Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Cherp'

471880

Institutional Source

Beutler Lab

Gene Symbol

Cherp

Ensembl Gene

ENSMUSG00000052488

Gene Name

calcium homeostasis endoplasmic reticulum protein

Synonyms

DAN16, SCAF6, D8Wsu96e, 5730408I11Rik

MMRRC Submission

044148-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72460489-72475226 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 72461535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113279 (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

unknown
Transcript: ENSMUST00000079510
AA Change: Q904K

SMART Domains

Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: Q904K

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

noncoding transcript
Transcript: ENSMUST00000139130

Predicted Effect

unknown
Transcript: ENSMUST00000212991
AA Change: Q893K

Meta Mutation Damage Score

0.2392

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,379,830	K131E	probably benign	Het
Ank3	T	A	10: 69,987,226	L575*	probably null	Het
Aqr	T	C	2: 114,126,961	T819A	probably damaging	Het
Bbs2	A	T	8: 94,081,031	S407T	probably benign	Het
Bmper	T	A	9: 23,375,593	C272S	probably benign	Het
Btbd9	C	T	17: 30,334,218		probably null	Het
C5ar1	A	G	7: 16,248,822	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,575,757	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,745,574	V1451E	probably benign	Het
Cfap46	T	A	7: 139,651,595	M901L	probably damaging	Het
D430041D05Rik	C	T	2: 104,248,285	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,010,547	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,444,173	F243L	probably damaging	Het
Garem1	T	A	18: 21,129,430	I776F	probably benign	Het
Gpr87	T	A	3: 59,179,269	R272*	probably null	Het
Gsdmc	A	T	15: 63,780,116		probably null	Het
Hydin	T	A	8: 110,494,294	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,872,912	C63*	probably null	Het
Kdm4b	A	T	17: 56,399,732	T908S	probably damaging	Het
Lipn	A	G	19: 34,081,300	D304G	probably damaging	Het
Man2a1	T	G	17: 64,675,122	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,538,481	H66N	probably damaging	Het
Mog	G	A	17: 37,012,348	R233*	probably null	Het
Mrps24	A	T	11: 5,707,481		probably benign	Het
Nom1	T	C	5: 29,437,770	L423P	probably damaging	Het
Olfr65	T	A	7: 103,906,961	V174E	probably benign	Het
Pcdha1	T	A	18: 36,931,171	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,526,394	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,526,395	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,403,958	V63D	probably damaging	Het
Pnn	C	T	12: 59,067,831	R56*	probably null	Het
Primpol	T	A	8: 46,593,580	E227V	possibly damaging	Het
Rad54l	A	T	4: 116,110,387	W233R	probably damaging	Het
Rims2	A	T	15: 39,437,182	D103V	probably damaging	Het
Rttn	T	C	18: 89,073,695	S1511P	probably benign	Het
Sept5	T	C	16: 18,624,212		probably null	Het
Simc1	T	A	13: 54,525,819	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,079,693	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,682,036	S55G	possibly damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slitrk3	A	G	3: 73,050,713	V242A	probably benign	Het
St14	A	T	9: 31,106,557		probably benign	Het
Tnnt2	T	C	1: 135,843,862		probably benign	Het
Traf5	G	A	1: 192,000,016	T288I	probably benign	Het
Trerf1	C	T	17: 47,314,337		noncoding transcript	Het
Vegfc	A	G	8: 54,181,284	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,008,609	I209F	probably damaging	Het
Vps51	A	G	19: 6,068,290	L725P	probably damaging	Het
Vps8	T	C	16: 21,470,121	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,145,028	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,941,092	E164G	probably damaging	Het
Zcchc14	A	T	8: 121,628,623		probably benign	Het
Zfp383	A	G	7: 29,915,678	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,776,953	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,695,895		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AACAGGGATGTCACCTTCAC -3'
(R):5'- GCCATCAAATGCTGGTGAAG -3'

Sequencing Primer
(F):5'- AACAGGGATGTCACCTTCACCTTTC -3'
(R):5'- GTGAGTATACCCAGACCAGTGC -3'

Posted On

2017-03-31