Incidental Mutation 'R0676:Immt'
| ID |
61650 |
| 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 |
038861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R0676 (G1)
|
| Quality Score |
118 |
|
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: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,516 (GRCm39) |
|
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
C |
5: 9,043,622 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
C |
10: 64,245,040 (GRCm39) |
H451P |
probably benign |
Het |
| Cts6 |
C |
T |
13: 61,345,298 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,063 (GRCm39) |
T540A |
probably damaging |
Het |
| Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,374,169 (GRCm39) |
Y466N |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
| H4c9 |
T |
C |
13: 22,225,276 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,398 (GRCm39) |
D576V |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,944,729 (GRCm39) |
R627H |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
| Mapk9 |
T |
C |
11: 49,773,983 (GRCm39) |
*382Q |
probably null |
Het |
| Mn1 |
A |
G |
5: 111,568,900 (GRCm39) |
S957G |
possibly damaging |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,412 (GRCm39) |
M28L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
| Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,624,413 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
C |
T |
5: 53,803,390 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,555,047 (GRCm39) |
I387T |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,374,278 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,876,458 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
G |
A |
13: 34,379,462 (GRCm39) |
T435I |
probably damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,773,509 (GRCm39) |
|
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,750,733 (GRCm39) |
I114V |
probably benign |
Het |
| Tbc1d8b |
A |
G |
X: 138,613,025 (GRCm39) |
S284G |
possibly damaging |
Het |
| Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATCCTGAAGAAGCCTTTGGTAATGC -3'
(R):5'- TGTTCACAGTGAAGAAAGAGAGTGTGTC -3'
Sequencing Primer
(F):5'- GGTAATGCTAAAACATGGCTTAGTCC -3'
(R):5'- CATATACACAGAATAAAAGGCTGGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation