Incidental Mutation 'R1688:Immt'
ID |
189486 |
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 |
039721-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R1688 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71806200-71852250 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71833995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 208
(H208L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064062]
[ENSMUST00000101301]
[ENSMUST00000114151]
[ENSMUST00000165331]
[ENSMUST00000166938]
[ENSMUST00000166975]
[ENSMUST00000207003]
[ENSMUST00000171057]
|
AlphaFold |
Q8CAQ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064062
AA Change: H251L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066181 Gene: ENSMUSG00000052337 AA Change: H251L
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101301
AA Change: H240L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098859 Gene: ENSMUSG00000052337 AA Change: H240L
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114151
AA Change: H208L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109788 Gene: ENSMUSG00000052337 AA Change: H208L
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165331
AA Change: H219L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128834 Gene: ENSMUSG00000052337 AA Change: H219L
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
265 |
2.6e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166938
AA Change: H173L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128967 Gene: ENSMUSG00000052337 AA Change: H173L
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166975
AA Change: H173L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128367 Gene: ENSMUSG00000052337 AA Change: H173L
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: ENSMUST00000207003
AA Change: H208L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171057
|
SMART Domains |
Protein: ENSMUSP00000133017 Gene: ENSMUSG00000052337
Domain | Start | End | E-Value | Type |
Pfam:Mitofilin
|
40 |
188 |
4.8e-22 |
PFAM |
|
Meta Mutation Damage Score |
0.7838 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
C |
13: 61,002,695 (GRCm39) |
T20A |
probably benign |
Het |
Acaca |
T |
G |
11: 84,129,722 (GRCm39) |
V359G |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,226,061 (GRCm39) |
R1359* |
probably null |
Het |
Aggf1 |
T |
C |
13: 95,501,275 (GRCm39) |
E369G |
probably damaging |
Het |
Alkbh8 |
T |
A |
9: 3,382,765 (GRCm39) |
D418E |
probably damaging |
Het |
Alox8 |
T |
C |
11: 69,080,732 (GRCm39) |
D203G |
probably benign |
Het |
Ank |
A |
G |
15: 27,557,320 (GRCm39) |
D168G |
probably damaging |
Het |
Ap5m1 |
A |
G |
14: 49,318,291 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
A |
G |
10: 79,864,929 (GRCm39) |
Y964C |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,547,607 (GRCm39) |
D571G |
probably benign |
Het |
Bdh2 |
A |
T |
3: 135,007,399 (GRCm39) |
Y223F |
possibly damaging |
Het |
Bin1 |
T |
C |
18: 32,552,988 (GRCm39) |
|
probably benign |
Het |
Bin1 |
G |
A |
18: 32,558,025 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,316,779 (GRCm39) |
M1514L |
possibly damaging |
Het |
Cd109 |
T |
A |
9: 78,612,373 (GRCm39) |
F1253L |
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,426,843 (GRCm39) |
E1065V |
probably null |
Het |
Chmp2b |
T |
C |
16: 65,347,922 (GRCm39) |
N14S |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,258,093 (GRCm39) |
V2113A |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,849,794 (GRCm39) |
F1660L |
probably damaging |
Het |
Cyp2c37 |
T |
G |
19: 39,982,887 (GRCm39) |
|
probably null |
Het |
Daam1 |
A |
T |
12: 71,993,820 (GRCm39) |
I408F |
unknown |
Het |
Dsc3 |
T |
A |
18: 20,099,284 (GRCm39) |
D744V |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,117,093 (GRCm39) |
F379L |
probably damaging |
Het |
Ewsr1 |
G |
T |
11: 5,022,870 (GRCm39) |
D417E |
unknown |
Het |
Eya4 |
A |
T |
10: 22,999,759 (GRCm39) |
N424K |
probably damaging |
Het |
Gm9312 |
A |
C |
12: 24,301,920 (GRCm39) |
|
noncoding transcript |
Het |
Havcr2 |
T |
C |
11: 46,370,191 (GRCm39) |
I206T |
probably damaging |
Het |
Igfbp2 |
T |
C |
1: 72,864,125 (GRCm39) |
|
probably null |
Het |
Ikzf2 |
T |
C |
1: 69,581,439 (GRCm39) |
K196R |
possibly damaging |
Het |
Il12rb1 |
G |
A |
8: 71,272,046 (GRCm39) |
G587R |
probably damaging |
Het |
Kcnq2 |
C |
T |
2: 180,728,826 (GRCm39) |
V540I |
probably damaging |
Het |
Klk1b8 |
T |
A |
7: 43,595,229 (GRCm39) |
|
probably benign |
Het |
Mc2r |
T |
A |
18: 68,541,090 (GRCm39) |
I68F |
possibly damaging |
Het |
Neil3 |
T |
C |
8: 54,054,069 (GRCm39) |
E320G |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,329,494 (GRCm39) |
T276A |
probably damaging |
Het |
Nphp3 |
T |
C |
9: 103,880,323 (GRCm39) |
L115P |
probably damaging |
Het |
Nras |
T |
C |
3: 102,967,689 (GRCm39) |
L95P |
probably benign |
Het |
Ogt |
G |
A |
X: 100,699,296 (GRCm39) |
V190I |
probably damaging |
Het |
Or11h6 |
A |
T |
14: 50,880,705 (GRCm39) |
K322N |
probably benign |
Het |
Or5t17 |
A |
G |
2: 86,832,730 (GRCm39) |
Y139C |
probably benign |
Het |
P2ry6 |
T |
A |
7: 100,587,591 (GRCm39) |
H256L |
probably damaging |
Het |
Pcbp4 |
T |
C |
9: 106,338,533 (GRCm39) |
S153P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,838,507 (GRCm39) |
|
probably null |
Het |
Per2 |
A |
G |
1: 91,351,551 (GRCm39) |
L985P |
probably damaging |
Het |
Pgap6 |
C |
T |
17: 26,337,882 (GRCm39) |
A422V |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,753,710 (GRCm39) |
N1678S |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,350,450 (GRCm39) |
S432G |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,416,363 (GRCm39) |
D47V |
possibly damaging |
Het |
Ppp2cb |
A |
G |
8: 34,105,480 (GRCm39) |
I163M |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,739,700 (GRCm39) |
E577G |
probably benign |
Het |
Ptprd |
G |
T |
4: 75,900,921 (GRCm39) |
P1063T |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,514,656 (GRCm39) |
D866G |
probably benign |
Het |
Rdx |
T |
C |
9: 51,972,211 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
C |
T |
1: 153,680,422 (GRCm39) |
R760H |
probably damaging |
Het |
Rhno1 |
A |
G |
6: 128,334,897 (GRCm39) |
V142A |
probably benign |
Het |
Sema5a |
C |
T |
15: 32,669,570 (GRCm39) |
T698I |
probably benign |
Het |
Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
Slc22a3 |
A |
T |
17: 12,652,694 (GRCm39) |
M350K |
probably damaging |
Het |
Spata31d1b |
T |
A |
13: 59,863,274 (GRCm39) |
S141T |
possibly damaging |
Het |
Tada2a |
T |
C |
11: 83,975,585 (GRCm39) |
|
probably null |
Het |
Tspan10 |
A |
G |
11: 120,333,608 (GRCm39) |
M2V |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,685,391 (GRCm39) |
T566A |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,438,543 (GRCm39) |
Q1872R |
possibly damaging |
Het |
Zfp605 |
T |
A |
5: 110,276,907 (GRCm39) |
I675N |
possibly damaging |
Het |
Zkscan8 |
A |
T |
13: 21,704,324 (GRCm39) |
N538K |
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 |
|
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'- ATGCCTTCCTAAAATTGGGTCTTGTGT -3'
(R):5'- CCGTGGTTCACTGAAAGCGTATCTG -3'
Sequencing Primer
(F):5'- CCTTTTTCAGCTCTAGCCAAGAG -3'
(R):5'- cactgtgatttttgccagcc -3'
|
Posted On |
2014-05-14 |