Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Sf1'

368887

Institutional Source

Beutler Lab

Gene Symbol

Sf1

Ensembl Gene

ENSMUSG00000024949

Gene Name

splicing factor 1

Synonyms

WBP4, CW17R, Zfp162, MZFM

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4794 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

6413952-6428060 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 6425694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113485] [ENSMUST00000113487] [ENSMUST00000113488] [ENSMUST00000113489] [ENSMUST00000124667] [ENSMUST00000131252] [ENSMUST00000144409] [ENSMUST00000155973]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113485

SMART Domains

Protein: ENSMUSP00000109113
Gene: ENSMUSG00000024949

Domain	Start	End	E-Value	Type
PDB:2M0G\|A	1	86	3e-33	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000113487

SMART Domains

Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949

Domain	Start	End	E-Value	Type
KH	134	227	4.38e-13	SMART
ZnF_C2HC	278	294	4.45e-3	SMART
low complexity region	335	358	N/A	INTRINSIC
low complexity region	378	402	N/A	INTRINSIC
low complexity region	406	446	N/A	INTRINSIC
low complexity region	468	524	N/A	INTRINSIC
low complexity region	532	540	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000113488
AA Change: T530K

SMART Domains

Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949
AA Change: T530K

Domain	Start	End	E-Value	Type
KH	134	227	4.38e-13	SMART
ZnF_C2HC	278	294	4.45e-3	SMART
low complexity region	335	358	N/A	INTRINSIC
low complexity region	378	402	N/A	INTRINSIC
low complexity region	406	446	N/A	INTRINSIC
low complexity region	468	524	N/A	INTRINSIC
low complexity region	545	553	N/A	INTRINSIC
low complexity region	567	599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113489

SMART Domains

Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949

Domain	Start	End	E-Value	Type
KH	134	227	4.38e-13	SMART
ZnF_C2HC	278	294	4.45e-3	SMART
low complexity region	335	358	N/A	INTRINSIC
low complexity region	378	402	N/A	INTRINSIC
low complexity region	406	448	N/A	INTRINSIC
low complexity region	472	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124667

SMART Domains

Protein: ENSMUSP00000114788
Gene: ENSMUSG00000024949

Domain	Start	End	E-Value	Type
low complexity region	22	46	N/A	INTRINSIC
low complexity region	50	90	N/A	INTRINSIC
low complexity region	120	176	N/A	INTRINSIC
low complexity region	184	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125516

SMART Domains

Protein: ENSMUSP00000117172
Gene: ENSMUSG00000024949

Domain	Start	End	E-Value	Type
low complexity region	24	47	N/A	INTRINSIC
low complexity region	67	91	N/A	INTRINSIC
low complexity region	95	135	N/A	INTRINSIC
low complexity region	157	171	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000131252
AA Change: T530K

SMART Domains

Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949
AA Change: T530K

Domain	Start	End	E-Value	Type
Pfam:SF1-HH	18	130	1.5e-47	PFAM
KH	134	227	4.38e-13	SMART
ZnF_C2HC	278	294	4.45e-3	SMART
low complexity region	335	358	N/A	INTRINSIC
low complexity region	378	402	N/A	INTRINSIC
low complexity region	406	446	N/A	INTRINSIC
low complexity region	468	524	N/A	INTRINSIC
low complexity region	545	553	N/A	INTRINSIC
low complexity region	564	609	N/A	INTRINSIC
low complexity region	615	637	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162237
AA Change: D132E

SMART Domains

Protein: ENSMUSP00000124590
Gene: ENSMUSG00000024949
AA Change: D132E

Domain	Start	End	E-Value	Type
low complexity region	11	55	N/A	INTRINSIC
low complexity region	74	119	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131677

Predicted Effect

probably benign
Transcript: ENSMUST00000144409

SMART Domains

Protein: ENSMUSP00000123175
Gene: ENSMUSG00000024949

Domain	Start	End	E-Value	Type
PDB:2M09\|A	1	27	4e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000155973

SMART Domains

Protein: ENSMUSP00000114438
Gene: ENSMUSG00000024949

Domain	Start	End	E-Value	Type
PDB:4FXW\|D	1	106	9e-71	PDB
KH	108	201	4.38e-13	SMART
ZnF_C2HC	252	267	1.43e-1	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

MGI Phenotype

PHENOTYPE: Mice heterozygous for a gene trapped allele exhibit embryonic lethalilty prior to E8.5. Mice heterozygous for a gene trapped allele exhibit increased incidence of chemically induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly damaging	Het

Other mutations in Sf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Sf1	APN	19	6,422,052 (GRCm39)	unclassified	probably benign
IGL01713:Sf1	APN	19	6,424,319 (GRCm39)	critical splice donor site	probably null
G1Funyon:Sf1	UTSW	19	6,418,396 (GRCm39)	nonsense	probably null
R0004:Sf1	UTSW	19	6,424,221 (GRCm39)	missense	probably damaging	0.98
R1638:Sf1	UTSW	19	6,422,090 (GRCm39)	missense	possibly damaging	0.62
R2999:Sf1	UTSW	19	6,424,906 (GRCm39)	unclassified	probably benign
R4088:Sf1	UTSW	19	6,418,470 (GRCm39)	critical splice donor site	probably null
R4254:Sf1	UTSW	19	6,421,677 (GRCm39)	missense	probably damaging	1.00
R4559:Sf1	UTSW	19	6,424,845 (GRCm39)	small deletion	probably benign
R4575:Sf1	UTSW	19	6,425,943 (GRCm39)	unclassified	probably benign
R4736:Sf1	UTSW	19	6,415,694 (GRCm39)	missense	probably damaging	0.99
R5050:Sf1	UTSW	19	6,422,589 (GRCm39)	missense	probably damaging	1.00
R6678:Sf1	UTSW	19	6,424,543 (GRCm39)	splice site	probably null
R6834:Sf1	UTSW	19	6,424,127 (GRCm39)	missense	probably damaging	1.00
R7248:Sf1	UTSW	19	6,426,383 (GRCm39)	missense	unknown
R7574:Sf1	UTSW	19	6,422,234 (GRCm39)	missense	probably damaging	0.96
R8100:Sf1	UTSW	19	6,422,368 (GRCm39)	missense	possibly damaging	0.70
R8301:Sf1	UTSW	19	6,418,396 (GRCm39)	nonsense	probably null
R8996:Sf1	UTSW	19	6,426,441 (GRCm39)	missense
R9030:Sf1	UTSW	19	6,426,336 (GRCm39)	missense
R9250:Sf1	UTSW	19	6,424,764 (GRCm39)	missense	unknown
R9351:Sf1	UTSW	19	6,415,694 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTTGTTAAGCCCAGAGACCATGAG -3'
(R):5'- ATACATCATGCCGGCGGAAC -3'

Sequencing Primer
(F):5'- CAGAGACCATGAGGCTGACC -3'
(R):5'- CGGAACCAGGTGGCGGAG -3'

Posted On

2016-02-04