Incidental Mutation 'IGL03189:Spata13'
ID412588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata13
Ensembl Gene ENSMUSG00000021990
Gene Namespermatogenesis associated 13
SynonymsESTM11
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03189
Quality Score
Status
Chromosome14
Chromosomal Location60634001-60764556 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60691614 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 207 (I207T)
Ref Sequence ENSEMBL: ENSMUSP00000123928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022566] [ENSMUST00000159169] [ENSMUST00000159729] [ENSMUST00000160973]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022566
AA Change: I207T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: I207T

DomainStartEndE-ValueType
low complexity region 307 320 N/A INTRINSIC
low complexity region 354 370 N/A INTRINSIC
low complexity region 426 450 N/A INTRINSIC
low complexity region 453 462 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
low complexity region 571 584 N/A INTRINSIC
low complexity region 604 623 N/A INTRINSIC
SH3 742 797 4.92e-16 SMART
RhoGEF 836 1015 1.22e-58 SMART
PH 1048 1155 1.16e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159135
Predicted Effect probably benign
Transcript: ENSMUST00000159169
Predicted Effect probably benign
Transcript: ENSMUST00000159729
Predicted Effect probably benign
Transcript: ENSMUST00000160095
SMART Domains Protein: ENSMUSP00000123744
Gene: ENSMUSG00000021990

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
low complexity region 100 124 N/A INTRINSIC
low complexity region 127 136 N/A INTRINSIC
low complexity region 186 201 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000160973
AA Change: I207T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: I207T

DomainStartEndE-ValueType
low complexity region 307 320 N/A INTRINSIC
low complexity region 354 370 N/A INTRINSIC
low complexity region 426 450 N/A INTRINSIC
low complexity region 453 462 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
low complexity region 571 584 N/A INTRINSIC
low complexity region 604 623 N/A INTRINSIC
SH3 742 797 4.92e-16 SMART
RhoGEF 836 1015 1.22e-58 SMART
PH 1048 1155 1.16e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal but show a significant reduction in the number and size of intestinal adenomas in conjunction with ApcMin heterozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Spata13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Spata13 APN 14 60691274 missense probably damaging 1.00
IGL02455:Spata13 APN 14 60706714 missense probably benign 0.01
IGL03235:Spata13 APN 14 60751792 missense probably damaging 1.00
PIT4378001:Spata13 UTSW 14 60749996 missense probably damaging 1.00
R0278:Spata13 UTSW 14 60692088 missense probably benign 0.02
R0316:Spata13 UTSW 14 60692339 missense probably benign
R0458:Spata13 UTSW 14 60692043 missense probably damaging 0.98
R1546:Spata13 UTSW 14 60756408 missense probably damaging 1.00
R1780:Spata13 UTSW 14 60691725 missense probably damaging 0.96
R1791:Spata13 UTSW 14 60709459 missense probably damaging 1.00
R1970:Spata13 UTSW 14 60691463 missense probably damaging 0.99
R2059:Spata13 UTSW 14 60759591 missense possibly damaging 0.79
R2063:Spata13 UTSW 14 60760871 critical splice acceptor site probably benign
R2068:Spata13 UTSW 14 60760871 critical splice acceptor site probably benign
R2212:Spata13 UTSW 14 60706723 missense probably benign 0.00
R2327:Spata13 UTSW 14 60709555 missense probably damaging 0.98
R3414:Spata13 UTSW 14 60706723 missense probably benign 0.00
R4115:Spata13 UTSW 14 60692478 missense probably damaging 1.00
R4276:Spata13 UTSW 14 60756296 missense probably damaging 1.00
R4289:Spata13 UTSW 14 60691074 missense probably damaging 1.00
R4291:Spata13 UTSW 14 60709555 missense probably damaging 0.98
R4293:Spata13 UTSW 14 60709555 missense probably damaging 0.98
R4294:Spata13 UTSW 14 60709555 missense probably damaging 0.98
R4295:Spata13 UTSW 14 60709555 missense probably damaging 0.98
R4779:Spata13 UTSW 14 60753907 nonsense probably null
R4780:Spata13 UTSW 14 60753907 nonsense probably null
R4838:Spata13 UTSW 14 60733179 missense probably benign 0.17
R4997:Spata13 UTSW 14 60709459 missense probably damaging 1.00
R5066:Spata13 UTSW 14 60750089 missense possibly damaging 0.78
R5399:Spata13 UTSW 14 60747541 missense probably benign 0.00
R5685:Spata13 UTSW 14 60691203 missense probably benign 0.00
R5708:Spata13 UTSW 14 60692003 missense probably damaging 1.00
R5747:Spata13 UTSW 14 60747503 missense probably benign 0.00
R6073:Spata13 UTSW 14 60750021 missense probably damaging 1.00
R6135:Spata13 UTSW 14 60756428 missense probably damaging 0.98
R6233:Spata13 UTSW 14 60692007 missense probably benign 0.06
R6782:Spata13 UTSW 14 60691463 missense probably damaging 0.99
R6873:Spata13 UTSW 14 60691957 missense probably benign
R6958:Spata13 UTSW 14 60751851 missense possibly damaging 0.94
R7105:Spata13 UTSW 14 60753870 missense probably damaging 0.97
R7286:Spata13 UTSW 14 60756422 missense probably damaging 1.00
R7512:Spata13 UTSW 14 60751777 missense probably damaging 1.00
R7565:Spata13 UTSW 14 60751849 missense probably damaging 1.00
R7608:Spata13 UTSW 14 60692507 missense possibly damaging 0.50
R7743:Spata13 UTSW 14 60756249 missense probably damaging 0.99
R7795:Spata13 UTSW 14 60691842 missense possibly damaging 0.92
R7959:Spata13 UTSW 14 60756230 nonsense probably null
R8073:Spata13 UTSW 14 60691256 missense probably damaging 1.00
R8304:Spata13 UTSW 14 60756508 missense possibly damaging 0.77
Posted On2016-08-02