Incidental Mutation 'IGL02259:Spata31'
ID286677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31
Ensembl Gene ENSMUSG00000056223
Gene Namespermatogenesis associated 31
Synonyms4930458L03Rik, Fam75a, Spata31a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02259
Quality Score
Status
Chromosome13
Chromosomal Location64917406-64923194 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64921483 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 482 (S482P)
Ref Sequence ENSEMBL: ENSMUSP00000097025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070216] [ENSMUST00000221202]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070216
AA Change: S482P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: S482P

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
Pfam:FAM75 149 431 1.7e-83 PFAM
Pfam:FAM75 426 462 4.5e-9 PFAM
low complexity region 478 491 N/A INTRINSIC
low complexity region 544 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221202
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF529169 A T 9: 89,602,359 H328Q possibly damaging Het
Ang6 A G 14: 44,001,906 F122L probably benign Het
Atm A T 9: 53,518,494 probably benign Het
Ccsap G A 8: 123,845,427 T112M possibly damaging Het
Cd63 T C 10: 128,911,974 S113P probably benign Het
Cntnap5c T C 17: 58,034,862 F183L probably damaging Het
Cux1 T A 5: 136,326,833 S321C probably damaging Het
Cyp2ab1 G A 16: 20,313,147 T281I probably damaging Het
Cyp2c40 A C 19: 39,803,802 C233G probably benign Het
Dnah8 T C 17: 30,759,614 I2955T probably benign Het
Drc7 A G 8: 95,056,105 T33A probably benign Het
Gigyf2 T A 1: 87,411,837 Y481N probably damaging Het
Gsap A T 5: 21,186,400 E13V probably benign Het
Ifna4 A G 4: 88,842,056 K66E probably damaging Het
Kif14 T A 1: 136,500,102 M1103K probably benign Het
Kif6 A T 17: 49,895,891 probably benign Het
Lsm14a G T 7: 34,371,133 P113T probably damaging Het
Med12l T A 3: 59,245,843 N1096K probably damaging Het
Med13 C A 11: 86,357,501 G9W possibly damaging Het
Nbr1 G A 11: 101,577,990 A639T probably damaging Het
Nid2 G T 14: 19,768,209 probably null Het
Numa1 A G 7: 101,987,748 D22G possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr62 G A 4: 118,666,437 V307I probably benign Het
Phkg2 A G 7: 127,582,286 probably benign Het
Plcb4 T C 2: 135,910,246 probably null Het
Plch1 C T 3: 63,722,749 probably null Het
Prl8a1 A C 13: 27,582,106 V2G probably benign Het
Prpmp5 A T 6: 132,312,674 D62E unknown Het
Tbc1d4 A G 14: 101,465,730 C760R probably damaging Het
Tgs1 A G 4: 3,604,743 N722D probably damaging Het
Tmcc2 T C 1: 132,361,160 D28G probably benign Het
Zfp457 C T 13: 67,296,407 A11T possibly damaging Het
Zfp879 T C 11: 50,838,428 S48G probably benign Het
Other mutations in Spata31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Spata31 APN 13 64922788 nonsense probably null
IGL01143:Spata31 APN 13 64920816 nonsense probably null
IGL01321:Spata31 APN 13 64921754 missense probably benign 0.01
IGL01624:Spata31 APN 13 64921585 missense probably damaging 1.00
IGL01844:Spata31 APN 13 64921154 missense possibly damaging 0.49
IGL02358:Spata31 APN 13 64921218 missense probably benign
IGL02377:Spata31 APN 13 64920380 missense probably damaging 0.98
IGL02723:Spata31 APN 13 64920649 missense probably benign 0.10
IGL03125:Spata31 APN 13 64920889 missense probably benign 0.09
IGL03343:Spata31 APN 13 64919773 missense probably benign 0.41
F5770:Spata31 UTSW 13 64921648 missense probably benign 0.18
IGL02991:Spata31 UTSW 13 64920719 missense probably benign 0.05
P0043:Spata31 UTSW 13 64921006 unclassified probably null
PIT4366001:Spata31 UTSW 13 64921505 nonsense probably null
PIT4458001:Spata31 UTSW 13 64921850 missense probably benign 0.01
PIT4687001:Spata31 UTSW 13 64921337 missense probably benign 0.02
R0042:Spata31 UTSW 13 64922563 missense probably benign 0.00
R0042:Spata31 UTSW 13 64922563 missense probably benign 0.00
R0064:Spata31 UTSW 13 64922098 missense probably damaging 0.98
R0064:Spata31 UTSW 13 64922098 missense probably damaging 0.98
R0639:Spata31 UTSW 13 64922213 missense probably benign 0.02
R1253:Spata31 UTSW 13 64922024 missense probably benign 0.23
R1536:Spata31 UTSW 13 64921382 missense probably damaging 1.00
R1656:Spata31 UTSW 13 64921139 missense probably benign
R1802:Spata31 UTSW 13 64922383 missense probably benign 0.01
R1813:Spata31 UTSW 13 64921798 missense probably benign 0.32
R1916:Spata31 UTSW 13 64922545 nonsense probably null
R1917:Spata31 UTSW 13 64920865 missense possibly damaging 0.92
R1933:Spata31 UTSW 13 64920610 missense probably benign 0.02
R2910:Spata31 UTSW 13 64920436 missense probably benign 0.12
R3750:Spata31 UTSW 13 64921743 missense probably benign 0.01
R3876:Spata31 UTSW 13 64920931 missense probably benign 0.03
R3980:Spata31 UTSW 13 64922654 missense probably benign 0.24
R4056:Spata31 UTSW 13 64921655 missense probably benign 0.00
R4300:Spata31 UTSW 13 64919761 missense probably benign 0.08
R4797:Spata31 UTSW 13 64922742 nonsense probably null
R4997:Spata31 UTSW 13 64919723 missense probably benign 0.00
R5185:Spata31 UTSW 13 64917526 missense possibly damaging 0.93
R5366:Spata31 UTSW 13 64920459 missense probably damaging 0.98
R5539:Spata31 UTSW 13 64922969 missense probably benign 0.00
R5704:Spata31 UTSW 13 64922041 missense probably benign 0.32
R5748:Spata31 UTSW 13 64920313 makesense probably null
R5834:Spata31 UTSW 13 64922666 missense probably benign 0.19
R5926:Spata31 UTSW 13 64920725 missense possibly damaging 0.82
R6476:Spata31 UTSW 13 64917642 missense possibly damaging 0.68
R6603:Spata31 UTSW 13 64922665 missense probably damaging 1.00
R6620:Spata31 UTSW 13 64919757 missense possibly damaging 0.68
R6965:Spata31 UTSW 13 64922834 missense possibly damaging 0.90
R7086:Spata31 UTSW 13 64922229 missense probably benign 0.02
R7140:Spata31 UTSW 13 64921099 missense probably benign
R7396:Spata31 UTSW 13 64920733 missense probably benign
R7545:Spata31 UTSW 13 64922545 nonsense probably null
R7575:Spata31 UTSW 13 64922912 missense unknown
R7607:Spata31 UTSW 13 64921592 missense probably damaging 1.00
R8024:Spata31 UTSW 13 64922804 missense probably benign 0.12
V7580:Spata31 UTSW 13 64921648 missense probably benign 0.18
V7581:Spata31 UTSW 13 64921648 missense probably benign 0.18
V7583:Spata31 UTSW 13 64921648 missense probably benign 0.18
Z1176:Spata31 UTSW 13 64921972 nonsense probably null
Z1177:Spata31 UTSW 13 64921972 nonsense probably null
Posted On2015-04-16