Mutagenetix > Incidental Mutation

Incidental Mutation 'R4584:Scaf4'

343960

Institutional Source

Beutler Lab

Gene Symbol

Scaf4

Ensembl Gene

ENSMUSG00000022983

Gene Name

SR-related CTD-associated factor 4

Synonyms

Sra4, Srsf15, Sfrs15

MMRRC Submission

041805-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R4584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90022568-90081391 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 90026403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023707] [ENSMUST00000039280] [ENSMUST00000163419] [ENSMUST00000232371]

AlphaFold

Q7TSH6

PDB Structure

Mouse SOD1 [X-RAY DIFFRACTION]
Human-mouse SOD1 chimera [X-RAY DIFFRACTION]
Mouse-human sod1 chimera [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000023707

SMART Domains

Protein: ENSMUSP00000023707
Gene: ENSMUSG00000022982

Domain	Start	End	E-Value	Type
Pfam:Sod_Cu	9	150	2.2e-51	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000039280
AA Change: E1138G

SMART Domains

Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: E1138G

Domain	Start	End	E-Value	Type
RPR	6	136	7.8e-48	SMART
low complexity region	190	214	N/A	INTRINSIC
low complexity region	272	313	N/A	INTRINSIC
low complexity region	360	389	N/A	INTRINSIC
low complexity region	390	418	N/A	INTRINSIC
low complexity region	420	448	N/A	INTRINSIC
low complexity region	496	558	N/A	INTRINSIC
RRM	574	643	7.47e-14	SMART
low complexity region	719	757	N/A	INTRINSIC
low complexity region	762	829	N/A	INTRINSIC
low complexity region	871	886	N/A	INTRINSIC
low complexity region	937	980	N/A	INTRINSIC
low complexity region	983	997	N/A	INTRINSIC
low complexity region	1006	1046	N/A	INTRINSIC
low complexity region	1082	1096	N/A	INTRINSIC
low complexity region	1111	1145	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000163419
AA Change: E1112G

SMART Domains

Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: E1112G

Domain	Start	End	E-Value	Type
RPR	6	136	7.8e-48	SMART
low complexity region	190	214	N/A	INTRINSIC
low complexity region	272	313	N/A	INTRINSIC
low complexity region	360	389	N/A	INTRINSIC
low complexity region	390	418	N/A	INTRINSIC
low complexity region	420	448	N/A	INTRINSIC
low complexity region	496	554	N/A	INTRINSIC
RRM	570	639	7.47e-14	SMART
low complexity region	715	753	N/A	INTRINSIC
low complexity region	758	825	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	911	954	N/A	INTRINSIC
low complexity region	957	971	N/A	INTRINSIC
low complexity region	980	1020	N/A	INTRINSIC
low complexity region	1056	1070	N/A	INTRINSIC
low complexity region	1085	1119	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232000

Predicted Effect

unknown
Transcript: ENSMUST00000232371
AA Change: E1113G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232505

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (86/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,886,756 (GRCm39)	N343D	probably damaging	Het
9530002B09Rik	T	A	4: 122,594,979 (GRCm39)	D78E	possibly damaging	Het
A2m	C	A	6: 121,634,365 (GRCm39)	D632E	probably benign	Het
Alpk2	A	G	18: 65,440,035 (GRCm39)	S453P	probably damaging	Het
Birc2	A	T	9: 7,833,675 (GRCm39)	F269I	probably damaging	Het
Ccdc66	G	A	14: 27,222,468 (GRCm39)	P92S	probably benign	Het
Cdc34	T	A	10: 79,523,869 (GRCm39)	D108E	possibly damaging	Het
Cdk5rap2	A	C	4: 70,184,997 (GRCm39)	V1151G	probably damaging	Het
Cemip	T	C	7: 83,607,747 (GRCm39)	K753R	probably damaging	Het
Cep295	A	T	9: 15,246,095 (GRCm39)	L787Q	possibly damaging	Het
Cideb	T	C	14: 55,995,727 (GRCm39)	N8S	probably benign	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapl1	C	A	2: 59,335,086 (GRCm39)	T80K	possibly damaging	Het
Ddx6	T	C	9: 44,535,784 (GRCm39)	V171A	probably damaging	Het
Dnah12	C	A	14: 26,494,551 (GRCm39)	T34K	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Ep400	T	A	5: 110,881,763 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,057,758 (GRCm39)	Y22*	probably null	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2-T15	A	T	17: 36,368,559 (GRCm39)	M123K	probably damaging	Het
Ighv1-66	T	A	12: 115,557,016 (GRCm39)	Q22L	possibly damaging	Het
Igkv4-80	T	C	6: 68,993,720 (GRCm39)	Y57C	probably damaging	Het
Itpk1	G	A	12: 102,536,416 (GRCm39)	A410V	possibly damaging	Het
Itsn1	T	A	16: 91,617,471 (GRCm39)		probably benign	Het
Kcnk3	G	T	5: 30,745,730 (GRCm39)	A24S	probably damaging	Het
Kif20a	A	G	18: 34,765,664 (GRCm39)	Y887C	probably damaging	Het
Klf13	T	C	7: 63,587,718 (GRCm39)	T193A	possibly damaging	Het
Klhl9	G	T	4: 88,640,144 (GRCm39)	H32Q	probably damaging	Het
Kndc1	C	G	7: 139,481,159 (GRCm39)	P82A	probably damaging	Het
Llgl1	T	A	11: 60,602,908 (GRCm39)	L861Q	probably damaging	Het
Lpcat2	A	G	8: 93,615,999 (GRCm39)	E305G	probably damaging	Het
Mib2	C	A	4: 155,741,744 (GRCm39)	A293S	probably damaging	Het
Mtfr1	A	G	3: 19,269,766 (GRCm39)	E138G	probably damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ninj1	T	A	13: 49,347,442 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,725,104 (GRCm39)	V54E	possibly damaging	Het
Nlrc5	A	C	8: 95,203,903 (GRCm39)	I668L	probably damaging	Het
Npy6r	T	A	18: 44,409,262 (GRCm39)	C228S	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Nup107	T	C	10: 117,602,273 (GRCm39)	I513M	probably benign	Het
Oit3	T	C	10: 59,261,284 (GRCm39)	D461G	probably damaging	Het
Or2ab1	T	A	11: 58,488,830 (GRCm39)	F205I	probably benign	Het
Paxbp1	T	C	16: 90,831,011 (GRCm39)	D455G	probably damaging	Het
Pcdh7	A	T	5: 57,878,625 (GRCm39)	T727S	probably damaging	Het
Pex14	G	A	4: 149,055,053 (GRCm39)	A113V	probably damaging	Het
Phc3	A	G	3: 31,020,031 (GRCm39)	V23A	possibly damaging	Het
Plec	T	C	15: 76,115,406 (GRCm39)	D56G	possibly damaging	Het
Plekha7	C	A	7: 115,836,768 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,422,140 (GRCm39)	E885G	probably damaging	Het
Prss1l	T	C	6: 41,373,701 (GRCm39)	L188P	probably benign	Het
Psd2	A	G	18: 36,145,881 (GRCm39)	T762A	probably benign	Het
Psme4	T	A	11: 30,784,318 (GRCm39)	H964Q	probably damaging	Het
Rbak	C	T	5: 143,161,878 (GRCm39)	V51I	probably benign	Het
Rbfa	A	G	18: 80,243,721 (GRCm39)	L15P	probably benign	Het
Ren1	T	C	1: 133,282,546 (GRCm39)	Y84H	probably damaging	Het
Rps6ka5	A	T	12: 100,547,577 (GRCm39)	I311N	probably damaging	Het
Samd14	T	A	11: 94,912,361 (GRCm39)		probably null	Het
Serpina12	A	T	12: 104,004,611 (GRCm39)	L7Q	unknown	Het
Serpinb9d	A	T	13: 33,384,599 (GRCm39)	E192V	probably damaging	Het
Slc22a29	A	T	19: 8,146,655 (GRCm39)	F382L	probably benign	Het
Snta1	T	A	2: 154,220,035 (GRCm39)	D375V	probably benign	Het
Stat5b	T	A	11: 100,678,064 (GRCm39)	Y683F	probably damaging	Het
Strip1	A	T	3: 107,531,819 (GRCm39)	Y257N	probably benign	Het
Sugp2	A	G	8: 70,704,548 (GRCm39)	H695R	probably benign	Het
Svep1	T	A	4: 58,068,526 (GRCm39)	R3087*	probably null	Het
Syngr2	T	C	11: 117,703,947 (GRCm39)	V138A	probably damaging	Het
Thra	T	C	11: 98,655,310 (GRCm39)	F397L	probably benign	Het
Tmem45b	T	A	9: 31,339,951 (GRCm39)	I149F	probably damaging	Het
Tmprss11f	C	T	5: 86,687,553 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,183,995 (GRCm39)	T1433I	probably benign	Het
Vmn2r109	A	T	17: 20,774,820 (GRCm39)	Y178*	probably null	Het
Vmn2r84	T	G	10: 130,226,582 (GRCm39)	M419L	probably benign	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp268	T	A	4: 145,343,747 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,995,145 (GRCm39)		probably benign	Het
Zfp568	T	G	7: 29,697,617 (GRCm39)	F100V	probably benign	Het
Zfp667	T	A	7: 6,293,624 (GRCm39)	D41E	possibly damaging	Het

Other mutations in Scaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Scaf4	APN	16	90,044,169 (GRCm39)	missense	unknown
IGL00536:Scaf4	APN	16	90,054,250 (GRCm39)	missense	unknown
IGL01122:Scaf4	APN	16	90,045,518 (GRCm39)	missense	unknown
IGL02015:Scaf4	APN	16	90,055,734 (GRCm39)	missense	unknown
IGL02074:Scaf4	APN	16	90,039,808 (GRCm39)	missense	unknown
IGL02555:Scaf4	APN	16	90,047,193 (GRCm39)	missense	unknown
IGL02735:Scaf4	APN	16	90,042,403 (GRCm39)	missense	unknown
FR4304:Scaf4	UTSW	16	90,026,742 (GRCm39)	small deletion	probably benign
FR4589:Scaf4	UTSW	16	90,026,742 (GRCm39)	small deletion	probably benign
R0217:Scaf4	UTSW	16	90,039,570 (GRCm39)	missense	probably damaging	0.99
R0410:Scaf4	UTSW	16	90,057,058 (GRCm39)	missense	unknown
R0681:Scaf4	UTSW	16	90,046,582 (GRCm39)	missense	unknown
R1099:Scaf4	UTSW	16	90,059,986 (GRCm39)	missense	unknown
R1510:Scaf4	UTSW	16	90,042,282 (GRCm39)	missense	unknown
R1694:Scaf4	UTSW	16	90,026,745 (GRCm39)	small deletion	probably benign
R2077:Scaf4	UTSW	16	90,049,323 (GRCm39)	missense	unknown
R2087:Scaf4	UTSW	16	90,049,313 (GRCm39)	missense	unknown
R2182:Scaf4	UTSW	16	90,027,028 (GRCm39)	missense	probably benign	0.15
R2698:Scaf4	UTSW	16	90,041,244 (GRCm39)	missense	unknown
R2925:Scaf4	UTSW	16	90,047,177 (GRCm39)	missense	unknown
R3025:Scaf4	UTSW	16	90,048,826 (GRCm39)	missense	unknown
R3236:Scaf4	UTSW	16	90,057,105 (GRCm39)	missense	unknown
R4207:Scaf4	UTSW	16	90,057,103 (GRCm39)	missense	unknown
R4735:Scaf4	UTSW	16	90,049,320 (GRCm39)	missense	unknown
R4835:Scaf4	UTSW	16	90,047,195 (GRCm39)	missense	unknown
R4969:Scaf4	UTSW	16	90,048,831 (GRCm39)	nonsense	probably null
R5174:Scaf4	UTSW	16	90,044,062 (GRCm39)	missense	unknown
R5568:Scaf4	UTSW	16	90,026,745 (GRCm39)	small deletion	probably benign
R5615:Scaf4	UTSW	16	90,048,848 (GRCm39)	missense	unknown
R5638:Scaf4	UTSW	16	90,041,198 (GRCm39)	missense	unknown
R6364:Scaf4	UTSW	16	90,057,136 (GRCm39)	nonsense	probably null
R6470:Scaf4	UTSW	16	90,026,526 (GRCm39)	nonsense	probably null
R7049:Scaf4	UTSW	16	90,057,075 (GRCm39)	missense	unknown
R7198:Scaf4	UTSW	16	90,049,318 (GRCm39)	missense	unknown
R7446:Scaf4	UTSW	16	90,055,658 (GRCm39)	missense	unknown
R7501:Scaf4	UTSW	16	90,026,964 (GRCm39)	missense	unknown
R7580:Scaf4	UTSW	16	90,026,740 (GRCm39)	nonsense	probably null
R7631:Scaf4	UTSW	16	90,026,445 (GRCm39)	missense	unknown
R8380:Scaf4	UTSW	16	90,057,133 (GRCm39)	missense	unknown
R8963:Scaf4	UTSW	16	90,026,745 (GRCm39)	small deletion	probably benign
R9149:Scaf4	UTSW	16	90,027,054 (GRCm39)	missense	probably damaging	0.99
R9468:Scaf4	UTSW	16	90,026,287 (GRCm39)	missense	unknown
R9696:Scaf4	UTSW	16	90,044,122 (GRCm39)	missense	unknown
R9798:Scaf4	UTSW	16	90,045,533 (GRCm39)	missense	unknown
X0013:Scaf4	UTSW	16	90,049,179 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACATCCAGTCTCTAGCGAGG -3'
(R):5'- GGTATGGGAGCCGTAATGAC -3'

Sequencing Primer
(F):5'- TGCTGAGCCAGGATCCTTC -3'
(R):5'- TGACGATAGAGATAATAGTAACCGTG -3'

Posted On

2015-09-24