Mutagenetix > Incidental Mutation

Incidental Mutation 'R1638:Sf1'

173345

Institutional Source

Beutler Lab

Gene Symbol

Sf1

Ensembl Gene

ENSMUSG00000024949

Gene Name

splicing factor 1

Synonyms

WBP4, CW17R, Zfp162, MZFM

MMRRC Submission

039674-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6413952-6428060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6422090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 172 (N172S)

Ref Sequence

ENSEMBL: ENSMUSP00000109116 (fasta)

Gene Model

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

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
AA Change: N172S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949
AA Change: N172S

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

possibly damaging
Transcript: ENSMUST00000113488
AA Change: N172S

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949
AA Change: N172S

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
AA Change: N172S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949
AA Change: N172S

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

possibly damaging
Transcript: ENSMUST00000131252
AA Change: N172S

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949
AA Change: N172S

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

probably benign
Transcript: ENSMUST00000155973
AA Change: N146S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114438
Gene: ENSMUSG00000024949
AA Change: N146S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146298

Predicted Effect

probably benign
Transcript: ENSMUST00000162237

SMART Domains

Protein: ENSMUSP00000124590
Gene: ENSMUSG00000024949

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

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

Meta Mutation Damage Score

0.0859

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 87.8%

Validation Efficiency

99% (79/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Agfg1	A	T	1: 82,871,259 (GRCm39)	Q497L	probably damaging	Het
Ahnak	A	G	19: 8,986,813 (GRCm39)	H2699R	probably benign	Het
Antxrl	G	T	14: 33,792,453 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,410,418 (GRCm39)	V176E	probably damaging	Het
Arid5b	T	C	10: 68,113,777 (GRCm39)	N87D	possibly damaging	Het
Atp2c1	A	T	9: 105,309,897 (GRCm39)	I560N	probably damaging	Het
Atp2c2	T	C	8: 120,482,742 (GRCm39)	F868S	possibly damaging	Het
Blnk	G	C	19: 40,926,122 (GRCm39)	F326L	probably benign	Het
Bltp1	C	T	3: 37,089,961 (GRCm39)	R4130*	probably null	Het
Ckap2	C	T	8: 22,665,812 (GRCm39)	V412I	possibly damaging	Het
Clmn	A	G	12: 104,748,281 (GRCm39)	V422A	probably benign	Het
Ctnnal1	A	G	4: 56,813,856 (GRCm39)	S638P	probably benign	Het
Cyp2j5	T	C	4: 96,524,052 (GRCm39)	S327G	probably benign	Het
Dhx38	G	A	8: 110,280,177 (GRCm39)	T871M	probably damaging	Het
Dmxl1	A	T	18: 50,023,834 (GRCm39)	K1706*	probably null	Het
Dnah11	A	G	12: 117,979,154 (GRCm39)	L2648P	possibly damaging	Het
Elf2	G	A	3: 51,215,530 (GRCm39)	T60I	probably damaging	Het
Fam120b	T	A	17: 15,622,759 (GRCm39)	C246S	possibly damaging	Het
Fcho2	G	T	13: 98,882,403 (GRCm39)	T451K	possibly damaging	Het
Fzd9	T	A	5: 135,278,602 (GRCm39)	I428F	probably damaging	Het
Galnt13	T	A	2: 54,744,667 (GRCm39)	V122E	probably damaging	Het
Gm21738	T	A	14: 19,418,908 (GRCm38)	Y8F	probably benign	Het
Gnptab	A	G	10: 88,272,029 (GRCm39)	I940V	possibly damaging	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpr6	A	G	10: 40,946,530 (GRCm39)	S351P	probably benign	Het
Gprin1	T	C	13: 54,887,689 (GRCm39)	E195G	possibly damaging	Het
Grm8	A	T	6: 28,125,882 (GRCm39)	Y81*	probably null	Het
Gtf3c3	A	T	1: 54,444,278 (GRCm39)	N703K	probably damaging	Het
Hhipl2	G	A	1: 183,208,921 (GRCm39)	V495I	probably benign	Het
Islr	G	A	9: 58,065,502 (GRCm39)		probably benign	Het
Lrrc36	T	C	8: 106,176,273 (GRCm39)	Y216H	possibly damaging	Het
Macroh2a1	T	A	13: 56,252,722 (GRCm39)	N87Y	probably damaging	Het
Me2	A	G	18: 73,906,205 (GRCm39)	I528T	probably benign	Het
Mecr	A	T	4: 131,585,127 (GRCm39)	I156F	possibly damaging	Het
Megf6	A	G	4: 154,346,967 (GRCm39)		probably benign	Het
Mn1	T	A	5: 111,569,435 (GRCm39)	L1135H	probably damaging	Het
Naip5	A	G	13: 100,349,177 (GRCm39)	S1384P	probably damaging	Het
Nav2	A	G	7: 49,102,213 (GRCm39)	N337S	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neb	A	T	2: 52,139,293 (GRCm39)	H3107Q	probably benign	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nsd2	G	A	5: 34,039,464 (GRCm39)	R825Q	possibly damaging	Het
Nsun2	A	G	13: 69,775,705 (GRCm39)	N383S	probably damaging	Het
Ntrk3	A	T	7: 77,897,036 (GRCm39)	M667K	probably damaging	Het
Or10a48	A	C	7: 108,424,442 (GRCm39)	C255G	probably benign	Het
Or11h6	G	A	14: 50,880,565 (GRCm39)	V276M	possibly damaging	Het
Or1e29	A	G	11: 73,667,974 (GRCm39)	Y60H	possibly damaging	Het
Or6c2	A	T	10: 129,362,488 (GRCm39)	M131L	probably benign	Het
Pex6	T	C	17: 47,033,558 (GRCm39)	V633A	probably benign	Het
Phactr1	C	T	13: 43,110,147 (GRCm39)	T95M	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pkhd1l1	A	C	15: 44,460,513 (GRCm39)	I4241L	probably benign	Het
Ppwd1	T	C	13: 104,356,771 (GRCm39)	E248G	probably damaging	Het
Prepl	A	C	17: 85,379,509 (GRCm39)	M393R	probably benign	Het
Ptpn6	T	C	6: 124,698,148 (GRCm39)	S532G	probably benign	Het
Rnase11	G	T	14: 51,287,058 (GRCm39)	H165Q	possibly damaging	Het
Shprh	T	A	10: 11,032,822 (GRCm39)	D269E	probably benign	Het
Slc16a1	T	C	3: 104,556,798 (GRCm39)	I61T	possibly damaging	Het
Slc38a2	A	C	15: 96,590,417 (GRCm39)	I309S	probably damaging	Het
Sry	C	G	Y: 2,663,149 (GRCm39)	Q170H	unknown	Het
Stk3	A	C	15: 35,008,454 (GRCm39)		probably null	Het
Tg	C	A	15: 66,568,015 (GRCm39)	C1306*	probably null	Het
Tnik	A	G	3: 28,719,889 (GRCm39)	M1254V	probably damaging	Het
U2surp	T	C	9: 95,366,280 (GRCm39)	E474G	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,587 (GRCm39)	F55I	probably benign	Het
Vmn1r32	A	G	6: 66,529,939 (GRCm39)	I279T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,581,543 (GRCm39)	D15G	probably benign	Het
Zfp827	C	A	8: 79,802,975 (GRCm39)	P516T	possibly damaging	Het
Zfyve9	A	T	4: 108,542,104 (GRCm39)		probably null	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
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
R4794:Sf1	UTSW	19	6,425,694 (GRCm39)	unclassified	probably benign
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'- AGTCCTTGACTAGGTGATCCCACG -3'
(R):5'- GCCAACTCTCGAAGCTGCATTTTCC -3'

Sequencing Primer
(F):5'- CGTGCTGCATTTTGCAGTTTC -3'
(R):5'- AAGCTGCATTTTCCGTAGATCG -3'

Posted On

2014-04-24