Mutagenetix > Incidental Mutation

Incidental Mutation 'R7971:Scaf1'

650609

Institutional Source

Beutler Lab

Gene Symbol

Scaf1

Ensembl Gene

ENSMUSG00000038406

Gene Name

SR-related CTD-associated factor 1

Synonyms

MMRRC Submission

046014-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R7971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44652372-44665537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44652965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1179 (T1179S)

Ref Sequence

ENSEMBL: ENSMUSP00000082501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000085383] [ENSMUST00000107834] [ENSMUST00000207128] [ENSMUST00000207521] [ENSMUST00000209066] [ENSMUST00000211735]

AlphaFold

Q5U4C3

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: T1179S

SMART Domains

Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
AA Change: T1179S

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 benign
Transcript: ENSMUST00000107834

SMART Domains

Protein: ENSMUSP00000103465
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

probably benign
Transcript: ENSMUST00000207128

Predicted Effect

probably benign
Transcript: ENSMUST00000207129

Predicted Effect

probably benign
Transcript: ENSMUST00000207521

Predicted Effect

probably benign
Transcript: ENSMUST00000208958

Predicted Effect

probably benign
Transcript: ENSMUST00000209066

Predicted Effect

unknown
Transcript: ENSMUST00000211735
AA Change: T1179S

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	G	A	11: 81,754,526 (GRCm39)	A16T	unknown	Het
Abcc1	T	A	16: 14,266,443 (GRCm39)	D880E	probably benign	Het
Adamts2	G	A	11: 50,647,523 (GRCm39)	V299I	probably damaging	Het
Akap6	T	C	12: 53,186,578 (GRCm39)	S1331P	probably damaging	Het
Alms1	T	C	6: 85,605,661 (GRCm39)	L1968S	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Cacnb2	A	T	2: 14,976,409 (GRCm39)	M277L	possibly damaging	Het
Cd80	T	A	16: 38,294,391 (GRCm39)	Y91*	probably null	Het
Cfap46	A	G	7: 139,215,043 (GRCm39)	S1561P	unknown	Het
Clasp1	C	T	1: 118,449,559 (GRCm39)	R647W	probably damaging	Het
Creld1	T	C	6: 113,468,933 (GRCm39)	V299A	probably benign	Het
Csk	C	A	9: 57,535,970 (GRCm39)	G260V	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dgkg	G	A	16: 22,388,966 (GRCm39)	Q403*	probably null	Het
Dnaaf2	T	C	12: 69,244,119 (GRCm39)	D314G	probably damaging	Het
Dsp	T	A	13: 38,376,499 (GRCm39)	L1428Q	probably damaging	Het
Fastkd1	A	G	2: 69,537,703 (GRCm39)	V293A	probably benign	Het
Gm4353	C	A	7: 115,682,747 (GRCm39)	S278I	possibly damaging	Het
Hmgb2	A	G	8: 57,966,168 (GRCm39)	M75V	possibly damaging	Het
Hoxa4	G	A	6: 52,168,711 (GRCm39)		probably benign	Het
Ifi206	A	T	1: 173,298,976 (GRCm39)	W877R	unknown	Het
Ifi44	T	A	3: 151,454,857 (GRCm39)	I123F	possibly damaging	Het
Kcnh6	A	G	11: 105,908,353 (GRCm39)	Y323C	probably damaging	Het
Lars1	T	C	18: 42,351,631 (GRCm39)	T858A	probably benign	Het
Mest	T	A	6: 30,740,734 (GRCm39)	I38N		Het
Npy2r	A	T	3: 82,448,175 (GRCm39)	I200N	probably damaging	Het
Olfm4	T	A	14: 80,259,240 (GRCm39)	M496K	probably damaging	Het
Olfml2a	A	T	2: 38,831,794 (GRCm39)		probably null	Het
Omd	A	T	13: 49,743,730 (GRCm39)	H260L	probably benign	Het
Or8c16	G	T	9: 38,130,843 (GRCm39)	L238F	probably benign	Het
Pigk	C	A	3: 152,450,176 (GRCm39)	Q274K	probably benign	Het
Pmpca	G	A	2: 26,283,164 (GRCm39)	G352R	probably damaging	Het
Prex1	C	T	2: 166,423,859 (GRCm39)	S1181N	probably damaging	Het
Prkg2	A	T	5: 99,079,873 (GRCm39)	F762Y	probably damaging	Het
Rcc1l	A	G	5: 134,194,208 (GRCm39)	S250P	probably damaging	Het
Rufy1	A	T	11: 50,312,498 (GRCm39)	F152Y	probably damaging	Het
Sh3d19	A	G	3: 86,022,103 (GRCm39)	D511G	probably benign	Het
Shroom3	C	T	5: 93,098,933 (GRCm39)	S1471L	probably damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc13a4	A	G	6: 35,248,695 (GRCm39)	L484P	probably damaging	Het
Slc35a1	T	C	4: 34,664,161 (GRCm39)	D319G	probably benign	Het
Synm	T	C	7: 67,384,983 (GRCm39)	E893G	possibly damaging	Het
Tatdn2	A	G	6: 113,687,235 (GRCm39)		probably null	Het
Thada	T	A	17: 84,580,197 (GRCm39)	D1419V	possibly damaging	Het
Tmem87b	A	G	2: 128,692,250 (GRCm39)	D535G	probably null	Het
Tnfrsf25	A	C	4: 152,204,193 (GRCm39)	Q378P	probably damaging	Het
Trim34a	T	C	7: 103,897,025 (GRCm39)	C30R	probably damaging	Het
Triml2	T	C	8: 43,643,313 (GRCm39)	S212P	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het

Other mutations in Scaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Scaf1	APN	7	44,662,934 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCACCTTGACAGGGTTGATC -3'
(R):5'- CAGGGTCTAGCCTATAAGTGTC -3'

Sequencing Primer
(F):5'- TTGACAGGGTTGATCTCCCCG -3'
(R):5'- AGCCTATAAGTGTCTACTAGCCTGG -3'

Posted On

2020-09-15