Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Spdye4c'

535237

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

044958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128433129-128440384 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 128438050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135991 (fasta)

Gene Model

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

AlphaFold

I6XKQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000144559

SMART Domains

Protein: ENSMUSP00000140478
Gene: ENSMUSG00000074812

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 null
Transcript: ENSMUST00000178601

SMART Domains

Protein: ENSMUSP00000135991
Gene: ENSMUSG00000074812

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,532,953 (GRCm39)	I47V	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Erg	C	A	16: 95,169,510 (GRCm39)		probably null	Het
Fbxo32	G	A	15: 58,078,037 (GRCm39)		probably benign	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnt2	T	C	1: 140,523,742 (GRCm39)	S1057P	probably damaging	Het
Krt36	T	G	11: 99,994,216 (GRCm39)	Q287P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Or8k27	G	T	2: 86,276,251 (GRCm39)	S25Y	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,059,573 (GRCm39)	A992T	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	probably null	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
R6817:Spdye4c	UTSW	2	128,438,430 (GRCm39)	missense	probably damaging	1.00
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'- CCTCACTCTGTGTATCATTGGG -3'
(R):5'- ACTTCTCAGCTCAGGAAAAGC -3'

Sequencing Primer
(F):5'- CACTCTGTGTATCATTGGGTATGGC -3'
(R):5'- AAGCAAACATAGTTCTTCCTTCC -3'

Posted On

2018-09-12