Mutagenetix > Incidental Mutations

Incidental Mutation 'R6050:Scaf8'

483519

Institutional Source

Beutler Lab

Gene Symbol

Scaf8

Ensembl Gene

ENSMUSG00000046201

Gene Name

SR-related CTD-associated factor 8

Synonyms

Rbm16, A630086M08Rik, A930036P18Rik

MMRRC Submission

044218-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R6050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3114972-3198859 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3168108 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 251 (T251M)

Ref Sequence

ENSEMBL: ENSMUSP00000076024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076734]

Predicted Effect

unknown
Transcript: ENSMUST00000076734
AA Change: T251M

SMART Domains

Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: T251M

Domain	Start	End	E-Value	Type
RPR	6	136	1.26e-42	SMART
low complexity region	157	171	N/A	INTRINSIC
low complexity region	193	223	N/A	INTRINSIC
low complexity region	232	251	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	305	326	N/A	INTRINSIC
low complexity region	363	380	N/A	INTRINSIC
low complexity region	397	462	N/A	INTRINSIC
RRM	478	547	9.2e-14	SMART
low complexity region	644	677	N/A	INTRINSIC
low complexity region	685	712	N/A	INTRINSIC
low complexity region	857	883	N/A	INTRINSIC
low complexity region	941	953	N/A	INTRINSIC
low complexity region	962	971	N/A	INTRINSIC
low complexity region	1027	1044	N/A	INTRINSIC
internal_repeat_1	1048	1064	2e-5	PROSPERO
internal_repeat_1	1059	1075	2e-5	PROSPERO
low complexity region	1146	1168	N/A	INTRINSIC
low complexity region	1249	1268	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Ahdc1	A	G	4: 133,065,891	D1481G	possibly damaging	Het
Ak9	A	G	10: 41,389,112	E955G	possibly damaging	Het
Aox3	T	C	1: 58,180,655	F1138S	possibly damaging	Het
Bbs2	T	A	8: 94,092,532	N70Y	probably damaging	Het
BC048679	T	C	7: 81,495,591	I70V	possibly damaging	Het
Ccdc141	G	T	2: 77,011,731	A1452E	probably benign	Het
Celsr1	T	C	15: 85,930,611	D1883G	probably benign	Het
Clhc1	A	G	11: 29,561,397	I280M	possibly damaging	Het
Cmtr1	G	T	17: 29,682,134	K678N	probably damaging	Het
Daam2	T	C	17: 49,486,502	D329G	possibly damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Duox1	C	T	2: 122,319,475	P116S	probably benign	Het
Fcf1	G	A	12: 84,982,243	C154Y	probably damaging	Het
Frem2	T	C	3: 53,653,012	N1358S	probably damaging	Het
Gm16432	G	A	1: 178,103,924	A470T	unknown	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Gtf3c3	T	C	1: 54,406,070	I608M	probably benign	Het
Gzf1	G	A	2: 148,684,238	D210N	possibly damaging	Het
Ift140	C	T	17: 25,091,005	R1129C	probably damaging	Het
Lias	A	G	5: 65,393,972	I83V	possibly damaging	Het
Mgea5	A	C	19: 45,765,480	S652A	possibly damaging	Het
Mlh3	T	C	12: 85,240,846	T1342A	possibly damaging	Het
Mn1	A	G	5: 111,419,397	Y411C	probably damaging	Het
Mrps21	C	T	3: 95,862,888	R43H	probably benign	Het
Ncam2	C	T	16: 81,443,166	Q172*	probably null	Het
Notch3	T	C	17: 32,143,527	T1375A	probably benign	Het
Ovol3	T	A	7: 30,234,394	Y101F	probably benign	Het
Pcbp4	T	C	9: 106,462,223	V45A	probably benign	Het
Plec	T	C	15: 76,188,258	E709G	probably damaging	Het
Prcc	G	A	3: 87,869,884	T261I	probably damaging	Het
Psg25	A	G	7: 18,526,478	V165A	probably benign	Het
Rfk	C	T	19: 17,399,532	P133S	probably benign	Het
Sec14l2	T	C	11: 4,111,477	D67G	probably benign	Het
Smtnl1	A	G	2: 84,811,453	I441T	probably damaging	Het
Tbce	C	T	13: 13,998,434	V471I	possibly damaging	Het
Tnip1	G	A	11: 54,917,877	R495C	probably damaging	Het
Trbv19	A	G	6: 41,179,010	K105R	probably benign	Het
Ttc5	T	A	14: 50,773,287	N229I	probably damaging	Het
Ush2a	T	C	1: 188,957,324	F5028L	probably benign	Het
Vmn2r24	T	C	6: 123,815,732	S673P	probably damaging	Het
Zfp780b	A	T	7: 27,964,302	I276N	probably damaging	Het

Other mutations in Scaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Scaf8	APN	17	3171134	missense	unknown
IGL00956:Scaf8	APN	17	3171147	missense	unknown
IGL01610:Scaf8	APN	17	3195849	missense	probably damaging	1.00
IGL01967:Scaf8	APN	17	3196938	missense	possibly damaging	0.91
IGL02005:Scaf8	APN	17	3185870	missense	probably damaging	1.00
IGL03037:Scaf8	APN	17	3190221	missense	probably damaging	0.99
BB004:Scaf8	UTSW	17	3159220	missense	unknown
BB014:Scaf8	UTSW	17	3159220	missense	unknown
R0320:Scaf8	UTSW	17	3178255	missense	unknown
R0789:Scaf8	UTSW	17	3196837	missense	possibly damaging	0.94
R0850:Scaf8	UTSW	17	3195774	splice site	probably null
R0919:Scaf8	UTSW	17	3197120	missense	probably damaging	1.00
R1488:Scaf8	UTSW	17	3197597	missense	probably damaging	0.97
R1544:Scaf8	UTSW	17	3145154	missense	probably damaging	0.96
R1928:Scaf8	UTSW	17	3168077	missense	unknown
R1972:Scaf8	UTSW	17	3169371	missense	unknown
R2156:Scaf8	UTSW	17	3164132	splice site	probably null
R2164:Scaf8	UTSW	17	3197210	missense	probably damaging	1.00
R2680:Scaf8	UTSW	17	3197591	missense	possibly damaging	0.95
R3794:Scaf8	UTSW	17	3190249	missense	probably damaging	1.00
R4368:Scaf8	UTSW	17	3171195	missense	unknown
R4673:Scaf8	UTSW	17	3197985	missense	probably benign	0.04
R4694:Scaf8	UTSW	17	3197404	missense	probably damaging	1.00
R4716:Scaf8	UTSW	17	3177123	missense	unknown
R4852:Scaf8	UTSW	17	3178219	missense	unknown
R5036:Scaf8	UTSW	17	3164262	unclassified	probably benign
R5193:Scaf8	UTSW	17	3190165	missense	probably benign	0.02
R5429:Scaf8	UTSW	17	3197110	missense	probably benign	0.14
R5816:Scaf8	UTSW	17	3177713	missense	unknown
R6493:Scaf8	UTSW	17	3171119	missense	unknown
R6616:Scaf8	UTSW	17	3168055	missense	unknown
R7065:Scaf8	UTSW	17	3159211	missense	probably damaging	1.00
R7112:Scaf8	UTSW	17	3163029	missense	unknown
R7141:Scaf8	UTSW	17	3159182	missense	unknown
R7198:Scaf8	UTSW	17	3163098	missense	unknown
R7265:Scaf8	UTSW	17	3177625	missense	unknown
R7592:Scaf8	UTSW	17	3171222	critical splice donor site	probably null
R7711:Scaf8	UTSW	17	3187634	missense	probably damaging	0.97
R7813:Scaf8	UTSW	17	3197274	missense	probably damaging	1.00
R7867:Scaf8	UTSW	17	3177719	missense	unknown
R7927:Scaf8	UTSW	17	3159220	missense	unknown
R7937:Scaf8	UTSW	17	3197207	missense	probably damaging	0.99
R7958:Scaf8	UTSW	17	3171122	missense	unknown
R7960:Scaf8	UTSW	17	3171122	missense	unknown
R8024:Scaf8	UTSW	17	3159293	missense	unknown
R8118:Scaf8	UTSW	17	3164183	missense	unknown
R8285:Scaf8	UTSW	17	3177129	missense	unknown
R8303:Scaf8	UTSW	17	3148552	missense	unknown
R8365:Scaf8	UTSW	17	3195966	missense	possibly damaging	0.67
Z1088:Scaf8	UTSW	17	3162983	unclassified	probably benign
Z1177:Scaf8	UTSW	17	3162994	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCGAGTACTGACCCAAAATTATG -3'
(R):5'- CGGGACAACTATGATGAGGCTATC -3'

Sequencing Primer
(F):5'- AGAAGCCTCAGCCTTCTA -3'
(R):5'- CAACTATGATGAGGCTATCTTTCTC -3'

Posted On

2017-07-14