Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Grsf1'

160226

Institutional Source

Beutler Lab

Gene Symbol

Grsf1

Ensembl Gene

ENSMUSG00000044221

Gene Name

G-rich RNA sequence binding factor 1

Synonyms

D5Wsu31e

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88807307-88824030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88813706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 231 (Y231H)

Ref Sequence

ENSEMBL: ENSMUSP00000108860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078945] [ENSMUST00000113234] [ENSMUST00000153565]

AlphaFold

Q8C5Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000078945
AA Change: Y348H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: Y348H

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	45	60	N/A	INTRINSIC
low complexity region	64	101	N/A	INTRINSIC
low complexity region	124	139	N/A	INTRINSIC
RRM	150	224	1.65e-6	SMART
RRM	250	321	1.79e-11	SMART
RRM	401	471	1.54e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113234
AA Change: Y231H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: Y231H

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
RRM	33	107	1.65e-6	SMART
RRM	133	204	1.79e-11	SMART
RRM	284	354	1.54e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130408

Predicted Effect

probably benign
Transcript: ENSMUST00000153565

SMART Domains

Protein: ENSMUSP00000123051
Gene: ENSMUSG00000044221

Domain	Start	End	E-Value	Type
internal_repeat_1	2	33	5.45e-5	PROSPERO
RRM	52	123	1.79e-11	SMART

Meta Mutation Damage Score

0.1184

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,480,285 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fgfrl1	T	A	5: 108,854,147 (GRCm39)		probably benign	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Nvl	A	T	1: 180,924,691 (GRCm39)		probably benign	Het
Or5p70	T	A	7: 107,994,708 (GRCm39)	V127E	probably damaging	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Vwf	A	T	6: 125,580,420 (GRCm39)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Yipf3	T	C	17: 46,562,372 (GRCm39)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	probably benign	Het

Other mutations in Grsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Grsf1	APN	5	88,818,137 (GRCm39)	missense	probably damaging	1.00
IGL01505:Grsf1	APN	5	88,820,608 (GRCm39)	nonsense	probably null
IGL02108:Grsf1	APN	5	88,813,762 (GRCm39)	missense	probably benign	0.35
IGL02116:Grsf1	APN	5	88,818,033 (GRCm39)	critical splice donor site	probably null
IGL02713:Grsf1	APN	5	88,820,589 (GRCm39)	missense	probably damaging	1.00
IGL02881:Grsf1	APN	5	88,821,689 (GRCm39)	missense	probably damaging	1.00
R0336:Grsf1	UTSW	5	88,811,012 (GRCm39)	missense	probably damaging	0.96
R1381:Grsf1	UTSW	5	88,813,723 (GRCm39)	missense	probably benign	0.10
R2136:Grsf1	UTSW	5	88,820,517 (GRCm39)	missense	probably benign	0.05
R2398:Grsf1	UTSW	5	88,821,695 (GRCm39)	missense	probably damaging	1.00
R4181:Grsf1	UTSW	5	88,812,015 (GRCm39)	missense	probably benign	0.00
R4182:Grsf1	UTSW	5	88,812,015 (GRCm39)	missense	probably benign	0.00
R4183:Grsf1	UTSW	5	88,812,015 (GRCm39)	missense	probably benign	0.00
R4184:Grsf1	UTSW	5	88,812,015 (GRCm39)	missense	probably benign	0.00
R5315:Grsf1	UTSW	5	88,821,634 (GRCm39)	start gained	probably benign
R6246:Grsf1	UTSW	5	88,810,451 (GRCm39)	missense	possibly damaging	0.81
R7359:Grsf1	UTSW	5	88,813,423 (GRCm39)	splice site	probably null
R7381:Grsf1	UTSW	5	88,813,666 (GRCm39)	missense	probably benign	0.02
R7430:Grsf1	UTSW	5	88,811,086 (GRCm39)	missense	possibly damaging	0.67
R7703:Grsf1	UTSW	5	88,819,150 (GRCm39)	missense	probably damaging	1.00
R7838:Grsf1	UTSW	5	88,823,523 (GRCm39)	start gained	probably benign
R8013:Grsf1	UTSW	5	88,823,615 (GRCm39)	critical splice donor site	probably null
R9334:Grsf1	UTSW	5	88,820,469 (GRCm39)	missense	probably damaging	0.99
YA93:Grsf1	UTSW	5	88,821,594 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGCACCTCACAAGCTGAACAT -3'
(R):5'- AGAAGGACTTTGTATTCTTGCCCTTGC -3'

Sequencing Primer
(F):5'- TCACAAGCTGAACATACAAGC -3'
(R):5'- gggaactgagcagtggg -3'

Posted On

2014-03-14