Incidental Mutation 'R7990:Spata17'
ID 651662
Institutional Source Beutler Lab
Gene Symbol Spata17
Ensembl Gene ENSMUSG00000026611
Gene Name spermatogenesis associated 17
Synonyms 4930513F16Rik, 4930504I07Rik, 1700065F16Rik
MMRRC Submission 046031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R7990 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 186776845-186947662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 186872592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 26 (H26L)
Ref Sequence ENSEMBL: ENSMUSP00000139009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027908] [ENSMUST00000110945] [ENSMUST00000183819] [ENSMUST00000183931] [ENSMUST00000183996] [ENSMUST00000184543]
AlphaFold Q9D552
Predicted Effect possibly damaging
Transcript: ENSMUST00000027908
AA Change: H182L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: H182L

DomainStartEndE-ValueType
IQ 47 69 5.27e0 SMART
IQ 70 92 1.77e-2 SMART
IQ 106 128 1.4e1 SMART
coiled coil region 133 174 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110945
AA Change: H182L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106570
Gene: ENSMUSG00000026611
AA Change: H182L

DomainStartEndE-ValueType
IQ 47 69 5.27e0 SMART
IQ 70 92 1.77e-2 SMART
IQ 106 128 1.4e1 SMART
coiled coil region 133 174 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183819
AA Change: H182L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: H182L

DomainStartEndE-ValueType
IQ 47 69 5.27e0 SMART
IQ 70 92 1.77e-2 SMART
IQ 106 128 1.4e1 SMART
coiled coil region 133 174 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183931
AA Change: H73L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
AA Change: H73L

DomainStartEndE-ValueType
low complexity region 39 63 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183996
AA Change: H26L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139073
Gene: ENSMUSG00000026611
AA Change: H26L

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000184543
AA Change: H26L
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,970,549 (GRCm39) V28I probably damaging Het
Abcd4 G T 12: 84,651,162 (GRCm39) probably null Het
Alg2 T C 4: 47,472,308 (GRCm39) T167A probably damaging Het
Asap1 T C 15: 64,044,586 (GRCm39) probably null Het
Atad5 T A 11: 80,024,079 (GRCm39) C1730* probably null Het
Atp8b1 T C 18: 64,671,748 (GRCm39) T1092A possibly damaging Het
C130050O18Rik A G 5: 139,400,672 (GRCm39) T242A probably benign Het
Ccdc88c A G 12: 100,934,244 (GRCm39) V211A probably damaging Het
Ccnl1 A G 3: 65,854,314 (GRCm39) S436P possibly damaging Het
Cgnl1 T C 9: 71,632,547 (GRCm39) E268G probably damaging Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Col6a3 T G 1: 90,709,577 (GRCm39) K2480T unknown Het
Cryba1 T C 11: 77,614,411 (GRCm39) T21A possibly damaging Het
Csn1s1 C T 5: 87,827,912 (GRCm39) A259V possibly damaging Het
Dap3 A C 3: 88,835,814 (GRCm39) Y206* probably null Het
Etnppl T C 3: 130,424,308 (GRCm39) I360T possibly damaging Het
Gal3st3 A T 19: 5,352,617 (GRCm39) M15L probably benign Het
Gdf5 A G 2: 155,783,749 (GRCm39) V401A probably damaging Het
Gm1110 A G 9: 26,792,137 (GRCm39) S628P possibly damaging Het
Gm9493 A T 19: 23,597,397 (GRCm39) I98F possibly damaging Het
Grin2a T C 16: 9,397,040 (GRCm39) K1016E possibly damaging Het
Hdac9 T C 12: 34,265,452 (GRCm39) N850D probably benign Het
Itsn2 C A 12: 4,685,629 (GRCm39) L466I unknown Het
Jkampl T C 6: 73,446,528 (GRCm39) Y7C probably damaging Het
Kcnj16 C A 11: 110,915,886 (GRCm39) R183S probably damaging Het
Kcnk2 A C 1: 188,942,102 (GRCm39) L389R probably damaging Het
Kdm4c A C 4: 74,309,685 (GRCm39) K949N probably damaging Het
Kif3b G A 2: 153,159,383 (GRCm39) E395K probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Map3k1 A T 13: 111,892,696 (GRCm39) M853K probably benign Het
Metap1 T G 3: 138,186,526 (GRCm39) T68P probably benign Het
Mfsd11 T C 11: 116,750,323 (GRCm39) V114A possibly damaging Het
Mroh1 G A 15: 76,336,475 (GRCm39) R1566H probably damaging Het
Msh4 A T 3: 153,602,529 (GRCm39) M233K probably damaging Het
Ncor1 T G 11: 62,240,321 (GRCm39) probably null Het
Npl A T 1: 153,413,230 (GRCm39) V29D possibly damaging Het
Or1e29 C T 11: 73,667,497 (GRCm39) V219I probably benign Het
Osmr T C 15: 6,881,948 (GRCm39) I65M possibly damaging Het
Rabepk C T 2: 34,670,720 (GRCm39) V247I probably benign Het
Rere C T 4: 150,699,327 (GRCm39) P804S unknown Het
Rpgrip1 A T 14: 52,366,975 (GRCm39) Y265F possibly damaging Het
Slc10a1 T C 12: 81,000,554 (GRCm39) D315G probably benign Het
Smc5 A T 19: 23,213,246 (GRCm39) N555K probably benign Het
Sphkap C T 1: 83,245,066 (GRCm39) D1518N probably damaging Het
Sult2a6 A T 7: 13,959,795 (GRCm39) M246K possibly damaging Het
Tmx2 A G 2: 84,506,480 (GRCm39) F71L probably damaging Het
Ush2a T A 1: 188,274,996 (GRCm39) L1823Q probably benign Het
Virma T A 4: 11,513,983 (GRCm39) D612E probably benign Het
Wdfy4 A T 14: 32,819,752 (GRCm39) L1484Q Het
Zan A G 5: 137,391,352 (GRCm39) S4711P unknown Het
Zdhhc1 A G 8: 106,203,001 (GRCm39) probably null Het
Zfp971 C T 2: 177,675,361 (GRCm39) T320I probably damaging Het
Other mutations in Spata17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Spata17 APN 1 186,849,536 (GRCm39) missense probably benign 0.34
IGL02101:Spata17 APN 1 186,849,657 (GRCm39) missense probably benign 0.40
IGL02268:Spata17 APN 1 186,872,595 (GRCm39) missense probably damaging 0.97
IGL02406:Spata17 APN 1 186,849,458 (GRCm39) critical splice donor site probably null
IGL02429:Spata17 APN 1 186,872,631 (GRCm39) missense possibly damaging 0.66
IGL03333:Spata17 APN 1 186,872,667 (GRCm39) start codon destroyed probably null
R0147:Spata17 UTSW 1 186,844,798 (GRCm39) missense probably damaging 1.00
R0148:Spata17 UTSW 1 186,844,798 (GRCm39) missense probably damaging 1.00
R0269:Spata17 UTSW 1 186,830,069 (GRCm39) missense probably benign 0.02
R1521:Spata17 UTSW 1 186,926,191 (GRCm39) missense probably damaging 0.96
R1620:Spata17 UTSW 1 186,915,412 (GRCm39) intron probably benign
R2017:Spata17 UTSW 1 186,780,650 (GRCm39) missense possibly damaging 0.73
R2113:Spata17 UTSW 1 186,830,108 (GRCm39) missense possibly damaging 0.93
R2251:Spata17 UTSW 1 186,780,670 (GRCm39) missense possibly damaging 0.96
R4260:Spata17 UTSW 1 186,780,677 (GRCm39) missense possibly damaging 0.53
R4572:Spata17 UTSW 1 186,926,193 (GRCm39) missense possibly damaging 0.91
R4894:Spata17 UTSW 1 186,872,643 (GRCm39) missense probably benign 0.00
R4910:Spata17 UTSW 1 186,926,208 (GRCm39) missense probably damaging 0.98
R6277:Spata17 UTSW 1 186,926,151 (GRCm39) nonsense probably null
R7200:Spata17 UTSW 1 186,844,700 (GRCm39) missense probably benign 0.00
R7621:Spata17 UTSW 1 186,854,833 (GRCm39) splice site probably null
R7735:Spata17 UTSW 1 186,872,577 (GRCm39) missense unknown
R8115:Spata17 UTSW 1 186,849,653 (GRCm39) missense probably damaging 1.00
R8833:Spata17 UTSW 1 186,915,436 (GRCm39) missense probably damaging 1.00
R9288:Spata17 UTSW 1 186,844,756 (GRCm39) missense possibly damaging 0.85
R9481:Spata17 UTSW 1 186,844,756 (GRCm39) missense possibly damaging 0.85
R9588:Spata17 UTSW 1 186,849,471 (GRCm39) missense possibly damaging 0.91
V7732:Spata17 UTSW 1 186,780,677 (GRCm39) missense possibly damaging 0.53
X0027:Spata17 UTSW 1 186,926,156 (GRCm39) missense probably damaging 0.97
Z1177:Spata17 UTSW 1 186,872,626 (GRCm39) nonsense probably null
Z1177:Spata17 UTSW 1 186,849,525 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- CACTGTCACAGGCCAATCATG -3'
(R):5'- ATGTGCCTGATCATTGCCC -3'

Sequencing Primer
(F):5'- CCAATCATGGCGCCTGC -3'
(R):5'- GCGAATCAACAGATGCCA -3'
Posted On 2020-09-15