Incidental Mutation 'IGL01866:Trabd2b'
ID178507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trabd2b
Ensembl Gene ENSMUSG00000070867
Gene NameTraB domain containing 2B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01866
Quality Score
Status
Chromosome4
Chromosomal Location114406724-114615098 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114408920 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 44 (T44A)
Ref Sequence ENSEMBL: ENSMUSP00000092494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094894]
Predicted Effect probably damaging
Transcript: ENSMUST00000094894
AA Change: T44A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092494
Gene: ENSMUSG00000070867
AA Change: T44A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:TraB 41 350 6.2e-67 PFAM
low complexity region 359 402 N/A INTRINSIC
low complexity region 404 419 N/A INTRINSIC
low complexity region 450 469 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik T C 4: 144,528,549 Y180H possibly damaging Het
Abi3bp A T 16: 56,671,973 I1361L probably benign Het
Amph A T 13: 19,142,002 D634V probably damaging Het
Ank1 G A 8: 23,093,855 V317I possibly damaging Het
Ap4e1 G A 2: 127,046,910 V460I possibly damaging Het
Arhgap19 A T 19: 41,786,577 H198Q probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cacna1g C T 11: 94,457,111 G717D probably damaging Het
Camkk2 A G 5: 122,763,950 S99P probably damaging Het
Catsperb T A 12: 101,509,311 Y371* probably null Het
Cbl A T 9: 44,153,825 C735* probably null Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Col1a2 G T 6: 4,524,132 D531Y probably damaging Het
Dscam T A 16: 96,685,350 T1042S probably benign Het
Dtnb A G 12: 3,732,626 Y363C probably benign Het
Ear10 A G 14: 43,923,328 L14P probably damaging Het
Egf A G 3: 129,735,880 S294P probably benign Het
Erbb3 T C 10: 128,569,368 *1340W probably null Het
Fam217b A G 2: 178,420,431 T63A probably benign Het
Fig4 G A 10: 41,232,164 P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Hdac10 C A 15: 89,124,533 G442W probably damaging Het
Mc2r C T 18: 68,407,423 M266I possibly damaging Het
Mep1b A G 18: 21,094,993 Q551R probably benign Het
Mtrf1 T A 14: 79,401,508 C27S probably benign Het
Myo5c T A 9: 75,269,582 M603K probably benign Het
Nuf2 A G 1: 169,498,838 L448P possibly damaging Het
Olfr1535 T C 13: 21,555,173 N283S probably benign Het
Olfr390 A T 11: 73,787,828 I297L probably benign Het
Olfr517 C T 7: 108,868,799 M118I possibly damaging Het
Olfr952 A T 9: 39,426,729 M114K probably damaging Het
Ppp2r5c T C 12: 110,567,827 Y375H probably benign Het
Pstpip2 A G 18: 77,877,625 I317M probably benign Het
Pxdn A G 12: 29,984,571 T208A probably benign Het
Rab3gap1 C T 1: 127,891,080 H116Y probably damaging Het
Rarb T A 14: 16,443,751 D179V probably benign Het
Rasal1 G A 5: 120,675,423 A621T probably damaging Het
Rnf6 G A 5: 146,210,907 R434C probably damaging Het
Scn10a C A 9: 119,635,502 E1011* probably null Het
Sec24d C T 3: 123,293,595 Q137* probably null Het
Slc35g1 C A 19: 38,403,194 A308E probably damaging Het
Smtnl1 C A 2: 84,818,745 C55F possibly damaging Het
Stt3a A T 9: 36,734,366 D676E probably benign Het
Sytl2 T C 7: 90,381,839 probably benign Het
Trim12a T C 7: 104,304,153 probably benign Het
Tti1 A T 2: 158,007,698 D540E probably benign Het
Tubgcp6 A G 15: 89,103,488 V1094A probably benign Het
Vmn1r34 A G 6: 66,637,389 Y122H probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp579 T A 7: 4,994,258 Q218L possibly damaging Het
Other mutations in Trabd2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Trabd2b APN 4 114409125 missense probably damaging 0.99
IGL01404:Trabd2b APN 4 114599956 missense probably benign 0.01
IGL03056:Trabd2b APN 4 114409338 missense probably damaging 0.96
IGL03167:Trabd2b APN 4 114609998 missense probably benign
E0374:Trabd2b UTSW 4 114599897 missense probably damaging 0.99
R0645:Trabd2b UTSW 4 114586570 missense probably damaging 1.00
R0744:Trabd2b UTSW 4 114580322 missense probably benign 0.00
R0833:Trabd2b UTSW 4 114580322 missense probably benign 0.00
R1580:Trabd2b UTSW 4 114580334 missense possibly damaging 0.91
R1599:Trabd2b UTSW 4 114408981 missense probably damaging 0.99
R2132:Trabd2b UTSW 4 114610008 missense probably benign
R2133:Trabd2b UTSW 4 114610008 missense probably benign
R2204:Trabd2b UTSW 4 114602994 missense probably damaging 1.00
R2518:Trabd2b UTSW 4 114599903 missense probably damaging 1.00
R4940:Trabd2b UTSW 4 114408944 missense probably damaging 1.00
R4994:Trabd2b UTSW 4 114406855 missense probably benign 0.05
R5104:Trabd2b UTSW 4 114406917 missense probably benign 0.21
R5219:Trabd2b UTSW 4 114602810 missense probably damaging 0.97
R6456:Trabd2b UTSW 4 114586560 missense probably damaging 1.00
R7148:Trabd2b UTSW 4 114409350 missense probably damaging 1.00
R7192:Trabd2b UTSW 4 114610020 missense possibly damaging 0.88
R7195:Trabd2b UTSW 4 114409440 missense probably damaging 1.00
R7375:Trabd2b UTSW 4 114609997 missense probably benign 0.00
Posted On2014-05-07