Incidental Mutation 'R0106:Immt'
ID |
17639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Immt
|
Ensembl Gene |
ENSMUSG00000052337 |
Gene Name |
inner membrane protein, mitochondrial |
Synonyms |
HMP, 1700082C19Rik, Micos60, D830041H16Rik, mitofilin, P87/89, P89, P87 |
MMRRC Submission |
038392-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R0106 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71806200-71852250 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71828828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 128
(S128G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145872
(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: S128G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000066181 Gene: ENSMUSG00000052337 AA Change: S128G
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101301
AA Change: S128G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000098859 Gene: ENSMUSG00000052337 AA Change: S128G
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114151
AA Change: S128G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000109788 Gene: ENSMUSG00000052337 AA Change: S128G
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165331
AA Change: S128G
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128834 Gene: ENSMUSG00000052337 AA Change: S128G
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
265 |
2.6e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166938
AA Change: S128G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000128967 Gene: ENSMUSG00000052337 AA Change: S128G
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166975
AA Change: S128G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000128367 Gene: ENSMUSG00000052337 AA Change: S128G
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: S128G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133017 Gene: ENSMUSG00000052337 AA Change: S128G
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
188 |
4.8e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207003
AA Change: S128G
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 87.6%
- 3x: 83.1%
- 10x: 68.0%
- 20x: 43.0%
|
Validation Efficiency |
97% (89/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
A |
T |
11: 43,478,200 (GRCm39) |
|
probably benign |
Het |
A730018C14Rik |
A |
T |
12: 112,381,628 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
A |
T |
11: 110,210,651 (GRCm39) |
L176Q |
probably damaging |
Het |
Aspm |
C |
A |
1: 139,404,614 (GRCm39) |
Q1315K |
probably benign |
Het |
Bpifb4 |
A |
G |
2: 153,782,888 (GRCm39) |
D31G |
probably benign |
Het |
Brf1 |
A |
G |
12: 112,937,083 (GRCm39) |
|
probably benign |
Het |
Card19 |
A |
C |
13: 49,361,621 (GRCm39) |
D3E |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,809,822 (GRCm39) |
F1480L |
probably damaging |
Het |
Cldn25 |
A |
G |
9: 48,958,933 (GRCm39) |
|
noncoding transcript |
Het |
Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
Cyp2g1 |
T |
A |
7: 26,513,607 (GRCm39) |
I182N |
probably damaging |
Het |
Dntt |
A |
T |
19: 41,044,185 (GRCm39) |
|
probably benign |
Het |
Dscc1 |
C |
A |
15: 54,946,966 (GRCm39) |
C253F |
probably benign |
Het |
Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,596,528 (GRCm39) |
|
probably benign |
Het |
Firrm |
T |
C |
1: 163,810,380 (GRCm39) |
|
probably benign |
Het |
Fkbp6 |
C |
T |
5: 135,368,858 (GRCm39) |
R234Q |
probably benign |
Het |
Gda |
T |
C |
19: 21,374,920 (GRCm39) |
D332G |
probably benign |
Het |
Ggt7 |
C |
T |
2: 155,336,813 (GRCm39) |
A560T |
possibly damaging |
Het |
Glis3 |
A |
T |
19: 28,509,268 (GRCm39) |
S239T |
possibly damaging |
Het |
Glyctk |
G |
A |
9: 106,033,168 (GRCm39) |
P124L |
probably benign |
Het |
Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
H13 |
A |
G |
2: 152,528,176 (GRCm39) |
K175R |
probably benign |
Het |
Igsf6 |
T |
A |
7: 120,673,677 (GRCm39) |
I18F |
probably benign |
Het |
Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,978,823 (GRCm39) |
|
probably benign |
Het |
L2hgdh |
A |
T |
12: 69,752,563 (GRCm39) |
Y239* |
probably null |
Het |
Lamp1 |
A |
G |
8: 13,224,550 (GRCm39) |
T405A |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,302,357 (GRCm39) |
T715I |
probably benign |
Het |
Mapk12 |
T |
C |
15: 89,017,187 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,763,480 (GRCm39) |
N205K |
probably damaging |
Het |
Nat10 |
A |
G |
2: 103,587,550 (GRCm39) |
V55A |
probably damaging |
Het |
Nlrp10 |
T |
C |
7: 108,524,529 (GRCm39) |
E317G |
possibly damaging |
Het |
Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
T |
C |
7: 45,687,056 (GRCm39) |
I72T |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,720 (GRCm39) |
I256V |
probably benign |
Het |
Pappa2 |
C |
T |
1: 158,542,547 (GRCm39) |
C1780Y |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,899,580 (GRCm39) |
M65V |
probably benign |
Het |
Pnisr |
T |
C |
4: 21,874,617 (GRCm39) |
|
probably benign |
Het |
Prss34 |
A |
T |
17: 25,517,700 (GRCm39) |
D25V |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,818,338 (GRCm39) |
|
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pygb |
A |
G |
2: 150,648,123 (GRCm39) |
D119G |
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,540,839 (GRCm39) |
T4A |
possibly damaging |
Het |
Rap1gap2 |
A |
G |
11: 74,326,570 (GRCm39) |
C166R |
probably benign |
Het |
Rbm28 |
C |
A |
6: 29,127,802 (GRCm39) |
V705L |
probably benign |
Het |
Rgs1 |
C |
T |
1: 144,124,287 (GRCm39) |
V50M |
probably benign |
Het |
Rgs12 |
C |
T |
5: 35,124,008 (GRCm39) |
T597I |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,018,363 (GRCm39) |
N765S |
possibly damaging |
Het |
Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
Slc6a7 |
A |
G |
18: 61,135,295 (GRCm39) |
V411A |
probably benign |
Het |
Slco1a6 |
A |
T |
6: 142,103,116 (GRCm39) |
|
probably benign |
Het |
Smc1b |
A |
T |
15: 84,955,020 (GRCm39) |
D1077E |
probably damaging |
Het |
Srek1 |
G |
A |
13: 103,880,131 (GRCm39) |
H476Y |
unknown |
Het |
Strn3 |
A |
G |
12: 51,668,571 (GRCm39) |
V673A |
probably benign |
Het |
Tepsin |
T |
C |
11: 119,982,637 (GRCm39) |
|
probably null |
Het |
Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,631,733 (GRCm39) |
V664A |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,800,277 (GRCm39) |
D602G |
probably damaging |
Het |
Trbv15 |
T |
C |
6: 41,118,199 (GRCm39) |
|
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,968,664 (GRCm39) |
|
probably null |
Het |
Wdr70 |
A |
T |
15: 8,049,068 (GRCm39) |
|
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 |
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 |
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 |
2013-01-31 |