Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Cherp'

602512

Institutional Source

Beutler Lab

Gene Symbol

Cherp

Ensembl Gene

ENSMUSG00000052488

Gene Name

calcium homeostasis endoplasmic reticulum protein

Synonyms

DAN16, SCAF6, D8Wsu96e, 5730408I11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

RF001 (G1)

Quality Score

213.468

Status

Not validated

Chromosome

Chromosomal Location

73214333-73229070 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GACCTGGA to G at 73215893 bp (GRCm39)

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 null
Transcript: ENSMUST00000212991

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,891,311 (GRCm39)		probably benign	Het
Acer1	A	G	17: 57,265,909 (GRCm39)	V122A	probably benign	Het
Adam34l	T	G	8: 44,079,942 (GRCm39)	D94A	possibly damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Atp13a1	C	A	8: 70,252,720 (GRCm39)	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,162,651 (GRCm39)		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,162,675 (GRCm39)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,129,715 (GRCm39)		probably benign	Het
Casz1	CACA	C	4: 149,036,761 (GRCm39)		probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,682 (GRCm39)		probably benign	Het
Coq7	A	G	7: 118,132,405 (GRCm39)	S24P	probably benign	Het
Cul1	T	C	6: 47,501,515 (GRCm39)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 86,922,469 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,286 (GRCm39)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,643,230 (GRCm39)		probably benign	Het
Fat1	T	G	8: 45,442,003 (GRCm39)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,624 (GRCm39)		probably benign	Het
Gm14412	T	C	2: 177,008,894 (GRCm39)	I52V	probably benign	Het
Gm5414	T	C	15: 101,536,388 (GRCm39)	E79G	probably benign	Het
Gpc5	G	A	14: 115,654,590 (GRCm39)	S470N	probably benign	Het
Grin2b	A	G	6: 136,021,238 (GRCm39)	V21A	probably benign	Het
Hecw1	C	A	13: 14,472,009 (GRCm39)	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,713,756 (GRCm39)	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,179,911 (GRCm39)		probably benign	Het
Inpp5f	G	A	7: 128,296,807 (GRCm39)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,361,765 (GRCm39)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,267,775 (GRCm39)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,285,807 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,520,773 (GRCm39)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,020,003 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,019,976 (GRCm39)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,020,001 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,059,897 (GRCm39)	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 92,925,459 (GRCm39)		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lmo4	A	C	3: 143,907,623 (GRCm39)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,620,836 (GRCm39)	I952T	probably benign	Het
Lyst	T	C	13: 13,810,426 (GRCm39)	F699L	probably benign	Het
Matn3	T	A	12: 9,008,797 (GRCm39)	D303E	probably benign	Het
Me1	A	G	9: 86,464,876 (GRCm39)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,537,756 (GRCm39)	V68E	probably benign	Het
Mptx2	T	C	1: 173,102,536 (GRCm39)	N51S	probably benign	Het
Mylk	A	G	16: 34,699,741 (GRCm39)	D368G	probably benign	Het
Myom2	T	C	8: 15,131,418 (GRCm39)	V372A	possibly damaging	Het
Neb	T	C	2: 52,085,433 (GRCm39)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 155,937,995 (GRCm39)		probably benign	Het
Sertad4	T	C	1: 192,529,486 (GRCm39)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,608,421 (GRCm39)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,608,386 (GRCm39)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,635,083 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tecpr1	A	G	5: 144,154,204 (GRCm39)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,851,227 (GRCm39)		probably benign	Het
Vmn1r48	A	T	6: 90,013,186 (GRCm39)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,163,612 (GRCm39)		probably benign	Het
Zscan29	T	C	2: 120,994,477 (GRCm39)	N503D	possibly damaging	Het

Other mutations in Cherp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Cherp	APN	8	73,222,090 (GRCm39)	missense	probably damaging	0.97
IGL00955:Cherp	APN	8	73,224,038 (GRCm39)	missense	probably damaging	0.99
R0452:Cherp	UTSW	8	73,215,366 (GRCm39)	unclassified	probably benign
R0479:Cherp	UTSW	8	73,216,991 (GRCm39)	missense	possibly damaging	0.66
R0594:Cherp	UTSW	8	73,216,246 (GRCm39)	critical splice donor site	probably null
R1734:Cherp	UTSW	8	73,223,932 (GRCm39)	critical splice donor site	probably null
R1781:Cherp	UTSW	8	73,221,615 (GRCm39)	missense	probably damaging	1.00
R1793:Cherp	UTSW	8	73,216,994 (GRCm39)	missense	probably benign	0.12
R2012:Cherp	UTSW	8	73,228,613 (GRCm39)	missense	probably damaging	0.98
R2845:Cherp	UTSW	8	73,220,247 (GRCm39)	missense	probably damaging	0.99
R3612:Cherp	UTSW	8	73,215,840 (GRCm39)	unclassified	probably benign
R3693:Cherp	UTSW	8	73,221,755 (GRCm39)	small deletion	probably benign
R3899:Cherp	UTSW	8	73,223,780 (GRCm39)	missense	possibly damaging	0.63
R3900:Cherp	UTSW	8	73,223,780 (GRCm39)	missense	possibly damaging	0.63
R3970:Cherp	UTSW	8	73,223,795 (GRCm39)	missense	possibly damaging	0.60
R4915:Cherp	UTSW	8	73,222,241 (GRCm39)	missense	probably damaging	1.00
R5512:Cherp	UTSW	8	73,217,110 (GRCm39)	missense	possibly damaging	0.66
R5556:Cherp	UTSW	8	73,221,824 (GRCm39)	missense	probably damaging	0.99
R5739:Cherp	UTSW	8	73,221,659 (GRCm39)	small deletion	probably benign
R5768:Cherp	UTSW	8	73,216,957 (GRCm39)	missense	probably damaging	0.98
R5824:Cherp	UTSW	8	73,216,102 (GRCm39)	unclassified	probably benign
R5963:Cherp	UTSW	8	73,215,379 (GRCm39)	unclassified	probably benign
R6255:Cherp	UTSW	8	73,224,725 (GRCm39)	missense	probably damaging	0.99
R7145:Cherp	UTSW	8	73,222,230 (GRCm39)	missense
R7538:Cherp	UTSW	8	73,216,263 (GRCm39)	missense
R7578:Cherp	UTSW	8	73,218,102 (GRCm39)	missense
R8329:Cherp	UTSW	8	73,215,852 (GRCm39)	missense
R9717:Cherp	UTSW	8	73,216,920 (GRCm39)	critical splice donor site	probably null
RF007:Cherp	UTSW	8	73,215,903 (GRCm39)	small deletion	probably benign
RF036:Cherp	UTSW	8	73,215,891 (GRCm39)	frame shift	probably null
RF036:Cherp	UTSW	8	73,215,888 (GRCm39)	frame shift	probably null
RF059:Cherp	UTSW	8	73,215,899 (GRCm39)	frame shift	probably null
T0722:Cherp	UTSW	8	73,215,878 (GRCm39)	small deletion	probably benign
T0975:Cherp	UTSW	8	73,215,878 (GRCm39)	small deletion	probably benign
Z1176:Cherp	UTSW	8	73,224,797 (GRCm39)	missense
Z1177:Cherp	UTSW	8	73,228,979 (GRCm39)	start gained	probably benign
Z1177:Cherp	UTSW	8	73,216,760 (GRCm39)	missense

Predicted Primers

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

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

Posted On

2019-12-04