Incidental Mutation 'R8020:Tsga8'
ID 617334
Institutional Source Beutler Lab
Gene Symbol Tsga8
Ensembl Gene ENSMUSG00000035522
Gene Name testis specific gene A8
Synonyms Halapx, Halap-X
MMRRC Submission 067459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R8020 (G1)
Quality Score 164.067
Status Validated
Chromosome X
Chromosomal Location 82530284-82531530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82530704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 135 (L135P)
Ref Sequence ENSEMBL: ENSMUSP00000043015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049420] [ENSMUST00000114000]
AlphaFold Q9JJL0
Predicted Effect unknown
Transcript: ENSMUST00000049420
AA Change: L135P
SMART Domains Protein: ENSMUSP00000043015
Gene: ENSMUSG00000035522
AA Change: L135P

DomainStartEndE-ValueType
low complexity region 79 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114000
SMART Domains Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103

DomainStartEndE-ValueType
CH 17 117 5.94e-27 SMART
CH 136 235 3.83e-21 SMART
SPEC 344 448 7.39e-17 SMART
SPEC 453 557 6.49e-13 SMART
SPEC 564 668 9.73e-2 SMART
low complexity region 672 695 N/A INTRINSIC
SPEC 724 829 9.18e-13 SMART
SPEC 835 935 2.28e-1 SMART
SPEC 944 1046 9.34e-2 SMART
SPEC 1053 1155 7.99e-13 SMART
SPEC 1162 1264 7.52e-9 SMART
SPEC 1271 1368 5.53e-7 SMART
SPEC 1470 1569 7.29e-7 SMART
SPEC 1576 1677 8.29e-1 SMART
SPEC 1684 1781 1.82e-1 SMART
SPEC 1786 1875 3.48e0 SMART
SPEC 1882 1972 6.69e-2 SMART
SPEC 2000 2102 1.45e0 SMART
SPEC 2109 2209 6.15e-14 SMART
SPEC 2216 2317 8.9e-11 SMART
low complexity region 2325 2337 N/A INTRINSIC
low complexity region 2432 2444 N/A INTRINSIC
SPEC 2466 2569 1.65e-14 SMART
SPEC 2576 2678 1.2e-7 SMART
SPEC 2685 2794 9.84e-13 SMART
SPEC 2801 2923 8.38e-7 SMART
SPEC 2930 3032 1.21e-12 SMART
WW 3049 3081 1.36e-10 SMART
Pfam:EF-hand_2 3082 3200 1.7e-42 PFAM
Pfam:EF-hand_3 3204 3295 6.6e-41 PFAM
ZnF_ZZ 3300 3345 7.39e-18 SMART
coiled coil region 3488 3598 N/A INTRINSIC
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,870,594 (GRCm39) V32A probably benign Het
Atp8b1 A G 18: 64,679,084 (GRCm39) L799S probably damaging Het
Atxn7l1 C T 12: 33,375,952 (GRCm39) A82V probably benign Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Cubn A T 2: 13,483,989 (GRCm39) D201E probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gje1 T C 10: 14,593,021 (GRCm39) Y65C probably damaging Het
Gng11 C T 6: 4,008,077 (GRCm39) R47C probably damaging Het
Hyal4 T C 6: 24,755,995 (GRCm39) V71A probably benign Het
Ighd A T 12: 113,378,168 (GRCm39) S144T probably benign Het
Il2rb T C 15: 78,369,204 (GRCm39) Y249C probably benign Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lrrc27 C T 7: 138,816,793 (GRCm39) S397L probably damaging Het
Ms4a6d T C 19: 11,567,472 (GRCm39) E143G probably benign Het
Mtif3 A G 5: 146,895,713 (GRCm39) Y125H probably damaging Het
Or51a8 A G 7: 102,550,472 (GRCm39) I299M possibly damaging Het
Prkcd G A 14: 30,331,201 (GRCm39) T58M possibly damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Prpf6 T C 2: 181,287,363 (GRCm39) F583L probably benign Het
Prrx1 T C 1: 163,075,831 (GRCm39) N245S probably damaging Het
Rfc1 A T 5: 65,429,521 (GRCm39) I922N probably damaging Het
Rplp0 T C 5: 115,698,903 (GRCm39) V53A probably benign Het
Sis A G 3: 72,816,298 (GRCm39) probably null Het
Slc12a1 T C 2: 125,020,022 (GRCm39) F411S possibly damaging Het
Slc30a9 G T 5: 67,464,376 (GRCm39) probably benign Het
Slc35d2 A G 13: 64,254,857 (GRCm39) I207T probably benign Het
Tbc1d14 G T 5: 36,729,187 (GRCm39) H60N probably benign Het
Tmem186 G A 16: 8,454,024 (GRCm39) T79I probably damaging Het
Zfp981 A G 4: 146,621,825 (GRCm39) D250G possibly damaging Het
Other mutations in Tsga8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7766:Tsga8 UTSW X 82,530,704 (GRCm39) missense unknown
Z1176:Tsga8 UTSW X 82,531,316 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TTCCTCCTCTACAGCTGGAG -3'
(R):5'- GGCTAAGAAGTCCAAAGTGGCC -3'

Sequencing Primer
(F):5'- TGGTGCCTCAGGTGCAG -3'
(R):5'- CAAGGAGCCAACCATGCTGG -3'
Posted On 2020-01-23