Incidental Mutation 'R8808:Spata31f3'
ID 672201
Institutional Source Beutler Lab
Gene Symbol Spata31f3
Ensembl Gene ENSMUSG00000050141
Gene Name spermatogenesis associated 31 subfamily F member 3
Synonyms BC049635, Fam205c
MMRRC Submission 068644-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8808 (G1)
Quality Score 153.475
Status Not validated
Chromosome 4
Chromosomal Location 42868004-42874234 bp(-) (GRCm39)
Type of Mutation small deletion (11 aa in frame mutation)
DNA Base Change (assembly) TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG to TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG at 42871823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]
AlphaFold Q80YD3
Predicted Effect probably benign
Transcript: ENSMUST00000055944
SMART Domains Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 51 139 2.7e-31 PFAM
internal_repeat_1 147 168 5.83e-10 PROSPERO
internal_repeat_1 180 201 5.83e-10 PROSPERO
low complexity region 278 289 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107978
SMART Domains Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 52 138 3.4e-28 PFAM
internal_repeat_1 147 168 5.79e-10 PROSPERO
internal_repeat_1 180 201 5.79e-10 PROSPERO
low complexity region 278 289 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (60/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,775,874 (GRCm39) P1688S probably benign Het
4933412E24Rik T C 15: 59,887,919 (GRCm39) T174A probably benign Het
Actl10 T A 2: 154,395,068 (GRCm39) L340Q probably damaging Het
Adra1d T C 2: 131,403,397 (GRCm39) E231G probably damaging Het
Agt T A 8: 125,291,028 (GRCm39) D93V probably benign Het
Als2cl G T 9: 110,718,282 (GRCm39) R341L possibly damaging Het
Ankrd63 G T 2: 118,533,549 (GRCm39) A124E unknown Het
Aqp8 T C 7: 123,065,922 (GRCm39) L239P probably damaging Het
Arhgef11 A G 3: 87,593,336 (GRCm39) E85G probably damaging Het
Cacng4 T A 11: 107,685,209 (GRCm39) I28F possibly damaging Het
Cc2d1a T C 8: 84,861,599 (GRCm39) D741G probably damaging Het
Cct8l1 T A 5: 25,722,210 (GRCm39) N308K possibly damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Chrna5 T A 9: 54,905,348 (GRCm39) D53E probably benign Het
Dap3 A T 3: 88,835,514 (GRCm39) probably null Het
Disp2 A G 2: 118,620,489 (GRCm39) Y407C probably damaging Het
Dnah1 A G 14: 31,008,771 (GRCm39) M2001T probably benign Het
Dysf C G 6: 83,996,466 (GRCm39) probably benign Het
Eif2ak1 A T 5: 143,816,264 (GRCm39) K187N probably damaging Het
Ethe1 T C 7: 24,294,496 (GRCm39) S100P probably damaging Het
Fam186a G C 15: 99,842,604 (GRCm39) I1213M possibly damaging Het
Gbp9 A G 5: 105,232,875 (GRCm39) F259S probably damaging Het
Heatr5b G A 17: 79,072,834 (GRCm39) H1610Y possibly damaging Het
Hk2 T A 6: 82,705,747 (GRCm39) D852V probably benign Het
Hmcn1 T A 1: 150,531,570 (GRCm39) Q3233L possibly damaging Het
Htt T A 5: 35,046,791 (GRCm39) V2369E probably benign Het
Il9 C A 13: 56,629,942 (GRCm39) E35* probably null Het
Itga8 A T 2: 12,137,328 (GRCm39) C933* probably null Het
Jak3 A G 8: 72,138,164 (GRCm39) K872E possibly damaging Het
Kcnmb2 A C 3: 32,252,266 (GRCm39) M156L probably benign Het
Kdm4a C T 4: 117,999,480 (GRCm39) V981I unknown Het
Klhl38 A T 15: 58,178,225 (GRCm39) *582R probably null Het
Map3k19 A G 1: 127,751,866 (GRCm39) F495S probably damaging Het
Mpeg1 T A 19: 12,440,443 (GRCm39) W634R probably damaging Het
Mrpl4 T A 9: 20,918,978 (GRCm39) Y202N possibly damaging Het
Nme8 A G 13: 19,859,978 (GRCm39) V214A probably damaging Het
Or4k36 A T 2: 111,146,239 (GRCm39) R138S possibly damaging Het
Or8k33 G A 2: 86,384,297 (GRCm39) T57M probably damaging Het
Pcdhgb6 A G 18: 37,876,451 (GRCm39) I386M possibly damaging Het
Pitpnm1 T A 19: 4,162,356 (GRCm39) V1062E possibly damaging Het
Plekhm3 G A 1: 64,922,355 (GRCm39) R607W possibly damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prap1 C A 7: 139,676,982 (GRCm39) H141Q probably damaging Het
Prep T A 10: 44,971,252 (GRCm39) Y187* probably null Het
Rergl T G 6: 139,478,865 (GRCm39) E3A probably benign Het
Rnf19a A T 15: 36,242,021 (GRCm39) S673T probably benign Het
St18 G A 1: 6,880,826 (GRCm39) E440K probably damaging Het
Syne1 T A 10: 5,309,074 (GRCm39) Q645L probably damaging Het
Tmcc1 C A 6: 116,111,099 (GRCm39) V61L Het
Tmcc1 A T 6: 116,111,098 (GRCm39) V61E Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem201 C A 4: 149,814,138 (GRCm39) R154L possibly damaging Het
Tmem71 G A 15: 66,410,655 (GRCm39) A239V possibly damaging Het
Tpgs2 A G 18: 25,284,275 (GRCm39) W78R probably damaging Het
Tssc4 T C 7: 142,623,436 (GRCm39) V22A unknown Het
Ttn T A 2: 76,723,128 (GRCm39) E6496D unknown Het
Ttn T A 2: 76,697,539 (GRCm39) L227F Het
Vps50 G T 6: 3,522,338 (GRCm39) G169* probably null Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zfp407 T C 18: 84,361,185 (GRCm39) K1703R probably benign Het
Zfp616 T G 11: 73,976,523 (GRCm39) C931G probably damaging Het
Zfp949 G A 9: 88,451,417 (GRCm39) C329Y probably damaging Het
Zswim5 T A 4: 116,822,887 (GRCm39) D452E probably benign Het
Other mutations in Spata31f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Spata31f3 APN 4 42,868,564 (GRCm39) missense probably benign 0.40
IGL01697:Spata31f3 APN 4 42,874,163 (GRCm39) missense probably benign
IGL02413:Spata31f3 APN 4 42,868,549 (GRCm39) missense probably damaging 0.99
IGL02450:Spata31f3 APN 4 42,874,127 (GRCm39) missense probably benign
R0433:Spata31f3 UTSW 4 42,874,013 (GRCm39) splice site probably benign
R1580:Spata31f3 UTSW 4 42,874,020 (GRCm39) splice site probably null
R2042:Spata31f3 UTSW 4 42,874,030 (GRCm39) missense possibly damaging 0.96
R2102:Spata31f3 UTSW 4 42,868,558 (GRCm39) missense probably benign 0.00
R3824:Spata31f3 UTSW 4 42,873,492 (GRCm39) critical splice donor site probably null
R4192:Spata31f3 UTSW 4 42,874,185 (GRCm39) utr 5 prime probably benign
R4668:Spata31f3 UTSW 4 42,871,608 (GRCm39) missense probably benign 0.00
R4690:Spata31f3 UTSW 4 42,873,032 (GRCm39) splice site probably null
R5743:Spata31f3 UTSW 4 42,873,087 (GRCm39) missense probably damaging 0.99
R5868:Spata31f3 UTSW 4 42,871,711 (GRCm39) missense probably damaging 0.96
R6186:Spata31f3 UTSW 4 42,872,000 (GRCm39) missense possibly damaging 0.95
R6778:Spata31f3 UTSW 4 42,868,522 (GRCm39) missense possibly damaging 0.94
R6986:Spata31f3 UTSW 4 42,868,696 (GRCm39) missense possibly damaging 0.90
R7318:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R7413:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R7675:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R7785:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R7842:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R8125:Spata31f3 UTSW 4 42,873,051 (GRCm39) missense probably damaging 0.99
R8954:Spata31f3 UTSW 4 42,871,753 (GRCm39) missense probably damaging 0.98
R9343:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R9620:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
RF040:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
X0052:Spata31f3 UTSW 4 42,874,047 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- CTGGAACGCATTTGACCCTTG -3'
(R):5'- AAAGACCTCTTCCAGTCTACTGAG -3'

Sequencing Primer
(F):5'- CCTTGAGGTTCCGGCTG -3'
(R):5'- GGCACTCCCGCAGCTTTTC -3'
Posted On 2021-04-30