Incidental Mutation 'R6407:Spdye4a'
ID 514488
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 044552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6407 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 143202071-143212645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143211454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 37 (T37A)
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: T37A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082882
Gene: ENSMUSG00000039296
AA Change: T37A

DomainStartEndE-ValueType
low complexity region 91 100 N/A INTRINSIC
Pfam:Spy1 135 264 2.6e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159838
Predicted Effect probably benign
Transcript: ENSMUST00000160502
SMART Domains Protein: ENSMUSP00000123959
Gene: ENSMUSG00000039296

DomainStartEndE-ValueType
low complexity region 54 63 N/A INTRINSIC
Pfam:Spy1 98 161 7.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195900
SMART Domains Protein: ENSMUSP00000142788
Gene: ENSMUSG00000039296

DomainStartEndE-ValueType
low complexity region 54 63 N/A INTRINSIC
Pfam:Spy1 98 227 4.9e-65 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 T C 18: 65,422,809 (GRCm39) Y1963C probably benign Het
Bptf T A 11: 107,001,952 (GRCm39) N387Y probably damaging Het
C1ql2 T C 1: 120,269,340 (GRCm39) L165P probably damaging Het
Col5a2 C A 1: 45,415,938 (GRCm39) C1403F probably damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Htr3a G T 9: 48,812,355 (GRCm39) Y250* probably null Het
Ighg2c T C 12: 113,252,271 (GRCm39) K94E unknown Het
Ighg3 T C 12: 113,323,770 (GRCm39) N206S unknown Het
Il36rn A G 2: 24,171,365 (GRCm39) Y151C probably damaging Het
Kif22 G A 7: 126,632,375 (GRCm39) R312C probably damaging Het
Lap3 T A 5: 45,669,267 (GRCm39) V472E probably damaging Het
Mast3 T C 8: 71,234,772 (GRCm39) T762A probably benign Het
Mfsd12 T C 10: 81,198,067 (GRCm39) probably null Het
Mrpl39 T C 16: 84,529,273 (GRCm39) K123R probably benign Het
Mup8 T A 4: 60,220,394 (GRCm39) T113S possibly damaging Het
Nhp2 T C 11: 51,510,730 (GRCm39) V29A probably benign Het
Or14a260 T C 7: 85,985,277 (GRCm39) E109G possibly damaging Het
Pex3 T C 10: 13,422,112 (GRCm39) R63G probably damaging Het
Pfkl A G 10: 77,824,507 (GRCm39) probably null Het
Rims2 T C 15: 39,315,724 (GRCm39) S617P probably damaging Het
Rnf223 A T 4: 156,216,816 (GRCm39) T64S probably damaging Het
Rrp12 C T 19: 41,872,181 (GRCm39) V432M probably damaging Het
Sag T C 1: 87,742,528 (GRCm39) V100A probably benign Het
Slc17a7 C T 7: 44,819,350 (GRCm39) A167V probably benign Het
Slc38a6 T C 12: 73,356,949 (GRCm39) F115S probably damaging Het
Spata31h1 A G 10: 82,129,645 (GRCm39) S1122P probably benign Het
Sphk2 T C 7: 45,362,024 (GRCm39) T138A possibly damaging Het
Srgap3 T C 6: 112,699,967 (GRCm39) S1004G probably damaging Het
Sult1a1 T C 7: 126,272,356 (GRCm39) probably null Het
Tmem212 A G 3: 27,938,988 (GRCm39) V166A probably benign Het
Tor4a A G 2: 25,084,952 (GRCm39) L317P probably benign Het
Trim43c A T 9: 88,722,467 (GRCm39) T38S probably benign Het
Tshz1 C A 18: 84,034,091 (GRCm39) V106F possibly damaging Het
Tut4 G T 4: 108,415,979 (GRCm39) E1648D probably damaging Het
Yap1 A G 9: 7,962,373 (GRCm39) M225T possibly damaging Het
Zfp74 T C 7: 29,635,048 (GRCm39) E220G probably damaging Het
Other mutations in Spdye4a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9353:Spdye4a UTSW 5 143,204,793 (GRCm39) missense probably benign 0.21
R9648:Spdye4a UTSW 5 143,210,848 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGACACCTGAGTCTACCACC -3'
(R):5'- CCTGATTGGAGGAGAGACACTC -3'

Sequencing Primer
(F):5'- ACCTGAGTCTACCACCCTGTC -3'
(R):5'- AGACACTCCATGGTGGCAG -3'
Posted On 2018-05-04