Mutagenetix > Incidental Mutation

Incidental Mutation 'R8135:Spdye4b'

632216

Institutional Source

Beutler Lab

Gene Symbol

Spdye4b

Ensembl Gene

ENSMUSG00000029586

Gene Name

speedy/RINGO cell cycle regulator family, member E4B

Synonyms

4933411G11Rik

MMRRC Submission

067563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143166772-143190830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143180777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 81 (V81A)

Ref Sequence

ENSEMBL: ENSMUSP00000031574 (fasta)

Gene Model

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

AlphaFold

Q8CDE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031574
AA Change: V81A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031574
Gene: ENSMUSG00000029586
AA Change: V81A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159781
AA Change: V81A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125524
Gene: ENSMUSG00000029586
AA Change: V81A

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,674,712 (GRCm39)	I420V	probably benign	Het
Adam7	A	T	14: 68,754,022 (GRCm39)	M359K	probably damaging	Het
Adra1d	C	T	2: 131,403,692 (GRCm39)	A133T	probably damaging	Het
B3galnt2	T	A	13: 14,145,454 (GRCm39)		probably null	Het
Camk1g	A	G	1: 193,036,335 (GRCm39)	V175A	possibly damaging	Het
Cfi	A	G	3: 129,648,649 (GRCm39)	N178D	probably benign	Het
Csf2rb	T	A	15: 78,232,319 (GRCm39)	I542K	possibly damaging	Het
Ctsz	T	C	2: 174,270,946 (GRCm39)	T183A	probably benign	Het
Dhx8	A	G	11: 101,629,090 (GRCm39)	D213G	unknown	Het
Dph7	T	C	2: 24,859,556 (GRCm39)	I271T	probably benign	Het
Edem1	G	T	6: 108,806,022 (GRCm39)	E108*	probably null	Het
Enpp4	T	C	17: 44,412,226 (GRCm39)	T328A	probably benign	Het
Fasl	A	G	1: 161,614,697 (GRCm39)	V122A	probably benign	Het
Fut2	T	C	7: 45,300,566 (GRCm39)	T69A	probably damaging	Het
Gaa	T	C	11: 119,169,210 (GRCm39)		probably null	Het
Galnt5	T	A	2: 57,904,880 (GRCm39)	V481D	probably damaging	Het
Gsdma2	A	G	11: 98,542,872 (GRCm39)	I211V	probably benign	Het
H2-M10.4	T	C	17: 36,772,662 (GRCm39)	T107A	probably benign	Het
Iqcg	T	A	16: 32,849,394 (GRCm39)	K297N	probably benign	Het
Map2	A	G	1: 66,452,828 (GRCm39)	T573A	probably damaging	Het
Nhsl1	A	G	10: 18,407,180 (GRCm39)	D1438G	probably damaging	Het
Nipal2	A	T	15: 34,678,719 (GRCm39)	Y41N	possibly damaging	Het
Obscn	A	T	11: 58,922,703 (GRCm39)	S5878T	possibly damaging	Het
Pde6a	T	C	18: 61,418,996 (GRCm39)	F791L	probably damaging	Het
Phip	A	T	9: 82,812,427 (GRCm39)	N308K	probably benign	Het
Pigc	A	G	1: 161,798,134 (GRCm39)	K39E	possibly damaging	Het
Robo2	T	G	16: 73,730,048 (GRCm39)	I1050L	probably benign	Het
Rps2	A	G	17: 24,939,409 (GRCm39)	K54E	probably benign	Het
Set	T	A	2: 29,959,439 (GRCm39)	D137E	probably benign	Het
Sipa1l1	A	G	12: 82,388,075 (GRCm39)	I100M	probably benign	Het
Tbc1d2	T	C	4: 46,609,071 (GRCm39)	D722G	probably benign	Het
Tecpr1	T	A	5: 144,135,420 (GRCm39)	D1011V	probably damaging	Het
Unc80	A	T	1: 66,548,446 (GRCm39)	I573F	possibly damaging	Het
Vmn1r74	T	A	7: 11,581,530 (GRCm39)	C277S	probably benign	Het
Vwa1	T	A	4: 155,857,351 (GRCm39)	D149V	probably damaging	Het
Zfp397	T	A	18: 24,089,564 (GRCm39)	V23E	probably damaging	Het
Zmynd8	T	C	2: 165,654,346 (GRCm39)	D722G	probably damaging	Het

Other mutations in Spdye4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Spdye4b	APN	5	143,188,166 (GRCm39)	missense	probably benign	0.41
R0080:Spdye4b	UTSW	5	143,181,430 (GRCm39)	missense	probably damaging	1.00
R0082:Spdye4b	UTSW	5	143,181,430 (GRCm39)	missense	probably damaging	1.00
R0904:Spdye4b	UTSW	5	143,181,423 (GRCm39)	splice site	probably benign
R1474:Spdye4b	UTSW	5	143,181,472 (GRCm39)	missense	probably damaging	1.00
R2484:Spdye4b	UTSW	5	143,187,848 (GRCm39)	missense	possibly damaging	0.95
R3838:Spdye4b	UTSW	5	143,178,084 (GRCm39)	missense	probably benign
R4766:Spdye4b	UTSW	5	143,182,089 (GRCm39)	missense	probably damaging	0.99
R5303:Spdye4b	UTSW	5	143,188,158 (GRCm39)	missense	probably benign	0.33
R5569:Spdye4b	UTSW	5	143,188,176 (GRCm39)	missense	probably benign	0.15
R5778:Spdye4b	UTSW	5	143,188,142 (GRCm39)	missense	probably damaging	1.00
R7310:Spdye4b	UTSW	5	143,188,103 (GRCm39)	missense	probably damaging	0.99
R7347:Spdye4b	UTSW	5	143,188,145 (GRCm39)	missense	possibly damaging	0.93
R7532:Spdye4b	UTSW	5	143,180,652 (GRCm39)	missense	possibly damaging	0.75
R7860:Spdye4b	UTSW	5	143,180,609 (GRCm39)	missense	possibly damaging	0.73
R8872:Spdye4b	UTSW	5	143,187,815 (GRCm39)	missense	probably damaging	1.00
R9577:Spdye4b	UTSW	5	143,182,055 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCGGGCTTTCTTCACATAGAAC -3'
(R):5'- CTAAGCCCAGTTCACATGTGTG -3'

Sequencing Primer
(F):5'- GGCTTTCTTCACATAGAACCAAGGG -3'
(R):5'- ACATGTGTGACCCTGGGAATC -3'

Posted On

2020-06-30