Incidental Mutation 'R0763:Spata31f1a'
ID 72496
Institutional Source Beutler Lab
Gene Symbol Spata31f1a
Ensembl Gene ENSMUSG00000078721
Gene Name spermatogenesis associated 31 subfamily F member 1A
Synonyms Fam205a1, Gm12429
MMRRC Submission 038943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0763 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 42848071-42853888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42851238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 306 (V306A)
Ref Sequence ENSEMBL: ENSMUSP00000103613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107979] [ENSMUST00000107981] [ENSMUST00000107984]
AlphaFold D3YZF6
Predicted Effect probably damaging
Transcript: ENSMUST00000107979
AA Change: V306A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: V306A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 52 137 5e-26 PFAM
low complexity region 169 179 N/A INTRINSIC
internal_repeat_1 278 314 8.5e-5 PROSPERO
Pfam:FAM75 409 493 4.3e-10 PFAM
Pfam:FAM75 453 628 1.2e-12 PFAM
low complexity region 1160 1172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107981
SMART Domains Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

DomainStartEndE-ValueType
Pfam:DUF4599 1 56 1.4e-15 PFAM
low complexity region 87 104 N/A INTRINSIC
Pfam:FAM75 157 279 9.4e-9 PFAM
Pfam:FAM75 322 366 6.1e-10 PFAM
Pfam:FAM75 365 543 8.3e-11 PFAM
low complexity region 882 895 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107984
SMART Domains Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,815,261 (GRCm39) F290V probably damaging Het
Adam26b G A 8: 43,973,601 (GRCm39) S467L probably damaging Het
Adgrv1 T A 13: 81,647,244 (GRCm39) I3099F probably damaging Het
Akap6 A G 12: 53,188,997 (GRCm39) D2137G possibly damaging Het
Arhgdig T C 17: 26,419,275 (GRCm39) Y48C probably damaging Het
Astn1 A G 1: 158,337,460 (GRCm39) I389V possibly damaging Het
Atp8a1 T C 5: 67,817,226 (GRCm39) D920G probably benign Het
BC016579 T A 16: 45,449,818 (GRCm39) N200I probably damaging Het
Casc3 T C 11: 98,722,144 (GRCm39) Y661H probably damaging Het
Cep120 A C 18: 53,854,809 (GRCm39) V442G probably benign Het
Cfap65 A G 1: 74,943,841 (GRCm39) Y1557H probably damaging Het
Chd2 G T 7: 73,097,022 (GRCm39) Q1485K possibly damaging Het
Cntrl T C 2: 35,061,078 (GRCm39) F1967L probably benign Het
Csmd1 G A 8: 17,077,300 (GRCm39) T119M possibly damaging Het
Dnah9 T C 11: 66,046,356 (GRCm39) H64R probably benign Het
Ep400 T C 5: 110,813,703 (GRCm39) R2899G probably damaging Het
Foxl2 A C 9: 98,838,086 (GRCm39) T125P probably damaging Het
Foxred1 A T 9: 35,118,769 (GRCm39) probably null Het
H2-Eb1 T A 17: 34,533,133 (GRCm39) probably benign Het
Heatr3 T C 8: 88,884,869 (GRCm39) S378P probably damaging Het
Hectd4 T C 5: 121,445,096 (GRCm39) probably benign Het
Hps3 T G 3: 20,057,443 (GRCm39) R780S probably damaging Het
Ifi44 G A 3: 151,455,135 (GRCm39) A30V probably damaging Het
Il12rb1 G A 8: 71,265,934 (GRCm39) probably benign Het
Invs G A 4: 48,392,628 (GRCm39) G281R possibly damaging Het
Itgax C A 7: 127,747,112 (GRCm39) probably benign Het
Jade1 G T 3: 41,568,218 (GRCm39) C762F possibly damaging Het
Lama1 C T 17: 68,079,813 (GRCm39) P1229S probably damaging Het
Mmp15 C A 8: 96,094,856 (GRCm39) D243E probably benign Het
Mug2 A G 6: 122,052,253 (GRCm39) T1004A probably benign Het
Myh14 A T 7: 44,314,791 (GRCm39) V44E probably damaging Het
N4bp2l1 C A 5: 150,517,869 (GRCm39) R11S possibly damaging Het
Notch4 T A 17: 34,784,306 (GRCm39) C36* probably null Het
Nwd1 A G 8: 73,397,672 (GRCm39) D637G probably damaging Het
Ogfod1 T C 8: 94,782,264 (GRCm39) I238T probably benign Het
Pakap G A 4: 57,688,441 (GRCm39) E95K probably damaging Het
Papln A G 12: 83,838,639 (GRCm39) D1256G possibly damaging Het
Ppp1r26 T C 2: 28,340,379 (GRCm39) L3P probably damaging Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Slc17a5 A T 9: 78,460,372 (GRCm39) probably benign Het
Slc25a17 A G 15: 81,207,907 (GRCm39) probably benign Het
Socs4 T C 14: 47,528,112 (GRCm39) F349S probably damaging Het
Tchhl1 A C 3: 93,378,878 (GRCm39) E527D probably benign Het
Tm7sf3 A G 6: 146,507,787 (GRCm39) L425S possibly damaging Het
Tmem266 G T 9: 55,322,239 (GRCm39) V112L probably damaging Het
Tmem30c T A 16: 57,090,539 (GRCm39) I223F possibly damaging Het
Tomm70a G A 16: 56,942,535 (GRCm39) G104D probably benign Het
Ttc17 G T 2: 94,163,148 (GRCm39) A834E probably benign Het
Ttn C T 2: 76,561,534 (GRCm39) V20664M probably damaging Het
Zbed5 T C 5: 129,931,020 (GRCm39) V323A probably benign Het
Other mutations in Spata31f1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Spata31f1a APN 4 42,850,963 (GRCm39) missense probably benign 0.04
IGL01369:Spata31f1a APN 4 42,852,548 (GRCm39) splice site probably null
IGL02737:Spata31f1a APN 4 42,849,431 (GRCm39) missense possibly damaging 0.90
IGL02951:Spata31f1a APN 4 42,850,696 (GRCm39) missense probably benign 0.03
IGL03190:Spata31f1a APN 4 42,848,362 (GRCm39) missense probably benign 0.20
IGL03407:Spata31f1a APN 4 42,850,528 (GRCm39) missense probably benign 0.00
R0285:Spata31f1a UTSW 4 42,850,236 (GRCm39) missense probably benign 0.00
R0345:Spata31f1a UTSW 4 42,851,116 (GRCm39) missense probably benign 0.00
R0373:Spata31f1a UTSW 4 42,851,161 (GRCm39) missense probably benign 0.00
R1668:Spata31f1a UTSW 4 42,848,424 (GRCm39) missense probably damaging 0.99
R2406:Spata31f1a UTSW 4 42,851,696 (GRCm39) missense probably benign
R3722:Spata31f1a UTSW 4 42,851,472 (GRCm39) missense probably benign 0.01
R4820:Spata31f1a UTSW 4 42,851,815 (GRCm39) missense probably damaging 1.00
R5168:Spata31f1a UTSW 4 42,851,488 (GRCm39) missense probably damaging 0.99
R6170:Spata31f1a UTSW 4 42,849,345 (GRCm39) missense probably benign 0.00
R6249:Spata31f1a UTSW 4 42,850,528 (GRCm39) missense probably benign 0.00
R6357:Spata31f1a UTSW 4 42,850,393 (GRCm39) missense probably damaging 1.00
R6496:Spata31f1a UTSW 4 42,848,424 (GRCm39) missense probably damaging 0.99
R6894:Spata31f1a UTSW 4 42,850,291 (GRCm39) missense probably benign 0.33
R7079:Spata31f1a UTSW 4 42,851,718 (GRCm39) missense probably benign 0.17
R7881:Spata31f1a UTSW 4 42,851,586 (GRCm39) missense probably benign 0.00
R7904:Spata31f1a UTSW 4 42,850,765 (GRCm39) missense possibly damaging 0.53
R7938:Spata31f1a UTSW 4 42,850,765 (GRCm39) missense possibly damaging 0.53
R8017:Spata31f1a UTSW 4 42,850,840 (GRCm39) missense probably damaging 1.00
R8210:Spata31f1a UTSW 4 42,848,542 (GRCm39) missense probably benign 0.00
R8385:Spata31f1a UTSW 4 42,850,509 (GRCm39) missense possibly damaging 0.80
R8894:Spata31f1a UTSW 4 42,853,688 (GRCm39) missense possibly damaging 0.87
R8981:Spata31f1a UTSW 4 42,849,354 (GRCm39) missense probably benign 0.00
R9448:Spata31f1a UTSW 4 42,850,250 (GRCm39) nonsense probably null
R9488:Spata31f1a UTSW 4 42,850,560 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCCTTGGTCACCACTAGACCAC -3'
(R):5'- GCTCCAAGACCATGAGGCATTGAAC -3'

Sequencing Primer
(F):5'- AACCCAAAAGGTCTGGATAGGTTG -3'
(R):5'- GGCATTGAACTCACAGGTTCC -3'
Posted On 2013-09-30