Incidental Mutation 'R5427:Atg4b'
| ID |
426933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg4b
|
| Ensembl Gene |
ENSMUSG00000026280 |
| Gene Name |
autophagy related 4B, cysteine peptidase |
| Synonyms |
2510009N07Rik, autophagin 1, Apg4b |
| MMRRC Submission |
042993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93682627-93717328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 93702928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 86
(K86N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027502]
[ENSMUST00000149436]
[ENSMUST00000185482]
[ENSMUST00000187824]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027502
AA Change: K119N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280
AA Change: K119N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C54
|
39 |
335 |
4.4e-104 |
PFAM |
|
low complexity region
|
375 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135762
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149436
AA Change: K122N
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123383
Gene: ENSMUSG00000026280
AA Change: K122N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C54
|
42 |
150 |
6.9e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185482
AA Change: K119N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140758
Gene: ENSMUSG00000026280
AA Change: K119N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C54
|
36 |
137 |
2.3e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186001
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187824
AA Change: K86N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139541
Gene: ENSMUSG00000026280
AA Change: K86N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C54
|
61 |
121 |
1.5e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.4997 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,248,385 (GRCm39) |
V277A |
possibly damaging |
Het |
| Adcy7 |
G |
A |
8: 89,052,829 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
A |
T |
8: 95,661,730 (GRCm39) |
D157V |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,378,617 (GRCm39) |
N2090S |
possibly damaging |
Het |
| Alpi |
T |
C |
1: 87,029,076 (GRCm39) |
N33D |
probably benign |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,284,598 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
C |
16: 50,100,860 (GRCm39) |
T12A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,414,275 (GRCm39) |
T377A |
possibly damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,796,821 (GRCm39) |
Q505R |
probably damaging |
Het |
| Cep135 |
T |
A |
5: 76,786,049 (GRCm39) |
S1051T |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,667,593 (GRCm39) |
D109G |
probably damaging |
Het |
| Crym |
A |
C |
7: 119,798,445 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
T |
A |
15: 78,173,111 (GRCm39) |
S250C |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,023,648 (GRCm39) |
V730E |
unknown |
Het |
| Eci3 |
G |
T |
13: 35,143,931 (GRCm39) |
L65M |
possibly damaging |
Het |
| Erg28 |
T |
C |
12: 85,866,341 (GRCm39) |
N46D |
probably damaging |
Het |
| Fam89b |
A |
G |
19: 5,778,819 (GRCm39) |
S127P |
probably benign |
Het |
| Fign |
A |
G |
2: 63,809,342 (GRCm39) |
Y643H |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,788,741 (GRCm39) |
V265A |
probably benign |
Het |
| Gclm |
T |
C |
3: 122,059,976 (GRCm39) |
V252A |
probably damaging |
Het |
| Git2 |
A |
G |
5: 114,868,389 (GRCm39) |
S584P |
possibly damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,421,059 (GRCm39) |
|
probably null |
Het |
| Kcnk3 |
A |
G |
5: 30,779,639 (GRCm39) |
T230A |
possibly damaging |
Het |
| Mettl25b |
T |
C |
3: 87,831,639 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
T |
C |
11: 68,693,757 (GRCm39) |
L1486P |
probably damaging |
Het |
| Myom2 |
C |
A |
8: 15,163,764 (GRCm39) |
A1006E |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nampt |
A |
T |
12: 32,884,914 (GRCm39) |
H111L |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,658,268 (GRCm39) |
Y671C |
probably damaging |
Het |
| Npy5r |
G |
A |
8: 67,133,672 (GRCm39) |
R374C |
probably damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,858 (GRCm39) |
K244N |
probably benign |
Het |
| Or5b123 |
A |
T |
19: 13,596,714 (GRCm39) |
S20C |
probably benign |
Het |
| Palld |
C |
T |
8: 62,003,106 (GRCm39) |
C720Y |
probably benign |
Het |
| Pcsk6 |
C |
T |
7: 65,683,647 (GRCm39) |
T606M |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,979 (GRCm39) |
I176M |
possibly damaging |
Het |
| Pi4kb |
A |
G |
3: 94,901,518 (GRCm39) |
D395G |
probably benign |
Het |
| Plod3 |
A |
T |
5: 137,020,642 (GRCm39) |
Y547F |
probably damaging |
Het |
| Plscr1l1 |
G |
A |
9: 92,234,649 (GRCm39) |
C128Y |
probably benign |
Het |
| Pnpo |
T |
C |
11: 96,834,633 (GRCm39) |
Y21C |
probably benign |
Het |
| Rgs1 |
A |
T |
1: 144,122,018 (GRCm39) |
C118* |
probably null |
Het |
| Slc22a27 |
A |
G |
19: 7,856,753 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,078,693 (GRCm39) |
V498I |
probably benign |
Het |
| Stim2 |
A |
T |
5: 54,268,281 (GRCm39) |
I448F |
possibly damaging |
Het |
| Sulf1 |
A |
T |
1: 12,867,136 (GRCm39) |
T107S |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,689,599 (GRCm39) |
V1996A |
probably damaging |
Het |
| Timm23 |
G |
A |
14: 31,911,103 (GRCm39) |
T171I |
possibly damaging |
Het |
| Tssk2 |
A |
G |
16: 17,716,729 (GRCm39) |
D44G |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,376 (GRCm39) |
Y488N |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,333 (GRCm39) |
V668A |
possibly damaging |
Het |
| Zbtb48 |
A |
G |
4: 152,105,108 (GRCm39) |
F518S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,642,976 (GRCm39) |
E135G |
probably benign |
Het |
| Zfp788 |
G |
A |
7: 41,299,076 (GRCm39) |
V571I |
possibly damaging |
Het |
| Zfp963 |
A |
G |
8: 70,196,106 (GRCm39) |
S116P |
probably benign |
Het |
|
| Other mutations in Atg4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01832:Atg4b
|
APN |
1 |
93,713,626 (GRCm39) |
splice site |
probably benign |
|
|
IGL01875:Atg4b
|
APN |
1 |
93,706,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Atg4b
|
APN |
1 |
93,715,437 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0050:Atg4b
|
UTSW |
1 |
93,715,440 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0050:Atg4b
|
UTSW |
1 |
93,715,440 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0387:Atg4b
|
UTSW |
1 |
93,714,278 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0533:Atg4b
|
UTSW |
1 |
93,712,632 (GRCm39) |
splice site |
probably benign |
|
|
R2382:Atg4b
|
UTSW |
1 |
93,712,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Atg4b
|
UTSW |
1 |
93,703,426 (GRCm39) |
splice site |
probably benign |
|
|
R3730:Atg4b
|
UTSW |
1 |
93,695,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4303:Atg4b
|
UTSW |
1 |
93,695,984 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4612:Atg4b
|
UTSW |
1 |
93,714,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Atg4b
|
UTSW |
1 |
93,714,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5048:Atg4b
|
UTSW |
1 |
93,703,380 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5735:Atg4b
|
UTSW |
1 |
93,701,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7209:Atg4b
|
UTSW |
1 |
93,702,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Atg4b
|
UTSW |
1 |
93,713,694 (GRCm39) |
nonsense |
probably null |
|
|
R8214:Atg4b
|
UTSW |
1 |
93,712,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Atg4b
|
UTSW |
1 |
93,696,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8949:Atg4b
|
UTSW |
1 |
93,715,479 (GRCm39) |
makesense |
probably null |
|
|
R8987:Atg4b
|
UTSW |
1 |
93,706,081 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9357:Atg4b
|
UTSW |
1 |
93,713,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAATCCTGGCAGATTTGAC -3'
(R):5'- ACTCACTGCAGGCTGTACAG -3'
Sequencing Primer
(F):5'- ATCCTGGCAGATTTGACTTCTAAC -3'
(R):5'- GCTAGTGCTGGAACACCC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation