Incidental Mutation 'R4543:Immt'
ID |
333621 |
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 |
041778-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R4543 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71806200-71852250 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71828762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 106
(S106P)
|
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: S106P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000066181 Gene: ENSMUSG00000052337 AA Change: S106P
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101301
AA Change: S106P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000098859 Gene: ENSMUSG00000052337 AA Change: S106P
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114151
AA Change: S106P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000109788 Gene: ENSMUSG00000052337 AA Change: S106P
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165331
AA Change: S106P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000128834 Gene: ENSMUSG00000052337 AA Change: S106P
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
265 |
2.6e-31 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166938
AA Change: S106P
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128967 Gene: ENSMUSG00000052337 AA Change: S106P
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166975
AA Change: S106P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000128367 Gene: ENSMUSG00000052337 AA Change: S106P
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
467 |
1.1e-78 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167244
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171057
AA Change: S106P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133017 Gene: ENSMUSG00000052337 AA Change: S106P
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
188 |
4.8e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207003
AA Change: S106P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Meta Mutation Damage Score |
0.1217 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
94% (44/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
possibly damaging |
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 |
R4393:Immt
|
UTSW |
6 |
71,849,784 (GRCm39) |
missense |
probably benign |
0.04 |
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'- CTGAAGAAGCCTTTGGTAATGC -3'
(R):5'- ATGAAGGAAAGCCACTCCTC -3'
Sequencing Primer
(F):5'- GCCTTTGGTAATGCTAAAACATGGC -3'
(R):5'- GAAAGCCACTCCTCTAACTTTAAATG -3'
|
Posted On |
2015-08-18 |