Incidental Mutation 'R8532:Timm44'
| ID |
659106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Timm44
|
| Ensembl Gene |
ENSMUSG00000002949 |
| Gene Name |
translocase of inner mitochondrial membrane 44 |
| Synonyms |
D8Ertd118e, Mimt44, 0710005E20Rik, Tim44 |
| MMRRC Submission |
068502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4309731-4325905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4310549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 401
(I401N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003029]
[ENSMUST00000011981]
[ENSMUST00000053252]
[ENSMUST00000208316]
[ENSMUST00000208459]
|
| AlphaFold |
O35857 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003029
AA Change: I401N
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: I401N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
60 |
117 |
N/A |
INTRINSIC |
|
Tim44
|
296 |
445 |
9.67e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011981
|
| SMART Domains |
Protein: ENSMUSP00000011981
Gene: ENSMUSG00000011837
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SnAPC_2_like
|
1 |
356 |
5.9e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053252
|
| SMART Domains |
Protein: ENSMUSP00000057115
Gene: ENSMUSG00000048644
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cortexin
|
7 |
82 |
7.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208459
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
A |
2: 69,090,035 (GRCm39) |
V950L |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,218,001 (GRCm39) |
V238E |
probably damaging |
Het |
| Adam2 |
C |
A |
14: 66,293,970 (GRCm39) |
A286S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,412,679 (GRCm39) |
I1215N |
probably damaging |
Het |
| Anxa2 |
T |
C |
9: 69,374,594 (GRCm39) |
Y24H |
probably benign |
Het |
| Brms1l |
T |
C |
12: 55,891,264 (GRCm39) |
L106P |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,341,510 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,396,032 (GRCm39) |
L641P |
probably damaging |
Het |
| Cep78 |
T |
A |
19: 15,936,948 (GRCm39) |
D586V |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,630,988 (GRCm39) |
D142G |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,097,912 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
T |
C |
16: 20,323,956 (GRCm39) |
V433A |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,070,302 (GRCm39) |
Y868* |
probably null |
Het |
| Fam149a |
T |
A |
8: 45,801,991 (GRCm39) |
T414S |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm3604 |
A |
T |
13: 62,516,769 (GRCm39) |
C530S |
possibly damaging |
Het |
| Gtf2e2 |
T |
C |
8: 34,248,633 (GRCm39) |
F140S |
probably damaging |
Het |
| Ighv1-63 |
T |
C |
12: 115,459,270 (GRCm39) |
D109G |
probably damaging |
Het |
| Igkv3-9 |
G |
C |
6: 70,565,706 (GRCm39) |
V102L |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,087,656 (GRCm39) |
Q276* |
probably null |
Het |
| Lrba |
C |
T |
3: 86,664,790 (GRCm39) |
R557C |
probably damaging |
Het |
| Matn2 |
C |
A |
15: 34,316,699 (GRCm39) |
Q14K |
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,917,751 (GRCm39) |
F369L |
probably damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
| Or52e8b |
T |
C |
7: 104,673,773 (GRCm39) |
Y138C |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,820,913 (GRCm39) |
T153A |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,125,125 (GRCm39) |
T350A |
probably benign |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,973 (GRCm39) |
C72* |
probably null |
Het |
| Ros1 |
T |
G |
10: 51,974,852 (GRCm39) |
T1578P |
possibly damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,209,243 (GRCm39) |
I200N |
probably damaging |
Het |
| Slc17a4 |
C |
A |
13: 24,088,718 (GRCm39) |
W223L |
probably damaging |
Het |
| Slitrk5 |
A |
T |
14: 111,916,909 (GRCm39) |
M178L |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,027 (GRCm39) |
|
probably null |
Het |
| Syt10 |
C |
T |
15: 89,676,889 (GRCm39) |
E366K |
probably damaging |
Het |
| Tbc1d16 |
A |
G |
11: 119,045,993 (GRCm39) |
F484L |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,335 (GRCm39) |
W566R |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,655,065 (GRCm39) |
I551K |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 46,016,920 (GRCm39) |
T654A |
probably damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,515 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb11 |
A |
T |
16: 55,811,252 (GRCm39) |
H470L |
probably benign |
Het |
| Zfp57 |
A |
G |
17: 37,320,793 (GRCm39) |
T213A |
possibly damaging |
Het |
| Zfp715 |
A |
C |
7: 42,948,829 (GRCm39) |
I377S |
possibly damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,134 (GRCm39) |
D275E |
probably benign |
Het |
|
| Other mutations in Timm44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01544:Timm44
|
APN |
8 |
4,325,888 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01768:Timm44
|
APN |
8 |
4,316,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02336:Timm44
|
APN |
8 |
4,317,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lassie
|
UTSW |
8 |
4,310,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Togo
|
UTSW |
8 |
4,320,019 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0505:Timm44
|
UTSW |
8 |
4,310,532 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Timm44
|
UTSW |
8 |
4,316,592 (GRCm39) |
missense |
probably benign |
|
|
R1842:Timm44
|
UTSW |
8 |
4,310,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1965:Timm44
|
UTSW |
8 |
4,310,603 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2243:Timm44
|
UTSW |
8 |
4,317,871 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2318:Timm44
|
UTSW |
8 |
4,318,307 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2518:Timm44
|
UTSW |
8 |
4,316,588 (GRCm39) |
missense |
probably null |
1.00 |
|
R4049:Timm44
|
UTSW |
8 |
4,310,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4489:Timm44
|
UTSW |
8 |
4,316,654 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4803:Timm44
|
UTSW |
8 |
4,317,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5001:Timm44
|
UTSW |
8 |
4,325,886 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5260:Timm44
|
UTSW |
8 |
4,325,919 (GRCm39) |
splice site |
probably null |
|
|
R5335:Timm44
|
UTSW |
8 |
4,316,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Timm44
|
UTSW |
8 |
4,319,992 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5602:Timm44
|
UTSW |
8 |
4,316,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5700:Timm44
|
UTSW |
8 |
4,324,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Timm44
|
UTSW |
8 |
4,317,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6186:Timm44
|
UTSW |
8 |
4,316,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:Timm44
|
UTSW |
8 |
4,317,988 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6823:Timm44
|
UTSW |
8 |
4,317,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Timm44
|
UTSW |
8 |
4,316,611 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7183:Timm44
|
UTSW |
8 |
4,317,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7844:Timm44
|
UTSW |
8 |
4,319,976 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8209:Timm44
|
UTSW |
8 |
4,316,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8785:Timm44
|
UTSW |
8 |
4,320,019 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9003:Timm44
|
UTSW |
8 |
4,324,204 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9262:Timm44
|
UTSW |
8 |
4,310,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Timm44
|
UTSW |
8 |
4,310,576 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9759:Timm44
|
UTSW |
8 |
4,317,707 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Timm44
|
UTSW |
8 |
4,318,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGGTCAGATGAAACGG -3'
(R):5'- ATACCTTTAGCACGGCAAAGTG -3'
Sequencing Primer
(F):5'- CAGATGAAACGGTGCTCTGACTTC -3'
(R):5'- CTTTAGCACGGCAAAGTGTCAGAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation