Mutagenetix > Incidental Mutation

Incidental Mutation 'R2087:Scaf4'

231551

Institutional Source

Beutler Lab

Gene Symbol

Scaf4

Ensembl Gene

ENSMUSG00000022983

Gene Name

SR-related CTD-associated factor 4

Synonyms

Sra4, Srsf15, Sfrs15

MMRRC Submission

040092-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R2087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90022568-90081391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90049313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 258 (D258G)

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: D258G

SMART Domains

Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: D258G

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: D258G

SMART Domains

Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: D258G

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: ENSMUST00000231572

Predicted Effect

unknown
Transcript: ENSMUST00000232371
AA Change: D258G

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (57/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	A	19: 24,042,364 (GRCm39)		noncoding transcript	Het
Adamts8	G	A	9: 30,873,408 (GRCm39)	R871Q	probably damaging	Het
Ank1	T	C	8: 23,583,827 (GRCm39)	L310S	probably damaging	Het
Atp2a3	A	G	11: 72,871,274 (GRCm39)	T592A	probably damaging	Het
Bpifb6	A	G	2: 153,747,998 (GRCm39)	D219G	possibly damaging	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccdc14	T	C	16: 34,516,015 (GRCm39)		probably null	Het
Ces1c	A	C	8: 93,834,230 (GRCm39)	N353K	probably benign	Het
Chrna6	T	A	8: 27,897,155 (GRCm39)	M241L	probably benign	Het
Chtf8	T	A	8: 107,612,568 (GRCm39)	R124*	probably null	Het
Cpt1b	A	G	15: 89,306,411 (GRCm39)	V296A	probably benign	Het
Cryl1	G	A	14: 57,513,402 (GRCm39)	S273L	possibly damaging	Het
Ctps1	T	C	4: 120,420,012 (GRCm39)	D134G	probably benign	Het
Cyp4f18	T	C	8: 72,754,832 (GRCm39)	M138V	probably benign	Het
Dnajb12	A	G	10: 59,726,667 (GRCm39)	K107R	possibly damaging	Het
Epha1	C	T	6: 42,340,502 (GRCm39)	D590N	probably benign	Het
Fndc3b	A	G	3: 27,505,703 (GRCm39)	V855A	probably benign	Het
Ganc	A	G	2: 120,287,738 (GRCm39)	Y822C	probably damaging	Het
Hook2	A	G	8: 85,729,320 (GRCm39)	D622G	probably damaging	Het
Kcnj8	T	A	6: 142,511,422 (GRCm39)	N395I	probably benign	Het
Kdm4b	T	C	17: 56,696,564 (GRCm39)	S427P	possibly damaging	Het
Krt12	A	G	11: 99,309,459 (GRCm39)	F267S	probably damaging	Het
Lrrn2	T	G	1: 132,865,489 (GRCm39)	F185V	probably damaging	Het
Mecom	A	G	3: 30,006,963 (GRCm39)	S764P	probably benign	Het
Mfsd14b	C	G	13: 65,215,796 (GRCm39)	G386R	probably damaging	Het
Mrm2	A	G	5: 140,314,155 (GRCm39)	S227P	probably damaging	Het
Mug1	A	G	6: 121,833,250 (GRCm39)	N285S	probably benign	Het
Nalcn	T	C	14: 123,518,557 (GRCm39)	T1661A	probably benign	Het
Ncoa6	G	A	2: 155,248,079 (GRCm39)	R1742*	probably null	Het
Nln	T	A	13: 104,173,877 (GRCm39)	H548L	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or2r3	A	T	6: 42,448,985 (GRCm39)	N42K	probably damaging	Het
Or56b34	T	A	7: 104,937,393 (GRCm39)	I31N	probably benign	Het
Pgm5	T	C	19: 24,710,927 (GRCm39)	Y425C	probably damaging	Het
Pld2	A	G	11: 70,433,786 (GRCm39)	D242G	probably damaging	Het
Plekhm1	A	G	11: 103,287,851 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,124,881 (GRCm39)		probably benign	Het
Pyroxd2	G	T	19: 42,722,209 (GRCm39)	L415I	probably benign	Het
Rapgef6	A	G	11: 54,522,075 (GRCm39)	T291A	probably damaging	Het
Rb1	A	G	14: 73,517,692 (GRCm39)	I238T	probably benign	Het
Rp1	G	A	1: 4,418,575 (GRCm39)	H846Y	probably damaging	Het
Rpgrip1	T	A	14: 52,374,079 (GRCm39)		probably null	Het
Ska1	A	T	18: 74,339,920 (GRCm39)	C9S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc43a1	G	A	2: 84,680,175 (GRCm39)	R107Q	probably damaging	Het
Slc44a3	T	A	3: 121,319,319 (GRCm39)	N141Y	probably damaging	Het
Slit1	A	T	19: 41,625,922 (GRCm39)	D613E	probably benign	Het
Spata22	A	T	11: 73,231,079 (GRCm39)	Y111F	probably benign	Het
Tchh	C	A	3: 93,351,225 (GRCm39)	R222S	unknown	Het
Tekt3	A	G	11: 62,985,523 (GRCm39)	D443G	possibly damaging	Het
Tns2	A	T	15: 102,015,554 (GRCm39)	Q144L	possibly damaging	Het
Troap	T	C	15: 98,976,698 (GRCm39)	V274A	possibly damaging	Het
Ugt1a8	A	G	1: 88,015,995 (GRCm39)	Y136C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,458 (GRCm39)	M604L	probably benign	Het
Vps13b	T	A	15: 35,597,639 (GRCm39)	W1060R	probably damaging	Het
Wdfy3	A	G	5: 102,042,926 (GRCm39)	S1942P	probably damaging	Het
Wdr90	G	A	17: 26,065,577 (GRCm39)	T1596I	probably damaging	Het
Zc3h4	A	G	7: 16,150,865 (GRCm39)	E69G	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
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
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'- ACTCACAATGGGGTCTGTGG -3'
(R):5'- CACTGCTTTCATCATTGGAAAAGG -3'

Sequencing Primer
(F):5'- CACAATGGGGTCTGTGGAGGAG -3'
(R):5'- CGTGCACTTAGTCAAAATTGCCTG -3'

Posted On

2014-09-18