Mutagenetix > Incidental Mutation

Incidental Mutation 'R6817:Spdye4c'

537366

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

044929-MU

Accession Numbers

Essential gene?

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

Stock #

R6817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128433129-128440384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128438430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 263 (Y263H)

Ref Sequence

ENSEMBL: ENSMUSP00000135991 (fasta)

Gene Model

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

AlphaFold

I6XKQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000144559
AA Change: Y263H

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

SMART Domains

Protein: ENSMUSP00000140478
Gene: ENSMUSG00000074812
AA Change: Y263H

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: Y263H

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

SMART Domains

Protein: ENSMUSP00000135991
Gene: ENSMUSG00000074812
AA Change: Y263H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Arhgap21	A	C	2: 20,885,107 (GRCm39)	L690R	probably benign	Het
Asxl3	A	G	18: 22,656,637 (GRCm39)	N1549S	probably benign	Het
Cast	T	C	13: 74,847,277 (GRCm39)	T670A	possibly damaging	Het
Cd109	A	G	9: 78,622,237 (GRCm39)	D1409G	probably benign	Het
Cemip	A	G	7: 83,637,200 (GRCm39)	F311S	probably damaging	Het
Cfap43	T	A	19: 47,744,524 (GRCm39)	I1210F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cops5	G	A	1: 10,100,829 (GRCm39)	L256F	probably benign	Het
Cux1	T	C	5: 136,402,027 (GRCm39)		probably null	Het
Dab1	A	G	4: 104,536,743 (GRCm39)	K178E	probably damaging	Het
Ddc	A	G	11: 11,774,854 (GRCm39)	Y346H	probably damaging	Het
Dlg2	T	G	7: 91,614,872 (GRCm39)	D225E	probably benign	Het
Dsg1b	A	T	18: 20,527,462 (GRCm39)	I198F	probably damaging	Het
Ect2l	T	C	10: 18,049,807 (GRCm39)	H155R	probably benign	Het
Epha2	A	G	4: 141,036,305 (GRCm39)	H247R	probably damaging	Het
Esrp1	A	G	4: 11,357,552 (GRCm39)	V355A	probably damaging	Het
Fam78b	A	G	1: 166,906,419 (GRCm39)	M193V	possibly damaging	Het
Gdpd4	A	G	7: 97,607,037 (GRCm39)	T4A	probably benign	Het
Gm17175	T	C	14: 51,810,478 (GRCm39)	N50D	possibly damaging	Het
Kcnt2	A	G	1: 140,173,931 (GRCm39)		probably benign	Het
Lpo	T	C	11: 87,700,067 (GRCm39)	N525D	probably benign	Het
Lrrc41	G	A	4: 115,946,502 (GRCm39)	E406K	possibly damaging	Het
Lrrc59	G	C	11: 94,520,891 (GRCm39)	D21H	probably damaging	Het
Mgat4a	G	A	1: 37,488,204 (GRCm39)	R472*	probably null	Het
Mroh7	C	T	4: 106,571,312 (GRCm39)	A14T	probably benign	Het
Muc5b	T	C	7: 141,416,650 (GRCm39)	S3199P	probably benign	Het
Muc6	T	A	7: 141,237,326 (GRCm39)	Y270F	probably damaging	Het
Myo18b	T	A	5: 112,978,104 (GRCm39)	T1273S	probably benign	Het
Nos2	A	T	11: 78,836,092 (GRCm39)	E385V	possibly damaging	Het
Nsl1	T	G	1: 190,795,471 (GRCm39)		probably null	Het
Nup93	T	C	8: 95,041,310 (GRCm39)		probably null	Het
Or5d45	A	T	2: 88,153,107 (GRCm39)	M314K	probably benign	Het
Pcna-ps2	T	G	19: 9,260,861 (GRCm39)	M40R	probably damaging	Het
Pik3r5	A	G	11: 68,377,407 (GRCm39)	E148G	probably damaging	Het
Pirt	A	G	11: 66,816,737 (GRCm39)	E16G	probably damaging	Het
Pkp4	T	C	2: 59,148,944 (GRCm39)	Y566H	probably damaging	Het
Psg17	A	C	7: 18,548,565 (GRCm39)	V402G	probably damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rassf7	A	G	7: 140,797,360 (GRCm39)	E191G	probably damaging	Het
Rnf213	T	C	11: 119,353,111 (GRCm39)		probably null	Het
Slc34a2	C	T	5: 53,221,370 (GRCm39)	T272I	probably damaging	Het
Sos2	T	C	12: 69,664,935 (GRCm39)	E332G	probably benign	Het
Tmprss11f	C	T	5: 86,704,793 (GRCm39)	V42I	probably benign	Het
Trpv5	T	A	6: 41,634,941 (GRCm39)	N463Y	possibly damaging	Het
Ush2a	A	T	1: 188,595,061 (GRCm39)	Q3831L	probably benign	Het
Wdr41	C	A	13: 95,133,812 (GRCm39)		probably null	Het
Zfand1	A	G	3: 10,405,884 (GRCm39)	C246R	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
R1455:Spdye4c	UTSW	2	128,438,478 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAGAAGTAAATGGGCTCTGTG -3'
(R):5'- TGAACCCATCCATGGTCTTC -3'

Sequencing Primer
(F):5'- TCTGTGTCCAGGATGCCC -3'
(R):5'- AGAACCCTGGCAGACCTCTG -3'

Posted On

2018-10-18