Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Sf1'

32426

Institutional Source

Beutler Lab

Gene Symbol

Sf1

Ensembl Gene

ENSMUSG00000024949

Gene Name

splicing factor 1

Synonyms

WBP4, CW17R, Zfp162, MZFM

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0004 (G1)

Quality Score

205

Status

Validated (trace)

Chromosome

Chromosomal Location

6413952-6428060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6424221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 417 (P417Q)

Ref Sequence

ENSEMBL: ENSMUSP00000121309 (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 damaging
Transcript: ENSMUST00000113487
AA Change: P417Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949
AA Change: P417Q

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

probably damaging
Transcript: ENSMUST00000113488
AA Change: P417Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949
AA Change: P417Q

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

unknown
Transcript: ENSMUST00000113489
AA Change: P417Q

SMART Domains

Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949
AA Change: P417Q

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

unknown
Transcript: ENSMUST00000124667
AA Change: P61Q

SMART Domains

Protein: ENSMUSP00000114788
Gene: ENSMUSG00000024949
AA Change: P61Q

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

unknown
Transcript: ENSMUST00000125516
AA Change: P105Q

SMART Domains

Protein: ENSMUSP00000117172
Gene: ENSMUSG00000024949
AA Change: P105Q

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

probably damaging
Transcript: ENSMUST00000131252
AA Change: P417Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949
AA Change: P417Q

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: P21Q

SMART Domains

Protein: ENSMUSP00000124590
Gene: ENSMUSG00000024949
AA Change: P21Q

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: ENSMUST00000131677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144239

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Colec10	G	T	15: 54,274,271 (GRCm39)	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Luc7l2	A	T	6: 38,566,169 (GRCm39)	K52M	probably damaging	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Or51k1	A	T	7: 103,661,638 (GRCm39)	N90K	probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prkaa2	C	T	4: 104,904,288 (GRCm39)	R263Q	probably null	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,135 (GRCm39)	T678A	probably benign	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Wrn	A	T	8: 33,807,588 (GRCm39)	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	probably benign	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
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
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'- TCATGTCTACAACTCAGAGCCGCC -3'
(R):5'- TCCATGAGCCTAGACCTCAGCAAG -3'

Sequencing Primer
(F):5'- CCACCCTGGATGAATTCTGGTC -3'
(R):5'- TCAGCAAGATTCAGAGTACTAGC -3'

Posted On

2013-05-09