Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Grsf1'

304657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grsf1

Ensembl Gene

ENSMUSG00000044221

Gene Name

G-rich RNA sequence binding factor 1

Synonyms

D5Wsu31e

Accession Numbers

Genbank: NM_178700; MGI: 106479

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

88659448-88676171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88672730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 64 (I64K)

Ref Sequence

ENSEMBL: ENSMUSP00000108860 (fasta)

Gene Model

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

AlphaFold

Q8C5Q4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078945
AA Change: I181K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: I181K

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 damaging
Transcript: ENSMUST00000113234
AA Change: I64K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: I64K

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

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

noncoding transcript
Transcript: ENSMUST00000137725

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Grsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Grsf1	APN	5	88670278	missense	probably damaging	1.00
IGL01505:Grsf1	APN	5	88672749	nonsense	probably null
IGL02108:Grsf1	APN	5	88665903	missense	probably benign	0.35
IGL02116:Grsf1	APN	5	88670174	critical splice donor site	probably null
IGL02881:Grsf1	APN	5	88673830	missense	probably damaging	1.00
R0336:Grsf1	UTSW	5	88663153	missense	probably damaging	0.96
R1381:Grsf1	UTSW	5	88665864	missense	probably benign	0.10
R1398:Grsf1	UTSW	5	88665847	missense	probably benign	0.03
R2136:Grsf1	UTSW	5	88672658	missense	probably benign	0.05
R2398:Grsf1	UTSW	5	88673836	missense	probably damaging	1.00
R4181:Grsf1	UTSW	5	88664156	missense	probably benign	0.00
R4182:Grsf1	UTSW	5	88664156	missense	probably benign	0.00
R4183:Grsf1	UTSW	5	88664156	missense	probably benign	0.00
R4184:Grsf1	UTSW	5	88664156	missense	probably benign	0.00
R5315:Grsf1	UTSW	5	88673775	start gained	probably benign
R6246:Grsf1	UTSW	5	88662592	missense	possibly damaging	0.81
R7359:Grsf1	UTSW	5	88665564	splice site	probably null
R7381:Grsf1	UTSW	5	88665807	missense	probably benign	0.02
R7430:Grsf1	UTSW	5	88663227	missense	possibly damaging	0.67
R7703:Grsf1	UTSW	5	88671291	missense	probably damaging	1.00
R7838:Grsf1	UTSW	5	88675664	start gained	probably benign
R8013:Grsf1	UTSW	5	88675756	critical splice donor site	probably null
R9334:Grsf1	UTSW	5	88672610	missense	probably damaging	0.99
YA93:Grsf1	UTSW	5	88673735	missense	probably damaging	1.00

Posted On

2015-04-16