Mutagenetix > Incidental Mutation

Incidental Mutation 'R7703:Grsf1'

594113

Institutional Source

Beutler Lab

Gene Symbol

Grsf1

Ensembl Gene

ENSMUSG00000044221

Gene Name

G-rich RNA sequence binding factor 1

Synonyms

D5Wsu31e

MMRRC Submission

045764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88807307-88824030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88819150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 228 (N228Y)

Ref Sequence

ENSEMBL: ENSMUSP00000077972 (fasta)

Gene Model

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

AlphaFold

Q8C5Q4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078945
AA Change: N228Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: N228Y

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: N111Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: N111Y

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 damaging
Transcript: ENSMUST00000133532
AA Change: N30Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114732
Gene: ENSMUSG00000044221
AA Change: N30Y

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 damaging
Transcript: ENSMUST00000153565
AA Change: N30Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123051
Gene: ENSMUSG00000044221
AA Change: N30Y

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: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,316,593 (GRCm39)	I191T	probably damaging	Het
2310003L06Rik	T	C	5: 88,120,671 (GRCm39)	L476P	possibly damaging	Het
Aasdh	T	C	5: 77,035,924 (GRCm39)	D387G	probably damaging	Het
Ahsa2	T	A	11: 23,440,415 (GRCm39)	T327S	probably benign	Het
Ap3d1	A	T	10: 80,553,678 (GRCm39)	V523E	probably damaging	Het
Baz2b	C	A	2: 59,747,769 (GRCm39)	R1298L	probably damaging	Het
Cacna2d3	T	C	14: 28,765,503 (GRCm39)	T802A	possibly damaging	Het
Cdh23	G	T	10: 60,173,043 (GRCm39)	T1714K	probably damaging	Het
Chrna3	A	T	9: 54,923,408 (GRCm39)	D133E	probably benign	Het
Cnot1	C	T	8: 96,486,726 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,990,295 (GRCm39)	N1396Y	unknown	Het
Cox11	A	G	11: 90,529,245 (GRCm39)	N77S	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cytip	A	G	2: 58,037,920 (GRCm39)	V148A	probably damaging	Het
Diaph1	T	C	18: 38,023,862 (GRCm39)	I659V	unknown	Het
Dmxl2	A	T	9: 54,368,370 (GRCm39)	M26K	probably benign	Het
Erp44	T	A	4: 48,196,904 (GRCm39)	I340F	probably benign	Het
Fam186a	A	G	15: 99,852,678 (GRCm39)	M180T	unknown	Het
Frem2	C	T	3: 53,429,589 (GRCm39)	V2793I	probably benign	Het
Gm19410	A	G	8: 36,266,539 (GRCm39)	E1064G	probably damaging	Het
Gria4	T	C	9: 4,503,588 (GRCm39)	I343V	probably benign	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Ighv1-18	A	T	12: 114,646,381 (GRCm39)	N74K	probably benign	Het
Kcnh6	A	T	11: 105,914,703 (GRCm39)	T703S	probably benign	Het
Lrp1b	T	A	2: 41,000,798 (GRCm39)	D2256V		Het
Lrrc63	T	C	14: 75,360,447 (GRCm39)	T352A	possibly damaging	Het
Lztfl1	T	C	9: 123,531,194 (GRCm39)	E258G	probably damaging	Het
Mcph1	T	C	8: 18,721,122 (GRCm39)	I650T	possibly damaging	Het
Mep1a	T	C	17: 43,788,997 (GRCm39)	D606G	possibly damaging	Het
Muc16	T	C	9: 18,516,578 (GRCm39)	I313M		Het
Myh7b	A	G	2: 155,462,356 (GRCm39)	Y353C	probably null	Het
Nfatc1	A	G	18: 80,725,504 (GRCm39)	L420P	probably damaging	Het
Olfml1	A	G	7: 107,170,392 (GRCm39)	E93G	probably damaging	Het
Or6b1	A	T	6: 42,814,938 (GRCm39)	E41V	probably damaging	Het
Or8c11	A	G	9: 38,289,357 (GRCm39)	H54R	probably benign	Het
Pax1	A	T	2: 147,208,034 (GRCm39)	N214I	probably damaging	Het
Pcdhb17	C	A	18: 37,619,801 (GRCm39)	H530Q	probably benign	Het
Pcdhgb7	A	T	18: 37,885,321 (GRCm39)	M164L	probably benign	Het
Pcolce	T	C	5: 137,603,474 (GRCm39)	N453S	probably benign	Het
Prr36	T	C	8: 4,262,982 (GRCm39)	T895A	probably benign	Het
Ptprq	C	T	10: 107,480,007 (GRCm39)	V1088I	probably benign	Het
Rab5a	T	A	17: 53,807,485 (GRCm39)	F174I	probably damaging	Het
Rapgef4	A	G	2: 72,010,315 (GRCm39)	D291G	probably benign	Het
Rbm25	A	T	12: 83,721,864 (GRCm39)	K683N	possibly damaging	Het
Rbpj	T	C	5: 53,803,240 (GRCm39)	I156T	probably damaging	Het
Rgsl1	A	G	1: 153,669,610 (GRCm39)	S259P	possibly damaging	Het
Ring1	T	C	17: 34,242,109 (GRCm39)	D100G	probably damaging	Het
Ryr3	A	T	2: 112,690,110 (GRCm39)	D1166E	probably damaging	Het
Sacs	A	G	14: 61,443,539 (GRCm39)	K1862E	possibly damaging	Het
Scamp5	A	G	9: 57,354,465 (GRCm39)	I63T	possibly damaging	Het
Septin14	C	T	5: 129,763,092 (GRCm39)	A334T	possibly damaging	Het
Sh3rf2	A	T	18: 42,289,201 (GRCm39)	Q706L	probably benign	Het
Skap2	A	T	6: 51,884,934 (GRCm39)	H242Q	probably benign	Het
Spmap2l	T	C	5: 77,164,444 (GRCm39)	I149T	probably benign	Het
Tfpt	A	G	7: 3,623,744 (GRCm39)		probably null	Het
Thg1l	T	G	11: 45,846,120 (GRCm39)	D58A	probably damaging	Het
Thyn1	A	G	9: 26,918,143 (GRCm39)	E177G	probably benign	Het
Tmem151b	C	T	17: 45,856,724 (GRCm39)	A239T	probably damaging	Het
Ttc21a	T	C	9: 119,788,095 (GRCm39)	V840A	probably benign	Het
Usp32	A	T	11: 84,968,153 (GRCm39)	V170E	probably damaging	Het
Vmn2r29	A	G	7: 7,234,864 (GRCm39)	V674A	probably benign	Het
Vwa8	A	G	14: 79,263,513 (GRCm39)	N781S	probably damaging	Het
Zbtb7c	C	A	18: 76,270,433 (GRCm39)	Q174K	probably benign	Het
Zeb1	T	C	18: 5,766,917 (GRCm39)	I476T	probably benign	Het
Zfp91	A	T	19: 12,754,241 (GRCm39)	D282E	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
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
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'- GGATCTGCCTCAAAGACTGAAAC -3'
(R):5'- TGCCTGGATCACAGTATATATTCAATG -3'

Sequencing Primer
(F):5'- TCTGCCTCAAAGACTGAAACACTTC -3'
(R):5'- GTTTGAATTCAAGTAGCAGTG -3'

Posted On

2019-11-12