Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Cherp'

644259

Institutional Source

Beutler Lab

Gene Symbol

Cherp

Ensembl Gene

ENSMUSG00000052488

Gene Name

calcium homeostasis endoplasmic reticulum protein

Synonyms

DAN16, SCAF6, D8Wsu96e, 5730408I11Rik

MMRRC Submission

067859-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72460489-72475226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72462008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 834 (R834C)

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

SMART Domains

Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: R834C

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

unknown
Transcript: ENSMUST00000212991
AA Change: R823C

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,543,741		probably null	Het
Ackr4	A	G	9: 104,099,461	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376	I596T	possibly damaging	Het
Aff3	G	A	1: 38,205,054	R879W	probably benign	Het
Apob	A	G	12: 8,011,135	R3206G	probably damaging	Het
Atg7	T	A	6: 114,686,096	D224E	possibly damaging	Het
Capn12	T	C	7: 28,883,201	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,229,037	V224G	probably damaging	Het
Ces4a	G	A	8: 105,148,082	V452I	probably damaging	Het
Clptm1l	T	A	13: 73,612,428	I310N	probably damaging	Het
Cog3	A	T	14: 75,740,563	D230E	probably damaging	Het
Crb1	T	A	1: 139,237,267	I1101F	probably damaging	Het
Cts6	A	T	13: 61,195,468	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,186,462	C435*	probably null	Het
Defb13	A	G	8: 21,948,546	E40G	probably benign	Het
Dis3l	T	C	9: 64,311,830	D606G	possibly damaging	Het
Dopey2	T	C	16: 93,771,787	L1579P	probably damaging	Het
Foxa3	A	G	7: 19,014,184	V339A	probably benign	Het
Gcn1l1	G	A	5: 115,609,862	G1776E	probably damaging	Het
Gls2	A	G	10: 128,201,285	T232A	probably benign	Het
Gm853	C	T	4: 130,215,363	V295M	possibly damaging	Het
Gprc6a	A	T	10: 51,627,259	Y169*	probably null	Het
Guca2b	T	C	4: 119,658,804	S18G	unknown	Het
Hars2	A	G	18: 36,789,235	D301G	possibly damaging	Het
Haus5	T	A	7: 30,659,559	Q226L	possibly damaging	Het
Hc	G	A	2: 35,012,898		probably null	Het
Hivep2	T	C	10: 14,128,267	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,991,111	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,668,317	R3L	probably benign	Het
Hspa8	T	G	9: 40,802,601	I130S	probably damaging	Het
Ier5l	C	A	2: 30,472,849	C388F	possibly damaging	Het
Lmx1a	A	G	1: 167,689,803	N10S	probably benign	Het
Map2	T	C	1: 66,415,113	I1054T	probably benign	Het
Me1	C	T	9: 86,619,737	D268N	probably damaging	Het
Muc6	G	A	7: 141,640,258	P1501S	unknown	Het
Myo1d	T	C	11: 80,638,074	M641V	probably benign	Het
Nuggc	G	A	14: 65,641,282	R667K	probably benign	Het
Olfr62	A	C	4: 118,666,407	N297H	probably damaging	Het
Olfr742	T	C	14: 50,515,558	F118S	probably damaging	Het
Oprl1	T	A	2: 181,718,924	C231S	probably damaging	Het
Pard3b	C	A	1: 62,637,798	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,418,048	Y158C	probably damaging	Het
Prune2	T	G	19: 17,121,265	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,884,540	T158K	probably damaging	Het
Rbm42	T	A	7: 30,645,157	E227V	unknown	Het
Ripor3	T	C	2: 167,983,199	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,662,510	H3764L	possibly damaging	Het
Sbno2	T	C	10: 80,064,387	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,535,964	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,148,583	L73P	probably damaging	Het
Spag16	T	C	1: 69,895,248	I278T	probably benign	Het
Stx18	T	A	5: 38,128,106	L274*	probably null	Het
Terb1	A	T	8: 104,484,371	N341K	probably damaging	Het
Timm29	A	G	9: 21,593,705	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,568,465	M370L	probably benign	Het
Tmtc3	T	A	10: 100,447,434	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,833	C699*	probably null	Het
Trav5d-4	G	A	14: 53,001,751	W13*	probably null	Het
Trdn	A	G	10: 33,444,078		probably null	Het
Tsg101	A	T	7: 46,909,060	Y68N	probably damaging	Het
Ttn	A	G	2: 76,833,718	V11649A	unknown	Het
Wnk2	A	T	13: 49,095,438	V379D	probably damaging	Het
Xpnpep1	A	G	19: 53,002,472		probably null	Het
Yme1l1	C	T	2: 23,164,585	Q139*	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
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
R9717:Cherp	UTSW	8	72463076	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- GAATTAGAACCCAGGCCAGCTG -3'
(R):5'- TGGTTGCTGTAACTGCCGTC -3'

Sequencing Primer
(F):5'- CTGCAGAGCTGGAATGAAGAGC -3'
(R):5'- ACGGTGGCATTCCCTTG -3'

Posted On

2020-09-02