Incidental Mutation 'IGL02715:Spata31d1a'
ID304708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31d1a
Ensembl Gene ENSMUSG00000050876
Gene Namespermatogenesis associated 31 subfamily D, member 1A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02715
Quality Score
Status
Chromosome13
Chromosomal Location59699806-59710330 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59703735 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 193 (D193G)
Ref Sequence ENSEMBL: ENSMUSP00000152919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]
Predicted Effect probably benign
Transcript: ENSMUST00000066510
AA Change: D193G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: D193G

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:DUF4599 66 150 3.7e-25 PFAM
low complexity region 196 217 N/A INTRINSIC
low complexity region 240 266 N/A INTRINSIC
Pfam:FAM75 400 772 2.9e-108 PFAM
low complexity region 1144 1154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224469
Predicted Effect probably benign
Transcript: ENSMUST00000224982
AA Change: D193G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225362
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,198,888 I57V probably damaging Het
Abce1 T A 8: 79,690,361 E340D probably damaging Het
Agbl2 C T 2: 90,805,868 R583W probably damaging Het
Aig1 A G 10: 13,868,616 probably null Het
Brd3 C A 2: 27,454,483 A412S possibly damaging Het
C3 A G 17: 57,204,158 probably benign Het
Ccdc127 A G 13: 74,356,774 E147G probably benign Het
Chrna4 A G 2: 181,029,581 probably benign Het
Cnn2 T C 10: 79,993,489 L151P probably damaging Het
Col11a1 G T 3: 114,129,409 M7I probably benign Het
Fam173b A G 15: 31,606,003 T36A probably benign Het
Fastkd1 A G 2: 69,712,125 probably null Het
Fcho2 A G 13: 98,796,335 M53T probably damaging Het
Fmnl2 T C 2: 53,072,210 Y236H possibly damaging Het
G6bos A G 17: 35,065,561 probably null Het
Gm5483 T C 16: 36,187,945 I67T possibly damaging Het
Gramd1a C T 7: 31,135,854 G436D probably damaging Het
Hivep2 A G 10: 14,131,387 Y1243C probably benign Het
Lrit2 A G 14: 37,072,548 D523G probably benign Het
Lrrc2 A C 9: 110,970,114 D177A probably damaging Het
Lyst T A 13: 13,674,320 probably null Het
Mrgpra6 A T 7: 47,188,648 probably benign Het
Myh6 T C 14: 54,946,908 probably benign Het
Myzap C A 9: 71,515,115 E392* probably null Het
Ndst3 G A 3: 123,546,761 probably benign Het
Nlrc5 C A 8: 94,474,668 P130H probably damaging Het
Obscn T C 11: 59,080,311 T2526A probably benign Het
Olfr385 T A 11: 73,589,121 I206F probably benign Het
Pcnt C A 10: 76,368,722 probably benign Het
Pfpl T A 19: 12,429,781 C465* probably null Het
Pkd1l3 T A 8: 109,626,826 C680S probably damaging Het
Ppp1r10 G T 17: 35,930,712 G793V unknown Het
Prss27 A T 17: 24,044,979 D213V possibly damaging Het
Sh2d5 T C 4: 138,256,707 probably benign Het
Sptan1 T C 2: 29,978,576 V66A probably benign Het
Synpr T C 14: 13,608,618 S133P probably damaging Het
Tagln3 T C 16: 45,724,225 N28D probably benign Het
Tfrc A G 16: 32,624,371 T494A probably benign Het
Tmem38a T C 8: 72,579,668 I77T possibly damaging Het
Tmem42 C A 9: 123,022,230 T86N probably damaging Het
Ttc8 T A 12: 98,943,920 probably benign Het
Tub G A 7: 109,029,310 V342I probably benign Het
Vmn2r103 A T 17: 19,793,956 I337F probably damaging Het
Xkr7 A G 2: 153,054,357 E377G probably damaging Het
Zfp292 C T 4: 34,819,542 G260D probably damaging Het
Other mutations in Spata31d1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Spata31d1a APN 13 59702185 missense probably benign 0.27
IGL01397:Spata31d1a APN 13 59701738 missense probably damaging 0.99
IGL01448:Spata31d1a APN 13 59701559 missense probably benign 0.06
IGL02983:Spata31d1a APN 13 59703694 missense possibly damaging 0.65
IGL03224:Spata31d1a APN 13 59701026 missense possibly damaging 0.85
PIT1430001:Spata31d1a UTSW 13 59701196 missense probably benign
R0302:Spata31d1a UTSW 13 59703150 missense probably benign
R0387:Spata31d1a UTSW 13 59703501 missense probably damaging 0.99
R0464:Spata31d1a UTSW 13 59701759 missense possibly damaging 0.85
R0606:Spata31d1a UTSW 13 59702431 missense probably benign 0.03
R0617:Spata31d1a UTSW 13 59702259 missense possibly damaging 0.53
R0691:Spata31d1a UTSW 13 59700385 missense possibly damaging 0.93
R0746:Spata31d1a UTSW 13 59702263 missense possibly damaging 0.95
R1019:Spata31d1a UTSW 13 59702368 missense probably benign
R1397:Spata31d1a UTSW 13 59705039 splice site probably benign
R1543:Spata31d1a UTSW 13 59702242 missense probably benign
R1619:Spata31d1a UTSW 13 59702433 nonsense probably null
R1799:Spata31d1a UTSW 13 59703402 missense probably benign
R1820:Spata31d1a UTSW 13 59701255 missense possibly damaging 0.86
R1885:Spata31d1a UTSW 13 59702007 missense probably damaging 0.99
R1909:Spata31d1a UTSW 13 59702695 missense probably damaging 0.99
R2012:Spata31d1a UTSW 13 59702556 missense possibly damaging 0.93
R2099:Spata31d1a UTSW 13 59706071 missense probably damaging 0.97
R2132:Spata31d1a UTSW 13 59701043 missense probably damaging 0.96
R2224:Spata31d1a UTSW 13 59703715 missense probably benign
R2225:Spata31d1a UTSW 13 59703715 missense probably benign
R2226:Spata31d1a UTSW 13 59703715 missense probably benign
R2358:Spata31d1a UTSW 13 59703888 missense probably benign 0.00
R2495:Spata31d1a UTSW 13 59701993 missense possibly damaging 0.93
R3081:Spata31d1a UTSW 13 59703093 missense probably benign 0.15
R3151:Spata31d1a UTSW 13 59701366 missense probably benign 0.06
R3971:Spata31d1a UTSW 13 59702157 missense possibly damaging 0.85
R4156:Spata31d1a UTSW 13 59705047 missense possibly damaging 0.92
R4760:Spata31d1a UTSW 13 59701645 missense probably damaging 1.00
R4767:Spata31d1a UTSW 13 59701155 missense probably benign 0.03
R4877:Spata31d1a UTSW 13 59702523 missense probably damaging 0.99
R4894:Spata31d1a UTSW 13 59701728 missense probably damaging 0.98
R4961:Spata31d1a UTSW 13 59701902 missense possibly damaging 0.86
R4990:Spata31d1a UTSW 13 59703151 missense probably benign 0.00
R4991:Spata31d1a UTSW 13 59703151 missense probably benign 0.00
R4992:Spata31d1a UTSW 13 59703151 missense probably benign 0.00
R5088:Spata31d1a UTSW 13 59701152 unclassified probably null
R5094:Spata31d1a UTSW 13 59705044 critical splice donor site probably null
R5330:Spata31d1a UTSW 13 59700403 missense possibly damaging 0.86
R5587:Spata31d1a UTSW 13 59702618 missense probably damaging 0.96
R5832:Spata31d1a UTSW 13 59701566 missense probably damaging 0.98
R6073:Spata31d1a UTSW 13 59702994 missense probably damaging 0.98
R6208:Spata31d1a UTSW 13 59700564 missense probably damaging 0.98
R6224:Spata31d1a UTSW 13 59706320 start gained probably benign
R6250:Spata31d1a UTSW 13 59701801 missense possibly damaging 0.93
R6359:Spata31d1a UTSW 13 59703106 missense probably benign
R6806:Spata31d1a UTSW 13 59703218 missense probably benign
R6848:Spata31d1a UTSW 13 59701963 missense possibly damaging 0.91
R6851:Spata31d1a UTSW 13 59703911 missense unknown
R6985:Spata31d1a UTSW 13 59703093 missense probably benign 0.15
R7007:Spata31d1a UTSW 13 59703634 missense probably benign
R7037:Spata31d1a UTSW 13 59700324 missense possibly damaging 0.96
R7124:Spata31d1a UTSW 13 59702487 missense not run
Posted On2015-04-16