Mutagenetix > Incidental Mutation

Incidental Mutation 'R1455:Spdye4c'

161703

Institutional Source

Beutler Lab

Gene Symbol

Spdye4c

Ensembl Gene

ENSMUSG00000074812

Gene Name

speedy/RINGO cell cycle regulator family, member E4C

Synonyms

Gm355, LOC241634

MMRRC Submission

039510-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1455 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128433129-128440384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128438478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 279 (I279F)

Ref Sequence

ENSEMBL: ENSMUSP00000140478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144559] [ENSMUST00000155430] [ENSMUST00000178601]

AlphaFold

I6XKQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000144559
AA Change: I279F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140478
Gene: ENSMUSG00000074812
AA Change: I279F

Domain	Start	End	E-Value	Type
low complexity region	87	99	N/A	INTRINSIC
low complexity region	127	138	N/A	INTRINSIC
Pfam:Spy1	204	335	1.1e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155430

SMART Domains

Protein: ENSMUSP00000117916
Gene: ENSMUSG00000074812

Domain	Start	End	E-Value	Type
low complexity region	87	99	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178601
AA Change: I279F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135991
Gene: ENSMUSG00000074812
AA Change: I279F

Domain	Start	End	E-Value	Type
Pfam:Spy1	37	168	1.3e-54	PFAM

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 87.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,824 (GRCm39)	N285D	possibly damaging	Het
Adam9	T	G	8: 25,483,125 (GRCm39)	M227L	probably benign	Het
Ankrd35	A	G	3: 96,585,471 (GRCm39)	D21G	probably damaging	Het
Arhgap32	C	T	9: 32,171,381 (GRCm39)	A1387V	probably benign	Het
Atg4d	T	A	9: 21,182,097 (GRCm39)	V306E	probably damaging	Het
Brsk1	G	A	7: 4,707,250 (GRCm39)	V268M	probably damaging	Het
Cfap300	T	G	9: 8,022,457 (GRCm39)	N255T	probably benign	Het
Clec4a4	A	G	6: 122,989,758 (GRCm39)	E133G	possibly damaging	Het
Col24a1	T	A	3: 145,166,593 (GRCm39)	L1076H	probably damaging	Het
Ddah1	G	T	3: 145,594,864 (GRCm39)	R208L	probably benign	Het
Dysf	A	G	6: 84,090,368 (GRCm39)	N960S	probably benign	Het
Egln2	A	G	7: 26,859,796 (GRCm39)	Y306H	probably damaging	Het
Fgfr1	T	C	8: 26,052,292 (GRCm39)	V293A	possibly damaging	Het
Gja3	A	G	14: 57,273,842 (GRCm39)	Y177H	probably damaging	Het
Glul	T	A	1: 153,782,845 (GRCm39)		probably null	Het
Gprc5a	G	A	6: 135,056,245 (GRCm39)	V231I	probably benign	Het
Kdm4d	C	A	9: 14,375,691 (GRCm39)	A56S	probably damaging	Het
Lingo4	G	A	3: 94,306,699 (GRCm39)		probably benign	Het
Map6	A	G	7: 98,917,421 (GRCm39)	T65A	probably damaging	Het
Mmrn2	T	C	14: 34,121,089 (GRCm39)	I653T	probably benign	Het
Ndufa12	A	G	10: 94,039,176 (GRCm39)	T70A	probably benign	Het
Nfe2l3	C	A	6: 51,434,744 (GRCm39)	P435T	possibly damaging	Het
Npc1l1	A	T	11: 6,178,174 (GRCm39)	V412E	possibly damaging	Het
Or51a39	A	T	7: 102,363,205 (GRCm39)	Y138*	probably null	Het
Or6aa1	A	T	7: 86,043,803 (GRCm39)	F301Y	probably damaging	Het
Pcnx1	T	C	12: 82,020,008 (GRCm39)	F1344L	probably damaging	Het
Pi4ka	A	G	16: 17,181,818 (GRCm39)	V297A	probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Pramel7	T	C	2: 87,320,067 (GRCm39)	T409A	probably benign	Het
Proc	C	G	18: 32,256,451 (GRCm39)	M405I	probably damaging	Het
Serinc2	C	A	4: 130,158,133 (GRCm39)	A105S	probably damaging	Het
Slc4a10	G	T	2: 62,117,274 (GRCm39)	K744N	probably damaging	Het
Srcap	G	T	7: 127,129,822 (GRCm39)	R568L	probably damaging	Het
Stag3	T	A	5: 138,309,997 (GRCm39)	M1215K	probably benign	Het
Tenm3	C	T	8: 48,732,083 (GRCm39)	A1274T	possibly damaging	Het
Tet2	A	G	3: 133,179,406 (GRCm39)	V1253A	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trip12	T	C	1: 84,736,821 (GRCm39)	I800V	probably benign	Het
Zfc3h1	T	C	10: 115,248,013 (GRCm39)	I1072T	probably benign	Het
Zfp148	T	A	16: 33,315,835 (GRCm39)		probably null	Het
Zfp941	A	G	7: 140,392,687 (GRCm39)	V224A	probably benign	Het

Other mutations in Spdye4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02106:Spdye4c	APN	2	128,434,586 (GRCm39)	missense	possibly damaging	0.89
R0616:Spdye4c	UTSW	2	128,436,132 (GRCm39)	missense	possibly damaging	0.94
R1072:Spdye4c	UTSW	2	128,438,557 (GRCm39)	missense	probably benign	0.02
R1545:Spdye4c	UTSW	2	128,437,632 (GRCm39)	missense	probably benign	0.03
R1682:Spdye4c	UTSW	2	128,434,542 (GRCm39)	missense	probably damaging	0.96
R4668:Spdye4c	UTSW	2	128,434,273 (GRCm39)	missense	possibly damaging	0.46
R4669:Spdye4c	UTSW	2	128,434,273 (GRCm39)	missense	possibly damaging	0.46
R5287:Spdye4c	UTSW	2	128,434,560 (GRCm39)	missense	possibly damaging	0.83
R5445:Spdye4c	UTSW	2	128,438,484 (GRCm39)	nonsense	probably null
R5613:Spdye4c	UTSW	2	128,434,889 (GRCm39)	missense	possibly damaging	0.72
R5629:Spdye4c	UTSW	2	128,438,705 (GRCm39)	missense	probably damaging	1.00
R5786:Spdye4c	UTSW	2	128,438,761 (GRCm39)	makesense	probably null
R5911:Spdye4c	UTSW	2	128,437,994 (GRCm39)	nonsense	probably null
R5912:Spdye4c	UTSW	2	128,437,994 (GRCm39)	nonsense	probably null
R6008:Spdye4c	UTSW	2	128,438,553 (GRCm39)	missense	probably benign	0.00
R6817:Spdye4c	UTSW	2	128,438,430 (GRCm39)	missense	probably damaging	1.00
R6856:Spdye4c	UTSW	2	128,438,050 (GRCm39)	splice site	probably null
R7402:Spdye4c	UTSW	2	128,434,261 (GRCm39)	start codon destroyed	probably benign	0.08
R7677:Spdye4c	UTSW	2	128,436,056 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAACCTGCATGGACTGCTTCC -3'
(R):5'- ACACAGCCCAGAATGCTGCTTC -3'

Sequencing Primer
(F):5'- GCATGGACTGCTTCCCTATC -3'
(R):5'- CAGAATGCTGCTTCAGGGAC -3'

Posted On

2014-03-14