Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Cherp'

529326

Institutional Source

Beutler Lab

Gene Symbol

Cherp

Ensembl Gene

ENSMUSG00000052488

Gene Name

calcium homeostasis endoplasmic reticulum protein

Synonyms

DAN16, SCAF6, D8Wsu96e, 5730408I11Rik

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6255 (G1)

Quality Score

56.0072

Status

Validated

Chromosome

Chromosomal Location

72460489-72475226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72470881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 125 (A125D)

Ref Sequence

ENSEMBL: ENSMUSP00000148273 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079510
AA Change: A125D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: A125D

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: A125D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	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
R5963:Cherp	UTSW	8	72461535	unclassified	probably benign
R7145:Cherp	UTSW	8	72468386	missense
R7538:Cherp	UTSW	8	72462419	missense
R7578:Cherp	UTSW	8	72464258	missense
R8329:Cherp	UTSW	8	72462008	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'- AAGATGGGGCCAATAATGCCC -3'
(R):5'- TCACCAAAAGGAACCTGGGG -3'

Sequencing Primer
(F):5'- CCTCCCTACTCATTAAGAATGGTAG -3'
(R):5'- TCCTGCTAGTAATCTGCAAGCAG -3'

Posted On

2018-07-31