Incidental Mutation 'R5396:Spata6l'
ID 429717
Institutional Source Beutler Lab
Gene Symbol Spata6l
Ensembl Gene ENSMUSG00000064202
Gene Name spermatogenesis associated 6 like
Synonyms 4430402I18Rik
MMRRC Submission 044394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R5396 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 28899836-28945289 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28905089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 325 (H325R)
Ref Sequence ENSEMBL: ENSMUSP00000132800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000160542] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]
AlphaFold B2RV46
Predicted Effect probably benign
Transcript: ENSMUST00000025872
AA Change: H339R

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202
AA Change: H339R

DomainStartEndE-ValueType
Pfam:SPATA6 1 91 1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159655
Predicted Effect possibly damaging
Transcript: ENSMUST00000160542
AA Change: H322R

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202
AA Change: H322R

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162110
AA Change: H393R

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202
AA Change: H393R

DomainStartEndE-ValueType
Pfam:SPATA6 7 145 7.7e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164777
AA Change: H325R

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202
AA Change: H325R

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175647
SMART Domains Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
Pfam:SPATA6 6 78 4.5e-22 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T C 2: 127,028,873 (GRCm39) T109A probably damaging Het
A430005L14Rik GCC G 4: 154,045,410 (GRCm39) probably null Het
Actr1a T C 19: 46,384,103 (GRCm39) D5G possibly damaging Het
Adra2c A G 5: 35,438,217 (GRCm39) T330A probably benign Het
Ahcyl2 C T 6: 29,859,697 (GRCm39) probably benign Het
Ahnak T C 19: 8,984,539 (GRCm39) V1941A probably damaging Het
Akr1b7 G A 6: 34,389,411 (GRCm39) probably null Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ank2 A G 3: 126,746,875 (GRCm39) V570A probably damaging Het
Ano4 T C 10: 88,948,702 (GRCm39) E302G probably damaging Het
Bop1 A T 15: 76,339,489 (GRCm39) H285Q probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Catsperb A T 12: 101,560,543 (GRCm39) I845L possibly damaging Het
Ccdc28b G T 4: 129,513,238 (GRCm39) Q184K probably damaging Het
Cd101 A G 3: 100,926,126 (GRCm39) S198P probably damaging Het
Cdc7 A T 5: 107,117,163 (GRCm39) probably null Het
Cdhr2 A G 13: 54,884,269 (GRCm39) D1268G probably benign Het
Celsr3 C T 9: 108,705,781 (GRCm39) R755W probably damaging Het
Chrnb1 T A 11: 69,684,979 (GRCm39) N117I probably damaging Het
Chst11 C A 10: 83,027,083 (GRCm39) P170Q probably damaging Het
Clca3b A G 3: 144,552,932 (GRCm39) Y98H probably damaging Het
Crnkl1 A G 2: 145,770,132 (GRCm39) V237A possibly damaging Het
Ctnnbl1 G A 2: 157,659,752 (GRCm39) probably null Het
Dbndd1 C A 8: 124,236,582 (GRCm39) R95S probably damaging Het
Ddx3y A G Y: 1,265,965 (GRCm39) V344A probably damaging Het
Defb30 A T 14: 63,273,559 (GRCm39) probably null Het
Dennd10 T C 19: 60,823,274 (GRCm39) L303P probably benign Het
Dnah17 C T 11: 118,018,108 (GRCm39) R129Q probably benign Het
Dnhd1 A T 7: 105,362,891 (GRCm39) M3818L probably benign Het
Dusp4 G T 8: 35,284,458 (GRCm39) D258Y probably damaging Het
E2f1 A T 2: 154,406,368 (GRCm39) F103I probably benign Het
Elavl2 T C 4: 91,149,055 (GRCm39) Y248C probably damaging Het
Ephb3 T C 16: 21,037,855 (GRCm39) V310A possibly damaging Het
Erbin A G 13: 103,993,917 (GRCm39) probably null Het
Etv4 A T 11: 101,666,167 (GRCm39) H120Q probably damaging Het
Fcgbpl1 T C 7: 27,839,608 (GRCm39) F474L probably benign Het
Flot2 T A 11: 77,940,314 (GRCm39) C20* probably null Het
Fsip2 G A 2: 82,821,262 (GRCm39) G5665D probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Glrp1 TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG 1: 88,431,066 (GRCm39) probably benign Het
Gm43302 A T 5: 105,427,955 (GRCm39) L202* probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hnf1b A T 11: 83,746,863 (GRCm39) M160L probably damaging Het
Inhbe T C 10: 127,186,470 (GRCm39) T237A possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kmt2c A T 5: 25,499,732 (GRCm39) probably null Het
Kyat3 A G 3: 142,440,367 (GRCm39) K364E probably benign Het
Lars1 T A 18: 42,350,024 (GRCm39) T927S probably benign Het
Mfap1b A T 2: 121,304,371 (GRCm39) M8K probably benign Het
Mroh8 G A 2: 157,070,576 (GRCm39) P592S possibly damaging Het
Myo3b A T 2: 69,957,329 (GRCm39) I185L probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1x6 C T 11: 50,939,297 (GRCm39) A121V probably damaging Het
Or4c110 A T 2: 88,832,540 (GRCm39) L31M probably benign Het
Or51a24 T C 7: 103,734,098 (GRCm39) Y63C probably benign Het
Pcdha8 T A 18: 37,126,787 (GRCm39) V423E probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pde8a T C 7: 80,983,170 (GRCm39) V791A probably damaging Het
Pds5a A G 5: 65,795,920 (GRCm39) S657P probably benign Het
Pes1 CGGAGGAGGAGGAGGAGGAGGAGG CGGAGGAGGAGGAGGAGGAGG 11: 3,927,719 (GRCm39) probably benign Het
Rad51d A G 11: 82,781,196 (GRCm39) V17A possibly damaging Het
Sdc1 A T 12: 8,841,743 (GRCm39) probably null Het
Sdcbp2 T A 2: 151,429,057 (GRCm39) I152N probably damaging Het
Slc4a4 G T 5: 89,194,076 (GRCm39) M141I probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spata6 T C 4: 111,656,315 (GRCm39) C320R probably damaging Het
Ssu2 T A 6: 112,357,957 (GRCm39) T129S probably damaging Het
Stat5a T A 11: 100,771,409 (GRCm39) W631R probably damaging Het
Sult1c2 T A 17: 54,143,939 (GRCm39) N122I possibly damaging Het
Synpo2 G A 3: 122,911,331 (GRCm39) Q105* probably null Het
Tert G A 13: 73,787,362 (GRCm39) V783I probably damaging Het
Ticam1 G T 17: 56,578,117 (GRCm39) T326K probably benign Het
Tmem63b T C 17: 45,980,888 (GRCm39) M269V possibly damaging Het
Tmem86a T A 7: 46,702,794 (GRCm39) V73E possibly damaging Het
Trpv4 G A 5: 114,761,675 (GRCm39) R818C possibly damaging Het
Tstd2 A G 4: 46,135,542 (GRCm39) S4P probably benign Het
Ttn A T 2: 76,644,715 (GRCm39) V4686E probably damaging Het
Ubash3b A G 9: 40,954,769 (GRCm39) probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Usp33 A G 3: 152,089,824 (GRCm39) E780G possibly damaging Het
Vapb T A 2: 173,613,336 (GRCm39) Y78* probably null Het
Vps13b G A 15: 35,887,094 (GRCm39) R3227Q probably damaging Het
Vps33a A T 5: 123,696,693 (GRCm39) I320N probably damaging Het
Wnt5a T C 14: 28,244,727 (GRCm39) C305R probably damaging Het
Zbtb38 A G 9: 96,569,696 (GRCm39) C463R probably damaging Het
Zc3h12d G A 10: 7,742,090 (GRCm39) C263Y probably damaging Het
Zfp971 G A 2: 177,675,526 (GRCm39) R375Q probably damaging Het
Znrf1 T A 8: 112,345,826 (GRCm39) probably null Het
Other mutations in Spata6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Spata6l APN 19 28,937,073 (GRCm39) intron probably benign
IGL01115:Spata6l APN 19 28,921,842 (GRCm39) splice site probably null
IGL01520:Spata6l APN 19 28,873,532 (GRCm39) splice site probably null
R1104:Spata6l UTSW 19 28,945,032 (GRCm39) start codon destroyed probably null 0.99
R1434:Spata6l UTSW 19 28,905,039 (GRCm39) splice site probably benign
R1850:Spata6l UTSW 19 28,916,571 (GRCm39) critical splice acceptor site probably null
R1992:Spata6l UTSW 19 28,926,024 (GRCm39) missense probably damaging 1.00
R4042:Spata6l UTSW 19 28,923,183 (GRCm39) missense possibly damaging 0.83
R4043:Spata6l UTSW 19 28,923,183 (GRCm39) missense possibly damaging 0.83
R4044:Spata6l UTSW 19 28,923,183 (GRCm39) missense possibly damaging 0.83
R4845:Spata6l UTSW 19 28,905,148 (GRCm39) missense probably benign
R4911:Spata6l UTSW 19 28,874,903 (GRCm39) critical splice donor site probably benign
R4933:Spata6l UTSW 19 28,919,175 (GRCm39) missense possibly damaging 0.86
R5213:Spata6l UTSW 19 28,940,964 (GRCm39) missense probably benign 0.22
R6898:Spata6l UTSW 19 28,921,688 (GRCm39) missense probably benign 0.01
R7530:Spata6l UTSW 19 28,926,121 (GRCm39) nonsense probably null
R7883:Spata6l UTSW 19 28,906,013 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AGTCACCGCTTATCAGTGTTCC -3'
(R):5'- TTCCTCTCTGAGAGCTCTGG -3'

Sequencing Primer
(F):5'- AGTGTTCCACTGAGCAGGG -3'
(R):5'- ATCTCCTTAAGATGGAAAGAGGG -3'
Posted On 2016-09-06