Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Cherp'

730541

Institutional Source

Beutler Lab

Gene Symbol

Cherp

Ensembl Gene

ENSMUSG00000052488

Gene Name

calcium homeostasis endoplasmic reticulum protein

Synonyms

DAN16, SCAF6, D8Wsu96e, 5730408I11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72460489-72475226 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 72463076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064853] [ENSMUST00000079510] [ENSMUST00000121902] [ENSMUST00000212991]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064853

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	421	432	N/A	INTRINSIC
Pfam:DUF4614	438	608	2e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000079510

SMART Domains

Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488

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

probably benign
Transcript: ENSMUST00000121902

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
Pfam:DUF4614	400	575	1.3e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212991

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	Het

Other mutations in Cherp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Cherp	APN	8	72468246	missense	probably damaging	0.97
IGL00955:Cherp	APN	8	72470194	missense	probably damaging	0.99
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	72462047	frame shift	probably null
RF036:Cherp	UTSW	8	72462044	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

Predicted Primers

PCR Primer
(F):5'- CCAGAGGCTTGTACTCATGATCC -3'
(R):5'- TGTTTTGCAGACATGGGACC -3'

Sequencing Primer
(F):5'- TCATGATCCTCCAGCTGTAGGAGAG -3'
(R):5'- TGCCACACCCTGGGATCAATG -3'

Posted On

2022-10-06