Incidental Mutation 'R6778:Spata31f3'
ID 531364
Institutional Source Beutler Lab
Gene Symbol Spata31f3
Ensembl Gene ENSMUSG00000050141
Gene Name spermatogenesis associated 31 subfamily F member 3
Synonyms BC049635, Fam205c
MMRRC Submission 044894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6778 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 42868004-42874234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42868522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 367 (K367R)
Ref Sequence ENSEMBL: ENSMUSP00000060318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]
AlphaFold Q80YD3
Predicted Effect possibly damaging
Transcript: ENSMUST00000055944
AA Change: K367R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141
AA Change: K367R

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 possibly damaging
Transcript: ENSMUST00000107978
AA Change: K368R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141
AA Change: K368R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T A 10: 61,061,231 (GRCm39) N403Y probably damaging Het
Akap6 A G 12: 53,072,599 (GRCm39) E989G probably damaging Het
Aoc2 A G 11: 101,216,187 (GRCm39) N90S probably damaging Het
Apol9a T C 15: 77,288,533 (GRCm39) Y278C probably benign Het
Casq2 T A 3: 102,035,247 (GRCm39) probably null Het
Ccdc7a T A 8: 129,547,601 (GRCm39) T1284S possibly damaging Het
Dlat A G 9: 50,562,157 (GRCm39) L289P probably damaging Het
Dnah8 C T 17: 30,854,640 (GRCm39) P101S probably benign Het
Dzip3 C A 16: 48,802,446 (GRCm39) A28S probably benign Het
Ffar4 A G 19: 38,102,112 (GRCm39) E249G possibly damaging Het
Fubp3 A T 2: 31,488,685 (GRCm39) K180N possibly damaging Het
Gm7489 T A 15: 53,749,348 (GRCm39) probably benign Het
Ifitm6 A T 7: 140,596,056 (GRCm39) M59K possibly damaging Het
Igkv4-80 A T 6: 68,993,545 (GRCm39) Y115* probably null Het
Igsf21 G T 4: 139,761,959 (GRCm39) R240S probably benign Het
Kank4 A T 4: 98,649,742 (GRCm39) N942K probably benign Het
Man2a1 C A 17: 65,021,630 (GRCm39) T35K possibly damaging Het
Mvk T A 5: 114,590,441 (GRCm39) D193E probably benign Het
Npas2 T A 1: 39,364,381 (GRCm39) M241K possibly damaging Het
Npsr1 T A 9: 24,165,914 (GRCm39) I100N possibly damaging Het
Olfml2b A G 1: 170,472,639 (GRCm39) D50G probably damaging Het
Or10d4c T A 9: 39,558,043 (GRCm39) V7E probably damaging Het
Pcnx1 A G 12: 81,965,645 (GRCm39) D604G probably damaging Het
Pitx2 C T 3: 129,012,392 (GRCm39) P254L probably damaging Het
Rdh10 T C 1: 16,176,408 (GRCm39) F56S probably damaging Het
Rin1 T C 19: 5,104,914 (GRCm39) L647P probably damaging Het
Sgk3 T A 1: 9,956,369 (GRCm39) probably null Het
Sgpp1 A G 12: 75,763,068 (GRCm39) I371T probably benign Het
Slc12a9 T C 5: 137,313,343 (GRCm39) Y872C possibly damaging Het
Syne1 A G 10: 5,052,406 (GRCm39) F7487L probably damaging Het
Tars1 T C 15: 11,389,785 (GRCm39) N375S probably benign Het
Tbc1d31 A G 15: 57,801,425 (GRCm39) Y320C probably damaging Het
Tbl1xr1 T A 3: 22,243,946 (GRCm39) F73L probably benign Het
Tmem145 G A 7: 25,010,801 (GRCm39) V378I probably benign Het
Tmprss11d T C 5: 86,457,209 (GRCm39) H150R probably benign Het
Tnc T G 4: 63,913,835 (GRCm39) I1326L probably benign Het
Trpc7 T C 13: 56,952,500 (GRCm39) Y502C probably damaging Het
Usp32 T C 11: 84,916,512 (GRCm39) I811V probably benign Het
Vmn1r71 C T 7: 10,482,143 (GRCm39) A182T probably benign Het
Wdr47 T A 3: 108,540,412 (GRCm39) N602K 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
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
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'- AAACCAGGACCTTCTGAGAGG -3'
(R):5'- GCCCTCAGAAGCTGAAATGG -3'

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