Incidental Mutation 'R4393:Immt'
ID |
326466 |
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 |
041128-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R4393 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71806200-71852250 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71849784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 435
(S435T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064062]
[ENSMUST00000101301]
[ENSMUST00000114151]
[ENSMUST00000166938]
[ENSMUST00000166975]
[ENSMUST00000207003]
|
AlphaFold |
Q8CAQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064062
AA Change: S513T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000066181 Gene: ENSMUSG00000052337 AA Change: S513T
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101301
AA Change: S502T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000098859 Gene: ENSMUSG00000052337 AA Change: S502T
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114151
AA Change: S465T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000109788 Gene: ENSMUSG00000052337 AA Change: S465T
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166938
AA Change: S435T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000128967 Gene: ENSMUSG00000052337 AA Change: S435T
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166975
AA Change: S435T
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000128367 Gene: ENSMUSG00000052337 AA Change: S435T
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
467 |
1.1e-78 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000205628
AA Change: S10T
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206330
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207003
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207015
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206836
|
Meta Mutation Damage Score |
0.0778 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.5%
- 20x: 92.4%
|
Validation Efficiency |
95% (71/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
C |
A |
9: 3,134,944 (GRCm39) |
|
noncoding transcript |
Het |
Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,665,222 (GRCm39) |
V1353A |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,188,544 (GRCm39) |
N620K |
probably benign |
Het |
Clcnkb |
A |
G |
4: 141,139,547 (GRCm39) |
S152P |
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
Cyp26c1 |
G |
A |
19: 37,675,105 (GRCm39) |
R142H |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,228,057 (GRCm39) |
|
probably null |
Het |
Dnai7 |
T |
C |
6: 145,140,304 (GRCm39) |
T166A |
possibly damaging |
Het |
Ebf3 |
C |
T |
7: 136,826,886 (GRCm39) |
R342H |
probably damaging |
Het |
Ece2 |
T |
C |
16: 20,451,598 (GRCm39) |
V380A |
probably damaging |
Het |
Epb41l4a |
C |
T |
18: 34,024,473 (GRCm39) |
|
probably null |
Het |
Erbb3 |
G |
T |
10: 128,408,639 (GRCm39) |
Q815K |
probably damaging |
Het |
Ercc3 |
T |
A |
18: 32,398,674 (GRCm39) |
M651K |
probably benign |
Het |
Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
Foxp2 |
A |
C |
6: 15,377,689 (GRCm39) |
|
probably benign |
Het |
Gdf10 |
T |
C |
14: 33,654,695 (GRCm39) |
Y401H |
probably damaging |
Het |
Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
Gm6408 |
A |
T |
5: 146,419,147 (GRCm39) |
D54V |
probably damaging |
Het |
H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,751,583 (GRCm39) |
E403G |
unknown |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
Il11ra1 |
T |
C |
4: 41,768,577 (GRCm39) |
|
probably null |
Het |
Kcnip2 |
A |
G |
19: 45,800,669 (GRCm39) |
L19P |
probably benign |
Het |
Kctd2 |
T |
C |
11: 115,320,326 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,754,482 (GRCm39) |
T4666M |
possibly damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,978,676 (GRCm39) |
E350G |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,467,866 (GRCm39) |
K373N |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,584,231 (GRCm39) |
E396G |
probably damaging |
Het |
Ogdh |
G |
A |
11: 6,266,772 (GRCm39) |
G141D |
probably damaging |
Het |
Or10q1b |
T |
C |
19: 13,682,554 (GRCm39) |
I121T |
possibly damaging |
Het |
Or2h2c |
T |
C |
17: 37,424,971 (GRCm39) |
|
probably benign |
Het |
Or5w1b |
A |
T |
2: 87,476,256 (GRCm39) |
C70* |
probably null |
Het |
Orc2 |
C |
A |
1: 58,506,809 (GRCm39) |
|
probably null |
Het |
P4ha3 |
C |
T |
7: 99,954,814 (GRCm39) |
P291S |
probably benign |
Het |
Pign |
T |
C |
1: 105,449,751 (GRCm39) |
K925R |
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,267,791 (GRCm39) |
S727P |
possibly damaging |
Het |
Prr36 |
G |
T |
8: 4,264,901 (GRCm39) |
|
probably benign |
Het |
Prrt3 |
A |
G |
6: 113,471,907 (GRCm39) |
L755P |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,808,502 (GRCm39) |
H89R |
probably damaging |
Het |
Sgms2 |
A |
T |
3: 131,135,466 (GRCm39) |
|
probably null |
Het |
Slc35d3 |
T |
C |
10: 19,725,352 (GRCm39) |
|
probably null |
Het |
Slu7 |
T |
A |
11: 43,330,096 (GRCm39) |
N174K |
possibly damaging |
Het |
Teddm1a |
G |
T |
1: 153,768,192 (GRCm39) |
D219Y |
probably damaging |
Het |
Tgtp1 |
C |
A |
11: 48,878,450 (GRCm39) |
G85V |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,759,242 (GRCm39) |
T169A |
probably benign |
Het |
Tmem69 |
C |
T |
4: 116,411,964 (GRCm39) |
|
probably null |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Vwa3b |
T |
C |
1: 37,084,259 (GRCm39) |
V144A |
probably damaging |
Het |
Zdhhc21 |
A |
G |
4: 82,765,891 (GRCm39) |
C15R |
possibly damaging |
Het |
Zfp142 |
T |
C |
1: 74,611,219 (GRCm39) |
T756A |
probably benign |
Het |
Zfp606 |
C |
T |
7: 12,226,776 (GRCm39) |
S241F |
probably damaging |
Het |
Zfp804a |
A |
T |
2: 82,087,265 (GRCm39) |
T365S |
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 |
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 |
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'- TACAACATTGCAGCTGTTTTGG -3'
(R):5'- AGAAACTGTACAGGGTCAGACC -3'
Sequencing Primer
(F):5'- CTGGAACTTGCTGTAGACCAGAC -3'
(R):5'- CTGTACAGGGTCAGACCATAGC -3'
|
Posted On |
2015-07-06 |