Incidental Mutation 'R9548:Spata13'
ID 720269
Institutional Source Beutler Lab
Gene Symbol Spata13
Ensembl Gene ENSMUSG00000021990
Gene Name spermatogenesis associated 13
Synonyms ESTM11
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9548 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 60871450-61002005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60991303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1019 (K1019E)
Ref Sequence ENSEMBL: ENSMUSP00000123928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022566] [ENSMUST00000160973] [ENSMUST00000162945]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022566
AA Change: K1019E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: K1019E

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 possibly damaging
Transcript: ENSMUST00000160973
AA Change: K1019E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: K1019E

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 benign
Transcript: ENSMUST00000162945
AA Change: K349E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: K349E

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: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfy1 G A 11: 72,641,005 (GRCm39) probably null Het
Arid1b A G 17: 5,385,262 (GRCm39) Y1340C probably damaging Het
Bcl2 C A 1: 106,640,508 (GRCm39) A35S probably benign Het
Brf2 A T 8: 27,614,623 (GRCm39) S188T probably benign Het
Carmil1 C A 13: 24,460,516 (GRCm39) G21V probably damaging Het
Cavin4 T C 4: 48,663,956 (GRCm39) V112A probably benign Het
Cd300lf T C 11: 115,007,858 (GRCm39) E319G probably benign Het
Cd44 A T 2: 102,661,832 (GRCm39) D587E possibly damaging Het
Cfap53 A T 18: 74,438,040 (GRCm39) T239S possibly damaging Het
Cma2 A C 14: 56,211,256 (GRCm39) I239L probably damaging Het
Cnot1 A T 8: 96,482,854 (GRCm39) M733K probably benign Het
Cyp2f2 A G 7: 26,829,170 (GRCm39) D225G probably benign Het
Cyp4f40 G A 17: 32,890,158 (GRCm39) R276H probably benign Het
Cytip A T 2: 58,041,141 (GRCm39) F88L probably damaging Het
Dnaaf2 T C 12: 69,244,776 (GRCm39) N95S probably damaging Het
Dnah5 C A 15: 28,328,025 (GRCm39) T2133K possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Elapor2 G A 5: 9,490,859 (GRCm39) G623D probably damaging Het
Epn2 A T 11: 61,436,988 (GRCm39) S195T probably benign Het
Exoc3 A T 13: 74,330,285 (GRCm39) Y521N possibly damaging Het
Fbxo10 C A 4: 45,058,970 (GRCm39) V256L probably damaging Het
Fis1 A T 5: 136,991,907 (GRCm39) T34S probably benign Het
Gm10309 A T 17: 86,806,161 (GRCm39) C118S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hook1 T A 4: 95,891,808 (GRCm39) V340E probably damaging Het
Ifng C A 10: 118,277,128 (GRCm39) H23Q probably benign Het
Lect2 C T 13: 56,694,660 (GRCm39) E32K probably benign Het
Lrp1 T G 10: 127,388,733 (GRCm39) T3239P probably damaging Het
Lrrc14b T A 13: 74,511,996 (GRCm39) Y28F probably benign Het
Maml3 A T 3: 51,763,791 (GRCm39) V391E possibly damaging Het
Map3k8 C T 18: 4,349,141 (GRCm39) R59H probably benign Het
Med1 G T 11: 98,070,884 (GRCm39) L120I possibly damaging Het
Muc5b C A 7: 141,421,648 (GRCm39) H4349N possibly damaging Het
Myo1h C T 5: 114,499,154 (GRCm39) P110S probably benign Het
Nol10 T G 12: 17,466,144 (GRCm39) I513S possibly damaging Het
Nphs1 C T 7: 30,180,875 (GRCm39) S1093F probably benign Het
Or12e10 A T 2: 87,641,097 (GRCm39) N311I probably damaging Het
Or4b1b T C 2: 90,111,991 (GRCm39) *309W probably null Het
Or56b1b A T 7: 108,164,334 (GRCm39) S223T possibly damaging Het
Or5p72 A T 7: 108,022,416 (GRCm39) T213S possibly damaging Het
Or5w8 A T 2: 87,688,040 (GRCm39) I174F probably damaging Het
Pcdh17 A T 14: 84,685,402 (GRCm39) Y623F possibly damaging Het
Pdzd8 T A 19: 59,289,826 (GRCm39) I525F probably benign Het
Peak1 G T 9: 56,113,917 (GRCm39) Q1675K probably benign Het
Perm1 T C 4: 156,302,290 (GRCm39) V278A probably benign Het
Ppp2r5d G A 17: 46,998,527 (GRCm39) R115C probably damaging Het
Rnf169 A T 7: 99,574,690 (GRCm39) L635Q probably damaging Het
Sacs A G 14: 61,440,692 (GRCm39) T913A probably benign Het
Sh3bp1 A T 15: 78,788,673 (GRCm39) I233F possibly damaging Het
Skint9 T G 4: 112,276,346 (GRCm39) L8F probably benign Het
Slc1a4 A T 11: 20,258,041 (GRCm39) N360K probably damaging Het
Slc22a16 T A 10: 40,460,865 (GRCm39) Y243* probably null Het
Slc22a19 C A 19: 7,659,219 (GRCm39) probably null Het
Smarcal1 T C 1: 72,671,999 (GRCm39) I840T possibly damaging Het
Steap1 A G 5: 5,790,700 (GRCm39) S83P possibly damaging Het
Synj2bp T C 12: 81,551,382 (GRCm39) H78R probably damaging Het
Tcstv7a T A 13: 120,289,924 (GRCm39) I91F probably benign Het
Tjp3 T C 10: 81,113,833 (GRCm39) E475G probably damaging Het
Top3a A G 11: 60,644,768 (GRCm39) V312A probably benign Het
Traip C A 9: 107,833,099 (GRCm39) T45N probably damaging Het
Ttn T C 2: 76,573,691 (GRCm39) Y25734C probably damaging Het
Unc79 T A 12: 102,977,495 (GRCm39) V166D probably damaging Het
Urgcp C A 11: 5,667,622 (GRCm39) V282F possibly damaging Het
Vmn1r184 G A 7: 25,966,734 (GRCm39) S160N probably benign Het
Wdfy3 T C 5: 102,033,059 (GRCm39) D2231G probably damaging Het
Zan C T 5: 137,401,323 (GRCm39) G4132D unknown 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
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
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'- TTACTCAGTGCCTCGTCTAGAC -3'
(R):5'- TTCAGGCTCATCAAAATCCCTC -3'

Sequencing Primer
(F):5'- AGTGCCTCGTCTAGACCATTAG -3'
(R):5'- GGCTCATCAAAATCCCTCCAAGTG -3'
Posted On 2022-07-18