Mutagenetix > Incidental Mutation

Incidental Mutation 'R7430:Grsf1'

576386

Institutional Source

Beutler Lab

Gene Symbol

Grsf1

Ensembl Gene

ENSMUSG00000044221

Gene Name

G-rich RNA sequence binding factor 1

Synonyms

D5Wsu31e

MMRRC Submission

045508-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88807307-88824030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88811086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 428 (I428N)

Ref Sequence

ENSEMBL: ENSMUSP00000077972 (fasta)

Gene Model

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

AlphaFold

Q8C5Q4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078945
AA Change: I428N

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: I428N

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: I311N

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

SMART Domains

Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: I311N

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: 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: 99.9%
10x: 99.6%
20x: 98.6%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	C	17: 24,583,932 (GRCm39)		probably null	Het
Ankrd17	C	G	5: 90,443,516 (GRCm39)	E384Q	possibly damaging	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
C2cd4d	G	A	3: 94,271,657 (GRCm39)	V308M	possibly damaging	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Card6	G	T	15: 5,128,682 (GRCm39)	Q905K	probably benign	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cimap3	T	C	3: 105,921,834 (GRCm39)	R30G	probably benign	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dnah8	T	C	17: 30,925,363 (GRCm39)	F1266S	probably damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fat4	T	A	3: 38,941,599 (GRCm39)	I164N	probably damaging	Het
Fat4	A	G	3: 39,063,793 (GRCm39)	D4583G	probably damaging	Het
Fgb	C	T	3: 82,954,014 (GRCm39)	V75I	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Gclm	G	A	3: 122,039,729 (GRCm39)	R32Q	probably benign	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hscb	T	A	5: 110,977,024 (GRCm39)	I223L	probably benign	Het
Ifi204	C	T	1: 173,583,247 (GRCm39)	A324T	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Loricrin	C	T	3: 91,989,206 (GRCm39)	G27S	unknown	Het
Lpin3	A	G	2: 160,740,586 (GRCm39)	D377G	probably benign	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myh1	C	T	11: 67,096,393 (GRCm39)	Q291*	probably null	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Nkx6-2	T	C	7: 139,161,916 (GRCm39)	T154A	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Ovgp1	G	C	3: 105,893,618 (GRCm39)	A464P	probably damaging	Het
Ovgp1	C	T	3: 105,893,619 (GRCm39)	A464V	possibly damaging	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Per2	C	A	1: 91,351,705 (GRCm39)	E934*	probably null	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Postn	T	A	3: 54,277,623 (GRCm39)	V206D	probably damaging	Het
Prss29	T	A	17: 25,540,113 (GRCm39)		probably null	Het
Ptges3l	C	A	11: 101,314,641 (GRCm39)	V85L	possibly damaging	Het
Riok2	T	C	17: 17,607,802 (GRCm39)	L450S	probably benign	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Slco1a5	A	T	6: 142,194,438 (GRCm39)	S402T	probably benign	Het
Smad2	T	A	18: 76,421,151 (GRCm39)	V160E	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Tmem120a	T	A	5: 135,764,990 (GRCm39)		probably null	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Trim33	T	C	3: 103,218,219 (GRCm39)	I256T	possibly damaging	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
Tufm	A	G	7: 126,088,299 (GRCm39)	D228G	probably benign	Het
Usf1	T	A	1: 171,245,295 (GRCm39)	S236T	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Usp46	T	A	5: 74,163,849 (GRCm39)	Y296F	probably damaging	Het
Vmn2r82	A	G	10: 79,217,087 (GRCm39)	N473S	probably damaging	Het
Washc5	A	T	15: 59,241,762 (GRCm39)	Y51*	probably null	Het
Zbtb47	G	A	9: 121,592,732 (GRCm39)	D351N	probably benign	Het
Zfp763	T	A	17: 33,238,506 (GRCm39)	Y213F	possibly damaging	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	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
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'- AATAACTGGGTGTGCTGGCC -3'
(R):5'- ATGGCAGTTCTCAAGGCTGG -3'

Sequencing Primer
(F):5'- GAGTGAAACATCCTCAGACTAGC -3'
(R):5'- TACAGGGATCAGACTTCTCCTGG -3'

Posted On

2019-10-07