Incidental Mutation 'IGL00090:Tex2'
ID 1115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tex2
Ensembl Gene ENSMUSG00000040548
Gene Name testis expressed gene 2
Synonyms 4930568E07Rik, Taz4, Def-5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00090
Quality Score
Status
Chromosome 11
Chromosomal Location 106392973-106504249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106459361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 23 (V23E)
Ref Sequence ENSEMBL: ENSMUSP00000120781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042780] [ENSMUST00000103070] [ENSMUST00000128933] [ENSMUST00000153870]
AlphaFold Q6ZPJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000042780
AA Change: V23E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: V23E

DomainStartEndE-ValueType
low complexity region 119 186 N/A INTRINSIC
low complexity region 319 341 N/A INTRINSIC
low complexity region 346 360 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 494 516 N/A INTRINSIC
PH 543 712 5.05e-1 SMART
low complexity region 732 752 N/A INTRINSIC
low complexity region 811 823 N/A INTRINSIC
low complexity region 946 965 N/A INTRINSIC
low complexity region 1003 1016 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103070
AA Change: V23E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: V23E

DomainStartEndE-ValueType
low complexity region 119 186 N/A INTRINSIC
low complexity region 319 341 N/A INTRINSIC
low complexity region 346 360 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 494 516 N/A INTRINSIC
PH 543 712 5.05e-1 SMART
low complexity region 732 752 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128933
AA Change: V23E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120781
Gene: ENSMUSG00000040548
AA Change: V23E

DomainStartEndE-ValueType
low complexity region 119 168 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153870
AA Change: V23E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000207249
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Tex2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Tex2 APN 11 106,435,141 (GRCm39) nonsense probably null
IGL02607:Tex2 APN 11 106,437,573 (GRCm39) missense unknown
IGL02680:Tex2 APN 11 106,459,058 (GRCm39) unclassified probably benign
IGL02699:Tex2 APN 11 106,459,259 (GRCm39) missense possibly damaging 0.53
IGL03187:Tex2 APN 11 106,458,903 (GRCm39) unclassified probably benign
IGL03398:Tex2 APN 11 106,459,098 (GRCm39) missense probably damaging 1.00
R0242:Tex2 UTSW 11 106,410,781 (GRCm39) nonsense probably null
R0242:Tex2 UTSW 11 106,410,781 (GRCm39) nonsense probably null
R1085:Tex2 UTSW 11 106,459,313 (GRCm39) missense probably damaging 0.98
R1491:Tex2 UTSW 11 106,394,466 (GRCm39) missense possibly damaging 0.72
R1664:Tex2 UTSW 11 106,458,608 (GRCm39) unclassified probably benign
R1794:Tex2 UTSW 11 106,458,728 (GRCm39) unclassified probably benign
R1855:Tex2 UTSW 11 106,437,702 (GRCm39) missense possibly damaging 0.87
R2077:Tex2 UTSW 11 106,397,690 (GRCm39) splice site probably null
R2151:Tex2 UTSW 11 106,458,161 (GRCm39) unclassified probably benign
R2175:Tex2 UTSW 11 106,394,513 (GRCm39) missense unknown
R2984:Tex2 UTSW 11 106,437,489 (GRCm39) critical splice donor site probably null
R3156:Tex2 UTSW 11 106,424,695 (GRCm39) critical splice donor site probably null
R3722:Tex2 UTSW 11 106,437,566 (GRCm39) nonsense probably null
R3724:Tex2 UTSW 11 106,420,156 (GRCm39) missense unknown
R3770:Tex2 UTSW 11 106,435,078 (GRCm39) missense unknown
R3771:Tex2 UTSW 11 106,437,720 (GRCm39) missense unknown
R3813:Tex2 UTSW 11 106,402,770 (GRCm39) missense unknown
R3947:Tex2 UTSW 11 106,410,829 (GRCm39) missense unknown
R4206:Tex2 UTSW 11 106,458,398 (GRCm39) unclassified probably benign
R4342:Tex2 UTSW 11 106,457,832 (GRCm39) unclassified probably benign
R4554:Tex2 UTSW 11 106,435,212 (GRCm39) missense unknown
R4896:Tex2 UTSW 11 106,459,230 (GRCm39) missense probably damaging 1.00
R5207:Tex2 UTSW 11 106,437,666 (GRCm39) missense unknown
R5249:Tex2 UTSW 11 106,437,615 (GRCm39) missense unknown
R5257:Tex2 UTSW 11 106,458,585 (GRCm39) unclassified probably benign
R5258:Tex2 UTSW 11 106,458,585 (GRCm39) unclassified probably benign
R5278:Tex2 UTSW 11 106,458,639 (GRCm39) missense probably benign 0.34
R5702:Tex2 UTSW 11 106,435,221 (GRCm39) missense possibly damaging 0.58
R5835:Tex2 UTSW 11 106,410,739 (GRCm39) missense unknown
R6150:Tex2 UTSW 11 106,457,906 (GRCm39) missense probably benign 0.34
R6785:Tex2 UTSW 11 106,424,776 (GRCm39) missense probably damaging 1.00
R6879:Tex2 UTSW 11 106,424,836 (GRCm39) missense unknown
R7038:Tex2 UTSW 11 106,402,726 (GRCm39) critical splice donor site probably null
R7117:Tex2 UTSW 11 106,435,071 (GRCm39) missense unknown
R7336:Tex2 UTSW 11 106,439,685 (GRCm39) missense unknown
R7568:Tex2 UTSW 11 106,439,562 (GRCm39) missense unknown
R7622:Tex2 UTSW 11 106,437,721 (GRCm39) missense unknown
R8228:Tex2 UTSW 11 106,457,997 (GRCm39) missense probably benign 0.34
R8407:Tex2 UTSW 11 106,459,221 (GRCm39) missense probably damaging 1.00
R8807:Tex2 UTSW 11 106,458,414 (GRCm39) missense unknown
R8807:Tex2 UTSW 11 106,435,194 (GRCm39) missense unknown
R8882:Tex2 UTSW 11 106,435,062 (GRCm39) missense unknown
R8926:Tex2 UTSW 11 106,459,230 (GRCm39) missense
R8936:Tex2 UTSW 11 106,458,144 (GRCm39) nonsense probably null
R8988:Tex2 UTSW 11 106,402,731 (GRCm39) missense unknown
R9165:Tex2 UTSW 11 106,458,095 (GRCm39) missense unknown
R9294:Tex2 UTSW 11 106,459,361 (GRCm39) missense probably damaging 1.00
R9314:Tex2 UTSW 11 106,435,075 (GRCm39) missense unknown
R9405:Tex2 UTSW 11 106,435,214 (GRCm39) missense unknown
R9419:Tex2 UTSW 11 106,457,835 (GRCm39) nonsense probably null
R9477:Tex2 UTSW 11 106,410,706 (GRCm39) critical splice donor site probably null
R9626:Tex2 UTSW 11 106,437,579 (GRCm39) missense unknown
R9634:Tex2 UTSW 11 106,458,978 (GRCm39) missense unknown
T0970:Tex2 UTSW 11 106,437,772 (GRCm39) missense unknown
Z1177:Tex2 UTSW 11 106,424,834 (GRCm39) missense unknown
Posted On 2011-07-12