Incidental Mutation 'R3706:Immt'
| ID |
271768 |
| 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 |
040699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R3706 (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 71839346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 226
(M226T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064062]
[ENSMUST00000101301]
[ENSMUST00000114151]
[ENSMUST00000165331]
[ENSMUST00000166938]
[ENSMUST00000166975]
[ENSMUST00000207003]
|
| AlphaFold |
Q8CAQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064062
AA Change: M304T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000066181
Gene: ENSMUSG00000052337
AA Change: M304T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101301
AA Change: M293T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000098859
Gene: ENSMUSG00000052337
AA Change: M293T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114151
AA Change: M261T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109788
Gene: ENSMUSG00000052337
AA Change: M261T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165331
|
| SMART Domains |
Protein: ENSMUSP00000128834
Gene: ENSMUSG00000052337
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
265 |
2.6e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166938
AA Change: M226T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000128967
Gene: ENSMUSG00000052337
AA Change: M226T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166975
AA Change: M226T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128367
Gene: ENSMUSG00000052337
AA Change: M226T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
467 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205371
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207003
AA Change: M261T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Meta Mutation Damage Score |
0.0877 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,517,321 (GRCm39) |
K167M |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
| Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,663,843 (GRCm39) |
Y461* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
| Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
| Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
C |
A |
9: 77,887,119 (GRCm39) |
A170E |
probably null |
Het |
| Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
| Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,578,008 (GRCm39) |
I138N |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
| Mettl2 |
T |
A |
11: 105,030,552 (GRCm39) |
I376N |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,476 (GRCm39) |
L2Q |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
| Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
| Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,290 (GRCm39) |
I458V |
probably 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 |
|
|
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'- ACATAGAAACCGACAGAGGTCTC -3'
(R):5'- AACTTGTTTTGTGAAAGCGTGT -3'
Sequencing Primer
(F):5'- GAAACCGACAGAGGTCTCTTGTTC -3'
(R):5'- GGCATCACAGTCTATTACAGATGGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation