Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Scaf1'

32388

Institutional Source

Beutler Lab

Gene Symbol

Scaf1

Ensembl Gene

ENSMUSG00000038406

Gene Name

SR-related CTD-associated factor 1

Synonyms

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R0004 (G1)

Quality Score

175

Status

Validated (trace)

Chromosome

Chromosomal Location

45002948-45016363 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 45007670 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000085383] [ENSMUST00000211735]

Predicted Effect

probably benign
Transcript: ENSMUST00000003284

SMART Domains

Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000085383
AA Change: H595R

SMART Domains

Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
AA Change: H595R

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	185	224	N/A	INTRINSIC
coiled coil region	269	295	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
low complexity region	382	396	N/A	INTRINSIC
low complexity region	411	435	N/A	INTRINSIC
low complexity region	488	511	N/A	INTRINSIC
low complexity region	534	618	N/A	INTRINSIC
low complexity region	631	641	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
low complexity region	703	726	N/A	INTRINSIC
low complexity region	730	739	N/A	INTRINSIC
low complexity region	752	775	N/A	INTRINSIC
Blast:IG_like	776	833	6e-6	BLAST
low complexity region	843	873	N/A	INTRINSIC
low complexity region	876	888	N/A	INTRINSIC
low complexity region	917	937	N/A	INTRINSIC
coiled coil region	963	983	N/A	INTRINSIC
low complexity region	1025	1037	N/A	INTRINSIC
low complexity region	1098	1128	N/A	INTRINSIC
low complexity region	1136	1146	N/A	INTRINSIC
Blast:IG_like	1151	1194	2e-16	BLAST
low complexity region	1225	1256	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000117282
AA Change: H595R

SMART Domains

Protein: ENSMUSP00000114117
Gene: ENSMUSG00000038406
AA Change: H595R

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	185	224	N/A	INTRINSIC
coiled coil region	269	295	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
low complexity region	382	396	N/A	INTRINSIC
low complexity region	411	435	N/A	INTRINSIC
low complexity region	488	511	N/A	INTRINSIC
low complexity region	534	618	N/A	INTRINSIC
low complexity region	631	641	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
low complexity region	703	726	N/A	INTRINSIC
low complexity region	730	739	N/A	INTRINSIC
low complexity region	752	775	N/A	INTRINSIC
Blast:IG_like	776	833	6e-6	BLAST
low complexity region	843	873	N/A	INTRINSIC
low complexity region	876	888	N/A	INTRINSIC
low complexity region	917	937	N/A	INTRINSIC
coiled coil region	963	983	N/A	INTRINSIC
low complexity region	1025	1037	N/A	INTRINSIC
low complexity region	1098	1128	N/A	INTRINSIC
low complexity region	1136	1146	N/A	INTRINSIC
Blast:IG_like	1151	1194	2e-16	BLAST
low complexity region	1225	1256	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148227
AA Change: T1414A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210056

Predicted Effect

unknown
Transcript: ENSMUST00000211735
AA Change: H595R

Meta Mutation Damage Score

0.0893

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Aff3	T	C	1: 38,269,726	D376G	possibly damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,096	T45A	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Helb	G	T	10: 120,108,981	H217N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndst4	T	A	3: 125,570,826	M384K	probably benign	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,411,959	D29E	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prkaa2	C	T	4: 105,047,091	R263Q	probably null	Het
Prmt9	A	G	8: 77,555,782	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	probably benign	Het

Other mutations in Scaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Scaf1	APN	7	45013510	missense	probably damaging	1.00
IGL02644:Scaf1	APN	7	45005933	splice site	probably benign
IGL02660:Scaf1	APN	7	45012118	splice site	probably benign
R0326:Scaf1	UTSW	7	45008751	missense	probably damaging	1.00
R1395:Scaf1	UTSW	7	45008297	missense	probably damaging	0.99
R1799:Scaf1	UTSW	7	45008019	missense	probably damaging	0.97
R3037:Scaf1	UTSW	7	45007347	unclassified	probably benign
R4044:Scaf1	UTSW	7	45006374	unclassified	probably benign
R4808:Scaf1	UTSW	7	45008639	missense	probably damaging	0.99
R4871:Scaf1	UTSW	7	45005879	unclassified	probably benign
R4905:Scaf1	UTSW	7	45012705	missense	probably damaging	1.00
R5214:Scaf1	UTSW	7	45003238	unclassified	probably benign
R5602:Scaf1	UTSW	7	45007583	unclassified	probably benign
R5748:Scaf1	UTSW	7	45012806	splice site	probably null
R5907:Scaf1	UTSW	7	45013592	splice site	probably benign
R6193:Scaf1	UTSW	7	45006780	unclassified	probably benign
R6207:Scaf1	UTSW	7	45007623	unclassified	probably benign
R6948:Scaf1	UTSW	7	45013547	nonsense	probably null
R6969:Scaf1	UTSW	7	45007829	unclassified	probably benign
R7039:Scaf1	UTSW	7	45008426	missense	probably damaging	1.00
R7179:Scaf1	UTSW	7	45007743	missense	unknown
R7356:Scaf1	UTSW	7	45007784	missense	unknown
R7480:Scaf1	UTSW	7	45007649	missense	unknown
R7632:Scaf1	UTSW	7	45007079	missense	unknown
R7971:Scaf1	UTSW	7	45003541	missense	unknown
X0020:Scaf1	UTSW	7	45005529	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGTCCGTTTGATGGCGAACAG -3'
(R):5'- GGGAAGCTAAGAAGCACCGTTCAC -3'

Sequencing Primer
(F):5'- TGATGGCGAACAGGTCGTG -3'
(R):5'- AGCTTGGTTCACACTCCACG -3'

Posted On

2013-05-09