Incidental Mutation 'PIT4458001:Spata20'
ID 555923
Institutional Source Beutler Lab
Gene Symbol Spata20
Ensembl Gene ENSMUSG00000020867
Gene Name spermatogenesis associated 20
Synonyms Tisp78
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # PIT4458001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94369730-94376136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94375434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 120 (M120T)
Ref Sequence ENSEMBL: ENSMUSP00000042572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041705] [ENSMUST00000127305]
AlphaFold Q80YT5
Predicted Effect probably damaging
Transcript: ENSMUST00000041705
AA Change: M120T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: M120T

DomainStartEndE-ValueType
Pfam:Thioredox_DsbH 66 228 2.9e-75 PFAM
Pfam:Thioredoxin_7 86 176 1.5e-13 PFAM
SCOP:d1fp3a_ 464 686 8e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127305
SMART Domains Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080

DomainStartEndE-ValueType
ENTH 18 144 1.3e-62 SMART
low complexity region 167 190 N/A INTRINSIC
UIM 202 221 2.11e-2 SMART
UIM 229 248 5.27e-3 SMART
low complexity region 269 285 N/A INTRINSIC
low complexity region 554 572 N/A INTRINSIC
low complexity region 578 588 N/A INTRINSIC
low complexity region 599 618 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 73.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,248,304 (GRCm39) V2684L probably benign Het
Adamts9 T A 6: 92,866,886 (GRCm39) I718F probably damaging Het
Adcyap1r1 A G 6: 55,455,067 (GRCm39) D110G probably benign Het
Adgrd1 G A 5: 129,208,641 (GRCm39) G281D probably damaging Het
Afg1l A T 10: 42,330,366 (GRCm39) C100* probably null Het
Atp2a2 G A 5: 122,595,372 (GRCm39) Q993* probably null Het
Baz1a A G 12: 54,977,095 (GRCm39) M389T probably benign Het
Btnl4 T A 17: 34,693,242 (GRCm39) M58L probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cpeb1 A T 7: 80,998,180 (GRCm39) F533Y probably damaging Het
Ctnna1 T A 18: 35,308,179 (GRCm39) N166K possibly damaging Het
Ecsit T C 9: 21,987,580 (GRCm39) H153R probably damaging Het
Gbp8 T C 5: 105,162,955 (GRCm39) K480E probably benign Het
Glyat A T 19: 12,625,373 (GRCm39) T66S probably benign Het
Gm1110 T C 9: 26,792,124 (GRCm39) Q632R probably benign Het
Gm12185 C T 11: 48,798,738 (GRCm39) R585Q probably damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gm7489 A C 15: 53,749,195 (GRCm39) E89A unknown Het
Grb7 C T 11: 98,344,655 (GRCm39) Q353* probably null Het
Ifi207 G A 1: 173,562,738 (GRCm39) T136I unknown Het
Ighv3-1 T C 12: 113,928,224 (GRCm39) Y45C probably benign Het
Ing5 A G 1: 93,739,668 (GRCm39) M92V possibly damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Lmo7 C T 14: 102,124,923 (GRCm39) Q583* probably null Het
Lrrc37a T C 11: 103,395,338 (GRCm39) D29G probably benign Het
Mpdz G T 4: 81,337,263 (GRCm39) A10D probably damaging Het
Myh4 A G 11: 67,131,821 (GRCm39) M94V possibly damaging Het
Nectin2 A C 7: 19,472,252 (GRCm39) L46V probably benign Het
Nynrin A T 14: 56,101,425 (GRCm39) T365S probably benign Het
Or4c120 A T 2: 89,000,977 (GRCm39) I193K probably benign Het
Pde4b A C 4: 102,459,875 (GRCm39) E570A probably damaging Het
Phf3 T C 1: 30,855,622 (GRCm39) H988R probably damaging Het
Ppfia2 A G 10: 106,763,708 (GRCm39) K1234E probably benign Het
Prl7c1 A T 13: 27,957,741 (GRCm39) M233K probably benign Het
Prp2 C T 6: 132,577,510 (GRCm39) P266S unknown Het
Ralgds T C 2: 28,432,486 (GRCm39) L160P probably damaging Het
Rasa1 A T 13: 85,375,237 (GRCm39) M664K possibly damaging Het
Ryr2 T C 13: 11,570,334 (GRCm39) T4930A probably benign Het
Senp8 T C 9: 59,644,763 (GRCm39) Y131C probably damaging Het
Sp100 A G 1: 85,635,837 (GRCm39) I547M probably benign Het
Spata31 A G 13: 65,069,664 (GRCm39) H604R probably benign Het
Sycp1 A T 3: 102,842,149 (GRCm39) S53T probably benign Het
Tgm1 T C 14: 55,950,022 (GRCm39) D62G unknown Het
Trpm1 G C 7: 63,918,309 (GRCm39) E1434Q possibly damaging Het
Tshb A T 3: 102,685,480 (GRCm39) Y50N probably damaging Het
Wdr17 A T 8: 55,126,614 (GRCm39) Y413* probably null Het
Zdhhc16 G A 19: 41,926,209 (GRCm39) G55R possibly damaging Het
Other mutations in Spata20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Spata20 APN 11 94,369,943 (GRCm39) missense probably damaging 1.00
IGL01123:Spata20 APN 11 94,374,221 (GRCm39) missense probably benign
IGL02008:Spata20 APN 11 94,374,289 (GRCm39) missense probably damaging 1.00
R0136:Spata20 UTSW 11 94,371,435 (GRCm39) missense probably damaging 1.00
R0243:Spata20 UTSW 11 94,372,472 (GRCm39) missense probably benign
R0557:Spata20 UTSW 11 94,376,048 (GRCm39) missense probably benign 0.00
R0657:Spata20 UTSW 11 94,371,435 (GRCm39) missense probably damaging 1.00
R1712:Spata20 UTSW 11 94,371,340 (GRCm39) missense probably benign
R2166:Spata20 UTSW 11 94,369,930 (GRCm39) missense probably benign 0.25
R4298:Spata20 UTSW 11 94,373,914 (GRCm39) missense probably damaging 0.99
R4740:Spata20 UTSW 11 94,375,404 (GRCm39) missense possibly damaging 0.94
R4791:Spata20 UTSW 11 94,375,412 (GRCm39) missense probably damaging 0.99
R4980:Spata20 UTSW 11 94,375,435 (GRCm39) missense probably damaging 1.00
R5894:Spata20 UTSW 11 94,374,444 (GRCm39) missense probably damaging 0.98
R6373:Spata20 UTSW 11 94,374,226 (GRCm39) missense probably benign
R7400:Spata20 UTSW 11 94,374,226 (GRCm39) missense probably benign
R7439:Spata20 UTSW 11 94,374,867 (GRCm39) missense probably benign 0.02
R7441:Spata20 UTSW 11 94,374,867 (GRCm39) missense probably benign 0.02
R7562:Spata20 UTSW 11 94,373,379 (GRCm39) missense probably benign 0.31
R7974:Spata20 UTSW 11 94,374,966 (GRCm39) missense possibly damaging 0.66
R8036:Spata20 UTSW 11 94,369,963 (GRCm39) missense probably benign 0.17
R8060:Spata20 UTSW 11 94,373,065 (GRCm39) missense probably benign
R8335:Spata20 UTSW 11 94,373,369 (GRCm39) missense probably benign 0.05
R8447:Spata20 UTSW 11 94,373,080 (GRCm39) missense probably damaging 1.00
R8676:Spata20 UTSW 11 94,372,607 (GRCm39) missense probably damaging 1.00
R9492:Spata20 UTSW 11 94,374,444 (GRCm39) missense probably damaging 0.98
Z1176:Spata20 UTSW 11 94,371,361 (GRCm39) missense probably benign 0.45
Z1177:Spata20 UTSW 11 94,373,965 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACACATTCATTGGCCAGCCTC -3'
(R):5'- GACAGGAAGCCTTCGACAAG -3'

Sequencing Primer
(F):5'- ACTACTGGTGGCCTGGAAG -3'
(R):5'- ATGAGGTTCAGTGACAGG -3'
Posted On 2019-06-07