Mutagenetix > Incidental Mutation

Incidental Mutation 'R1551:Cgref1'

169913

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

039590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1551 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

31090487-31102771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31090929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 295 (E295G)

Ref Sequence

ENSEMBL: ENSMUSP00000031051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031051] [ENSMUST00000031053] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031051
AA Change: E295G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031051
Gene: ENSMUSG00000029161
AA Change: E295G

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

probably benign
Transcript: ENSMUST00000031053

SMART Domains

Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	293	5.7e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200978

Predicted Effect

probably benign
Transcript: ENSMUST00000201571

SMART Domains

Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	70	2.4e-5	PFAM
Pfam:PfkB	65	249	4.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201621

SMART Domains

Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	294	1.5e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202627

Predicted Effect

probably benign
Transcript: ENSMUST00000202752

SMART Domains

Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	243	5.8e-18	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 83.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,101 (GRCm39)	I1534M	probably benign	Het
Acad11	G	A	9: 104,003,785 (GRCm39)	A626T	probably damaging	Het
Akap9	T	A	5: 4,119,174 (GRCm39)	N3560K	probably benign	Het
Aldh3a2	C	T	11: 61,144,470 (GRCm39)	V363I	probably benign	Het
Anks1b	A	G	10: 89,912,843 (GRCm39)	T289A	probably benign	Het
Atp11a	A	G	8: 12,862,340 (GRCm39)	N64S	probably damaging	Het
Atp11c	T	C	X: 59,282,072 (GRCm39)		probably null	Het
Cd101	T	C	3: 100,919,329 (GRCm39)	H591R	probably damaging	Het
Cd36	C	T	5: 18,002,120 (GRCm39)	V294I	probably benign	Het
Cfap47	C	A	X: 78,532,251 (GRCm39)	L842F	probably damaging	Het
Cit	A	G	5: 116,083,901 (GRCm39)	M787V	probably benign	Het
Clcn6	G	A	4: 148,097,235 (GRCm39)	P611S	possibly damaging	Het
Clec12a	A	C	6: 129,327,384 (GRCm39)	M1L	probably damaging	Het
Cmtm6	C	T	9: 114,575,573 (GRCm39)	R161W	probably damaging	Het
Colec10	G	T	15: 54,325,658 (GRCm39)	V163L	probably damaging	Het
Coq8b	A	G	7: 26,956,907 (GRCm39)	Y520C	probably damaging	Het
Ctsll3	C	A	13: 60,948,821 (GRCm39)	E45*	probably null	Het
Dsg3	A	G	18: 20,669,975 (GRCm39)	E663G	possibly damaging	Het
Dst	G	A	1: 34,231,293 (GRCm39)	R2962H	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fbxo36	T	C	1: 84,858,835 (GRCm39)	I40T	probably damaging	Het
Fgd2	G	A	17: 29,597,383 (GRCm39)	V568M	probably damaging	Het
Fmn1	T	C	2: 113,356,207 (GRCm39)	Y883H	possibly damaging	Het
Fpr-rs4	A	T	17: 18,242,589 (GRCm39)	T199S	possibly damaging	Het
Gm12789	A	G	4: 101,846,131 (GRCm39)	K131E	probably benign	Het
Gm17641	C	A	3: 68,777,448 (GRCm39)		silent	Het
Gm6665	G	T	18: 31,953,340 (GRCm39)	R43S	probably damaging	Het
Gzmc	T	A	14: 56,470,203 (GRCm39)	H98L	probably damaging	Het
Hecw1	T	A	13: 14,491,528 (GRCm39)	E75V	probably damaging	Het
Herc2	G	T	7: 55,796,417 (GRCm39)	V1930L	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Htr6	A	T	4: 138,801,776 (GRCm39)	C99*	probably null	Het
Lgals2	C	T	15: 78,736,511 (GRCm39)	M16I	probably benign	Het
Lrrc8c	A	G	5: 105,756,090 (GRCm39)	N622D	probably damaging	Het
Myo15a	A	T	11: 60,383,791 (GRCm39)	I1613F	possibly damaging	Het
Oacyl	C	T	18: 65,875,280 (GRCm39)	R455C	probably benign	Het
Or13c25	A	T	4: 52,911,397 (GRCm39)	Y132*	probably null	Het
Or5ac21	T	A	16: 59,123,766 (GRCm39)	N84K	probably benign	Het
Or5bh3	T	C	X: 49,098,872 (GRCm39)	T81A	possibly damaging	Het
Orm3	A	G	4: 63,275,146 (GRCm39)		probably null	Het
Phf2	G	C	13: 48,985,579 (GRCm39)	T67S	unknown	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pigt	T	C	2: 164,349,323 (GRCm39)	V542A	probably damaging	Het
Pnpla7	T	C	2: 24,937,720 (GRCm39)	F992L	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Pramel11	A	G	4: 143,622,263 (GRCm39)	M364T	probably benign	Het
Prmt7	A	G	8: 106,964,014 (GRCm39)	T303A	probably benign	Het
Prpf4b	A	T	13: 35,078,426 (GRCm39)	I679F	possibly damaging	Het
Psd4	T	A	2: 24,293,292 (GRCm39)	M719K	probably benign	Het
Ranbp9	A	T	13: 43,578,593 (GRCm39)	M160K	probably benign	Het
Rfc1	A	G	5: 65,434,706 (GRCm39)	Y687H	probably damaging	Het
Rimbp2	T	C	5: 128,883,423 (GRCm39)	K119R	probably damaging	Het
Rnf113a1	T	C	X: 36,455,046 (GRCm39)	M1T	probably null	Het
Rnf40	A	C	7: 127,195,506 (GRCm39)	K511Q	possibly damaging	Het
Ryr2	T	A	13: 11,800,029 (GRCm39)		probably null	Het
Scrib	A	T	15: 75,937,011 (GRCm39)	V365E	probably damaging	Het
Slc6a17	A	G	3: 107,379,443 (GRCm39)	V575A	possibly damaging	Het
Spta1	A	G	1: 174,067,732 (GRCm39)	N2053S	possibly damaging	Het
Ssbp2	G	A	13: 91,790,511 (GRCm39)		probably null	Het
Stab1	G	T	14: 30,882,456 (GRCm39)	N460K	probably benign	Het
Tbc1d9	T	A	8: 83,992,787 (GRCm39)	C964S	probably benign	Het
Tmed11	A	G	5: 108,927,680 (GRCm39)		probably null	Het
Tmem191	C	A	16: 17,095,984 (GRCm39)	R285S	probably damaging	Het
Tpr	T	C	1: 150,312,552 (GRCm39)	S1917P	probably benign	Het
Vill	A	T	9: 118,892,440 (GRCm39)	H357L	probably benign	Het
Vmn1r229	A	G	17: 21,035,051 (GRCm39)	T99A	probably benign	Het
Vmn2r14	A	G	5: 109,369,283 (GRCm39)	S97P	probably damaging	Het
Wasf2	G	T	4: 132,917,483 (GRCm39)	R194L	unknown	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
R1340:Cgref1	UTSW	5	31,102,690 (GRCm39)	splice site	probably benign
R1463:Cgref1	UTSW	5	31,093,338 (GRCm39)	unclassified	probably benign
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'- TCTCCCTGAGCTGCACAGAAAGTC -3'
(R):5'- TCAGCCACTTTTAGCCAACAGTCC -3'

Sequencing Primer
(F):5'- tacgcagtagcccagcc -3'
(R):5'- TTTAGCCAACAGTCCACTGC -3'

Posted On

2014-04-13