Mutagenetix > Incidental Mutation

Incidental Mutation 'R2136:Grsf1'

235802

Institutional Source

Beutler Lab

Gene Symbol

Grsf1

Ensembl Gene

ENSMUSG00000044221

Gene Name

G-rich RNA sequence binding factor 1

Synonyms

D5Wsu31e

MMRRC Submission

040139-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88807307-88824030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88820517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 7 (V7A)

Ref Sequence

ENSEMBL: ENSMUSP00000123051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078945] [ENSMUST00000113234] [ENSMUST00000133532] [ENSMUST00000150438] [ENSMUST00000153565]

AlphaFold

Q8C5Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000078945
AA Change: V205A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: V205A

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: V88A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: V88A

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: ENSMUST00000133532
AA Change: V7A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114732
Gene: ENSMUSG00000044221
AA Change: V7A

Domain	Start	End	E-Value	Type
Blast:RRM	1	26	6e-11	BLAST
PDB:2LMI\|A	1	46	3e-26	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137725

Predicted Effect

unknown
Transcript: ENSMUST00000150438
AA Change: V7A

Predicted Effect

probably benign
Transcript: ENSMUST00000153565
AA Change: V7A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123051
Gene: ENSMUSG00000044221
AA Change: V7A

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	G	16: 19,702,530 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Abcg3	G	A	5: 105,114,680 (GRCm39)	S279L	probably benign	Het
Acap3	T	C	4: 155,981,369 (GRCm39)	L85P	probably damaging	Het
Adgrl3	A	G	5: 81,660,101 (GRCm39)	K290R	probably damaging	Het
Ankhd1	A	G	18: 36,780,674 (GRCm39)	T1909A	probably benign	Het
Asap1	T	C	15: 63,982,808 (GRCm39)	D832G	probably damaging	Het
Atp6v0a2	T	A	5: 124,795,552 (GRCm39)	L702Q	possibly damaging	Het
Bsn	A	G	9: 107,990,430 (GRCm39)	V1774A	probably damaging	Het
Cd209e	T	C	8: 3,903,248 (GRCm39)	E48G	probably benign	Het
Cdadc1	T	C	14: 59,805,493 (GRCm39)		probably null	Het
Cfap65	C	CA	1: 74,956,432 (GRCm39)		probably null	Het
Cln3	A	C	7: 126,181,971 (GRCm39)	S30R	probably benign	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Crb1	A	T	1: 139,265,163 (GRCm39)	V85E	probably benign	Het
Crocc	G	A	4: 140,760,265 (GRCm39)	R789W	probably damaging	Het
Cwh43	A	G	5: 73,572,397 (GRCm39)	I212V	probably benign	Het
Cyp2t4	C	A	7: 26,857,585 (GRCm39)	F391L	probably benign	Het
Dhx35	G	T	2: 158,673,781 (GRCm39)	R404L	probably damaging	Het
Disp1	A	G	1: 182,869,942 (GRCm39)	L826S	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Ep300	T	A	15: 81,524,648 (GRCm39)	Y1393N	unknown	Het
Fap	C	T	2: 62,354,551 (GRCm39)	G446D	possibly damaging	Het
Fat3	A	G	9: 16,288,347 (GRCm39)	I392T	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glipr1l1	T	C	10: 111,896,381 (GRCm39)	V56A	probably damaging	Het
Hmcn1	G	A	1: 150,509,410 (GRCm39)	A3646V	probably damaging	Het
Ipo9	A	T	1: 135,322,023 (GRCm39)	I569N	probably damaging	Het
Irs1	G	T	1: 82,267,763 (GRCm39)	P151Q	probably damaging	Het
Kalrn	T	C	16: 34,128,094 (GRCm39)	D491G	possibly damaging	Het
Kctd7	T	C	5: 130,181,207 (GRCm39)	L210P	probably damaging	Het
Lifr	C	A	15: 7,211,338 (GRCm39)	D625E	possibly damaging	Het
Lrguk	T	C	6: 34,020,454 (GRCm39)	V201A	probably benign	Het
Mark1	A	G	1: 184,651,770 (GRCm39)	V135A	probably damaging	Het
Mical2	T	A	7: 111,870,722 (GRCm39)	D70E	possibly damaging	Het
Mrc1	T	C	2: 14,275,000 (GRCm39)	Y434H	probably damaging	Het
Myh10	C	A	11: 68,695,540 (GRCm39)	Q1556K	probably damaging	Het
Nav1	G	A	1: 135,382,174 (GRCm39)	T1400I	probably null	Het
Or1j11	A	G	2: 36,311,950 (GRCm39)	D180G	probably damaging	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or4b13	A	C	2: 90,082,597 (GRCm39)	V245G	probably damaging	Het
Or4f4b	T	C	2: 111,313,961 (GRCm39)	V62A	probably damaging	Het
Or4p7	T	A	2: 88,221,663 (GRCm39)	I24N	probably benign	Het
Or5d43	T	C	2: 88,104,584 (GRCm39)	K270E	probably damaging	Het
Or5e1	G	A	7: 108,354,430 (GRCm39)	M122I	possibly damaging	Het
Osmr	T	A	15: 6,881,943 (GRCm39)	Q67L	probably damaging	Het
Pan2	T	G	10: 128,149,506 (GRCm39)	V522G	possibly damaging	Het
Pard3	T	G	8: 128,103,366 (GRCm39)		probably null	Het
Pcdhgc5	G	T	18: 37,953,166 (GRCm39)	A147S	possibly damaging	Het
Pcsk9	T	C	4: 106,303,967 (GRCm39)	I506V	probably benign	Het
Polr3d	GCCCCC	GCCCC	14: 70,680,487 (GRCm39)		probably null	Het
Prdm4	G	A	10: 85,729,215 (GRCm39)	R731*	probably null	Het
Prdx6b	T	A	2: 80,123,507 (GRCm39)	D105E	probably damaging	Het
Prss3b	A	G	6: 41,012,396 (GRCm39)	F6S	probably benign	Het
Rab42	A	G	4: 132,029,790 (GRCm39)	L144P	probably damaging	Het
Ralbp1	T	A	17: 66,171,661 (GRCm39)	K104M	probably damaging	Het
Resf1	T	A	6: 149,230,320 (GRCm39)	I1122K	probably benign	Het
Rrp12	A	G	19: 41,881,038 (GRCm39)	V131A	probably damaging	Het
Sbno1	C	T	5: 124,525,597 (GRCm39)		probably null	Het
Sbno2	A	T	10: 79,898,527 (GRCm39)	I645N	probably damaging	Het
Scfd2	T	C	5: 74,367,028 (GRCm39)	K624R	probably benign	Het
Sgk2	C	A	2: 162,841,099 (GRCm39)		probably null	Het
Sirt4	A	G	5: 115,617,760 (GRCm39)	S299P	probably benign	Het
Skic3	T	C	13: 76,321,473 (GRCm39)	S1322P	possibly damaging	Het
Slit2	C	T	5: 48,461,567 (GRCm39)	A1521V	probably benign	Het
Socs7	T	G	11: 97,263,933 (GRCm39)	V275G	possibly damaging	Het
Spink11	G	A	18: 44,323,554 (GRCm39)	P102S	probably benign	Het
Tacc3	A	G	5: 33,828,748 (GRCm39)	N534D	probably damaging	Het
Tas2r115	T	C	6: 132,714,309 (GRCm39)	Y214C	probably damaging	Het
Tcaf1	A	T	6: 42,650,454 (GRCm39)	M875K	probably benign	Het
Ttc22	T	A	4: 106,479,869 (GRCm39)	L41Q	possibly damaging	Het
Vasn	T	A	16: 4,467,659 (GRCm39)	C535*	probably null	Het
Vcan	T	A	13: 89,837,856 (GRCm39)	I2563F	probably damaging	Het
Vmn2r63	T	G	7: 42,576,297 (GRCm39)	Q505H	probably damaging	Het
Vmn2r65	T	G	7: 84,592,781 (GRCm39)	Q475H	probably damaging	Het
Zbtb43	T	C	2: 33,344,532 (GRCm39)	Y231C	probably damaging	Het
Zfp292	A	G	4: 34,810,266 (GRCm39)	V931A	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
R1398:Grsf1	UTSW	5	88,813,706 (GRCm39)	missense	probably benign	0.03
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'- ACACCAGAGCTGAAACGATG -3'
(R):5'- AGTGCCTGAGCTTATGTACAG -3'

Sequencing Primer
(F):5'- CAGAGCTGAAACGATGGCTTTTCC -3'
(R):5'- GCCTGAGCTTATGTACAGAATCTG -3'

Posted On

2014-10-01