Mutagenetix > Incidental Mutation

Incidental Mutation 'R3025:Scaf4'

265809

Institutional Source

Beutler Lab

Gene Symbol

Scaf4

Ensembl Gene

ENSMUSG00000022983

Gene Name

SR-related CTD-associated factor 4

Synonyms

Sra4, Srsf15, Sfrs15

MMRRC Submission

040541-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R3025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90022568-90081391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90048826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 329 (H329Q)

Ref Sequence

ENSEMBL: ENSMUSP00000156174 (fasta)

Gene Model

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

AlphaFold

Q7TSH6

Predicted Effect

unknown
Transcript: ENSMUST00000039280
AA Change: H329Q

SMART Domains

Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: H329Q

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: H329Q

SMART Domains

Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: H329Q

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

unknown
Transcript: ENSMUST00000232371
AA Change: H329Q

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,864,919 (GRCm39)		probably null	Het
Akap6	A	G	12: 53,186,926 (GRCm39)	T1447A	probably benign	Het
Atp13a2	C	T	4: 140,721,659 (GRCm39)	R250C	probably damaging	Het
Cacna1a	T	A	8: 85,306,854 (GRCm39)		probably null	Het
Chd6	GATCAT	GAT	2: 160,808,472 (GRCm39)		probably benign	Het
Cptp	T	C	4: 155,951,678 (GRCm39)	E5G	possibly damaging	Het
Dnajc16	C	A	4: 141,501,922 (GRCm39)	V303F	probably benign	Het
Gm10842	T	C	11: 105,037,902 (GRCm39)	S62P	unknown	Het
Gm17509	T	C	13: 117,357,112 (GRCm39)		probably benign	Het
Homer1	C	T	13: 93,538,582 (GRCm39)	Q142*	probably null	Het
Kcnb2	C	A	1: 15,781,059 (GRCm39)	Q644K	possibly damaging	Het
Map3k19	T	C	1: 127,766,290 (GRCm39)		probably null	Het
Msh4	T	A	3: 153,569,128 (GRCm39)	H621L	probably damaging	Het
Ogfod1	A	T	8: 94,789,680 (GRCm39)	E460D	probably damaging	Het
Or6c65	T	A	10: 129,603,542 (GRCm39)	F59Y	probably damaging	Het
Or8k41	A	T	2: 86,314,083 (GRCm39)	M1K	probably null	Het
Rp1	G	A	1: 4,422,898 (GRCm39)	R61W	probably damaging	Het
Sec61a1	A	T	6: 88,489,202 (GRCm39)	D166E	probably damaging	Het
Tars2	C	T	3: 95,654,952 (GRCm39)	R63H	possibly damaging	Het
Vmn1r57	A	T	7: 5,223,714 (GRCm39)	K80*	probably null	Het
Vmn2r106	A	G	17: 20,499,147 (GRCm39)	W255R	probably benign	Het
Wdr49	C	G	3: 75,240,663 (GRCm39)	C402S	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
R3236:Scaf4	UTSW	16	90,057,105 (GRCm39)	missense	unknown
R4207:Scaf4	UTSW	16	90,057,103 (GRCm39)	missense	unknown
R4584:Scaf4	UTSW	16	90,026,403 (GRCm39)	unclassified	probably benign
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'- AACAGCAGTGCTCAGAAGTAC -3'
(R):5'- TGGGAATAGTGTCCTTATCAGAGTTAG -3'

Sequencing Primer
(F):5'- AATGCTTTATGCCCCAGTGTAG -3'
(R):5'- AATTTTAAAATGTGGCATTTGTGTTG -3'

Posted On

2015-02-05