Incidental Mutation 'R7266:Immt'
| ID |
564924 |
| 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 |
045389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R7266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71806200-71852250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71851689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 683
(D683E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066181
(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: D683E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066181
Gene: ENSMUSG00000052337
AA Change: D683E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
745 |
5e-207 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101301
AA Change: D672E
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098859
Gene: ENSMUSG00000052337
AA Change: D672E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
734 |
3.9e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114151
AA Change: D635E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109788
Gene: ENSMUSG00000052337
AA Change: D635E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
697 |
1.3e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166938
AA Change: D605E
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128967
Gene: ENSMUSG00000052337
AA Change: D605E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
667 |
3.6e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166975
|
| SMART Domains |
Protein: ENSMUSP00000128367
Gene: ENSMUSG00000052337
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitofilin
|
40 |
467 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205628
AA Change: D180E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207003
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
A |
8: 25,157,639 (GRCm39) |
I104F |
probably benign |
Het |
| Adgrg7 |
C |
T |
16: 56,590,674 (GRCm39) |
V166I |
probably benign |
Het |
| Agfg1 |
G |
T |
1: 82,859,966 (GRCm39) |
V278L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,328 (GRCm39) |
E715G |
possibly damaging |
Het |
| Ap2m1 |
A |
G |
16: 20,362,095 (GRCm39) |
Y401C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,101,960 (GRCm39) |
S838N |
probably benign |
Het |
| Ash2l |
A |
T |
8: 26,317,233 (GRCm39) |
Y373* |
probably null |
Het |
| Best2 |
C |
T |
8: 85,734,393 (GRCm39) |
V442I |
probably benign |
Het |
| Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,175,856 (GRCm39) |
D1619V |
probably damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,499,446 (GRCm39) |
N1272I |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,417,995 (GRCm39) |
*779C |
probably null |
Het |
| Gm12216 |
G |
A |
11: 53,750,077 (GRCm39) |
|
probably benign |
Het |
| Grm2 |
C |
T |
9: 106,524,370 (GRCm39) |
V311I |
|
Het |
| Itga8 |
T |
G |
2: 12,237,712 (GRCm39) |
D336A |
probably damaging |
Het |
| Jhy |
T |
C |
9: 40,872,453 (GRCm39) |
T19A |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,776,885 (GRCm39) |
M1V |
probably null |
Het |
| Kctd17 |
A |
T |
15: 78,317,214 (GRCm39) |
I117F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,484,364 (GRCm39) |
T420A |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,223,673 (GRCm39) |
S187P |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,616,938 (GRCm39) |
D13V |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,902,963 (GRCm39) |
F145L |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,922,497 (GRCm39) |
D551E |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,973 (GRCm39) |
V154A |
possibly damaging |
Het |
| Myo10 |
C |
G |
15: 25,783,067 (GRCm39) |
R1170G |
probably damaging |
Het |
| Myo16 |
A |
C |
8: 10,322,687 (GRCm39) |
Q39P |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,820,668 (GRCm39) |
E837G |
probably benign |
Het |
| Nell2 |
T |
A |
15: 95,333,274 (GRCm39) |
I128F |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,448 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,215,222 (GRCm39) |
R659* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,028 (GRCm39) |
Q881R |
possibly damaging |
Het |
| Plekhm2 |
T |
G |
4: 141,369,770 (GRCm39) |
E75A |
possibly damaging |
Het |
| Prc1 |
A |
G |
7: 79,957,405 (GRCm39) |
K357E |
possibly damaging |
Het |
| Pxk |
T |
A |
14: 8,146,220 (GRCm38) |
C377S |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,176,488 (GRCm39) |
E1696G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,600,590 (GRCm39) |
S1532R |
unknown |
Het |
| Scn5a |
G |
T |
9: 119,391,626 (GRCm39) |
A22E |
probably benign |
Het |
| Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
| Siae |
T |
C |
9: 37,534,309 (GRCm39) |
V115A |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,344,107 (GRCm39) |
C563R |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,752,243 (GRCm39) |
V58G |
possibly damaging |
Het |
| Snx11 |
C |
T |
11: 96,663,985 (GRCm39) |
V36M |
probably damaging |
Het |
| Stk3 |
C |
A |
15: 34,959,182 (GRCm39) |
S330I |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,762,631 (GRCm39) |
F92S |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,057,924 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
A |
G |
15: 94,829,684 (GRCm39) |
D173G |
possibly damaging |
Het |
| Tmem217b |
C |
A |
17: 29,738,347 (GRCm39) |
V140L |
probably benign |
Het |
| Tmprss5 |
T |
C |
9: 49,025,841 (GRCm39) |
W338R |
probably benign |
Het |
| Tnfrsf19 |
T |
C |
14: 61,212,147 (GRCm39) |
T168A |
possibly damaging |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trim56 |
G |
T |
5: 137,143,097 (GRCm39) |
Q140K |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,562,918 (GRCm39) |
V28679M |
probably damaging |
Het |
| Ubxn8 |
G |
A |
8: 34,113,231 (GRCm39) |
R208C |
probably damaging |
Het |
| Vmn2r72 |
G |
T |
7: 85,387,482 (GRCm39) |
S694* |
probably null |
Het |
| Wdr38 |
T |
A |
2: 38,890,276 (GRCm39) |
W137R |
probably damaging |
Het |
| Zdhhc6 |
G |
T |
19: 55,292,932 (GRCm39) |
N271K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,575,744 (GRCm39) |
S446P |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,649,492 (GRCm39) |
Q867R |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,402 (GRCm39) |
I294T |
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 |
|
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 |
|
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'- AAGAGACCCTAAGAGCCCGTTTC -3'
(R):5'- AGGCCTTACTCTTGCTGCAC -3'
Sequencing Primer
(F):5'- AAGAGCCCGTTTCTATGCTG -3'
(R):5'- CGTATGCAGTCAGGATCTCCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation