Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Cgref1'

247306

Institutional Source

Beutler Lab

Gene Symbol

Cgref1

Ensembl Gene

ENSMUSG00000029161

Gene Name

cell growth regulator with EF hand domain 1

Synonyms

CGR11, 1110004G24Rik

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1340 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

31090487-31102771 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 31102690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031051]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000006814

SMART Domains

Protein: ENSMUSP00000143649
Gene: ENSMUSG00000006638

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Hydrolase_4	127	371	1.3e-9	PFAM
Pfam:Abhydrolase_1	131	373	1.4e-12	PFAM
Pfam:Abhydrolase_5	132	367	2.8e-8	PFAM
Pfam:Abhydrolase_6	133	377	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031051

SMART Domains

Protein: ENSMUSP00000031051
Gene: ENSMUSG00000029161

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
low complexity region	28	44	N/A	INTRINSIC
low complexity region	50	63	N/A	INTRINSIC
SCOP:d2pvba_	113	188	1e-4	SMART
Blast:EFh	120	148	1e-9	BLAST
Blast:EFh	164	189	4e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202627

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Ces3a	C	T	8: 105,784,545 (GRCm39)	P462L	probably damaging	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Mtarc2	T	C	1: 184,554,744 (GRCm39)	T254A	probably benign	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Nt5c3	A	G	6: 56,860,018 (GRCm39)	M273T	probably benign	Het
Or12j2	A	G	7: 139,916,038 (GRCm39)	T88A	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Rps17	A	G	7: 80,993,481 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox15	T	A	11: 69,546,373 (GRCm39)	S59T	probably damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het
Wscd1	T	C	11: 71,659,586 (GRCm39)	V222A	probably benign	Het

Other mutations in Cgref1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Cgref1	APN	5	31,091,502 (GRCm39)	critical splice donor site	probably null
IGL02572:Cgref1	APN	5	31,090,911 (GRCm39)	missense	probably benign
IGL03036:Cgref1	APN	5	31,090,937 (GRCm39)	missense	probably damaging	0.96
FR4304:Cgref1	UTSW	5	31,091,124 (GRCm39)	unclassified	probably benign
FR4449:Cgref1	UTSW	5	31,091,122 (GRCm39)	nonsense	probably null
FR4449:Cgref1	UTSW	5	31,091,120 (GRCm39)	unclassified	probably benign
R1463:Cgref1	UTSW	5	31,093,338 (GRCm39)	unclassified	probably benign
R1551:Cgref1	UTSW	5	31,090,929 (GRCm39)	missense	probably benign	0.03
R2059:Cgref1	UTSW	5	31,090,989 (GRCm39)	missense	possibly damaging	0.95
R5147:Cgref1	UTSW	5	31,091,049 (GRCm39)	missense	probably benign	0.01
R6059:Cgref1	UTSW	5	31,102,728 (GRCm39)	missense	probably damaging	0.99
R7501:Cgref1	UTSW	5	31,102,800 (GRCm39)	missense	probably damaging	0.99
R7542:Cgref1	UTSW	5	31,090,937 (GRCm39)	missense	probably damaging	0.96
R8137:Cgref1	UTSW	5	31,091,749 (GRCm39)	missense	possibly damaging	0.93
RF064:Cgref1	UTSW	5	31,091,118 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TACTGAATGAGGTGGAACCCTGGC -3'
(R):5'- CTCTCAGATCCACATGGAACAAGGC -3'

Sequencing Primer
(F):5'- AGGAGGACTCTTGGACCTATCATC -3'
(R):5'- AGGTCTGCCCAAGGAGG -3'

Posted On

2014-11-06