Mutagenetix > Incidental Mutations

Incidental Mutation 'R0904:Spdye4b'

83245

Institutional Source

Beutler Lab

Gene Symbol

Spdye4b

Ensembl Gene

ENSMUSG00000029586

Gene Name

speedy/RINGO cell cycle regulator family, member E4B

Synonyms

4933411G11Rik

MMRRC Submission

039062-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143181017-143205075 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 143195668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031574] [ENSMUST00000159781]

AlphaFold

Q8CDE8

Predicted Effect

probably benign
Transcript: ENSMUST00000031574

SMART Domains

Protein: ENSMUSP00000031574
Gene: ENSMUSG00000029586

Domain	Start	End	E-Value	Type
low complexity region	40	48	N/A	INTRINSIC
Pfam:Spy1	84	213	1e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159781

SMART Domains

Protein: ENSMUSP00000125524
Gene: ENSMUSG00000029586

Domain	Start	End	E-Value	Type
low complexity region	40	48	N/A	INTRINSIC
Pfam:Spy1	84	213	1.3e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198090

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 94.7%

Validation Efficiency

89% (34/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,248,489		probably benign	Het
2810474O19Rik	G	A	6: 149,328,269	A938T	probably damaging	Het
9230110F15Rik	T	C	9: 35,839,070	D102G	probably damaging	Het
Abca13	T	C	11: 9,298,740	V2829A	probably benign	Het
Adk	G	T	14: 21,092,428	D26Y	probably damaging	Het
Bpifb9a	T	C	2: 154,264,225		probably benign	Het
Dap	G	A	15: 31,272,380		probably benign	Het
Eqtn	A	T	4: 94,907,655	S270T	probably benign	Het
Fam193a	A	G	5: 34,462,143	D764G	probably damaging	Het
Fbxl6	A	T	15: 76,537,083		probably null	Het
Gm13212	T	C	4: 145,622,175	Y61H	possibly damaging	Het
Gm3259	A	C	5: 95,341,327	T210P	probably damaging	Het
Gtf3c1	A	T	7: 125,668,842		probably benign	Het
H2-D1	G	C	17: 35,263,861	M122I	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map1s	C	A	8: 70,914,188	P579Q	probably damaging	Het
Mapk10	A	G	5: 102,987,280		probably benign	Het
Mllt6	C	G	11: 97,664,998	C51W	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Neurod2	G	T	11: 98,327,321	T339K	probably benign	Het
Nfya	G	A	17: 48,395,787	Q29*	probably null	Het
Nipbl	A	T	15: 8,361,718	D257E	probably benign	Het
Pex5	G	A	6: 124,399,937		probably benign	Het
Prx	T	A	7: 27,518,294	F879Y	probably damaging	Het
Scai	G	A	2: 39,075,152	T560M	possibly damaging	Het
Slfn10-ps	T	C	11: 83,035,409		noncoding transcript	Het
Ss18l1	A	G	2: 180,059,354	Y287C	probably damaging	Het
Tpbg	C	A	9: 85,844,564	F195L	unknown	Het
Trbv16	T	C	6: 41,151,847		probably benign	Het
Unc5c	A	G	3: 141,803,840	T620A	probably benign	Het
Vangl1	A	G	3: 102,183,994	S259P	probably damaging	Het
Vmn1r52	T	A	6: 90,179,464	M71K	probably damaging	Het
Vmn2r23	A	T	6: 123,742,135	I816F	probably damaging	Het

Other mutations in Spdye4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Spdye4b	APN	5	143202411	missense	probably benign	0.41
R0080:Spdye4b	UTSW	5	143195675	missense	probably damaging	1.00
R0082:Spdye4b	UTSW	5	143195675	missense	probably damaging	1.00
R1474:Spdye4b	UTSW	5	143195717	missense	probably damaging	1.00
R2484:Spdye4b	UTSW	5	143202093	missense	possibly damaging	0.95
R3838:Spdye4b	UTSW	5	143192329	missense	probably benign
R4766:Spdye4b	UTSW	5	143196334	missense	probably damaging	0.99
R5303:Spdye4b	UTSW	5	143202403	missense	probably benign	0.33
R5569:Spdye4b	UTSW	5	143202421	missense	probably benign	0.15
R5778:Spdye4b	UTSW	5	143202387	missense	probably damaging	1.00
R7310:Spdye4b	UTSW	5	143202348	missense	probably damaging	0.99
R7347:Spdye4b	UTSW	5	143202390	missense	possibly damaging	0.93
R7532:Spdye4b	UTSW	5	143194897	missense	possibly damaging	0.75
R7860:Spdye4b	UTSW	5	143194854	missense	possibly damaging	0.73
R8135:Spdye4b	UTSW	5	143195022	missense	probably damaging	0.99
R8872:Spdye4b	UTSW	5	143202060	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTATTCCAAGCCTCCTGCCAAG -3'
(R):5'- AGCCCCTGTCCACTCTGTAAGATG -3'

Sequencing Primer
(F):5'- AGAGGCTCCTTGCCATACC -3'
(R):5'- ACTCTGTAAGATGCTGCAAGTCC -3'

Posted On

2013-11-08