Incidental Mutation 'R2875:Timm21'
ID260535
Institutional Source Beutler Lab
Gene Symbol Timm21
Ensembl Gene ENSMUSG00000024645
Gene Nametranslocase of inner mitochondrial membrane 21
Synonyms
MMRRC Submission 040463-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2875 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location84947294-84951524 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84951092 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 69 (D69G)
Ref Sequence ENSEMBL: ENSMUSP00000025547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025547] [ENSMUST00000037718] [ENSMUST00000224467] [ENSMUST00000225445]
Predicted Effect probably benign
Transcript: ENSMUST00000025547
AA Change: D69G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025547
Gene: ENSMUSG00000024645
AA Change: D69G

DomainStartEndE-ValueType
Pfam:TIM21 98 240 6.8e-51 PFAM
Pfam:Coa1 108 236 5.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000037718
SMART Domains Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391

DomainStartEndE-ValueType
low complexity region 35 42 N/A INTRINSIC
FBOX 46 86 3.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223789
Predicted Effect probably benign
Transcript: ENSMUST00000224467
Predicted Effect probably benign
Transcript: ENSMUST00000225445
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (1/1)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T G 10: 10,422,719 T422P probably damaging Het
Adrm1 A G 2: 180,175,618 T293A probably damaging Het
Baz1a A T 12: 54,923,119 D585E probably damaging Het
Ccdc152 T C 15: 3,298,181 N38S probably damaging Het
Cenpf A G 1: 189,658,644 M997T probably benign Het
Dnah12 A G 14: 26,693,470 I9V probably benign Het
Dnah12 A G 14: 26,876,950 N995S probably benign Het
Dnah9 C A 11: 66,168,461 G3C possibly damaging Het
Dock2 A G 11: 34,718,885 S243P probably damaging Het
Eif2ak3 T C 6: 70,883,639 S400P probably damaging Het
Eno1b A G 18: 48,047,784 K343R possibly damaging Het
Gm38394 C T 1: 133,656,860 C913Y probably damaging Het
Gm5346 T A 8: 43,627,140 K16* probably null Het
Grk6 A G 13: 55,452,304 H271R probably damaging Het
H2-Ab1 A C 17: 34,263,312 M1L probably benign Het
Irf8 C A 8: 120,754,463 P262Q probably damaging Het
Kcnc3 G T 7: 44,591,537 G218* probably null Het
Krt9 C A 11: 100,189,205 G454* probably null Het
Mgrn1 C T 16: 4,907,416 T47I possibly damaging Het
Ndst1 A T 18: 60,690,047 F816I probably damaging Het
Olfr193 A T 16: 59,109,802 D269E probably benign Het
Olfr742 T A 14: 50,515,812 W203R probably benign Het
Phf12 C A 11: 78,009,747 T223N probably damaging Het
Rad1 T C 15: 10,490,331 V128A probably benign Het
Rad54l C T 4: 116,101,853 R382Q probably benign Het
Rhbdd1 A G 1: 82,368,369 D215G probably benign Het
Sdc4 T C 2: 164,431,291 D33G possibly damaging Het
Smarca4 A T 9: 21,642,580 K387N possibly damaging Het
St3gal5 A G 6: 72,147,130 M214V possibly damaging Het
Stk25 T C 1: 93,629,251 D15G possibly damaging Het
Ttll4 A G 1: 74,686,438 probably null Het
Ttn T A 2: 76,759,094 N21272I probably damaging Het
Uchl3 A G 14: 101,668,560 H153R probably benign Het
Zcwpw1 T C 5: 137,810,042 S251P probably damaging Het
Zeb1 GGA GGAAGA 18: 5,772,859 probably benign Het
Zscan29 T C 2: 121,164,100 Y468C probably damaging Het
Other mutations in Timm21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Timm21 APN 18 84951275 missense probably benign 0.00
R0238:Timm21 UTSW 18 84947666 missense probably damaging 1.00
R0238:Timm21 UTSW 18 84947666 missense probably damaging 1.00
R0656:Timm21 UTSW 18 84949201 missense probably damaging 0.99
R0918:Timm21 UTSW 18 84949262 missense probably damaging 1.00
R0919:Timm21 UTSW 18 84949262 missense probably damaging 1.00
R1384:Timm21 UTSW 18 84949262 missense probably damaging 1.00
R1740:Timm21 UTSW 18 84949262 missense probably damaging 1.00
R1743:Timm21 UTSW 18 84949262 missense probably damaging 1.00
R1873:Timm21 UTSW 18 84949262 missense probably damaging 1.00
R1875:Timm21 UTSW 18 84949262 missense probably damaging 1.00
R5022:Timm21 UTSW 18 84949414 missense possibly damaging 0.95
R5023:Timm21 UTSW 18 84949414 missense possibly damaging 0.95
R7783:Timm21 UTSW 18 84947721 missense possibly damaging 0.76
R8139:Timm21 UTSW 18 84951138 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATTGGCCTGGACAACCCAAG -3'
(R):5'- TTGTACAGCATGCGGAGAAGC -3'

Sequencing Primer
(F):5'- AAAAAGATCCCCATTCCTTGTGTTC -3'
(R):5'- AGAAGCTGCACGGGTCCTTG -3'
Posted On2015-01-23