Incidental Mutation 'R7512:Spata13'
ID 582176
Institutional Source Beutler Lab
Gene Symbol Spata13
Ensembl Gene ENSMUSG00000021990
Gene Name spermatogenesis associated 13
Synonyms ESTM11
MMRRC Submission 045585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7512 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 60871450-61002005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60989226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 964 (L964P)
Ref Sequence ENSEMBL: ENSMUSP00000123928 (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: L964P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: L964P

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: L964P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: L964P

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 probably damaging
Transcript: ENSMUST00000162945
AA Change: L294P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: L294P

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,829,275 (GRCm39) A1395T probably benign Het
Ank3 A G 10: 69,826,691 (GRCm39) K1787E Het
Atg2a C T 19: 6,310,106 (GRCm39) A1763V probably damaging Het
Bdp1 T C 13: 100,187,457 (GRCm39) I1637V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Ccnt2 T A 1: 127,730,031 (GRCm39) S303T possibly damaging Het
Cdh3 C T 8: 107,265,640 (GRCm39) Q228* probably null Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dock2 A C 11: 34,262,542 (GRCm39) C938G possibly damaging Het
Dync1i1 G T 6: 5,969,410 (GRCm39) V412L possibly damaging Het
Eif1ad6 G T 12: 87,668,751 (GRCm39) E128* probably null Het
Entrep2 C T 7: 64,805,918 (GRCm39) A52T probably benign Het
Fam185a G A 5: 21,652,356 (GRCm39) probably null Het
Fcho1 A G 8: 72,169,507 (GRCm39) L133P possibly damaging Het
Galnt12 G A 4: 47,108,406 (GRCm39) R181H possibly damaging Het
Gen1 A G 12: 11,310,977 (GRCm39) V85A possibly damaging Het
Gm12185 A T 11: 48,806,717 (GRCm39) I158K probably benign Het
Gm5624 T C 14: 44,799,312 (GRCm39) R82G Het
Grap2 A C 15: 80,532,754 (GRCm39) N307T probably benign Het
H6pd A G 4: 150,080,405 (GRCm39) F147L probably benign Het
Haspin A T 11: 73,027,418 (GRCm39) I557N probably damaging Het
Hectd4 A T 5: 121,435,172 (GRCm39) K961N possibly damaging Het
Helz2 A G 2: 180,872,647 (GRCm39) M2495T probably benign Het
Helz2 A T 2: 180,877,393 (GRCm39) probably null Het
Impdh1 T C 6: 29,207,168 (GRCm39) I59V probably benign Het
Kcnn1 A T 8: 71,307,293 (GRCm39) L200Q possibly damaging Het
Kif5c T A 2: 49,590,977 (GRCm39) H276Q probably damaging Het
Kntc1 T C 5: 123,929,001 (GRCm39) L1259P probably damaging Het
Krtap4-1 A T 11: 99,518,859 (GRCm39) C50* probably null Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lrrc41 A G 4: 115,950,191 (GRCm39) T535A possibly damaging Het
Ly75 A T 2: 60,164,907 (GRCm39) V757D probably damaging Het
Masp1 C A 16: 23,288,874 (GRCm39) R642L probably damaging Het
Morn3 A G 5: 123,175,343 (GRCm39) probably null Het
Mpl A T 4: 118,306,089 (GRCm39) I384N Het
Mtmr14 C T 6: 113,245,652 (GRCm39) Q409* probably null Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Oit3 T C 10: 59,274,716 (GRCm39) Y28C probably damaging Het
Or2z8 T A 8: 72,812,367 (GRCm39) I281N probably damaging Het
Or4x12-ps1 A G 2: 89,916,040 (GRCm39) I255T possibly damaging Het
Or5ac22 T A 16: 59,135,390 (GRCm39) N127Y probably damaging Het
Pcdh15 T C 10: 74,477,214 (GRCm39) Y186H possibly damaging Het
Pcdhgb1 T A 18: 37,815,418 (GRCm39) D636E probably damaging Het
Pdgfra A T 5: 75,355,675 (GRCm39) R1062* probably null Het
Pds5b T C 5: 150,711,807 (GRCm39) F922L probably damaging Het
Pip5k1c G A 10: 81,150,953 (GRCm39) probably null Het
Ppp2r3d T C 9: 101,052,532 (GRCm39) T226A possibly damaging Het
Ptprh G A 7: 4,574,780 (GRCm39) T413I possibly damaging Het
Rora C A 9: 69,281,367 (GRCm39) D382E probably benign Het
Sacs T A 14: 61,441,879 (GRCm39) N1308K probably benign Het
Sgce C T 6: 4,707,192 (GRCm39) D218N possibly damaging Het
Slc34a3 A T 2: 25,122,253 (GRCm39) probably null Het
Slit1 T C 19: 41,589,074 (GRCm39) Y1471C probably damaging Het
Smarca2 G T 19: 26,661,209 (GRCm39) V935L possibly damaging Het
Smchd1 T C 17: 71,688,364 (GRCm39) N1298S possibly damaging Het
Sort1 T A 3: 108,233,323 (GRCm39) probably null Het
Spata31h1 G A 10: 82,128,469 (GRCm39) L1514F probably benign Het
Trav7-6 C A 14: 53,954,552 (GRCm39) D47E probably benign Het
Ubap2l A G 3: 89,917,803 (GRCm39) F864L unknown Het
Vmn2r102 C T 17: 19,914,363 (GRCm39) P643S probably damaging Het
Zfp112 T A 7: 23,824,604 (GRCm39) C195S possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
IGL03235:Spata13 APN 14 60,989,241 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GACTGATGAGGTTGCCTTCC -3'
(R):5'- TGCTGCCACATTACCATCAC -3'

Sequencing Primer
(F):5'- TTCCCCCTTCCAGCAAGAGG -3'
(R):5'- CCCTCACCAGCATCAGC -3'
Posted On 2019-10-17