Incidental Mutation 'R6972:Afg1l'
| ID |
542307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg1l
|
| Ensembl Gene |
ENSMUSG00000038302 |
| Gene Name |
AFG1 like ATPase |
| Synonyms |
Lace1 |
| MMRRC Submission |
045082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6972 (G1)
|
| Quality Score |
160.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
42188581-42354561 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42354370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 10
(T10A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041024]
[ENSMUST00000133326]
|
| AlphaFold |
Q3V384 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041024
AA Change: T10A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: T10A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
Pfam:AFG1_ATPase
|
74 |
432 |
4.4e-110 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133326
AA Change: T10A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: T10A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
Pfam:AFG1_ATPase
|
73 |
272 |
2e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151747
|
| SMART Domains |
Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AFG1_ATPase
|
5 |
300 |
2e-97 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
| Calcrl |
T |
G |
2: 84,198,922 (GRCm39) |
I156L |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,246,543 (GRCm39) |
S122G |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
G |
11: 77,390,347 (GRCm39) |
V64G |
probably damaging |
Het |
| Gpr162 |
C |
T |
6: 124,838,272 (GRCm39) |
R126H |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
| Lmcd1 |
C |
T |
6: 112,287,659 (GRCm39) |
T115I |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plscr3 |
G |
A |
11: 69,738,784 (GRCm39) |
E149K |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
| Ptprj |
G |
A |
2: 90,410,747 (GRCm39) |
S62F |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
| Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
|
| Other mutations in Afg1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01863:Afg1l
|
APN |
10 |
42,215,907 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02041:Afg1l
|
APN |
10 |
42,330,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02309:Afg1l
|
APN |
10 |
42,330,374 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02323:Afg1l
|
APN |
10 |
42,330,506 (GRCm39) |
nonsense |
probably null |
|
|
IGL03088:Afg1l
|
APN |
10 |
42,302,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4458001:Afg1l
|
UTSW |
10 |
42,330,366 (GRCm39) |
nonsense |
probably null |
|
|
R0969:Afg1l
|
UTSW |
10 |
42,194,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Afg1l
|
UTSW |
10 |
42,302,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Afg1l
|
UTSW |
10 |
42,276,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Afg1l
|
UTSW |
10 |
42,330,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2941:Afg1l
|
UTSW |
10 |
42,354,291 (GRCm39) |
splice site |
probably null |
|
|
R4846:Afg1l
|
UTSW |
10 |
42,330,490 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4887:Afg1l
|
UTSW |
10 |
42,330,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5668:Afg1l
|
UTSW |
10 |
42,236,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Afg1l
|
UTSW |
10 |
42,194,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Afg1l
|
UTSW |
10 |
42,194,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Afg1l
|
UTSW |
10 |
42,301,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Afg1l
|
UTSW |
10 |
42,291,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7577:Afg1l
|
UTSW |
10 |
42,194,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Afg1l
|
UTSW |
10 |
42,302,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8824:Afg1l
|
UTSW |
10 |
42,314,383 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9032:Afg1l
|
UTSW |
10 |
42,194,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Afg1l
|
UTSW |
10 |
42,194,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9443:Afg1l
|
UTSW |
10 |
42,189,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Afg1l
|
UTSW |
10 |
42,354,349 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCAATAGACACGAACTCG -3'
(R):5'- TTGCAGCCTTTCTAAGCTTGAGG -3'
Sequencing Primer
(F):5'- GGATCCTTACAACTTGTGAAGCC -3'
(R):5'- AAGCTTGAGGTCATCTCTCTTTAACG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation