Incidental Mutation 'R6508:Spata4'
ID 523997
Institutional Source Beutler Lab
Gene Symbol Spata4
Ensembl Gene ENSMUSG00000031518
Gene Name spermatogenesis associated 4
Synonyms SRG2, TSARG2, 1700001N01Rik
MMRRC Submission 044638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 55053816-55063133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55053887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 18 (S18P)
Ref Sequence ENSEMBL: ENSMUSP00000033917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033917]
AlphaFold Q8K3V1
Predicted Effect probably benign
Transcript: ENSMUST00000033917
AA Change: S18P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033917
Gene: ENSMUSG00000031518
AA Change: S18P

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 G A 4: 144,291,590 (GRCm39) R39* probably null Het
Brca2 A T 5: 150,460,058 (GRCm39) E444D possibly damaging Het
Camkk2 G T 5: 122,884,382 (GRCm39) N346K probably damaging Het
Car4 C A 11: 84,856,469 (GRCm39) D252E possibly damaging Het
Chd1 A G 17: 15,958,895 (GRCm39) K649R probably benign Het
Col12a1 A G 9: 79,557,231 (GRCm39) Y1966H probably damaging Het
Crppa C T 12: 36,476,298 (GRCm39) A180V possibly damaging Het
Cts6 T A 13: 61,344,221 (GRCm39) H277L probably damaging Het
Dcc G T 18: 71,439,144 (GRCm39) P1246Q probably damaging Het
Dlg5 G A 14: 24,188,774 (GRCm39) T1739I probably benign Het
Eci1 T A 17: 24,656,283 (GRCm39) N164K probably damaging Het
Entpd7 G A 19: 43,679,525 (GRCm39) R26H probably damaging Het
Fanci A G 7: 79,093,516 (GRCm39) K1008E probably damaging Het
Htr2b T C 1: 86,030,186 (GRCm39) T170A possibly damaging Het
Irgm2 A G 11: 58,110,327 (GRCm39) E18G probably benign Het
Kdm1a A T 4: 136,281,621 (GRCm39) V630E probably damaging Het
Keap1 G A 9: 21,143,010 (GRCm39) T501I possibly damaging Het
L3mbtl3 T A 10: 26,194,325 (GRCm39) H424L unknown Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Macf1 T A 4: 123,363,535 (GRCm39) D3364V probably damaging Het
Map3k20 G A 2: 72,272,253 (GRCm39) G794S probably benign Het
Mcat T C 15: 83,433,452 (GRCm39) Q34R probably benign Het
Mettl4 T C 17: 95,051,373 (GRCm39) E148G probably damaging Het
Mgat3 T C 15: 80,096,225 (GRCm39) S351P possibly damaging Het
Mllt1 A T 17: 57,234,054 (GRCm39) I44N probably damaging Het
Mlxipl G T 5: 135,157,474 (GRCm39) A337S probably benign Het
Naip1 A G 13: 100,572,973 (GRCm39) F254L probably damaging Het
Obscn A T 11: 58,944,973 (GRCm39) probably null Het
Or10q1 C T 19: 13,726,718 (GRCm39) P83S probably damaging Het
Pcdh12 G A 18: 38,414,390 (GRCm39) R912* probably null Het
Pcdh17 A G 14: 84,685,419 (GRCm39) N629D probably damaging Het
Pcnx1 T C 12: 81,959,479 (GRCm39) I170T probably damaging Het
Pgr A G 9: 8,956,290 (GRCm39) Y746C probably damaging Het
Pramel29 A T 4: 143,934,171 (GRCm39) L312* probably null Het
Pum2 T C 12: 8,798,861 (GRCm39) Y991H probably benign Het
Rcc1l A T 5: 134,198,077 (GRCm39) V185D probably damaging Het
Scarb1 A T 5: 125,381,389 (GRCm39) S52T possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Stard13 G A 5: 150,986,754 (GRCm39) T134I probably benign Het
Tbc1d32 C T 10: 56,100,786 (GRCm39) C64Y probably damaging Het
Tll1 T G 8: 64,551,494 (GRCm39) I296L probably damaging Het
Tmem229b T G 12: 79,011,680 (GRCm39) T84P probably damaging Het
Ttn T C 2: 76,544,757 (GRCm39) T32782A possibly damaging Het
Vmn1r73 G A 7: 11,490,631 (GRCm39) V150I possibly damaging Het
Vmn2r80 T A 10: 79,030,290 (GRCm39) F705L probably benign 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
R4430:Spata4 UTSW 8 55,054,878 (GRCm39) missense probably benign 0.03
R4915:Spata4 UTSW 8 55,055,471 (GRCm39) splice site probably null
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'- GACTGTTAACGTTCATGGATCC -3'
(R):5'- AGCACCTGGTGACATTCCTAG -3'

Sequencing Primer
(F):5'- TGGATCCAGAGATTACTGACTCC -3'
(R):5'- CACCTGGTGACATTCCTAGGGAAG -3'
Posted On 2018-06-22