Mutagenetix > Incidental Mutation

Incidental Mutation 'R8013:Grsf1'

616992

Institutional Source

Beutler Lab

Gene Symbol

Grsf1

Ensembl Gene

ENSMUSG00000044221

Gene Name

G-rich RNA sequence binding factor 1

Synonyms

D5Wsu31e

MMRRC Submission

067453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8013 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

88659448-88676171 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 88675756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077972 (fasta)

Gene Model

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

AlphaFold

Q8C5Q4

Predicted Effect

probably null
Transcript: ENSMUST00000078945

SMART Domains

Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221

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

SMART Domains

Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221

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

probably benign
Transcript: ENSMUST00000133532

SMART Domains

Protein: ENSMUSP00000114732
Gene: ENSMUSG00000044221

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150438

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	G	6: 149,328,870 (GRCm38)	V1138G	probably damaging	Het
6030458C11Rik	C	A	15: 12,824,529 (GRCm38)	D7Y	probably benign	Het
9530053A07Rik	G	A	7: 28,137,541 (GRCm38)	R295H	probably benign	Het
Ahnak	A	G	19: 9,009,335 (GRCm38)	D2661G	unknown	Het
Akap13	G	A	7: 75,730,465 (GRCm38)	R462H	probably damaging	Het
Apob	T	A	12: 8,010,798 (GRCm38)	N3093K	possibly damaging	Het
Baz2a	T	G	10: 128,125,292 (GRCm38)	V1628G	possibly damaging	Het
Baz2a	C	T	10: 128,125,288 (GRCm38)	R1627C	probably benign	Het
Bbs7	A	T	3: 36,594,387 (GRCm38)	I404K	probably damaging	Het
BC030867	A	G	11: 102,257,899 (GRCm38)	N379D	probably benign	Het
Cacna1g	T	C	11: 94,456,970 (GRCm38)	Y764C	probably damaging	Het
Casr	G	A	16: 36,509,644 (GRCm38)	L443F	probably benign	Het
Cfap43	T	A	19: 47,773,109 (GRCm38)	I849F	probably damaging	Het
Cntn3	A	T	6: 102,199,317 (GRCm38)	H812Q	probably benign	Het
Cog1	A	G	11: 113,656,164 (GRCm38)	D528G	probably damaging	Het
Depdc5	C	T	5: 32,973,842 (GRCm38)	T1229M	probably benign	Het
Dis3	T	A	14: 99,077,399 (GRCm38)	R954W	possibly damaging	Het
Disp2	T	A	2: 118,789,682 (GRCm38)	Y298*	probably null	Het
Dock2	A	C	11: 34,705,850 (GRCm38)	I393S	probably damaging	Het
Dtd1	A	G	2: 144,617,332 (GRCm38)	D92G	probably damaging	Het
Eef2	T	A	10: 81,178,196 (GRCm38)	V121D	probably damaging	Het
Eml1	T	A	12: 108,521,679 (GRCm38)	I550N	probably benign	Het
Entpd7	A	G	19: 43,728,055 (GRCm38)	D496G	probably benign	Het
Ets2	T	A	16: 95,716,100 (GRCm38)	L292Q	probably damaging	Het
Ext1	T	C	15: 53,075,887 (GRCm38)	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,685,506 (GRCm38)	E142D	possibly damaging	Het
Farp1	T	A	14: 121,242,401 (GRCm38)	I368N	probably damaging	Het
Fars2	C	T	13: 36,205,085 (GRCm38)	Q186*	probably null	Het
Fbn2	T	C	18: 58,104,081 (GRCm38)	T617A	possibly damaging	Het
Fbxo38	T	C	18: 62,530,811 (GRCm38)	E203G	possibly damaging	Het
Fhdc1	A	T	3: 84,474,639 (GRCm38)	M1K	probably null	Het
Gatad1	T	C	5: 3,643,540 (GRCm38)	R210G	probably benign	Het
Gm28363	A	G	1: 117,726,804 (GRCm38)	R58G	probably benign	Het
Gm8356	A	T	14: 6,536,303 (GRCm38)	N58K	probably damaging	Het
Hephl1	T	A	9: 15,054,609 (GRCm38)	D1016V	possibly damaging	Het
Kcnma1	T	A	14: 23,373,143 (GRCm38)	I831F	probably benign	Het
Krt78	T	C	15: 101,948,542 (GRCm38)	R377G	probably damaging	Het
Lama2	T	C	10: 27,344,498 (GRCm38)	H457R	probably benign	Het
Lmnb1	T	A	18: 56,708,359 (GRCm38)	Y83N	probably damaging	Het
Loxl4	A	G	19: 42,607,676 (GRCm38)	C113R	probably damaging	Het
Lrba	A	T	3: 86,417,971 (GRCm38)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,526,826 (GRCm38)	T212S	probably benign	Het
Map3k4	A	T	17: 12,271,031 (GRCm38)	C504*	probably null	Het
Map4k4	T	C	1: 39,962,212 (GRCm38)	I53T	unknown	Het
Myo5b	C	T	18: 74,760,899 (GRCm38)	Q1700*	probably null	Het
Npas2	T	C	1: 39,338,065 (GRCm38)	F503L	probably benign	Het
Nrg1	A	T	8: 31,949,923 (GRCm38)	S149T	probably benign	Het
Olfr1243	A	G	2: 89,527,936 (GRCm38)	V158A	probably benign	Het
Olfr155	T	A	4: 43,854,958 (GRCm38)	F216L	probably benign	Het
Olfr697	C	T	7: 106,741,617 (GRCm38)	V106I	probably benign	Het
Olfr824	T	A	10: 130,126,778 (GRCm38)	K93M	probably damaging	Het
Pdia6	T	C	12: 17,273,965 (GRCm38)	L66S	probably damaging	Het
Prss35	T	C	9: 86,755,425 (GRCm38)	S83P	probably damaging	Het
Psme4	G	A	11: 30,804,320 (GRCm38)	M192I	probably benign	Het
Ptprs	A	C	17: 56,435,994 (GRCm38)	S383A	probably damaging	Het
Sar1b	C	T	11: 51,779,794 (GRCm38)	P55L	possibly damaging	Het
Sgsh	A	G	11: 119,352,695 (GRCm38)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,311,478 (GRCm38)	Y465C	probably damaging	Het
Soga1	A	G	2: 157,030,786 (GRCm38)		probably null	Het
Stard9	T	C	2: 120,688,101 (GRCm38)	I502T	probably damaging	Het
Sugp2	T	A	8: 70,251,642 (GRCm38)	Y610N	probably damaging	Het
Tbc1d24	G	A	17: 24,182,821 (GRCm38)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,292,898 (GRCm38)	I99V	probably benign	Het
Tpr	G	T	1: 150,398,608 (GRCm38)	V163L	probably benign	Het
Usp31	T	C	7: 121,649,257 (GRCm38)	S988G	probably damaging	Het
Wdr63	T	C	3: 146,081,285 (GRCm38)	T332A	probably damaging	Het
Zbtb26	T	A	2: 37,437,001 (GRCm38)		probably null	Het
Zfp536	T	C	7: 37,569,610 (GRCm38)	N127S	probably damaging	Het
Zfp750	T	A	11: 121,513,017 (GRCm38)	D344V	possibly damaging	Het
Zmym5	T	A	14: 56,794,426 (GRCm38)	K408N	possibly damaging	Het

Other mutations in Grsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Grsf1	APN	5	88,670,278 (GRCm38)	missense	probably damaging	1.00
IGL01505:Grsf1	APN	5	88,672,749 (GRCm38)	nonsense	probably null
IGL02108:Grsf1	APN	5	88,665,903 (GRCm38)	missense	probably benign	0.35
IGL02116:Grsf1	APN	5	88,670,174 (GRCm38)	critical splice donor site	probably null
IGL02713:Grsf1	APN	5	88,672,730 (GRCm38)	missense	probably damaging	1.00
IGL02881:Grsf1	APN	5	88,673,830 (GRCm38)	missense	probably damaging	1.00
R0336:Grsf1	UTSW	5	88,663,153 (GRCm38)	missense	probably damaging	0.96
R1381:Grsf1	UTSW	5	88,665,864 (GRCm38)	missense	probably benign	0.10
R1398:Grsf1	UTSW	5	88,665,847 (GRCm38)	missense	probably benign	0.03
R2136:Grsf1	UTSW	5	88,672,658 (GRCm38)	missense	probably benign	0.05
R2398:Grsf1	UTSW	5	88,673,836 (GRCm38)	missense	probably damaging	1.00
R4181:Grsf1	UTSW	5	88,664,156 (GRCm38)	missense	probably benign	0.00
R4182:Grsf1	UTSW	5	88,664,156 (GRCm38)	missense	probably benign	0.00
R4183:Grsf1	UTSW	5	88,664,156 (GRCm38)	missense	probably benign	0.00
R4184:Grsf1	UTSW	5	88,664,156 (GRCm38)	missense	probably benign	0.00
R5315:Grsf1	UTSW	5	88,673,775 (GRCm38)	start gained	probably benign
R6246:Grsf1	UTSW	5	88,662,592 (GRCm38)	missense	possibly damaging	0.81
R7359:Grsf1	UTSW	5	88,665,564 (GRCm38)	splice site	probably null
R7381:Grsf1	UTSW	5	88,665,807 (GRCm38)	missense	probably benign	0.02
R7430:Grsf1	UTSW	5	88,663,227 (GRCm38)	missense	possibly damaging	0.67
R7703:Grsf1	UTSW	5	88,671,291 (GRCm38)	missense	probably damaging	1.00
R7838:Grsf1	UTSW	5	88,675,664 (GRCm38)	start gained	probably benign
R9334:Grsf1	UTSW	5	88,672,610 (GRCm38)	missense	probably damaging	0.99
YA93:Grsf1	UTSW	5	88,673,735 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGACTCGGAGGGAAC -3'
(R):5'- TGCTGCTACTCCTCGGGG -3'

Sequencing Primer
(F):5'- CCAGACTCGGAGGGAACAAAAC -3'
(R):5'- AGGCTGGCGGGTCCCAT -3'

Posted On

2020-01-23