Incidental Mutation 'IGL03235:Spata13'
ID 414038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata13
Ensembl Gene ENSMUSG00000021990
Gene Name spermatogenesis associated 13
Synonyms ESTM11
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03235
Quality Score
Status
Chromosome 14
Chromosomal Location 60871450-61002005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60989241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 299 (L299P)
Ref Sequence ENSEMBL: ENSMUSP00000123888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022566] [ENSMUST00000160973] [ENSMUST00000162945]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022566
AA Change: L969P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: L969P

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 probably damaging
Transcript: ENSMUST00000160973
AA Change: L969P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: L969P

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 probably benign
Transcript: ENSMUST00000162131
SMART Domains Protein: ENSMUSP00000124586
Gene: ENSMUSG00000021990

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
low complexity region 47 60 N/A INTRINSIC
low complexity region 80 99 N/A INTRINSIC
SH3 208 263 4.92e-16 SMART
Blast:RhoGEF 302 340 7e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162939
Predicted Effect probably damaging
Transcript: ENSMUST00000162945
AA Change: L299P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: L299P

DomainStartEndE-ValueType
SH3 72 127 4.92e-16 SMART
RhoGEF 166 345 1.22e-58 SMART
PH 378 485 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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,232,210 (GRCm39) N461S probably benign Het
Baz1a A T 12: 54,945,320 (GRCm39) V1345E probably damaging Het
Ccdc60 T A 5: 116,269,205 (GRCm39) M472L probably benign Het
Cenpf C T 1: 189,416,124 (GRCm39) R67K probably damaging Het
Cfap45 A T 1: 172,366,060 (GRCm39) R304S possibly damaging Het
D5Ertd579e T A 5: 36,776,172 (GRCm39) probably benign Het
Eefsec T C 6: 88,353,357 (GRCm39) D104G probably damaging Het
Eif2ak4 A G 2: 118,273,621 (GRCm39) S849G probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glt28d2 A T 3: 85,779,109 (GRCm39) H121Q possibly damaging Het
Hacl1 C T 14: 31,352,995 (GRCm39) W106* probably null Het
Marchf6 A G 15: 31,486,141 (GRCm39) S376P probably damaging Het
Mkrn1 T C 6: 39,378,264 (GRCm39) Y289C probably damaging Het
Msl2 A G 9: 100,977,967 (GRCm39) T114A probably benign Het
Ntrk3 C A 7: 77,842,340 (GRCm39) K829N probably damaging Het
Or4b1d A T 2: 89,969,414 (GRCm39) V23E possibly damaging Het
Pcdhgc5 A T 18: 37,953,151 (GRCm39) I142F probably damaging Het
Pip5kl1 A G 2: 32,468,166 (GRCm39) R153G probably damaging Het
Rgs19 T C 2: 181,331,525 (GRCm39) K93R probably benign Het
Slc36a4 T A 9: 15,634,845 (GRCm39) V129E probably damaging Het
Tle2 T C 10: 81,422,085 (GRCm39) S353P probably benign Het
Trav13d-4 T C 14: 53,995,298 (GRCm39) V84A probably benign Het
Vmn1r8 A T 6: 57,013,746 (GRCm39) K266* probably null Het
Wwtr1 C A 3: 57,384,954 (GRCm39) V255F probably benign Het
Other mutations in Spata13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Spata13 APN 14 60,928,723 (GRCm39) missense probably damaging 1.00
IGL02455:Spata13 APN 14 60,944,163 (GRCm39) missense probably benign 0.01
IGL03189:Spata13 APN 14 60,929,063 (GRCm39) missense possibly damaging 0.71
PIT4378001:Spata13 UTSW 14 60,987,445 (GRCm39) missense probably damaging 1.00
R0278:Spata13 UTSW 14 60,929,537 (GRCm39) missense probably benign 0.02
R0316:Spata13 UTSW 14 60,929,788 (GRCm39) missense probably benign
R0458:Spata13 UTSW 14 60,929,492 (GRCm39) missense probably damaging 0.98
R1546:Spata13 UTSW 14 60,993,857 (GRCm39) missense probably damaging 1.00
R1780:Spata13 UTSW 14 60,929,174 (GRCm39) missense probably damaging 0.96
R1791:Spata13 UTSW 14 60,946,908 (GRCm39) missense probably damaging 1.00
R1970:Spata13 UTSW 14 60,928,912 (GRCm39) missense probably damaging 0.99
R2059:Spata13 UTSW 14 60,997,040 (GRCm39) missense possibly damaging 0.79
R2063:Spata13 UTSW 14 60,998,320 (GRCm39) critical splice acceptor site probably benign
R2068:Spata13 UTSW 14 60,998,320 (GRCm39) critical splice acceptor site probably benign
R2212:Spata13 UTSW 14 60,944,172 (GRCm39) missense probably benign 0.00
R2327:Spata13 UTSW 14 60,947,004 (GRCm39) missense probably damaging 0.98
R3414:Spata13 UTSW 14 60,944,172 (GRCm39) missense probably benign 0.00
R4115:Spata13 UTSW 14 60,929,927 (GRCm39) missense probably damaging 1.00
R4276:Spata13 UTSW 14 60,993,745 (GRCm39) missense probably damaging 1.00
R4289:Spata13 UTSW 14 60,928,523 (GRCm39) missense probably damaging 1.00
R4291:Spata13 UTSW 14 60,947,004 (GRCm39) missense probably damaging 0.98
R4293:Spata13 UTSW 14 60,947,004 (GRCm39) missense probably damaging 0.98
R4294:Spata13 UTSW 14 60,947,004 (GRCm39) missense probably damaging 0.98
R4295:Spata13 UTSW 14 60,947,004 (GRCm39) missense probably damaging 0.98
R4779:Spata13 UTSW 14 60,991,356 (GRCm39) nonsense probably null
R4780:Spata13 UTSW 14 60,991,356 (GRCm39) nonsense probably null
R4838:Spata13 UTSW 14 60,970,628 (GRCm39) missense probably benign 0.17
R4997:Spata13 UTSW 14 60,946,908 (GRCm39) missense probably damaging 1.00
R5066:Spata13 UTSW 14 60,987,538 (GRCm39) missense possibly damaging 0.78
R5399:Spata13 UTSW 14 60,984,990 (GRCm39) missense probably benign 0.00
R5685:Spata13 UTSW 14 60,928,652 (GRCm39) missense probably benign 0.00
R5708:Spata13 UTSW 14 60,929,452 (GRCm39) missense probably damaging 1.00
R5747:Spata13 UTSW 14 60,984,952 (GRCm39) missense probably benign 0.00
R6073:Spata13 UTSW 14 60,987,470 (GRCm39) missense probably damaging 1.00
R6135:Spata13 UTSW 14 60,993,877 (GRCm39) missense probably damaging 0.98
R6233:Spata13 UTSW 14 60,929,456 (GRCm39) missense probably benign 0.06
R6782:Spata13 UTSW 14 60,928,912 (GRCm39) missense probably damaging 0.99
R6873:Spata13 UTSW 14 60,929,406 (GRCm39) missense probably benign
R6958:Spata13 UTSW 14 60,989,300 (GRCm39) missense possibly damaging 0.94
R7105:Spata13 UTSW 14 60,991,319 (GRCm39) missense probably damaging 0.97
R7286:Spata13 UTSW 14 60,993,871 (GRCm39) missense probably damaging 1.00
R7512:Spata13 UTSW 14 60,989,226 (GRCm39) missense probably damaging 1.00
R7565:Spata13 UTSW 14 60,989,298 (GRCm39) missense probably damaging 1.00
R7608:Spata13 UTSW 14 60,929,956 (GRCm39) missense possibly damaging 0.50
R7743:Spata13 UTSW 14 60,993,698 (GRCm39) missense probably damaging 0.99
R7795:Spata13 UTSW 14 60,929,291 (GRCm39) missense possibly damaging 0.92
R7959:Spata13 UTSW 14 60,993,679 (GRCm39) nonsense probably null
R8073:Spata13 UTSW 14 60,928,705 (GRCm39) missense probably damaging 1.00
R8304:Spata13 UTSW 14 60,993,957 (GRCm39) missense possibly damaging 0.77
R8791:Spata13 UTSW 14 60,929,275 (GRCm39) missense probably damaging 1.00
R8889:Spata13 UTSW 14 60,994,030 (GRCm39) missense probably benign 0.00
R8893:Spata13 UTSW 14 60,987,524 (GRCm39) missense probably damaging 1.00
R8987:Spata13 UTSW 14 60,993,896 (GRCm39) missense possibly damaging 0.61
R9513:Spata13 UTSW 14 60,929,849 (GRCm39) missense probably benign 0.01
R9548:Spata13 UTSW 14 60,991,303 (GRCm39) missense possibly damaging 0.94
R9624:Spata13 UTSW 14 60,944,349 (GRCm39) missense probably benign 0.17
R9625:Spata13 UTSW 14 60,944,349 (GRCm39) missense probably benign 0.17
R9626:Spata13 UTSW 14 60,944,349 (GRCm39) missense probably benign 0.17
R9686:Spata13 UTSW 14 60,989,108 (GRCm39) missense probably damaging 1.00
R9723:Spata13 UTSW 14 60,928,498 (GRCm39) missense probably damaging 0.98
R9747:Spata13 UTSW 14 60,929,240 (GRCm39) missense probably benign
R9774:Spata13 UTSW 14 60,944,196 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02