126,614,687 (GRCm39)	K255E	possibly damaging	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Ppl	A	G	16: 4,922,786 (GRCm39)	M235T	probably benign	Het
Prl7d1	T	A	13: 27,894,057 (GRCm39)	I171F	probably damaging	Het
Ptprt	T	C	2: 161,769,512 (GRCm39)	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,424,998 (GRCm39)	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,616,246 (GRCm39)	T11I	probably benign	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Scn9a	T	C	2: 66,318,387 (GRCm39)	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,536,304 (GRCm39)	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,730,936 (GRCm39)	I61N	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spink12	A	G	18: 44,240,794 (GRCm39)	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,761,638 (GRCm39)	I289V	probably benign	Het
Srebf2	A	G	15: 82,055,443 (GRCm39)	T176A	probably damaging	Het
Syce1l	T	C	8: 114,379,145 (GRCm39)	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,378,910 (GRCm39)	I538T	probably benign	Het
Tcte1	C	T	17: 45,850,752 (GRCm39)	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,559,441 (GRCm39)	D177A	probably damaging	Het
Thada	T	G	17: 84,733,614 (GRCm39)	D1011A	probably benign	Het
Tnn	T	A	1: 159,975,092 (GRCm39)	M112L	probably benign	Het
Traf1	T	C	2: 34,835,447 (GRCm39)	E325G	probably damaging	Het
Tyw1	T	C	5: 130,305,998 (GRCm39)		probably benign	Het
Vmn2r111	C	A	17: 22,792,252 (GRCm39)	M1I	probably null	Het
Wdr11	C	T	7: 129,232,956 (GRCm39)	T996M	probably 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
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'- CAGCCAGTCAAACACGTTAG -3'
(R):5'- TGTGGCAATGACCTCTTCAG -3'

Sequencing Primer
(F):5'- CTCCAAAGGGCCTGGATTTGATAC -3'
(R):5'- CAATGACCTCTTCAGGAGCAGG -3'

Posted On

2016-09-06