Incidental Mutation 'R4430:Spata4'
ID 328568
Institutional Source Beutler Lab
Gene Symbol Spata4
Ensembl Gene ENSMUSG00000031518
Gene Name spermatogenesis associated 4
Synonyms SRG2, TSARG2, 1700001N01Rik
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4430 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 55053816-55063133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55054878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 86 (I86T)
Ref Sequence ENSEMBL: ENSMUSP00000033917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033917]
AlphaFold Q8K3V1
Predicted Effect probably benign
Transcript: ENSMUST00000033917
AA Change: I86T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033917
Gene: ENSMUSG00000031518
AA Change: I86T

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
Pfam:CH_2 54 149 1.1e-37 PFAM
Pfam:CAMSAP_CH 56 136 2.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162770
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Aak1 A G 6: 86,963,348 (GRCm39) N926S unknown Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
Gm14412 C A 2: 177,007,625 (GRCm39) S90I probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mcm3 A T 1: 20,882,217 (GRCm39) L449* probably null Het
Mif4gd T C 11: 115,499,328 (GRCm39) T185A probably benign Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G probably damaging Het
Other mutations in Spata4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Spata4 APN 8 55,055,341 (GRCm39) splice site probably benign
IGL02418:Spata4 APN 8 55,062,978 (GRCm39) missense probably benign 0.00
IGL02685:Spata4 APN 8 55,053,963 (GRCm39) missense probably benign 0.02
IGL03172:Spata4 APN 8 55,055,440 (GRCm39) missense probably benign 0.00
R0885:Spata4 UTSW 8 55,053,879 (GRCm39) missense probably damaging 0.98
R2237:Spata4 UTSW 8 55,055,664 (GRCm39) missense probably benign 0.06
R2238:Spata4 UTSW 8 55,055,664 (GRCm39) missense probably benign 0.06
R2239:Spata4 UTSW 8 55,055,664 (GRCm39) missense probably benign 0.06
R4915:Spata4 UTSW 8 55,055,471 (GRCm39) splice site probably null
R6508:Spata4 UTSW 8 55,053,887 (GRCm39) missense probably benign
R6809:Spata4 UTSW 8 55,055,368 (GRCm39) missense possibly damaging 0.82
R7148:Spata4 UTSW 8 55,055,585 (GRCm39) missense probably benign 0.17
R8851:Spata4 UTSW 8 55,062,935 (GRCm39) missense probably benign 0.04
R9071:Spata4 UTSW 8 55,055,742 (GRCm39) missense probably damaging 1.00
R9339:Spata4 UTSW 8 55,053,899 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGAGGATTCATTAAAGGACACTTTAGC -3'
(R):5'- GCCTTACAGTGAATTGTTCCATG -3'

Sequencing Primer
(F):5'- AAAGGACACTTTAGCTAACTGCTTTC -3'
(R):5'- GAGTCTCTCTCTCTCTCTCTCTC -3'
Posted On 2015-07-21