Mutagenetix > Incidental Mutations

Incidental Mutation 'R0497:Chp1'

40514

Institutional Source

Beutler Lab

Gene Symbol

Chp1

Ensembl Gene

ENSMUSG00000014077

Gene Name

calcineurin-like EF hand protein 1

Synonyms

vac, Sid470p, 1500003O03Rik

MMRRC Submission

038693-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R0497 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

119547697-119587027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119571782 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 79 (N79S)

Ref Sequence

ENSEMBL: ENSMUSP00000014221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014221] [ENSMUST00000119172] [ENSMUST00000132448]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014221
AA Change: N79S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000014221
Gene: ENSMUSG00000014077
AA Change: N79S

Domain	Start	End	E-Value	Type
Blast:EFh	30	58	8e-7	BLAST
EFh	114	142	4.81e-4	SMART
EFh	155	183	6.16e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119172
AA Change: N79S

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114013
Gene: ENSMUSG00000014077
AA Change: N79S

Domain	Start	End	E-Value	Type
Pfam:EF-hand_6	30	63	2.1e-4	PFAM
EFh	114	142	4.81e-4	SMART
EFh	155	183	5.08e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154406

Meta Mutation Damage Score

0.0989

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU mutation display ataxia and progressive Purkinje cell axonal dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966		probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	Het

Other mutations in Chp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03077:Chp1	APN	2	119584600	missense	probably benign	0.00
R0470:Chp1	UTSW	2	119560763	missense	probably damaging	1.00
R5875:Chp1	UTSW	2	119571815	missense	probably damaging	1.00
R6551:Chp1	UTSW	2	119571813	missense	possibly damaging	0.92
R7557:Chp1	UTSW	2	119560757	missense	probably damaging	0.97
R7633:Chp1	UTSW	2	119560745	missense	probably benign	0.00
R7689:Chp1	UTSW	2	119584665	missense	probably benign	0.04
RF004:Chp1	UTSW	2	119580714	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- accatctcagaacaacagaTAAACAAGCAA -3'
(R):5'- aTGAGCCGGGtcccagca -3'

Sequencing Primer
(F):5'- cacccgactgctcttcc -3'
(R):5'- gaagcagaggcaggcgg -3'

Posted On

2013-05-23