Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00496:Scaf8'

3935

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scaf8

Ensembl Gene

ENSMUSG00000046201

Gene Name

SR-related CTD-associated factor 8

Synonyms

Rbm16, A630086M08Rik, A930036P18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

IGL00496

Quality Score

Status

Chromosome

Chromosomal Location

3165247-3249134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3221409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 299 (I299F)

Ref Sequence

ENSEMBL: ENSMUSP00000076024 (fasta)

Gene Model

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

AlphaFold

Q6DID3

Predicted Effect

unknown
Transcript: ENSMUST00000076734
AA Change: I299F

SMART Domains

Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: I299F

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,960,400 (GRCm39)	V14M	possibly damaging	Het
Adgrg6	C	A	10: 14,326,322 (GRCm39)		probably null	Het
Ankmy1	A	G	1: 92,813,988 (GRCm39)	L397P	probably damaging	Het
Atp6v1c1	A	G	15: 38,687,100 (GRCm39)	K232E	probably damaging	Het
Cnfn	G	T	7: 25,067,385 (GRCm39)		probably benign	Het
Copb2	A	G	9: 98,452,371 (GRCm39)	T52A	probably benign	Het
Daw1	A	C	1: 83,174,957 (GRCm39)	L152F	probably damaging	Het
Gpr87	A	T	3: 59,087,211 (GRCm39)	I98K	probably damaging	Het
Il17a	G	A	1: 20,802,507 (GRCm39)	R72H	probably damaging	Het
Lmtk2	A	G	5: 144,111,512 (GRCm39)	Q744R	probably benign	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Micall2	T	C	5: 139,702,083 (GRCm39)	T387A	probably benign	Het
Nckap1	T	A	2: 80,336,546 (GRCm39)	I1057F	possibly damaging	Het
Nr1h3	T	C	2: 91,020,544 (GRCm39)	D263G	probably damaging	Het
Nrip1	A	T	16: 76,090,591 (GRCm39)	V322E	possibly damaging	Het
Pck1	T	C	2: 172,995,911 (GRCm39)		probably null	Het
Ppp3r2	A	G	4: 49,681,773 (GRCm39)	I59T	possibly damaging	Het
Pradc1	A	G	6: 85,424,948 (GRCm39)		probably null	Het
Psmd14	A	G	2: 61,591,026 (GRCm39)	Y32C	probably damaging	Het
Rrp12	A	C	19: 41,866,466 (GRCm39)		probably null	Het
Selenoo	A	G	15: 88,979,875 (GRCm39)	D341G	probably damaging	Het
Slc1a6	C	A	10: 78,629,142 (GRCm39)	N186K	probably damaging	Het
Smarcc2	T	A	10: 128,298,924 (GRCm39)	S102R	probably damaging	Het
Stambpl1	T	A	19: 34,217,430 (GRCm39)	V423E	probably damaging	Het
Svep1	A	C	4: 58,069,001 (GRCm39)	C2928W	possibly damaging	Het
Tmed9	T	C	13: 55,741,334 (GRCm39)	Y43H	probably benign	Het
Ttn	T	C	2: 76,571,091 (GRCm39)	T24855A	possibly damaging	Het
Usp7	A	G	16: 8,512,977 (GRCm39)	V795A	probably damaging	Het
Wdr17	A	C	8: 55,112,614 (GRCm39)		probably benign	Het

Other mutations in Scaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0850:Scaf8	UTSW	17	3,246,049 (GRCm39)	splice site	probably null
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

Posted On

2012-04-20