Mutagenetix > Incidental Mutation

Incidental Mutation 'R0850:Scaf8'

82534

Institutional Source

Beutler Lab

Gene Symbol

Scaf8

Ensembl Gene

ENSMUSG00000046201

Gene Name

SR-related CTD-associated factor 8

Synonyms

Rbm16, A630086M08Rik, A930036P18Rik

MMRRC Submission

039029-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R0850 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3165247-3249134 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 3246049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076024 (fasta)

Gene Model

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

AlphaFold

Q6DID3

Predicted Effect

probably null
Transcript: ENSMUST00000076734

SMART Domains

Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231685

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Aadacl2fm2	T	G	3: 59,659,669 (GRCm39)	I374R	possibly damaging	Het
Agbl3	T	A	6: 34,776,139 (GRCm39)	F210Y	probably damaging	Het
Dgkq	A	G	5: 108,802,444 (GRCm39)	V418A	possibly damaging	Het
Dmp1	A	T	5: 104,360,653 (GRCm39)	D443V	possibly damaging	Het
Elapor2	T	A	5: 9,467,993 (GRCm39)	N220K	probably damaging	Het
Elavl3	T	G	9: 21,948,059 (GRCm39)	D35A	probably damaging	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fbxw25	T	C	9: 109,478,685 (GRCm39)	K425R	probably benign	Het
Gypa	A	G	8: 81,222,974 (GRCm39)	H26R	unknown	Het
H2-DMb1	T	C	17: 34,374,536 (GRCm39)	V62A	probably benign	Het
Helb	T	C	10: 119,941,272 (GRCm39)	H472R	probably damaging	Het
Herc1	T	G	9: 66,373,952 (GRCm39)	V3197G	probably damaging	Het
Herc2	C	A	7: 55,854,231 (GRCm39)	N3712K	probably benign	Het
Herc6	T	C	6: 57,560,227 (GRCm39)	V89A	possibly damaging	Het
Hspa1l	A	G	17: 35,196,599 (GRCm39)	T213A	probably benign	Het
Kcna7	T	C	7: 45,058,855 (GRCm39)	S381P	probably damaging	Het
Kif19a	C	A	11: 114,671,613 (GRCm39)	P164Q	probably damaging	Het
Macf1	A	G	4: 123,368,195 (GRCm39)	S2189P	probably benign	Het
Mpo	A	G	11: 87,688,328 (GRCm39)	N329S	probably damaging	Het
Mrps15	A	G	4: 125,942,479 (GRCm39)	Y76C	probably damaging	Het
Or51a42	T	A	7: 103,708,252 (GRCm39)	M186L	probably benign	Het
Or6c75	T	C	10: 129,337,593 (GRCm39)	V280A	probably damaging	Het
Prdm2	T	C	4: 142,858,773 (GRCm39)	R1506G	possibly damaging	Het
Ptprb	A	T	10: 116,138,030 (GRCm39)	Q311H	possibly damaging	Het
Ptprb	T	C	10: 116,175,415 (GRCm39)	Y1137H	probably damaging	Het
Slc25a1	A	T	16: 17,745,145 (GRCm39)	F105Y	probably benign	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Spmip3	A	G	1: 177,568,571 (GRCm39)	T23A	probably benign	Het
Tmed10	A	G	12: 85,390,279 (GRCm39)	F195L	probably benign	Het
Tmem45a2	T	A	16: 56,865,732 (GRCm39)	I151F	probably benign	Het
Vmn2r93	C	A	17: 18,525,279 (GRCm39)	F312L	possibly damaging	Het
Zfp326	A	G	5: 106,026,663 (GRCm39)		probably null	Het

Other mutations in Scaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Scaf8	APN	17	3,221,409 (GRCm39)	missense	unknown
IGL00956:Scaf8	APN	17	3,221,422 (GRCm39)	missense	unknown
IGL01610:Scaf8	APN	17	3,246,124 (GRCm39)	missense	probably damaging	1.00
IGL01967:Scaf8	APN	17	3,247,213 (GRCm39)	missense	possibly damaging	0.91
IGL02005:Scaf8	APN	17	3,236,145 (GRCm39)	missense	probably damaging	1.00
IGL03037:Scaf8	APN	17	3,240,496 (GRCm39)	missense	probably damaging	0.99
BB004:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
BB014:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
R0320:Scaf8	UTSW	17	3,228,530 (GRCm39)	missense	unknown
R0789:Scaf8	UTSW	17	3,247,112 (GRCm39)	missense	possibly damaging	0.94
R0919:Scaf8	UTSW	17	3,247,395 (GRCm39)	missense	probably damaging	1.00
R1488:Scaf8	UTSW	17	3,247,872 (GRCm39)	missense	probably damaging	0.97
R1544:Scaf8	UTSW	17	3,195,429 (GRCm39)	missense	probably damaging	0.96
R1928:Scaf8	UTSW	17	3,218,352 (GRCm39)	missense	unknown
R1972:Scaf8	UTSW	17	3,219,646 (GRCm39)	missense	unknown
R2156:Scaf8	UTSW	17	3,214,407 (GRCm39)	splice site	probably null
R2164:Scaf8	UTSW	17	3,247,485 (GRCm39)	missense	probably damaging	1.00
R2680:Scaf8	UTSW	17	3,247,866 (GRCm39)	missense	possibly damaging	0.95
R3794:Scaf8	UTSW	17	3,240,524 (GRCm39)	missense	probably damaging	1.00
R4368:Scaf8	UTSW	17	3,221,470 (GRCm39)	missense	unknown
R4673:Scaf8	UTSW	17	3,248,260 (GRCm39)	missense	probably benign	0.04
R4694:Scaf8	UTSW	17	3,247,679 (GRCm39)	missense	probably damaging	1.00
R4716:Scaf8	UTSW	17	3,227,398 (GRCm39)	missense	unknown
R4852:Scaf8	UTSW	17	3,228,494 (GRCm39)	missense	unknown
R5036:Scaf8	UTSW	17	3,214,537 (GRCm39)	unclassified	probably benign
R5193:Scaf8	UTSW	17	3,240,440 (GRCm39)	missense	probably benign	0.02
R5429:Scaf8	UTSW	17	3,247,385 (GRCm39)	missense	probably benign	0.14
R5816:Scaf8	UTSW	17	3,227,988 (GRCm39)	missense	unknown
R6050:Scaf8	UTSW	17	3,218,383 (GRCm39)	missense	unknown
R6493:Scaf8	UTSW	17	3,221,394 (GRCm39)	missense	unknown
R6616:Scaf8	UTSW	17	3,218,330 (GRCm39)	missense	unknown
R7065:Scaf8	UTSW	17	3,209,486 (GRCm39)	missense	probably damaging	1.00
R7112:Scaf8	UTSW	17	3,213,304 (GRCm39)	missense	unknown
R7141:Scaf8	UTSW	17	3,209,457 (GRCm39)	missense	unknown
R7198:Scaf8	UTSW	17	3,213,373 (GRCm39)	missense	unknown
R7265:Scaf8	UTSW	17	3,227,900 (GRCm39)	missense	unknown
R7592:Scaf8	UTSW	17	3,221,497 (GRCm39)	critical splice donor site	probably null
R7711:Scaf8	UTSW	17	3,237,909 (GRCm39)	missense	probably damaging	0.97
R7813:Scaf8	UTSW	17	3,247,549 (GRCm39)	missense	probably damaging	1.00
R7867:Scaf8	UTSW	17	3,227,994 (GRCm39)	missense	unknown
R7927:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
R7937:Scaf8	UTSW	17	3,247,482 (GRCm39)	missense	probably damaging	0.99
R7958:Scaf8	UTSW	17	3,221,397 (GRCm39)	missense	unknown
R7960:Scaf8	UTSW	17	3,221,397 (GRCm39)	missense	unknown
R8024:Scaf8	UTSW	17	3,209,568 (GRCm39)	missense	unknown
R8118:Scaf8	UTSW	17	3,214,458 (GRCm39)	missense	unknown
R8285:Scaf8	UTSW	17	3,227,404 (GRCm39)	missense	unknown
R8303:Scaf8	UTSW	17	3,198,827 (GRCm39)	missense	unknown
R8365:Scaf8	UTSW	17	3,246,241 (GRCm39)	missense	possibly damaging	0.67
R8544:Scaf8	UTSW	17	3,213,295 (GRCm39)	unclassified	probably benign
R8768:Scaf8	UTSW	17	3,243,349 (GRCm39)	missense	probably benign	0.27
R9520:Scaf8	UTSW	17	3,248,285 (GRCm39)	missense	probably damaging	1.00
R9521:Scaf8	UTSW	17	3,248,285 (GRCm39)	missense	probably damaging	1.00
R9603:Scaf8	UTSW	17	3,246,070 (GRCm39)	missense	possibly damaging	0.80
R9622:Scaf8	UTSW	17	3,248,170 (GRCm39)	missense	probably benign	0.21
R9687:Scaf8	UTSW	17	3,221,410 (GRCm39)	missense	unknown
Z1088:Scaf8	UTSW	17	3,213,258 (GRCm39)	unclassified	probably benign
Z1177:Scaf8	UTSW	17	3,213,269 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTTGTACATATTGCTGAGCTGCC -3'
(R):5'- TCCCTGGATTTTACATGCATACCGC -3'

Sequencing Primer
(F):5'- GCTGAGCTGCCTCATTATGAC -3'
(R):5'- CTTGTGTTCTCACCAGAAGGAATC -3'

Posted On

2013-11-08