Incidental Mutation 'R4527:Timm10b'
| ID |
334483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Timm10b
|
| Ensembl Gene |
ENSMUSG00000089847 |
| Gene Name |
translocase of inner mitochondrial membrane 10B |
| Synonyms |
Fracture Callus 1, FxC1, Tim9b, Tim10b |
| MMRRC Submission |
041768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R4527 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
105289263-105292844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105332013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 828
(N828S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106776]
[ENSMUST00000142874]
[ENSMUST00000145988]
|
| AlphaFold |
Q9WV96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106776
AA Change: N90S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102388
Gene: ENSMUSG00000030882
AA Change: N90S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
205 |
224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142874
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145988
AA Change: N828S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121261
Gene: ENSMUSG00000030882
AA Change: N828S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
962 |
N/A |
INTRINSIC |
|
Pfam:DHC_N2
|
1018 |
1472 |
4.6e-50 |
PFAM |
|
Pfam:AAA_6
|
1652 |
1875 |
2.7e-14 |
PFAM |
|
low complexity region
|
1906 |
1918 |
N/A |
INTRINSIC |
|
Blast:AAA
|
1993 |
2196 |
1e-34 |
BLAST |
|
Pfam:AAA_7
|
2362 |
2610 |
3.3e-11 |
PFAM |
|
low complexity region
|
2697 |
2714 |
N/A |
INTRINSIC |
|
low complexity region
|
2722 |
2733 |
N/A |
INTRINSIC |
|
low complexity region
|
2800 |
2810 |
N/A |
INTRINSIC |
|
low complexity region
|
3116 |
3134 |
N/A |
INTRINSIC |
|
Pfam:MT
|
3178 |
3470 |
3.9e-16 |
PFAM |
|
coiled coil region
|
3590 |
3642 |
N/A |
INTRINSIC |
|
coiled coil region
|
3816 |
3843 |
N/A |
INTRINSIC |
|
Pfam:Dynein_heavy
|
3976 |
4746 |
7.3e-97 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
A |
G |
5: 137,682,798 (GRCm39) |
V15A |
unknown |
Het |
| Asb3 |
A |
G |
11: 31,008,933 (GRCm39) |
D278G |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,815,424 (GRCm39) |
I780T |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,963,065 (GRCm39) |
P200L |
probably damaging |
Het |
| Cars1 |
A |
T |
7: 143,118,786 (GRCm39) |
M668K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Crhr2 |
T |
A |
6: 55,109,838 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,572,091 (GRCm39) |
E855K |
probably benign |
Het |
| Espn |
C |
T |
4: 152,220,106 (GRCm39) |
R339Q |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,293,163 (GRCm39) |
E481V |
probably benign |
Het |
| Gorab |
T |
G |
1: 163,224,705 (GRCm39) |
K32T |
possibly damaging |
Het |
| Mak16 |
G |
A |
8: 31,656,205 (GRCm39) |
Q93* |
probably null |
Het |
| Muc4 |
T |
C |
16: 32,576,217 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,083,249 (GRCm39) |
I5409N |
probably benign |
Het |
| Olfm4 |
C |
T |
14: 80,258,664 (GRCm39) |
S304F |
probably benign |
Het |
| Pask |
A |
G |
1: 93,248,224 (GRCm39) |
F1026L |
probably benign |
Het |
| Rab11a |
A |
G |
9: 64,632,850 (GRCm39) |
S19P |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,255,631 (GRCm39) |
D541G |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,398,210 (GRCm39) |
S108G |
probably damaging |
Het |
| Rps4l-ps |
C |
T |
7: 114,526,403 (GRCm39) |
|
noncoding transcript |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,362,627 (GRCm39) |
Y64C |
probably damaging |
Het |
| Sorbs3 |
A |
C |
14: 70,445,066 (GRCm39) |
I4S |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,925,647 (GRCm39) |
N935S |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,499 (GRCm39) |
V525A |
probably damaging |
Het |
| Ttyh1 |
A |
T |
7: 4,122,763 (GRCm39) |
D4V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,371,257 (GRCm39) |
L53Q |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,351,659 (GRCm39) |
N76K |
probably damaging |
Het |
| Zscan25 |
T |
C |
5: 145,220,268 (GRCm39) |
V21A |
probably damaging |
Het |
|
| Other mutations in Timm10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Timm10b
|
APN |
7 |
105,290,345 (GRCm39) |
nonsense |
probably null |
|
|
IGL02642:Timm10b
|
APN |
7 |
105,317,645 (GRCm39) |
splice site |
probably benign |
|
|
IGL02689:Timm10b
|
APN |
7 |
105,289,839 (GRCm39) |
splice site |
probably benign |
|
|
R0413:Timm10b
|
UTSW |
7 |
105,327,537 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0635:Timm10b
|
UTSW |
7 |
105,289,895 (GRCm39) |
intron |
probably benign |
|
|
R1761:Timm10b
|
UTSW |
7 |
105,332,915 (GRCm39) |
nonsense |
probably null |
|
|
R4525:Timm10b
|
UTSW |
7 |
105,332,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4528:Timm10b
|
UTSW |
7 |
105,332,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4839:Timm10b
|
UTSW |
7 |
105,333,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Timm10b
|
UTSW |
7 |
105,290,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5313:Timm10b
|
UTSW |
7 |
105,290,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Timm10b
|
UTSW |
7 |
105,290,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Timm10b
|
UTSW |
7 |
105,290,087 (GRCm39) |
missense |
unknown |
|
|
R8198:Timm10b
|
UTSW |
7 |
105,327,537 (GRCm39) |
nonsense |
probably null |
|
|
R8305:Timm10b
|
UTSW |
7 |
105,289,876 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTATCACAGTGAGAGCCCC -3'
(R):5'- TCTAAAGAAGAGTGTGCTGAGC -3'
Sequencing Primer
(F):5'- ACAGTGAGAGCCCCCTGTG -3'
(R):5'- CTAAAGAAGAGTGTGCTGAGCCTTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation