Incidental Mutation 'R9413:Spag6'
ID 711883
Institutional Source Beutler Lab
Gene Symbol Spag6
Ensembl Gene ENSMUSG00000037708
Gene Name sperm associated antigen 6
Synonyms BC061194, Spag6l
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R9413 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 18698808-18754561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18739029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 320 (M320L)
Ref Sequence ENSEMBL: ENSMUSP00000092751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095132] [ENSMUST00000173763]
AlphaFold Q3V0U9
Predicted Effect probably benign
Transcript: ENSMUST00000095132
AA Change: M320L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: M320L

DomainStartEndE-ValueType
ARM 30 70 2.26e-3 SMART
ARM 114 154 1.67e-6 SMART
ARM 156 196 4.28e-4 SMART
ARM 198 238 5.43e-6 SMART
ARM 240 280 4.6e0 SMART
ARM 282 322 3.09e1 SMART
ARM 323 365 3.93e-3 SMART
Blast:ARM 367 409 7e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173763
SMART Domains Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708

DomainStartEndE-ValueType
ARM 8 48 2.26e-3 SMART
Blast:ARM 50 90 2e-14 BLAST
ARM 92 132 1.67e-6 SMART
ARM 134 166 5.76e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S possibly damaging Het
Other mutations in Spag6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Spag6 APN 2 18,738,995 (GRCm39) missense probably benign 0.31
IGL01352:Spag6 APN 2 18,715,284 (GRCm39) missense possibly damaging 0.77
IGL02795:Spag6 APN 2 18,737,894 (GRCm39) missense probably benign
IGL03406:Spag6 APN 2 18,747,684 (GRCm39) splice site probably benign
R0362:Spag6 UTSW 2 18,715,302 (GRCm39) missense probably damaging 0.99
R0423:Spag6 UTSW 2 18,715,404 (GRCm39) missense probably benign 0.00
R1309:Spag6 UTSW 2 18,739,027 (GRCm39) missense probably damaging 1.00
R1386:Spag6 UTSW 2 18,739,057 (GRCm39) missense possibly damaging 0.49
R1568:Spag6 UTSW 2 18,737,925 (GRCm39) missense probably benign
R1716:Spag6 UTSW 2 18,750,420 (GRCm39) splice site probably null
R1771:Spag6 UTSW 2 18,738,928 (GRCm39) missense probably benign 0.22
R1911:Spag6 UTSW 2 18,720,616 (GRCm39) nonsense probably null
R1985:Spag6 UTSW 2 18,736,930 (GRCm39) missense probably benign 0.00
R2029:Spag6 UTSW 2 18,738,916 (GRCm39) unclassified probably benign
R2131:Spag6 UTSW 2 18,737,908 (GRCm39) nonsense probably null
R3705:Spag6 UTSW 2 18,715,368 (GRCm39) missense probably damaging 0.99
R4230:Spag6 UTSW 2 18,720,449 (GRCm39) splice site probably null
R4585:Spag6 UTSW 2 18,736,958 (GRCm39) critical splice donor site probably null
R4586:Spag6 UTSW 2 18,736,958 (GRCm39) critical splice donor site probably null
R4692:Spag6 UTSW 2 18,704,054 (GRCm39) missense probably benign 0.24
R4745:Spag6 UTSW 2 18,742,107 (GRCm39) missense possibly damaging 0.78
R4890:Spag6 UTSW 2 18,747,588 (GRCm39) missense probably benign 0.00
R4914:Spag6 UTSW 2 18,750,360 (GRCm39) missense probably benign 0.00
R4918:Spag6 UTSW 2 18,750,360 (GRCm39) missense probably benign 0.00
R5086:Spag6 UTSW 2 18,747,688 (GRCm39) splice site probably benign
R5264:Spag6 UTSW 2 18,750,324 (GRCm39) missense probably benign 0.00
R5729:Spag6 UTSW 2 18,720,525 (GRCm39) missense probably benign
R5754:Spag6 UTSW 2 18,703,613 (GRCm39) unclassified probably benign
R5781:Spag6 UTSW 2 18,736,804 (GRCm39) missense probably benign
R5954:Spag6 UTSW 2 18,715,417 (GRCm39) missense probably damaging 1.00
R6246:Spag6 UTSW 2 18,703,906 (GRCm39) critical splice donor site probably null
R7607:Spag6 UTSW 2 18,736,773 (GRCm39) missense possibly damaging 0.87
R8261:Spag6 UTSW 2 18,750,301 (GRCm39) missense probably benign 0.01
R8411:Spag6 UTSW 2 18,715,394 (GRCm39) missense probably damaging 1.00
R8865:Spag6 UTSW 2 18,738,928 (GRCm39) missense probably benign 0.22
R9275:Spag6 UTSW 2 18,703,985 (GRCm39) missense probably benign 0.28
R9278:Spag6 UTSW 2 18,703,985 (GRCm39) missense probably benign 0.28
R9451:Spag6 UTSW 2 18,715,369 (GRCm39) nonsense probably null
R9660:Spag6 UTSW 2 18,704,047 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- CACCATTGCCAGGTAGTTTTAAG -3'
(R):5'- TCTGGGTGCATGGAAGTGAC -3'

Sequencing Primer
(F):5'- GCCAGGTAGTTTTAAGTACTAAACAG -3'
(R):5'- TCCTGGTGTCAGTCTATGG -3'
Posted On 2022-05-16