Incidental Mutation 'R6749:Spata19'
ID 532891
Institutional Source Beutler Lab
Gene Symbol Spata19
Ensembl Gene ENSMUSG00000031991
Gene Name spermatogenesis associated 19
Synonyms
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6749 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 27396800-27401785 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27397980 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000149525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034473] [ENSMUST00000214158] [ENSMUST00000214287]
AlphaFold Q9DAQ9
Predicted Effect probably benign
Transcript: ENSMUST00000034473
AA Change: V94A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034473
Gene: ENSMUSG00000031991
AA Change: V94A

DomainStartEndE-ValueType
Pfam:SPATA19 25 154 2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214158
AA Change: V37A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214240
Predicted Effect probably benign
Transcript: ENSMUST00000214287
AA Change: V59A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215658
Meta Mutation Damage Score 0.0789 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,010,774 V875A possibly damaging Het
Arhgef15 A T 11: 68,954,557 F156L probably damaging Het
Bdh2 T A 3: 135,300,691 S184T probably damaging Het
Bmp5 A T 9: 75,776,093 M1L probably benign Het
Cacfd1 T C 2: 27,018,455 Y134H probably damaging Het
Camk1 G A 6: 113,334,525 P340L probably benign Het
Ccdc105 A C 10: 78,752,838 M46R possibly damaging Het
Cdc14a T C 3: 116,297,158 H424R possibly damaging Het
Cntfr T A 4: 41,663,232 T192S possibly damaging Het
Erbin G T 13: 103,834,377 S910R probably damaging Het
Esrp1 A T 4: 11,357,519 V366E probably damaging Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Fsip2 T A 2: 82,978,394 S1686T possibly damaging Het
Gata5 A G 2: 180,334,350 L7S probably damaging Het
Hgf T A 5: 16,613,642 probably null Het
Ift140 A G 17: 25,098,916 E1458G probably damaging Het
Ift57 G A 16: 49,760,984 G209R probably benign Het
Il12rb2 G T 6: 67,361,966 probably benign Het
Krt78 G A 15: 101,950,923 R280C probably damaging Het
Lipc A G 9: 70,823,386 I88T probably damaging Het
Lrmda G T 14: 22,027,276 R27L probably benign Het
Lrrc37a T G 11: 103,502,097 E834A probably benign Het
Mmachc C A 4: 116,704,541 R132L probably damaging Het
Myo10 T C 15: 25,714,110 Y88H probably damaging Het
Myo5b G A 18: 74,701,503 R878Q possibly damaging Het
Olfr1392 A G 11: 49,294,050 H243R probably damaging Het
Padi3 T C 4: 140,795,853 T289A possibly damaging Het
Pcdhgb4 G T 18: 37,721,229 A226S possibly damaging Het
Pde4c T C 8: 70,746,010 V167A probably damaging Het
Pigr A G 1: 130,846,548 T422A probably benign Het
Pmp2 T C 3: 10,182,482 Y49C probably benign Het
Prpf39 A G 12: 65,056,274 I441V possibly damaging Het
Ptprs A G 17: 56,437,884 V284A probably damaging Het
Rsad1 T C 11: 94,543,340 E354G probably damaging Het
Sema4b T A 7: 80,220,201 D412E possibly damaging Het
Siglecg A G 7: 43,408,979 I97V probably benign Het
Slc4a3 C T 1: 75,554,538 R792* probably null Het
Slc6a20a A G 9: 123,637,070 C569R probably damaging Het
Sult2a3 T A 7: 14,082,704 Y183F probably benign Het
Tedc1 C T 12: 113,158,082 T194M probably damaging Het
Tmem63c T A 12: 87,075,665 N412K probably damaging Het
Trav5-1 T C 14: 52,622,945 I69T possibly damaging Het
Trim68 T C 7: 102,678,783 D321G probably damaging Het
Ttn T C 2: 76,865,256 probably benign Het
Vars2 A G 17: 35,666,713 V109A probably damaging Het
Vmn2r96 C T 17: 18,598,090 P643L probably damaging Het
Zfpm2 G T 15: 40,954,708 V146F possibly damaging Het
Znfx1 T C 2: 167,056,599 K135R probably benign Het
Other mutations in Spata19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Spata19 APN 9 27397980 missense probably benign 0.09
IGL02824:Spata19 APN 9 27397729 missense possibly damaging 0.86
R4965:Spata19 UTSW 9 27400465 missense probably benign 0.16
R6315:Spata19 UTSW 9 27400837 missense possibly damaging 0.85
R7583:Spata19 UTSW 9 27400433 missense possibly damaging 0.86
R8417:Spata19 UTSW 9 27397970 missense probably benign
R9072:Spata19 UTSW 9 27397728 missense possibly damaging 0.86
R9768:Spata19 UTSW 9 27400448 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATGTCCATCAACGACTCTCC -3'
(R):5'- AAGTCCCCAAGGCATGACTG -3'

Sequencing Primer
(F):5'- CATACATGTGACCAGAGATTTGG -3'
(R):5'- CCAAGGCATGACTGAGGAATTTCTC -3'
Posted On 2018-08-29