Mutagenetix > Incidental Mutation

Incidental Mutation 'R6834:Sf1'

534535

Institutional Source

Beutler Lab

Gene Symbol

Sf1

Ensembl Gene

ENSMUSG00000024949

Gene Name

splicing factor 1

Synonyms

WBP4, CW17R, Zfp162, MZFM

MMRRC Submission

044943-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6834 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6413952-6428060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6424127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 386 (G386C)

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: G386C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949
AA Change: G386C

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: G386C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949
AA Change: G386C

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: G386C

SMART Domains

Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949
AA Change: G386C

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: G30C

SMART Domains

Protein: ENSMUSP00000114788
Gene: ENSMUSG00000024949
AA Change: G30C

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: G74C

SMART Domains

Protein: ENSMUSP00000117172
Gene: ENSMUSG00000024949
AA Change: G74C

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: G386C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949
AA Change: G386C

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

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

Meta Mutation Damage Score

0.4121

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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
Abca13	T	A	11: 9,225,110 (GRCm39)	W530R	possibly damaging	Het
Aco1	A	G	4: 40,164,747 (GRCm39)	K79R	probably benign	Het
Adam15	C	T	3: 89,247,390 (GRCm39)	G426R	probably damaging	Het
Angptl1	A	T	1: 156,672,263 (GRCm39)	I30L	probably benign	Het
Ankrd35	A	G	3: 96,590,599 (GRCm39)	E295G	possibly damaging	Het
Ap5m1	T	A	14: 49,311,194 (GRCm39)	V88E	probably damaging	Het
Astn1	A	T	1: 158,491,692 (GRCm39)	Q47L	probably benign	Het
Atf6b	T	C	17: 34,868,131 (GRCm39)	S135P	probably damaging	Het
AU018091	T	A	7: 3,207,795 (GRCm39)	I589F	probably benign	Het
Cdin1	T	C	2: 115,505,265 (GRCm39)	S179P	probably benign	Het
Cenpf	T	C	1: 189,391,643 (GRCm39)	K730E	probably damaging	Het
Chrna6	C	T	8: 27,898,338 (GRCm39)		probably null	Het
Dmxl1	A	T	18: 50,088,890 (GRCm39)	I2790F	probably damaging	Het
Ell	A	G	8: 71,031,784 (GRCm39)	D116G	probably damaging	Het
Eml5	A	T	12: 98,853,283 (GRCm39)	H105Q	probably damaging	Het
Epb41l2	T	A	10: 25,369,502 (GRCm39)	V23D	possibly damaging	Het
Gatad2b	T	A	3: 90,255,950 (GRCm39)	S139T	probably benign	Het
Glb1l	A	G	1: 75,178,397 (GRCm39)	V347A	possibly damaging	Het
Gm4846	A	T	1: 166,322,147 (GRCm39)	I140N	possibly damaging	Het
Gng11	A	G	6: 4,008,068 (GRCm39)	I44V	probably benign	Het
Hsd17b8	T	C	17: 34,246,191 (GRCm39)	S161G	probably damaging	Het
Hsp90ab1	T	C	17: 45,881,393 (GRCm39)	I250V	probably benign	Het
Igkv4-79	A	G	6: 69,020,256 (GRCm39)	S20P	probably damaging	Het
Il11ra1	A	G	4: 41,765,454 (GRCm39)	H183R	probably benign	Het
Kcnip3	A	T	2: 127,300,278 (GRCm39)	F252I	probably damaging	Het
Klk12	T	C	7: 43,422,772 (GRCm39)	V233A	possibly damaging	Het
Klk1b11	T	C	7: 43,428,336 (GRCm39)	I242T	probably damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lmod2	A	T	6: 24,597,782 (GRCm39)		probably benign	Het
Loxhd1	T	A	18: 77,529,222 (GRCm39)	V1089E	probably damaging	Het
Lrba	C	T	3: 86,257,593 (GRCm39)	P1286S	probably benign	Het
Lrrc41	T	C	4: 115,953,726 (GRCm39)	V804A	possibly damaging	Het
Lrrc8a	T	A	2: 30,145,659 (GRCm39)	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,880,320 (GRCm39)	M504K	possibly damaging	Het
Med24	A	T	11: 98,595,850 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,385 (GRCm39)	S121G	probably damaging	Het
Mvb12a	G	A	8: 71,997,896 (GRCm39)	M103I	probably benign	Het
Or4k15c	A	G	14: 50,321,685 (GRCm39)	V151A	probably damaging	Het
Or4k2	T	C	14: 50,423,940 (GRCm39)	I245V	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacsin3	T	A	2: 91,093,180 (GRCm39)	M224K	probably damaging	Het
Pam	T	A	1: 97,765,717 (GRCm39)	I771F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pcdhgb8	G	T	18: 37,895,142 (GRCm39)	A71S	probably benign	Het
Poc1b	C	T	10: 99,028,666 (GRCm39)	A336V	probably benign	Het
Prss39	G	T	1: 34,537,697 (GRCm39)	V54F	possibly damaging	Het
Ptar1	A	G	19: 23,695,288 (GRCm39)	T252A	probably benign	Het
Ptprz1	A	G	6: 22,999,632 (GRCm39)	D574G	probably benign	Het
Rnf40	G	A	7: 127,195,578 (GRCm39)	D635N	probably benign	Het
Scn1a	T	A	2: 66,158,086 (GRCm39)	Q429L	probably damaging	Het
Shank2	A	T	7: 143,963,631 (GRCm39)	Y623F	probably damaging	Het
Slc9a5	G	T	8: 106,091,316 (GRCm39)	A699S	probably benign	Het
Sox9	A	T	11: 112,674,826 (GRCm39)	Q208L	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Szt2	A	G	4: 118,245,522 (GRCm39)	S1097P	probably benign	Het
Tmc1	C	A	19: 20,772,974 (GRCm39)	E676*	probably null	Het
Ubr3	T	C	2: 69,830,825 (GRCm39)	I158T	possibly damaging	Het
Ush2a	T	C	1: 188,088,989 (GRCm39)	Y315H	probably damaging	Het
Vmn1r85	T	C	7: 12,818,571 (GRCm39)	D191G	probably damaging	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zfp358	A	G	8: 3,545,613 (GRCm39)	D92G	probably benign	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	Het
Zpld2	A	C	4: 133,920,476 (GRCm39)	V563G	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
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
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'- CCTCTGTAGGGTCACTTTGG -3'
(R):5'- TACTTACCCATTGGAGGAGGG -3'

Sequencing Primer
(F):5'- AGGGTCACTTTGGGAGGACC -3'
(R):5'- CCATTGGAGGAGGGCCATG -3'

Posted On

2018-09-12