Mutagenetix > Incidental Mutation

Incidental Mutation 'R9250:Sf1'

701520

Institutional Source

Beutler Lab

Gene Symbol

Sf1

Ensembl Gene

ENSMUSG00000024949

Gene Name

splicing factor 1

Synonyms

WBP4, CW17R, Zfp162, MZFM

MMRRC Submission

068989-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6413952-6428060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6424764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 473 (P473L)

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

unknown
Transcript: ENSMUST00000113487
AA Change: P473L

SMART Domains

Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949
AA Change: P473L

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: P473L

SMART Domains

Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949
AA Change: P473L

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

silent
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

unknown
Transcript: ENSMUST00000124667
AA Change: P125L

SMART Domains

Protein: ENSMUSP00000114788
Gene: ENSMUSG00000024949
AA Change: P125L

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: P473L

SMART Domains

Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949
AA Change: P473L

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: 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

Predicted Effect

silent
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

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

98% (55/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	G	3: 137,772,389 (GRCm39)	A526G	probably damaging	Het
AAdacl4fm3	A	T	4: 144,442,011 (GRCm39)	I80K	probably benign	Het
Ablim3	A	G	18: 61,944,501 (GRCm39)	L526P	probably damaging	Het
Aknad1	T	C	3: 108,664,143 (GRCm39)	S369P	probably damaging	Het
Aldh8a1	T	C	10: 21,258,259 (GRCm39)	S119P	probably damaging	Het
Brpf3	T	C	17: 29,054,788 (GRCm39)	I1110T	probably damaging	Het
Cdk12	T	C	11: 98,101,398 (GRCm39)	S419P	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Crim1	C	T	17: 78,677,471 (GRCm39)	H891Y	probably benign	Het
Dapp1	T	C	3: 137,638,919 (GRCm39)	E269G	probably benign	Het
Ddt	T	C	10: 75,609,063 (GRCm39)	D32G	probably benign	Het
Dlg5	T	C	14: 24,240,543 (GRCm39)	D236G	probably benign	Het
Edem1	C	A	6: 108,805,850 (GRCm39)	D50E	probably benign	Het
Exoc5	A	T	14: 49,256,915 (GRCm39)	N490K	probably damaging	Het
Fam117a	C	A	11: 95,228,071 (GRCm39)	D60E	possibly damaging	Het
Fam186a	A	G	15: 99,845,330 (GRCm39)	S305P	unknown	Het
Fbxw21	A	G	9: 108,972,846 (GRCm39)	F363L	probably benign	Het
Fhl2	A	G	1: 43,167,422 (GRCm39)	C224R	probably damaging	Het
Gad1	T	A	2: 70,409,543 (GRCm39)	N211K	probably damaging	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Igkv3-5	T	C	6: 70,640,758 (GRCm39)	S80P	probably benign	Het
Igkv4-90	C	A	6: 68,784,331 (GRCm39)	G62*	probably null	Het
Il31ra	A	T	13: 112,669,508 (GRCm39)	Y386N	probably damaging	Het
Kif13a	G	T	13: 46,928,909 (GRCm39)	H1159N	probably damaging	Het
Kmt2a	G	A	9: 44,759,683 (GRCm39)	S722F	possibly damaging	Het
Mipep	T	C	14: 61,028,358 (GRCm39)	Y157H	probably damaging	Het
Mipol1	A	G	12: 57,461,169 (GRCm39)	E293G	probably damaging	Het
Mmp7	A	T	9: 7,697,885 (GRCm39)		probably benign	Het
Mr1	A	G	1: 155,013,325 (GRCm39)	L84P	probably damaging	Het
Neb	A	G	2: 52,168,913 (GRCm39)	V1874A	possibly damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nek1	T	C	8: 61,465,151 (GRCm39)	M80T	probably damaging	Het
Nubp2	A	G	17: 25,103,373 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,655,014 (GRCm39)	T275M	probably damaging	Het
Or5w11	T	C	2: 87,459,278 (GRCm39)	I41T	probably benign	Het
Or8b101	T	A	9: 38,020,718 (GRCm39)	C240*	probably null	Het
Ovch2	C	A	7: 107,392,542 (GRCm39)	R267L	probably damaging	Het
Pole	A	G	5: 110,447,687 (GRCm39)	E741G	possibly damaging	Het
Ptprh	T	A	7: 4,576,289 (GRCm39)	T324S	probably benign	Het
Pxk	T	A	14: 8,144,123 (GRCm38)	H290Q	probably damaging	Het
Rab11fip3	G	T	17: 26,237,219 (GRCm39)	T5N	unknown	Het
Rp9	G	A	9: 22,365,086 (GRCm39)	Q124*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,125,459 (GRCm39)	L19P	probably benign	Het
Slc9a2	C	T	1: 40,806,987 (GRCm39)	T758I	probably benign	Het
Spef1l	C	A	7: 139,556,395 (GRCm39)	K197N	probably benign	Het
Tas2r105	T	G	6: 131,663,951 (GRCm39)	H159P	probably benign	Het
Tas2r120	T	A	6: 132,633,954 (GRCm39)	M12K	probably benign	Het
Thoc2l	A	G	5: 104,667,320 (GRCm39)	Y614C	probably benign	Het
Trpv4	T	C	5: 114,764,941 (GRCm39)	Y691C	probably damaging	Het
Unc93a	A	G	17: 13,334,488 (GRCm39)	V337A	probably benign	Het
Usp17le	T	G	7: 104,418,839 (GRCm39)	Q101P	probably damaging	Het
Usp3	A	T	9: 66,449,793 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,092 (GRCm39)	S950G	possibly damaging	Het
Zfp644	T	G	5: 106,784,699 (GRCm39)	D616A	probably damaging	Het
Zfp759	T	G	13: 67,288,461 (GRCm39)	C671G	probably damaging	Het
Zgrf1	G	T	3: 127,379,797 (GRCm39)	C1111F	probably damaging	Het
Zmym2	T	A	14: 57,148,732 (GRCm39)	S349T	probably 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
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
R9351:Sf1	UTSW	19	6,415,694 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTTCAAATGTCCTGCTAAGTCC -3'
(R):5'- CACTCACTTTGCTGCCATGG -3'

Sequencing Primer
(F):5'- TTCCATCAAGATCAGTACCTGGG -3'
(R):5'- CATGGCAAGGGGGTGCTG -3'

Posted On

2022-03-25