Mutagenetix > Incidental Mutation

Incidental Mutation 'R7198:Scaf4'

560109

Institutional Source

Beutler Lab

Gene Symbol

Scaf4

Ensembl Gene

ENSMUSG00000022983

Gene Name

SR-related CTD-associated factor 4

Synonyms

Sra4, Srsf15, Sfrs15

MMRRC Submission

045337-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R7198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90022568-90081391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90049318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 256 (D256E)

Ref Sequence

ENSEMBL: ENSMUSP00000044472 (fasta)

Gene Model

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

AlphaFold

Q7TSH6

Predicted Effect

unknown
Transcript: ENSMUST00000039280
AA Change: D256E

SMART Domains

Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: D256E

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: D256E

SMART Domains

Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: D256E

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

unknown
Transcript: ENSMUST00000232371
AA Change: D256E

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,969,481 (GRCm39)	S365N	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	A	G	2: 59,792,550 (GRCm39)	L526P	probably benign	Het
Bbs1	A	T	19: 4,945,043 (GRCm39)	L376Q	probably damaging	Het
Bcl9	T	A	3: 97,112,511 (GRCm39)	M1315L	possibly damaging	Het
Bcl9	T	C	3: 97,116,183 (GRCm39)	Q837R	probably damaging	Het
Cct2	A	G	10: 116,889,029 (GRCm39)	V490A	probably benign	Het
Cdh23	T	C	10: 60,148,378 (GRCm39)	Y2663C	possibly damaging	Het
Chit1	A	G	1: 134,078,229 (GRCm39)	K346E	possibly damaging	Het
Chl1	A	G	6: 103,683,517 (GRCm39)	Y781C	probably damaging	Het
Col12a1	A	C	9: 79,557,314 (GRCm39)	L1938R	possibly damaging	Het
Cpxm2	T	A	7: 131,681,813 (GRCm39)	N239Y	probably damaging	Het
Cyp3a41b	A	G	5: 145,519,330 (GRCm39)	Y54H	probably benign	Het
Dclk1	A	C	3: 55,385,296 (GRCm39)	D369A	possibly damaging	Het
Dnai4	A	G	4: 102,919,610 (GRCm39)	V498A	probably damaging	Het
Dpy19l3	T	C	7: 35,449,190 (GRCm39)	N71S	possibly damaging	Het
Efcab3	T	A	11: 104,642,711 (GRCm39)	N1111K	probably benign	Het
Fer	T	A	17: 64,228,683 (GRCm39)	V186E	possibly damaging	Het
Gm11042	T	A	12: 74,361,888 (GRCm39)	H39L	unknown	Het
Gm14325	A	G	2: 177,473,798 (GRCm39)	I428T	probably benign	Het
Gm47995	A	G	1: 151,074,404 (GRCm39)	E69G	possibly damaging	Het
Gm6176	T	A	7: 21,750,596 (GRCm39)	I112F	probably damaging	Het
Hivep2	T	A	10: 14,005,710 (GRCm39)	D769E	probably benign	Het
Hsdl1	C	T	8: 120,294,607 (GRCm39)	V40I	probably benign	Het
Ipmk	A	G	10: 71,183,882 (GRCm39)	H34R	probably damaging	Het
Kcnd3	T	C	3: 105,366,856 (GRCm39)	L242P	probably damaging	Het
Kdm4d	T	C	9: 14,375,316 (GRCm39)	M181V	probably damaging	Het
Lats2	A	T	14: 57,934,582 (GRCm39)	I716N	probably damaging	Het
Liph	T	C	16: 21,784,772 (GRCm39)	Y305C	probably damaging	Het
Ltbp1	T	C	17: 75,533,962 (GRCm39)	V150A	possibly damaging	Het
Ly6d	A	T	15: 74,634,384 (GRCm39)	S69T	probably benign	Het
Meltf	A	G	16: 31,702,617 (GRCm39)	R115G	possibly damaging	Het
Msgn1	G	T	12: 11,258,902 (GRCm39)	D16E	probably benign	Het
Mthfd2l	T	A	5: 91,094,705 (GRCm39)	I58K	probably damaging	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Nek10	T	A	14: 14,850,947 (GRCm38)	W331R	probably damaging	Het
Nphp3	A	G	9: 103,881,974 (GRCm39)	Y148C	probably damaging	Het
Or4a47	T	C	2: 89,666,076 (GRCm39)	Y71C	probably damaging	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or6c33	T	A	10: 129,853,760 (GRCm39)	C177S	probably damaging	Het
Oscp1	A	G	4: 125,980,459 (GRCm39)	T325A	possibly damaging	Het
Pcdha4	T	A	18: 37,086,613 (GRCm39)	N265K	probably damaging	Het
Pigq	C	T	17: 26,153,199 (GRCm39)	V331I	probably benign	Het
Plekhg4	A	G	8: 106,105,329 (GRCm39)	E598G	probably damaging	Het
Pou6f2	G	A	13: 18,303,748 (GRCm39)	T120M	probably damaging	Het
Psg27	T	A	7: 18,295,726 (GRCm39)	T240S	probably damaging	Het
Samd12	T	A	15: 53,723,649 (GRCm39)	I15F	probably damaging	Het
Scaf8	T	A	17: 3,213,373 (GRCm39)	M154K	unknown	Het
Slc27a1	T	C	8: 72,032,071 (GRCm39)	V64A	possibly damaging	Het
Smc5	G	A	19: 23,237,064 (GRCm39)	R256*	probably null	Het
Snx31	A	G	15: 36,555,455 (GRCm39)	F31L	probably benign	Het
Spag17	T	C	3: 100,002,888 (GRCm39)	S1871P	probably benign	Het
Tdpoz4	T	G	3: 93,704,662 (GRCm39)	S320A	probably benign	Het
Tmprss11c	A	T	5: 86,379,691 (GRCm39)	C406S	probably damaging	Het
Tnip1	G	A	11: 54,808,630 (GRCm39)	A519V	probably benign	Het
Tssc4	T	A	7: 142,624,724 (GRCm39)		probably null	Het
Uba3	A	T	6: 97,182,512 (GRCm39)	M1K	probably null	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Wnt11	T	C	7: 98,496,588 (GRCm39)	M176T	possibly damaging	Het
Wrn	C	T	8: 33,814,346 (GRCm39)	G366D	probably benign	Het
Xylt1	T	A	7: 117,255,807 (GRCm39)	I793N	probably damaging	Het
Zfp677	T	G	17: 21,618,679 (GRCm39)	C579G	probably damaging	Het
Zscan4-ps1	T	A	7: 10,799,626 (GRCm39)	K421M	probably 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
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
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'- ACTCACAATGGGGTCTGTGGAG -3'
(R):5'- CACTGCTTTCATCATTGGAAAAGG -3'

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

Posted On

2019-06-26