Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02146:Scaf1'

281775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scaf1

Ensembl Gene

ENSMUSG00000038406

Gene Name

SR-related CTD-associated factor 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

IGL02146

Quality Score

Status

Chromosome

Chromosomal Location

44652372-44665537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44662934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 26 (D26E)

Ref Sequence

ENSEMBL: ENSMUSP00000148251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044111] [ENSMUST00000085383] [ENSMUST00000211680] [ENSMUST00000211735]

AlphaFold

Q5U4C3

Predicted Effect

probably benign
Transcript: ENSMUST00000044111

SMART Domains

Protein: ENSMUSP00000042150
Gene: ENSMUSG00000038387

Domain	Start	End	E-Value	Type
RAS	27	193	2.25e-113	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085383
AA Change: D26E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
AA Change: D26E

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

probably damaging
Transcript: ENSMUST00000117282
AA Change: D26E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114117
Gene: ENSMUSG00000038406
AA Change: D26E

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: ENSMUST00000139035
AA Change: S18T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148227
AA Change: I155N

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151264
AA Change: D26E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153243
AA Change: D89E

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211680
AA Change: D26E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211735
AA Change: D26E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183606

Predicted Effect

probably benign
Transcript: ENSMUST00000210397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210056

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,023 (GRCm39)	C784R	possibly damaging	Het
Akp3	A	T	1: 87,054,297 (GRCm39)	D278V	probably benign	Het
Atxn7l1	G	T	12: 33,418,030 (GRCm39)	R730S	probably benign	Het
Bag6	A	G	17: 35,355,191 (GRCm39)	T30A	probably damaging	Het
Blk	G	T	14: 63,611,648 (GRCm39)	P429H	probably damaging	Het
Bmp2k	T	A	5: 97,212,689 (GRCm39)	M524K	unknown	Het
Bst1	T	A	5: 43,983,678 (GRCm39)	H221Q	probably damaging	Het
Ces2g	T	C	8: 105,693,576 (GRCm39)	I419T	possibly damaging	Het
Cnep1r1	T	C	8: 88,856,326 (GRCm39)	V34A	probably benign	Het
Ctnnbl1	A	G	2: 157,661,414 (GRCm39)	E308G	probably damaging	Het
Cyp20a1	A	T	1: 60,410,410 (GRCm39)	K237I	possibly damaging	Het
Dlg5	T	C	14: 24,252,429 (GRCm39)	T104A	probably damaging	Het
Dnaaf11	C	T	15: 66,361,374 (GRCm39)	W42*	probably null	Het
Dnaaf11	C	A	15: 66,361,375 (GRCm39)	W42L	probably benign	Het
Dnah9	C	T	11: 65,818,526 (GRCm39)	V3271M	probably damaging	Het
Eed	T	A	7: 89,618,803 (GRCm39)	N204Y	possibly damaging	Het
Fat3	A	G	9: 15,910,878 (GRCm39)	V1708A	probably benign	Het
Fcrl6	T	C	1: 172,426,264 (GRCm39)	T178A	probably benign	Het
Galnt4	A	C	10: 98,945,563 (GRCm39)	K429N	possibly damaging	Het
Ints6	T	A	14: 62,996,709 (GRCm39)	T94S	possibly damaging	Het
Iqsec3	A	T	6: 121,360,916 (GRCm39)	S981T	probably damaging	Het
Itga9	T	A	9: 118,663,400 (GRCm39)	S146T	possibly damaging	Het
Itpr3	A	G	17: 27,336,249 (GRCm39)	Y2325C	probably damaging	Het
Kng2	T	A	16: 22,806,582 (GRCm39)	Q539L	probably damaging	Het
Lmtk3	T	A	7: 45,444,371 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,129,927 (GRCm39)	Y248H	probably damaging	Het
Mroh1	A	G	15: 76,318,879 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Myo18b	A	T	5: 112,991,151 (GRCm39)	M942K	probably damaging	Het
Myzap	T	A	9: 71,471,730 (GRCm39)	T94S	probably benign	Het
Nebl	C	A	2: 17,353,679 (GRCm39)	R957S	probably damaging	Het
Nexn	A	T	3: 151,952,885 (GRCm39)	D278E	probably benign	Het
Nlgn1	A	T	3: 25,966,846 (GRCm39)	N222K	probably damaging	Het
Or6c76	T	A	10: 129,612,727 (GRCm39)		probably benign	Het
Or8d1	G	A	9: 38,766,654 (GRCm39)	A99T	probably benign	Het
Osbpl6	A	T	2: 76,380,094 (GRCm39)	R79S	possibly damaging	Het
Phip	T	C	9: 82,763,771 (GRCm39)	I1268M	probably benign	Het
Pkd2	G	T	5: 104,637,157 (GRCm39)	R590L	probably damaging	Het
Reg2	G	A	6: 78,382,568 (GRCm39)		probably benign	Het
Ska1	A	G	18: 74,329,981 (GRCm39)	I253T	possibly damaging	Het
Slc11a2	T	C	15: 100,299,169 (GRCm39)	N443D	probably damaging	Het
Slc6a12	A	T	6: 121,330,460 (GRCm39)	T155S	probably benign	Het
Slit3	A	G	11: 35,125,675 (GRCm39)	K118R	possibly damaging	Het
Snap23	T	G	2: 120,429,792 (GRCm39)	N212K	probably damaging	Het
Snx13	T	A	12: 35,151,078 (GRCm39)	D346E	probably benign	Het
Sumf1	C	A	6: 108,150,392 (GRCm39)		probably null	Het
Susd2	T	C	10: 75,474,267 (GRCm39)	N479S	possibly damaging	Het
Tiam1	A	G	16: 89,646,569 (GRCm39)	I821T	probably benign	Het
Tll2	C	A	19: 41,086,276 (GRCm39)	V651L	probably benign	Het
Vmn2r1	A	G	3: 64,012,104 (GRCm39)	D655G	probably benign	Het
Vmn2r72	T	C	7: 85,387,170 (GRCm39)	Y798C	probably damaging	Het
Vps13b	A	C	15: 35,646,479 (GRCm39)	I1528L	probably benign	Het
Wdtc1	G	A	4: 133,029,076 (GRCm39)	L337F	probably benign	Het
Zfp128	A	C	7: 12,623,959 (GRCm39)	K109T	possibly damaging	Het

Other mutations in Scaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02644:Scaf1	APN	7	44,655,357 (GRCm39)	splice site	probably benign
IGL02660:Scaf1	APN	7	44,661,542 (GRCm39)	splice site	probably benign
R0004:Scaf1	UTSW	7	44,657,094 (GRCm39)	unclassified	probably benign
R0326:Scaf1	UTSW	7	44,658,175 (GRCm39)	missense	probably damaging	1.00
R1395:Scaf1	UTSW	7	44,657,721 (GRCm39)	missense	probably damaging	0.99
R1799:Scaf1	UTSW	7	44,657,443 (GRCm39)	missense	probably damaging	0.97
R3037:Scaf1	UTSW	7	44,656,771 (GRCm39)	unclassified	probably benign
R4044:Scaf1	UTSW	7	44,655,798 (GRCm39)	unclassified	probably benign
R4808:Scaf1	UTSW	7	44,658,063 (GRCm39)	missense	probably damaging	0.99
R4871:Scaf1	UTSW	7	44,655,303 (GRCm39)	unclassified	probably benign
R4905:Scaf1	UTSW	7	44,662,129 (GRCm39)	missense	probably damaging	1.00
R5214:Scaf1	UTSW	7	44,652,662 (GRCm39)	unclassified	probably benign
R5602:Scaf1	UTSW	7	44,657,007 (GRCm39)	unclassified	probably benign
R5748:Scaf1	UTSW	7	44,662,230 (GRCm39)	splice site	probably null
R5907:Scaf1	UTSW	7	44,663,016 (GRCm39)	splice site	probably benign
R6193:Scaf1	UTSW	7	44,656,204 (GRCm39)	unclassified	probably benign
R6207:Scaf1	UTSW	7	44,657,047 (GRCm39)	unclassified	probably benign
R6948:Scaf1	UTSW	7	44,662,971 (GRCm39)	nonsense	probably null
R6969:Scaf1	UTSW	7	44,657,253 (GRCm39)	unclassified	probably benign
R7039:Scaf1	UTSW	7	44,657,850 (GRCm39)	missense	probably damaging	1.00
R7179:Scaf1	UTSW	7	44,657,167 (GRCm39)	missense	unknown
R7356:Scaf1	UTSW	7	44,657,208 (GRCm39)	missense	unknown
R7480:Scaf1	UTSW	7	44,657,073 (GRCm39)	missense	unknown
R7632:Scaf1	UTSW	7	44,656,503 (GRCm39)	missense	unknown
R7971:Scaf1	UTSW	7	44,652,965 (GRCm39)	missense	unknown
R8354:Scaf1	UTSW	7	44,657,251 (GRCm39)	unclassified	probably benign
R8770:Scaf1	UTSW	7	44,656,129 (GRCm39)	missense	unknown
R9414:Scaf1	UTSW	7	44,652,716 (GRCm39)	missense	unknown
R9551:Scaf1	UTSW	7	44,658,351 (GRCm39)	missense	probably damaging	1.00
R9552:Scaf1	UTSW	7	44,658,351 (GRCm39)	missense	probably damaging	1.00
R9749:Scaf1	UTSW	7	44,656,576 (GRCm39)	missense	unknown
X0020:Scaf1	UTSW	7	44,654,953 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16