Incidental Mutation 'IGL01974:Immt'
| ID |
181677 |
| 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: 0.955)
|
| Stock # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71806200-71852250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71849842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 454
(D454G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064062]
[ENSMUST00000101301]
[ENSMUST00000114151]
[ENSMUST00000166938]
[ENSMUST00000166975]
[ENSMUST00000207003]
|
| AlphaFold |
Q8CAQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064062
AA Change: D532G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066181
Gene: ENSMUSG00000052337
AA Change: D532G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101301
AA Change: D521G
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098859
Gene: ENSMUSG00000052337
AA Change: D521G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114151
AA Change: D484G
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109788
Gene: ENSMUSG00000052337
AA Change: D484G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166938
AA Change: D454G
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128967
Gene: ENSMUSG00000052337
AA Change: D454G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166975
AA Change: D454G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128367
Gene: ENSMUSG00000052337
AA Change: D454G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
467 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205628
AA Change: D29G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207015
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206625
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,762 (GRCm39) |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,667,001 (GRCm39) |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,394,621 (GRCm39) |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,902,064 (GRCm39) |
Q91R |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,842 (GRCm39) |
Y313C |
probably damaging |
Het |
| Clint1 |
C |
A |
11: 45,799,862 (GRCm39) |
N558K |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,180,777 (GRCm39) |
H147R |
probably benign |
Het |
| Ednrb |
A |
C |
14: 104,058,254 (GRCm39) |
Y350D |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,759,260 (GRCm39) |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,063,020 (GRCm39) |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,603,197 (GRCm39) |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,135,020 (GRCm39) |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 8,950,088 (GRCm39) |
N211S |
possibly damaging |
Het |
| Itga4 |
G |
A |
2: 79,103,471 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,387,596 (GRCm39) |
N423I |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,571,352 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,380,647 (GRCm39) |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,740,583 (GRCm39) |
V30A |
probably benign |
Het |
| Or8k17 |
G |
T |
2: 86,066,304 (GRCm39) |
L292I |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,351,440 (GRCm39) |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,449,255 (GRCm39) |
Y91F |
probably benign |
Het |
| Sertad4 |
C |
A |
1: 192,529,274 (GRCm39) |
E181* |
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,105 (GRCm39) |
C502* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,421 (GRCm39) |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,616,564 (GRCm39) |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,417,642 (GRCm39) |
S500Y |
probably benign |
Het |
|
| Other mutations in Immt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02085:Immt
|
APN |
6 |
71,828,820 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
2014-05-07 |
Incidental Mutation