Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4304:Scaf4'

511058

Institutional Source

Beutler Lab

Gene Symbol

Scaf4

Ensembl Gene

ENSMUSG00000022983

Gene Name

SR-related CTD-associated factor 4

Synonyms

Sra4, Srsf15, Sfrs15

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.630) question?

Stock #

FR4304 ()

Quality Score

137.457

Status

Not validated

Chromosome

Chromosomal Location

90022568-90081391 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TGCGGC to TGC at 90026742 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156174 (fasta)

Gene Model

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

AlphaFold

Q7TSH6

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

probably benign
Transcript: ENSMUST00000039280

SMART Domains

Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983

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

probably benign
Transcript: ENSMUST00000163419

SMART Domains

Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983

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

probably benign
Transcript: ENSMUST00000232371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232505

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 96.4%

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: 137 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,634,883 (GRCm39)		probably benign	Homo
1700001K19Rik	TTC	TTCGTC	12: 110,634,884 (GRCm39)		probably benign	Homo
4930433I11Rik	ACCTC	AC	7: 40,642,480 (GRCm39)		probably benign	Het
4930447C04Rik	AAGT	A	12: 72,928,061 (GRCm39)		probably benign	Homo
Acbd4	CAG	CAGACTAG	11: 102,994,931 (GRCm39)		probably null	Homo
Ahdc1	CT	CTCTT	4: 132,790,070 (GRCm39)		probably benign	Homo
Alpk3	TCT	TCTGCT	7: 80,727,510 (GRCm39)		probably benign	Het
Anapc4	C	T	5: 53,021,868 (GRCm39)	T650M	probably damaging	Homo
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,977 (GRCm39)		probably benign	Het
Ankrd35	TAGC	TAGCAGC	3: 96,591,163 (GRCm39)		probably benign	Homo
Apc	GCCAATAAA	GCCAATAAAACCAATAAA	18: 34,415,050 (GRCm39)		probably benign	Het
Apol6	TTGT	TTGTCTGT	15: 76,935,636 (GRCm39)		probably null	Het
Arhgap30	TGGCCC	TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC	1: 171,232,736 (GRCm39)		probably benign	Het
Arpc1b	GCC	GCCTGTCC	5: 145,063,601 (GRCm39)		probably null	Het
Blm	CT	CTACGT	7: 80,113,521 (GRCm39)		probably null	Homo
Blm	TCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCC	7: 80,162,667 (GRCm39)		probably benign	Het
Btnl10	GA	GAATA	11: 58,814,756 (GRCm39)		probably benign	Homo
Cacna1f	AGG	AGGCGG	X: 7,486,300 (GRCm39)		probably benign	Het
Calhm3	CG	CGG	19: 47,140,335 (GRCm39)		probably null	Homo
Catsper2	C	CTTTTACTTTTTA	2: 121,228,023 (GRCm39)		probably null	Homo
Catsper2	CAT	CATTAT	2: 121,228,263 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Ccdc15	AC	ACTTTCC	9: 37,226,453 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,432,117 (GRCm39)	D1792G	possibly damaging	Het
Ccdc170	CCA	CCATCA	10: 4,511,021 (GRCm39)		probably benign	Het
Ccdc73	TAAG	T	2: 104,822,185 (GRCm39)		probably benign	Homo
Ccdc85c	GCC	GCCCCC	12: 108,240,871 (GRCm39)		probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cd80	AGA	AGAGGA	16: 38,306,677 (GRCm39)		probably benign	Homo
Cep89	GACT	G	7: 35,109,066 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,500,217 (GRCm39)	D21G	possibly damaging	Homo
Cgref1	T	TCTA	5: 31,091,124 (GRCm39)		probably benign	Homo
Chd4	GCC	GCCACTCCC	6: 125,099,107 (GRCm39)		probably benign	Het
Cnpy3	TCC	TCCCCC	17: 47,047,669 (GRCm39)		probably benign	Het
Cnpy3	TCC	TCCACC	17: 47,047,672 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,407 (GRCm39)		probably benign	Het
Cntnap1	CCCCAG	CCCCAGACCCAG	11: 101,080,415 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Cpne1	AGA	AGAGAGA	2: 155,913,945 (GRCm39)		probably null	Homo
Cttnbp2	ATTGCTG	ATTGCTGTTGCTG	6: 18,367,457 (GRCm39)		probably benign	Het
Dhx37	CTGG	C	5: 125,504,594 (GRCm39)		probably benign	Het
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,629,014 (GRCm39)		probably benign	Homo
Dnaaf9	TCC	TCCCCC	2: 130,612,668 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dst	C	A	1: 34,240,045 (GRCm39)	S1798Y	probably damaging	Het
Eif3a	TA	TATTTCA	19: 60,763,728 (GRCm39)		probably benign	Homo
Ermn	TTC	TTCCTC	2: 57,938,090 (GRCm39)		probably benign	Het
Ermn	CTT	CTTGTT	2: 57,938,098 (GRCm39)		probably benign	Het
Fbxo43	TGTGCC	TGTGCCAGTGCC	15: 36,152,243 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTCCCTGT	15: 36,152,246 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,240 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,356,119 (GRCm39)		probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,545,633 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 71,313,648 (GRCm39)		probably benign	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm4340	CAG	CAGAAG	10: 104,031,933 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,943 (GRCm39)		probably benign	Het
Gm5114	T	C	7: 39,060,529 (GRCm39)	R107G	probably benign	Het
Gm5114	A	C	7: 39,060,530 (GRCm39)	H106Q	probably benign	Het
H1f6	GAGAA	GA	13: 23,879,903 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T10	TGTTTCCCACTG	T	17: 36,431,173 (GRCm39)		probably null	Het
Ifi203	C	T	1: 173,755,894 (GRCm39)		probably benign	Het
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Il17rd	CGG	CGGTGG	14: 26,804,637 (GRCm39)		probably benign	Het
Il2	AGTGG	AGTGGGGCTTGAGGTGG	3: 37,179,975 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Ipo9	CCT	CCTACT	1: 135,314,017 (GRCm39)		probably null	Het
Isg20l2	AAG	AAGCAG	3: 87,839,019 (GRCm39)		probably benign	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,788 (GRCm39)		probably benign	Het
Kmt2c	TGCTGCTG	TGCTGCTGCTGCTG	5: 25,520,764 (GRCm39)		probably benign	Homo
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	CCTCCT	CCTCCTACTCCT	11: 99,280,100 (GRCm39)		probably benign	Het
Las1l	GAG	GAGCAG	X: 94,984,426 (GRCm39)		probably benign	Het
Las1l	AGG	AGGCGG	X: 94,984,427 (GRCm39)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 181,339,372 (GRCm39)		probably benign	Het
Lrch1	A	T	14: 75,057,005 (GRCm39)	C241S	possibly damaging	Het
Lrit3	G	GCTT	3: 129,582,468 (GRCm39)		probably benign	Het
Maml2	GCAGCAGCAACAGCAGCA	GCAGCAGCA	9: 13,532,755 (GRCm39)		probably benign	Homo
Mast4	T	TTTC	13: 102,871,370 (GRCm39)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,183,403 (GRCm39)		probably benign	Het
Muc21	T	G	17: 35,933,013 (GRCm39)		probably benign	Homo
Noc2l	TGC	TGCAGC	4: 156,324,553 (GRCm39)		probably benign	Het
Nrg3	G	GACATTT	14: 38,119,230 (GRCm39)		probably benign	Homo
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Homo
Patl2	GCT	GCTTCT	2: 121,956,616 (GRCm39)		probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,006,685 (GRCm39)		probably null	Homo
Pik3c2g	AG	AGAGGG	6: 139,612,654 (GRCm39)		probably null	Homo
Plekhs1	T	TTCAGACCTCCCC	19: 56,468,290 (GRCm39)		probably benign	Het
Prkd3	G	T	17: 79,283,249 (GRCm39)		probably null	Homo
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Het
Prr13	TCC	TCCCCC	15: 102,370,612 (GRCm39)		probably benign	Homo
Prrc2b	G	A	2: 32,111,179 (GRCm39)	A1852T	probably damaging	Homo
Ptms	CTT	CTTTTT	6: 124,891,421 (GRCm39)		probably benign	Homo
Rtl1	TTCCTCTTCCTCCTC	TTCCTC	12: 109,557,632 (GRCm39)		probably benign	Homo
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Six3	CGG	CGGTGG	17: 85,928,796 (GRCm39)		probably benign	Het
Sry	GTG	GTGCTG	Y: 2,662,837 (GRCm39)		probably benign	Homo
Stard8	GGAAGA	GGAAGAAGA	X: 98,110,111 (GRCm39)		probably benign	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,635,068 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGTAGCAG	3: 54,635,085 (GRCm39)		probably null	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Sytl1	CTCT	C	4: 132,984,304 (GRCm39)		probably benign	Homo
Tcof1	AGC	AGCGGC	18: 60,968,814 (GRCm39)		probably benign	Het
Tdpoz2	T	TCA	3: 93,558,922 (GRCm39)		probably null	Homo
Tert	GCC	GCCAAGGGTTCC	13: 73,796,421 (GRCm39)		probably benign	Homo
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Ticrr	ATT	ATTTTT	7: 79,344,059 (GRCm39)		probably benign	Homo
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,906 (GRCm39)		probably null	Homo
Tnfrsf9	T	TGCC	4: 151,018,852 (GRCm39)		probably benign	Homo
Tob1	GCA	GCAACA	11: 94,105,290 (GRCm39)		probably benign	Het
Tob1	CA	CAGTA	11: 94,105,303 (GRCm39)		probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Homo
Triobp	TCGTCG	TCGTCGTCG	15: 78,877,587 (GRCm39)		probably benign	Homo
Tsbp1	A	AGCC	17: 34,679,029 (GRCm39)		probably benign	Het
Tsbp1	GC	GCATC	17: 34,679,051 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGGGG	6: 115,537,030 (GRCm39)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,197,782 (GRCm39)		probably benign	Het
Ubtf	CTCGTCGTC	CTCGTCGTCGTC	11: 102,197,784 (GRCm39)		probably benign	Het
Vars1	TGG	TGGAGTCCTGGGCGG	17: 35,234,965 (GRCm39)		probably benign	Homo
Vmn1r171	C	T	7: 23,332,105 (GRCm39)	A110V	probably benign	Het
Vmn2r31	G	T	7: 7,387,607 (GRCm39)	Q655K	probably damaging	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	CG	CGAGATGTGTG	14: 75,561,050 (GRCm39)		probably benign	Het
Zc3h13	AGATGTGCG	AGATGTGCGGGATGTGCG	14: 75,561,043 (GRCm39)		probably benign	Het
Zfp282	GGC	GGCCGC	6: 47,881,731 (GRCm39)		probably benign	Het
Zfp384	AGGC	AGGCCCAGGCCCCGGC	6: 125,013,456 (GRCm39)		probably benign	Het
Zfp459	TGA	TGAGCGA	13: 67,556,393 (GRCm39)		probably null	Homo
Zfp462	GCCACC	GCCACCTCAGCCACAACCACC	4: 55,009,757 (GRCm39)		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758 (GRCm39)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,899,749 (GRCm39)		probably benign	Het
Zfp831	CCT	CCTGCT	2: 174,487,274 (GRCm39)		probably benign	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
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
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'- GTCATTACGGCTCCCATACC -3'
(R):5'- CACCTCACATGATGCACAGG -3'

Sequencing Primer
(F):5'- ATTACGGCTCCCATACCGTTCC -3'
(R):5'- ACATGATGCACAGGGGGCC -3'

Posted On

2018-04-05