Incidental Mutation 'R7318:Spata31f3'
ID 565633
Institutional Source Beutler Lab
Gene Symbol Spata31f3
Ensembl Gene ENSMUSG00000050141
Gene Name spermatogenesis associated 31 subfamily F member 3
Synonyms BC049635, Fam205c
MMRRC Submission 045414-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7318 (G1)
Quality Score 144.461
Status 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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,111 (GRCm39) L260S probably benign Het
9130230L23Rik A T 5: 66,145,771 (GRCm39) S113R unknown Het
Abcc5 G A 16: 20,211,293 (GRCm39) P557S probably benign Het
Acad11 A G 9: 103,958,466 (GRCm39) T245A probably damaging Het
Acap2 A G 16: 30,946,155 (GRCm39) F263L probably damaging Het
Ankle2 A T 5: 110,385,632 (GRCm39) N327I probably benign Het
Appl1 T C 14: 26,685,617 (GRCm39) E67G probably benign Het
Arfgef3 A T 10: 18,506,211 (GRCm39) C864S possibly damaging Het
Arhgap20 A G 9: 51,751,802 (GRCm39) I418V probably benign Het
Arhgef2 A T 3: 88,539,610 (GRCm39) N102Y probably damaging Het
Car9 G T 4: 43,513,089 (GRCm39) E431D probably damaging Het
Cbfa2t2 T C 2: 154,342,374 (GRCm39) I30T probably benign Het
Cd40 A T 2: 164,904,255 (GRCm39) D34V possibly damaging Het
Chrnb2 T A 3: 89,670,674 (GRCm39) probably null Het
Chsy1 T G 7: 65,759,977 (GRCm39) probably null Het
Cpne6 A G 14: 55,751,751 (GRCm39) T245A possibly damaging Het
Cpsf1 T A 15: 76,481,475 (GRCm39) K1159* probably null Het
Crisp1 T A 17: 40,618,668 (GRCm39) E64D possibly damaging Het
D3Ertd751e A G 3: 41,756,986 (GRCm39) probably null Het
Dennd11 A G 6: 40,386,098 (GRCm39) V333A possibly damaging Het
Dnah7b T A 1: 46,234,532 (GRCm39) L1488Q probably damaging Het
Dnm2 G A 9: 21,416,863 (GRCm39) G799R possibly damaging Het
Elp2 G A 18: 24,739,956 (GRCm39) V61I probably damaging Het
Epb41l3 T C 17: 69,573,135 (GRCm39) L388P Het
Fry A T 5: 150,360,458 (GRCm39) S2035C probably damaging Het
Gas8 T C 8: 124,257,707 (GRCm39) F385L probably benign Het
Ghsr T C 3: 27,426,616 (GRCm39) V224A possibly damaging Het
Gstp2 T A 19: 4,091,065 (GRCm39) R85W probably benign Het
Ighv1-20 T A 12: 114,687,810 (GRCm39) I6F possibly damaging Het
Inpp4b T A 8: 82,798,374 (GRCm39) M854K probably damaging Het
Kif15 A G 9: 122,817,014 (GRCm39) E538G probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lmo3 T A 6: 138,398,363 (GRCm39) probably benign Het
Lyg1 G A 1: 37,988,936 (GRCm39) P95S probably benign Het
Lyst A G 13: 13,932,028 (GRCm39) H3552R probably benign Het
Mtif2 C T 11: 29,490,115 (GRCm39) S385L probably benign Het
Muc4 A T 16: 32,575,710 (GRCm39) I1737F unknown Het
Mug1 T C 6: 121,847,611 (GRCm39) probably null Het
Mx1 G T 16: 97,253,286 (GRCm39) Q350K probably benign Het
Mylk3 G T 8: 86,085,726 (GRCm39) D269E probably benign Het
Myo3a A T 2: 22,448,332 (GRCm39) K974* probably null Het
Nectin4 G T 1: 171,208,031 (GRCm39) R141L probably benign Het
Nlgn2 T C 11: 69,716,795 (GRCm39) H582R probably damaging Het
Or51ab3 T A 7: 103,201,298 (GRCm39) M102K probably damaging Het
Or51e1 T A 7: 102,359,226 (GRCm39) Y253* probably null Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psmd11 C A 11: 80,347,128 (GRCm39) L171I probably benign Het
Rad54l A G 4: 115,967,906 (GRCm39) V152A possibly damaging Het
Ranbp2 T A 10: 58,318,909 (GRCm39) Y2473* probably null Het
Sertad1 T C 7: 27,188,910 (GRCm39) I77T possibly damaging Het
Sesn3 A T 9: 14,219,873 (GRCm39) E87D probably damaging Het
Slc30a5 A T 13: 100,950,477 (GRCm39) S260R probably benign Het
Slc6a12 G A 6: 121,328,972 (GRCm39) G111S probably damaging Het
Slc6a12 T C 6: 121,328,978 (GRCm39) Y113H probably benign Het
Spag17 T G 3: 99,847,299 (GRCm39) M76R probably benign Het
Stard13 G A 5: 150,986,038 (GRCm39) Q491* probably null Het
Synpo2 T C 3: 122,910,968 (GRCm39) S226G probably benign Het
Tada2b G A 5: 36,641,331 (GRCm39) T24I probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Tnnt1 T A 7: 4,513,547 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,340 (GRCm39) I196V probably benign Het
Utp20 T A 10: 88,649,811 (GRCm39) K466N possibly damaging Het
Wdr46 T C 17: 34,160,859 (GRCm39) probably null Het
Zfp287 T A 11: 62,605,104 (GRCm39) Q601L probably damaging Het
Zfp410 T C 12: 84,372,464 (GRCm39) S97P 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
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
R8808:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
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'- TCCTGGAACGCATTTGACCC -3'
(R):5'- AGACCTCTTCCAGTCTACTGAG -3'

Sequencing Primer
(F):5'- AACGCATTTGACCCTTGAGG -3'
(R):5'- GGCACTCCCGCAGCTTTTC -3'
Posted On 2019-06-26