Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00955:Cherp'

28052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cherp

Ensembl Gene

ENSMUSG00000052488

Gene Name

calcium homeostasis endoplasmic reticulum protein

Synonyms

DAN16, SCAF6, D8Wsu96e, 5730408I11Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

72460489-72475226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72470194 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 140 (E140K)

Ref Sequence

ENSEMBL: ENSMUSP00000078469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079510] [ENSMUST00000212991]

Predicted Effect

probably damaging
Transcript: ENSMUST00000079510
AA Change: E140K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: E140K

Domain	Start	End	E-Value	Type
SWAP	13	65	9.76e-24	SMART
low complexity region	78	100	N/A	INTRINSIC
low complexity region	107	124	N/A	INTRINSIC
RPR	156	286	5.32e-2	SMART
coiled coil region	310	334	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	409	419	N/A	INTRINSIC
low complexity region	439	463	N/A	INTRINSIC
low complexity region	488	500	N/A	INTRINSIC
low complexity region	526	560	N/A	INTRINSIC
low complexity region	565	580	N/A	INTRINSIC
low complexity region	591	606	N/A	INTRINSIC
low complexity region	725	736	N/A	INTRINSIC
low complexity region	743	829	N/A	INTRINSIC
G_patch	850	900	9.8e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212870

Predicted Effect

probably damaging
Transcript: ENSMUST00000212991
AA Change: E140K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl11	A	T	14: 61,311,242	Q167L	probably benign	Het
Ces3a	T	A	8: 105,050,570	V175E	probably damaging	Het
Clpx	A	T	9: 65,324,270	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,129,264	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,192,220	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,643,385	T123S	possibly damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Dzank1	G	A	2: 144,490,174	T414I	probably benign	Het
Erich3	A	G	3: 154,748,519	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,535,920	D83E	possibly damaging	Het
Hars2	T	C	18: 36,789,357		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,324,966	D372G	probably damaging	Het
Kcnk2	A	T	1: 189,243,014	I264N	probably damaging	Het
Kctd4	A	G	14: 75,963,228	D213G	probably damaging	Het
Lhx9	T	C	1: 138,828,680	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,911,404		probably benign	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,994,989	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,922,219	L91*	probably null	Het
Mup11	C	T	4: 60,659,550	R175H	probably benign	Het
Nbea	T	C	3: 56,005,472	K965E	possibly damaging	Het
Olfr598	C	A	7: 103,329,321	H278Q	probably damaging	Het
Papss1	G	A	3: 131,599,949	E252K	probably benign	Het
Robo2	A	T	16: 74,015,972	L278Q	probably damaging	Het
Sned1	A	T	1: 93,274,403	I638F	probably damaging	Het
Spin1	T	C	13: 51,144,541		probably null	Het
Taar9	T	C	10: 24,109,531	T2A	probably benign	Het
Tbc1d8b	T	C	X: 139,725,880		probably null	Het

Other mutations in Cherp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Cherp	APN	8	72468246	missense	probably damaging	0.97
R0452:Cherp	UTSW	8	72461522	unclassified	probably benign
R0479:Cherp	UTSW	8	72463147	missense	possibly damaging	0.66
R0594:Cherp	UTSW	8	72462402	critical splice donor site	probably null
R1734:Cherp	UTSW	8	72470088	critical splice donor site	probably null
R1781:Cherp	UTSW	8	72467771	missense	probably damaging	1.00
R1793:Cherp	UTSW	8	72463150	missense	probably benign	0.12
R2012:Cherp	UTSW	8	72474769	missense	probably damaging	0.98
R2845:Cherp	UTSW	8	72466403	missense	probably damaging	0.99
R3612:Cherp	UTSW	8	72461996	unclassified	probably benign
R3693:Cherp	UTSW	8	72467911	small deletion	probably benign
R3899:Cherp	UTSW	8	72469936	missense	possibly damaging	0.63
R3900:Cherp	UTSW	8	72469936	missense	possibly damaging	0.63
R3970:Cherp	UTSW	8	72469951	missense	possibly damaging	0.60
R4915:Cherp	UTSW	8	72468397	missense	probably damaging	1.00
R5512:Cherp	UTSW	8	72463266	missense	possibly damaging	0.66
R5556:Cherp	UTSW	8	72467980	missense	probably damaging	0.99
R5739:Cherp	UTSW	8	72467815	small deletion	probably benign
R5768:Cherp	UTSW	8	72463113	missense	probably damaging	0.98
R5824:Cherp	UTSW	8	72462258	unclassified	probably benign
R5963:Cherp	UTSW	8	72461535	unclassified	probably benign
R6255:Cherp	UTSW	8	72470881	missense	probably damaging	0.99
R7145:Cherp	UTSW	8	72468386	missense
R7538:Cherp	UTSW	8	72462419	missense
R7578:Cherp	UTSW	8	72464258	missense
R8329:Cherp	UTSW	8	72462008	missense
RF001:Cherp	UTSW	8	72462049	frame shift	probably null
RF007:Cherp	UTSW	8	72462059	small deletion	probably benign
RF036:Cherp	UTSW	8	72462044	frame shift	probably null
RF036:Cherp	UTSW	8	72462047	frame shift	probably null
RF059:Cherp	UTSW	8	72462055	frame shift	probably null
T0722:Cherp	UTSW	8	72462034	small deletion	probably benign
T0975:Cherp	UTSW	8	72462034	small deletion	probably benign
Z1176:Cherp	UTSW	8	72470953	missense
Z1177:Cherp	UTSW	8	72462916	missense
Z1177:Cherp	UTSW	8	72475135	start gained	probably benign

Posted On

2013-04-17