Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Scaf4'

318996

Institutional Source

Beutler Lab

Gene Symbol

Scaf4

Ensembl Gene

ENSMUSG00000022983

Gene Name

SR-related CTD-associated factor 4

Synonyms

Sfrs15, Sra4, Srsf15

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.703) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90225680-90284503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90260215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 83 (V83I)

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: V83I

SMART Domains

Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: V83I

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: V83I

SMART Domains

Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: V83I

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

noncoding transcript
Transcript: ENSMUST00000231776

Predicted Effect

unknown
Transcript: ENSMUST00000232371
AA Change: V83I

Meta Mutation Damage Score

0.0848

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	Het

Other mutations in Scaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Scaf4	APN	16	90247281	missense	unknown
IGL00536:Scaf4	APN	16	90257362	missense	unknown
IGL01122:Scaf4	APN	16	90248630	missense	unknown
IGL02015:Scaf4	APN	16	90258846	missense	unknown
IGL02074:Scaf4	APN	16	90242920	missense	unknown
IGL02555:Scaf4	APN	16	90250305	missense	unknown
IGL02735:Scaf4	APN	16	90245515	missense	unknown
FR4304:Scaf4	UTSW	16	90229854	small deletion	probably benign
FR4589:Scaf4	UTSW	16	90229854	small deletion	probably benign
R0217:Scaf4	UTSW	16	90242682	missense	probably damaging	0.99
R0410:Scaf4	UTSW	16	90260170	missense	unknown
R0681:Scaf4	UTSW	16	90249694	missense	unknown
R1099:Scaf4	UTSW	16	90263098	missense	unknown
R1510:Scaf4	UTSW	16	90245394	missense	unknown
R1694:Scaf4	UTSW	16	90229857	small deletion	probably benign
R2077:Scaf4	UTSW	16	90252435	missense	unknown
R2087:Scaf4	UTSW	16	90252425	missense	unknown
R2182:Scaf4	UTSW	16	90230140	missense	probably benign	0.15
R2698:Scaf4	UTSW	16	90244356	missense	unknown
R2925:Scaf4	UTSW	16	90250289	missense	unknown
R3025:Scaf4	UTSW	16	90251938	missense	unknown
R3236:Scaf4	UTSW	16	90260217	missense	unknown
R4584:Scaf4	UTSW	16	90229515	unclassified	probably benign
R4735:Scaf4	UTSW	16	90252432	missense	unknown
R4835:Scaf4	UTSW	16	90250307	missense	unknown
R4969:Scaf4	UTSW	16	90251943	nonsense	probably null
R5174:Scaf4	UTSW	16	90247174	missense	unknown
R5568:Scaf4	UTSW	16	90229857	small deletion	probably benign
R5615:Scaf4	UTSW	16	90251960	missense	unknown
R5638:Scaf4	UTSW	16	90244310	missense	unknown
R6364:Scaf4	UTSW	16	90260248	nonsense	probably null
R6470:Scaf4	UTSW	16	90229638	nonsense	probably null
R7049:Scaf4	UTSW	16	90260187	missense	unknown
R7198:Scaf4	UTSW	16	90252430	missense	unknown
R7446:Scaf4	UTSW	16	90258770	missense	unknown
R7501:Scaf4	UTSW	16	90230076	missense	unknown
R7580:Scaf4	UTSW	16	90229852	nonsense	probably null
R7631:Scaf4	UTSW	16	90229557	missense	unknown
R8380:Scaf4	UTSW	16	90260245	missense	unknown
R8963:Scaf4	UTSW	16	90229857	small deletion	probably benign
R9149:Scaf4	UTSW	16	90230166	missense	probably damaging	0.99
R9468:Scaf4	UTSW	16	90229399	missense	unknown
R9696:Scaf4	UTSW	16	90247234	missense	unknown
R9798:Scaf4	UTSW	16	90248645	missense	unknown
X0013:Scaf4	UTSW	16	90252291	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGTGTCAACAACGTGAACG -3'
(R):5'- GCGAGCTGATGTGTGACATAG -3'

Sequencing Primer
(F):5'- CGTGAACGTAAGCATTGTGTGAG -3'
(R):5'- GGGTCAGATTCACCTCTGGAATAC -3'

Posted On

2015-06-10