Incidental Mutation 'IGL03302:Thegl'
ID416254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thegl
Ensembl Gene ENSMUSG00000029248
Gene Nametheg spermatid protein like
Synonyms1700023E05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL03302
Quality Score
Status
Chromosome5
Chromosomal Location77016023-77061529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 77054576 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 281 (S281R)
Ref Sequence ENSEMBL: ENSMUSP00000112814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880]
Predicted Effect probably benign
Transcript: ENSMUST00000031161
AA Change: S281R

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: S281R

DomainStartEndE-ValueType
low complexity region 21 30 N/A INTRINSIC
low complexity region 48 65 N/A INTRINSIC
THEG 172 190 4.56e2 SMART
THEG 212 231 5.84e0 SMART
THEG 258 277 3.1e-1 SMART
THEG 291 310 8.37e2 SMART
THEG 327 346 7.65e1 SMART
THEG 367 386 3.61e1 SMART
THEG 403 422 1.15e1 SMART
THEG 440 459 9.98e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117880
AA Change: S281R

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: S281R

DomainStartEndE-ValueType
low complexity region 21 30 N/A INTRINSIC
low complexity region 48 65 N/A INTRINSIC
THEG 172 190 4.56e2 SMART
THEG 212 231 5.84e0 SMART
THEG 258 277 3.1e-1 SMART
THEG 291 310 8.37e2 SMART
THEG 327 346 7.65e1 SMART
THEG 367 386 3.61e1 SMART
THEG 403 422 1.15e1 SMART
THEG 440 459 9.98e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,967,750 Y542F possibly damaging Het
Ankrd34b A T 13: 92,439,643 N461I possibly damaging Het
Ccl24 T C 5: 135,570,878 K93E probably benign Het
Ccr9 T A 9: 123,779,536 D94E probably damaging Het
Cd79a G A 7: 24,899,334 V103M probably damaging Het
Ces1e A G 8: 93,223,893 probably null Het
Cul9 T C 17: 46,526,640 E993G probably damaging Het
Cyp4a14 T C 4: 115,491,378 I330V probably benign Het
Cyp7a1 T C 4: 6,273,801 D35G probably benign Het
Dmpk C A 7: 19,086,486 probably benign Het
Gcnt1 G T 19: 17,329,183 R393S probably benign Het
Lctl C T 9: 64,134,848 probably benign Het
Mttp A T 3: 138,104,707 I664N possibly damaging Het
Myh1 C T 11: 67,211,502 A873V probably benign Het
Nedd9 A G 13: 41,338,854 V54A probably damaging Het
Olfr1306 A T 2: 111,912,822 V36E possibly damaging Het
Olfr401 T G 11: 74,121,633 C115G possibly damaging Het
Olfr449 G T 6: 42,838,003 E41* probably null Het
Pak6 A T 2: 118,693,303 E313V probably benign Het
Pla2g4a A G 1: 149,864,947 S402P probably benign Het
Polq T C 16: 37,071,772 M2012T probably damaging Het
Ppp1r12b A T 1: 134,838,050 probably benign Het
Rbp3 A G 14: 33,954,659 H188R probably damaging Het
Rps6ka2 C A 17: 7,299,388 Q682K possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Spag4 A G 2: 156,068,420 Q322R probably damaging Het
Spef2 T C 15: 9,676,380 T702A probably benign Het
Taf3 G T 2: 9,952,131 F408L probably damaging Het
Tead2 T G 7: 45,232,899 Y121D possibly damaging Het
Tmco5 A T 2: 116,892,279 T294S probably damaging Het
Trim37 A G 11: 87,147,001 E187G possibly damaging Het
Ubb T A 11: 62,552,417 L91Q probably damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Zan T C 5: 137,468,390 S402G possibly damaging Het
Zc3h7a T A 16: 11,141,710 H793L probably damaging Het
Zfhx4 C T 3: 5,403,713 T2977I possibly damaging Het
Other mutations in Thegl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Thegl APN 5 77060831 missense probably damaging 1.00
IGL02008:Thegl APN 5 77060758 missense probably benign 0.01
IGL02014:Thegl APN 5 77047155 missense probably damaging 0.99
IGL02525:Thegl APN 5 77016553 missense probably benign 0.08
IGL03036:Thegl APN 5 77016350 missense possibly damaging 0.86
IGL03200:Thegl APN 5 77060864 missense possibly damaging 0.66
R0242:Thegl UTSW 5 77016305 nonsense probably null
R0242:Thegl UTSW 5 77016305 nonsense probably null
R0483:Thegl UTSW 5 77037357 splice site probably benign
R1875:Thegl UTSW 5 77054584 missense probably benign 0.29
R2121:Thegl UTSW 5 77060758 missense probably benign 0.01
R2232:Thegl UTSW 5 77059405 missense possibly damaging 0.84
R2280:Thegl UTSW 5 77059367 missense probably damaging 1.00
R2281:Thegl UTSW 5 77059367 missense probably damaging 1.00
R4422:Thegl UTSW 5 77054536 missense possibly damaging 0.91
R4423:Thegl UTSW 5 77054536 missense possibly damaging 0.91
R4424:Thegl UTSW 5 77054536 missense possibly damaging 0.91
R4935:Thegl UTSW 5 77037353 critical splice donor site probably null
R5041:Thegl UTSW 5 77056081 missense probably benign 0.05
R5175:Thegl UTSW 5 77016470 missense probably benign 0.00
R5560:Thegl UTSW 5 77016486 missense possibly damaging 0.61
R6086:Thegl UTSW 5 77061305 missense probably benign 0.11
R6193:Thegl UTSW 5 77016336 missense possibly damaging 0.85
R7070:Thegl UTSW 5 77047277 critical splice donor site probably null
R7453:Thegl UTSW 5 77060786 missense probably damaging 1.00
R7703:Thegl UTSW 5 77016597 missense probably benign 0.34
RF007:Thegl UTSW 5 77016408 small insertion probably benign
RF010:Thegl UTSW 5 77016427 small insertion probably benign
RF014:Thegl UTSW 5 77016400 small insertion probably benign
RF016:Thegl UTSW 5 77016408 small insertion probably benign
RF020:Thegl UTSW 5 77016400 small insertion probably benign
RF028:Thegl UTSW 5 77016401 small insertion probably benign
RF030:Thegl UTSW 5 77016401 small insertion probably benign
RF031:Thegl UTSW 5 77016410 small insertion probably benign
RF033:Thegl UTSW 5 77016405 small insertion probably benign
RF033:Thegl UTSW 5 77016429 small insertion probably benign
RF036:Thegl UTSW 5 77016429 small insertion probably benign
RF037:Thegl UTSW 5 77016421 small insertion probably benign
RF039:Thegl UTSW 5 77016402 small insertion probably benign
RF044:Thegl UTSW 5 77016405 small insertion probably benign
RF046:Thegl UTSW 5 77016403 small insertion probably benign
RF055:Thegl UTSW 5 77016403 small insertion probably benign
RF060:Thegl UTSW 5 77016427 small insertion probably benign
RF063:Thegl UTSW 5 77016426 small insertion probably benign
RF064:Thegl UTSW 5 77016415 small insertion probably benign
Z1176:Thegl UTSW 5 77060794 missense probably damaging 0.96
Posted On2016-08-02