Incidental Mutation 'R7640:Tbc1d21'
ID590191
Institutional Source Beutler Lab
Gene Symbol Tbc1d21
Ensembl Gene ENSMUSG00000036244
Gene NameTBC1 domain family, member 21
Synonyms1700095K08Rik, MgcRabGAP
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #R7640 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location58359704-58370455 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 58361261 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 272 (V272M)
Ref Sequence ENSEMBL: ENSMUSP00000037525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040217] [ENSMUST00000213847]
Predicted Effect probably damaging
Transcript: ENSMUST00000040217
AA Change: V272M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: V272M

DomainStartEndE-ValueType
TBC 54 291 1.76e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000213847
AA Change: G288D
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,454,594 N20I probably damaging Het
1700020D05Rik T A 19: 5,503,007 S249C probably damaging Het
4930558K02Rik A G 1: 161,957,149 S74P probably benign Het
4932415D10Rik T A 10: 82,294,656 N840I probably damaging Het
Adamts14 C A 10: 61,246,057 A234S probably benign Het
Ankrd42 A G 7: 92,619,635 S167P probably benign Het
Ap3m1 T C 14: 21,038,175 I272V probably benign Het
Armt1 T C 10: 4,453,572 F219S probably damaging Het
Cep72 G A 13: 74,058,488 Q72* probably null Het
Clock G T 5: 76,248,378 L175M possibly damaging Het
Cnmd T A 14: 79,661,534 Y26F possibly damaging Het
Col6a6 A T 9: 105,785,744 M198K possibly damaging Het
Cuta C T 17: 26,938,422 V135I probably benign Het
Ddx41 A T 13: 55,534,239 M241K possibly damaging Het
Dnajc22 A G 15: 99,101,114 N60S probably damaging Het
Drc3 A G 11: 60,388,904 M432V probably benign Het
Eef1d C A 15: 75,902,707 G368C probably damaging Het
En2 A T 5: 28,170,166 K236* probably null Het
Fas A G 19: 34,307,164 T24A possibly damaging Het
Gm13078 T C 4: 143,726,706 V128A probably benign Het
Golga2 T C 2: 32,306,239 V930A probably benign Het
Gprin2 G T 14: 34,195,753 A20D probably benign Het
Ighv14-4 A T 12: 114,176,444 C115* probably null Het
Impdh2 T C 9: 108,565,181 Y459H possibly damaging Het
Klhdc7b G T 15: 89,387,260 V124L possibly damaging Het
L2hgdh A T 12: 69,721,357 Y122* probably null Het
Lamc2 A T 1: 153,136,804 I708N possibly damaging Het
Large2 T C 2: 92,374,705 M1V probably null Het
Lrit2 T C 14: 37,072,124 W382R probably damaging Het
Mcee T A 7: 64,411,968 V173E probably damaging Het
Mcph1 T A 8: 18,632,326 V493E probably benign Het
Mfap4 A G 11: 61,487,087 N118D probably damaging Het
Mknk2 T C 10: 80,668,566 S301G probably benign Het
Mlf1 G A 3: 67,392,933 M94I possibly damaging Het
Mrc2 T A 11: 105,332,295 S455T possibly damaging Het
Mrgprb5 T G 7: 48,168,259 I243L probably benign Het
Muc4 C A 16: 32,760,105 P360T Het
Nat10 G A 2: 103,743,090 A354V probably damaging Het
Nts T C 10: 102,490,304 Q7R possibly damaging Het
Olfr1076 A G 2: 86,508,943 I161M possibly damaging Het
Olfr1131 A G 2: 87,629,092 I94V probably benign Het
Olfr1196 T A 2: 88,700,886 I148L probably benign Het
Olfr633 A T 7: 103,946,943 I126F probably damaging Het
Otoa A G 7: 121,145,626 E869G probably damaging Het
Pcdhac2 T C 18: 37,144,525 L186P probably damaging Het
Plekhh2 A G 17: 84,610,776 E1271G possibly damaging Het
Pmepa1 C T 2: 173,276,163 A8T probably benign Het
Rc3h2 A G 2: 37,377,849 probably null Het
Rlf T A 4: 121,146,801 M1771L possibly damaging Het
Rpap1 G A 2: 119,764,410 P1372L possibly damaging Het
Rragd A T 4: 32,983,527 D22V probably benign Het
Sp110 G A 1: 85,579,092 R417C Het
Specc1l T A 10: 75,257,869 N717K probably damaging Het
Sphkap C T 1: 83,278,928 D367N possibly damaging Het
Tmem132c A G 5: 127,563,006 D747G probably damaging Het
Tmem56 A G 3: 121,235,041 probably null Het
Trim2 C A 3: 84,190,906 V372F probably benign Het
Ttc34 A G 4: 154,861,384 T292A probably benign Het
Ube3b A G 5: 114,415,323 T919A probably benign Het
Wdr34 T G 2: 30,031,768 D527A probably benign Het
Zfhx4 T C 3: 5,412,480 I3385T probably benign Het
Zfp423 T C 8: 87,781,277 K813R probably damaging Het
Zfp850 T C 7: 27,989,209 T525A probably benign Het
Zfp873 T C 10: 82,060,275 I280T possibly damaging Het
Zkscan7 A G 9: 122,896,056 T697A possibly damaging Het
Other mutations in Tbc1d21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00845:Tbc1d21 APN 9 58362462 missense possibly damaging 0.78
IGL02118:Tbc1d21 APN 9 58360463 missense probably benign 0.00
IGL02651:Tbc1d21 APN 9 58363101 nonsense probably null
R0693:Tbc1d21 UTSW 9 58361287 missense probably damaging 1.00
R0730:Tbc1d21 UTSW 9 58359877 missense probably benign 0.00
R1454:Tbc1d21 UTSW 9 58362813 critical splice donor site probably null
R1776:Tbc1d21 UTSW 9 58366728 splice site probably benign
R2230:Tbc1d21 UTSW 9 58363080 missense probably damaging 1.00
R2512:Tbc1d21 UTSW 9 58362912 missense probably damaging 1.00
R3052:Tbc1d21 UTSW 9 58363069 missense probably damaging 1.00
R3053:Tbc1d21 UTSW 9 58363069 missense probably damaging 1.00
R6348:Tbc1d21 UTSW 9 58361218 missense probably benign
R6805:Tbc1d21 UTSW 9 58361288 missense possibly damaging 0.91
R7032:Tbc1d21 UTSW 9 58366851 critical splice donor site probably null
R7153:Tbc1d21 UTSW 9 58363093 missense probably damaging 1.00
R7753:Tbc1d21 UTSW 9 58362023 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCATCAACCAGGGCATCATG -3'
(R):5'- TCATCCTGGATTGCCAACC -3'

Sequencing Primer
(F):5'- GCATCATGGGCCTGCATC -3'
(R):5'- TTGAATATAGCACCCCTGCC -3'
Posted On2019-10-24