Incidental Mutation 'IGL02085:Immt'
| ID |
283519 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Immt
|
| Ensembl Gene |
ENSMUSG00000052337 |
| Gene Name |
inner membrane protein, mitochondrial |
| Synonyms |
HMP, 1700082C19Rik, Micos60, D830041H16Rik, mitofilin, P87/89, P89, P87 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL02085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71806200-71852250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71828820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 125
(V125E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064062]
[ENSMUST00000101301]
[ENSMUST00000114151]
[ENSMUST00000165331]
[ENSMUST00000166938]
[ENSMUST00000166975]
[ENSMUST00000171057]
[ENSMUST00000207003]
|
| AlphaFold |
Q8CAQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064062
AA Change: V125E
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000066181
Gene: ENSMUSG00000052337
AA Change: V125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101301
AA Change: V125E
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098859
Gene: ENSMUSG00000052337
AA Change: V125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114151
AA Change: V125E
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109788
Gene: ENSMUSG00000052337
AA Change: V125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165331
AA Change: V125E
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128834
Gene: ENSMUSG00000052337
AA Change: V125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
265 |
2.6e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166938
AA Change: V125E
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128967
Gene: ENSMUSG00000052337
AA Change: V125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166975
AA Change: V125E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128367
Gene: ENSMUSG00000052337
AA Change: V125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
467 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167244
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171057
AA Change: V125E
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133017
Gene: ENSMUSG00000052337
AA Change: V125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
188 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207003
AA Change: V125E
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
| Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
| Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
| Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,582,144 (GRCm39) |
V194A |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,500,586 (GRCm39) |
T524A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,191 (GRCm39) |
C319* |
probably null |
Het |
| Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
| Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
| Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
| Ints13 |
T |
C |
6: 146,451,437 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,159,699 (GRCm39) |
T404M |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
| Nsmaf |
G |
A |
4: 6,398,551 (GRCm39) |
P851L |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
| Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
| Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
| Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
| Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
| Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
| Slco6d1 |
C |
A |
1: 98,371,468 (GRCm39) |
P275T |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
| Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
| Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
| Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
| Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
probably null |
Het |
|
| Other mutations in Immt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01974:Immt
|
APN |
6 |
71,849,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02493:Immt
|
APN |
6 |
71,821,700 (GRCm39) |
splice site |
probably benign |
|
|
Glut
|
UTSW |
6 |
71,838,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0045:Immt
|
UTSW |
6 |
71,845,601 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0106:Immt
|
UTSW |
6 |
71,828,828 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0106:Immt
|
UTSW |
6 |
71,828,828 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0565:Immt
|
UTSW |
6 |
71,823,467 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Immt
|
UTSW |
6 |
71,848,541 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0676:Immt
|
UTSW |
6 |
71,828,828 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0718:Immt
|
UTSW |
6 |
71,840,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0789:Immt
|
UTSW |
6 |
71,838,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Immt
|
UTSW |
6 |
71,851,310 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1332:Immt
|
UTSW |
6 |
71,823,256 (GRCm39) |
splice site |
probably benign |
|
|
R1688:Immt
|
UTSW |
6 |
71,833,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Immt
|
UTSW |
6 |
71,848,499 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2149:Immt
|
UTSW |
6 |
71,821,659 (GRCm39) |
nonsense |
probably null |
|
|
R3706:Immt
|
UTSW |
6 |
71,839,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4393:Immt
|
UTSW |
6 |
71,849,784 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4543:Immt
|
UTSW |
6 |
71,828,762 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4645:Immt
|
UTSW |
6 |
71,833,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Immt
|
UTSW |
6 |
71,829,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5535:Immt
|
UTSW |
6 |
71,829,768 (GRCm39) |
missense |
probably null |
1.00 |
|
R5920:Immt
|
UTSW |
6 |
71,840,180 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7002:Immt
|
UTSW |
6 |
71,838,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Immt
|
UTSW |
6 |
71,851,689 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7326:Immt
|
UTSW |
6 |
71,823,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7949:Immt
|
UTSW |
6 |
71,851,327 (GRCm39) |
nonsense |
probably null |
|
|
R8185:Immt
|
UTSW |
6 |
71,849,835 (GRCm39) |
nonsense |
probably null |
|
|
R8200:Immt
|
UTSW |
6 |
71,848,421 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8444:Immt
|
UTSW |
6 |
71,848,492 (GRCm39) |
nonsense |
probably null |
|
|
R8828:Immt
|
UTSW |
6 |
71,829,762 (GRCm39) |
nonsense |
probably null |
|
|
R9135:Immt
|
UTSW |
6 |
71,851,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Immt
|
UTSW |
6 |
71,851,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Immt
|
UTSW |
6 |
71,823,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation