Mutagenetix > Incidental Mutation

Incidental Mutation 'R9353:Spdye4a'

708215

Institutional Source

Beutler Lab

Gene Symbol

Spdye4a

Ensembl Gene

ENSMUSG00000039296

Gene Name

speedy/RINGO cell cycle regulator family, member E4A

Synonyms

4930445A17Rik, 4930451F05Rik, speedy B, Spdyb, speedy/ringo

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R9353 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143202071-143212645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143204793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 224 (M224I)

Ref Sequence

ENSEMBL: ENSMUSP00000082882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085733] [ENSMUST00000160502] [ENSMUST00000195900]

AlphaFold

Q5IBH6

Predicted Effect

probably benign
Transcript: ENSMUST00000085733
AA Change: M224I

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082882
Gene: ENSMUSG00000039296
AA Change: M224I

Domain	Start	End	E-Value	Type
low complexity region	91	100	N/A	INTRINSIC
Pfam:Spy1	135	264	2.6e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160502

SMART Domains

Protein: ENSMUSP00000123959
Gene: ENSMUSG00000039296

Domain	Start	End	E-Value	Type
low complexity region	54	63	N/A	INTRINSIC
Pfam:Spy1	98	161	7.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195900
AA Change: M187I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142788
Gene: ENSMUSG00000039296
AA Change: M187I

Domain	Start	End	E-Value	Type
low complexity region	54	63	N/A	INTRINSIC
Pfam:Spy1	98	227	4.9e-65	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,517,890 (GRCm39)	V316D	possibly damaging	Het
Bhmt1b	A	G	18: 87,774,954 (GRCm39)	E159G	probably damaging	Het
Cc2d2a	T	C	5: 43,860,691 (GRCm39)		probably null	Het
Ccdc88a	A	G	11: 29,427,433 (GRCm39)	D1046G	probably damaging	Het
Ccl12	A	T	11: 81,993,437 (GRCm39)	D25V	possibly damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Ces3a	G	T	8: 105,776,547 (GRCm39)	R45L	probably benign	Het
Cntln	G	T	4: 84,802,597 (GRCm39)		probably benign	Het
Crybg3	C	A	16: 59,421,107 (GRCm39)		probably null	Het
Cxxc4	G	T	3: 133,945,913 (GRCm39)	G165C	unknown	Het
Dab2ip	G	A	2: 35,598,851 (GRCm39)	C181Y	probably damaging	Het
Dnah11	A	G	12: 118,143,434 (GRCm39)	V403A	probably benign	Het
Dnah12	T	C	14: 26,578,507 (GRCm39)	S3089P	probably damaging	Het
Dnajc13	A	T	9: 104,067,571 (GRCm39)	I1196N	probably benign	Het
Faiml	T	C	9: 99,116,462 (GRCm39)	Y76C	probably damaging	Het
Fam171b	T	A	2: 83,707,028 (GRCm39)	H299Q	probably benign	Het
Fbxo36	A	G	1: 84,874,259 (GRCm39)	N85S	probably benign	Het
Filip1	A	G	9: 79,725,623 (GRCm39)	F999L	possibly damaging	Het
Gtf3c3	A	T	1: 54,445,211 (GRCm39)	S614R	possibly damaging	Het
Il18rap	A	G	1: 40,587,088 (GRCm39)	T457A	probably benign	Het
Inmt	C	T	6: 55,151,984 (GRCm39)		probably benign	Het
Kcnb1	C	T	2: 166,947,007 (GRCm39)	G614S	probably benign	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Kdm5a	T	A	6: 120,404,730 (GRCm39)	V1324E	probably benign	Het
Lyn	A	T	4: 3,746,804 (GRCm39)	Y194F	possibly damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mier1	T	A	4: 103,012,800 (GRCm39)	H397Q	probably damaging	Het
Mov10l1	T	A	15: 88,872,622 (GRCm39)	D105E	possibly damaging	Het
Muc21	T	C	17: 35,930,545 (GRCm39)	T1214A	unknown	Het
Nav3	A	G	10: 109,554,065 (GRCm39)	S1766P	probably damaging	Het
Ncdn	T	A	4: 126,644,464 (GRCm39)	E119D	probably benign	Het
Nckipsd	C	A	9: 108,691,471 (GRCm39)	A416E	probably damaging	Het
Nek5	A	G	8: 22,563,961 (GRCm39)	V623A	probably benign	Het
Oas1g	A	G	5: 121,023,986 (GRCm39)	Y108H	possibly damaging	Het
Or13n4	T	C	7: 106,423,062 (GRCm39)	T224A	probably benign	Het
P2ry1	T	C	3: 60,911,916 (GRCm39)	S352P	probably damaging	Het
Pde6a	T	C	18: 61,390,382 (GRCm39)	F535S	probably damaging	Het
Pitpnb	T	C	5: 111,530,891 (GRCm39)	L228P	probably damaging	Het
Rbck1	G	T	2: 152,161,145 (GRCm39)	H368N	probably damaging	Het
Snrnp35	T	A	5: 124,628,559 (GRCm39)	V124E	probably damaging	Het
Stau1	A	G	2: 166,792,267 (GRCm39)	Y424H	probably damaging	Het
Sult1c2	A	T	17: 54,271,060 (GRCm39)	D190E	probably benign	Het
Thbs1	A	G	2: 117,953,051 (GRCm39)	D887G	probably damaging	Het
Tiam2	C	T	17: 3,558,074 (GRCm39)	Q1233*	probably null	Het
Tmem88	A	G	11: 69,288,939 (GRCm39)	V38A	probably damaging	Het
Vmn1r219	G	A	13: 23,346,902 (GRCm39)	M30I	probably benign	Het
Zswim3	A	G	2: 164,662,261 (GRCm39)	H247R	probably damaging	Het

Other mutations in Spdye4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Spdye4a	APN	5	143,211,460 (GRCm39)	missense	possibly damaging	0.75
R0135:Spdye4a	UTSW	5	143,210,857 (GRCm39)	splice site	probably null
R4387:Spdye4a	UTSW	5	143,211,378 (GRCm39)	missense	probably benign	0.08
R6123:Spdye4a	UTSW	5	143,211,473 (GRCm39)	missense	possibly damaging	0.71
R6407:Spdye4a	UTSW	5	143,211,454 (GRCm39)	missense	probably benign
R8343:Spdye4a	UTSW	5	143,211,562 (GRCm39)	start codon destroyed	probably benign	0.09
R8696:Spdye4a	UTSW	5	143,210,754 (GRCm39)	missense	probably benign	0.00
R8888:Spdye4a	UTSW	5	143,211,418 (GRCm39)	missense	probably benign	0.00
R9648:Spdye4a	UTSW	5	143,210,848 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AAGGTCTGGATTGTAAGCCTGG -3'
(R):5'- AGCTCAAGTCCAGGAAACGG -3'

Sequencing Primer
(F):5'- TGAACAACGCGCGGCTTC -3'
(R):5'- GCCTGCAGAGGTAGCACTAG -3'

Posted On

2022-04-18