Incidental Mutation 'R5235:Atg14'
| ID |
398322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg14
|
| Ensembl Gene |
ENSMUSG00000037526 |
| Gene Name |
autophagy related 14 |
| Synonyms |
Barkor, D14Ertd436e, D14Ertd114e |
| MMRRC Submission |
042807-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R5235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47778350-47805891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47805656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 70
(R70C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042988]
[ENSMUST00000226299]
|
| AlphaFold |
Q8CDJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042988
AA Change: R70C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039047
Gene: ENSMUSG00000037526
AA Change: R70C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atg14
|
43 |
393 |
1.1e-79 |
PFAM |
|
low complexity region
|
447 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226299
AA Change: R70C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228784
AA Change: R69C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228790
|
| Meta Mutation Damage Score |
0.2264 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele following delivery of a Tat-cre exhibit increased mucin accumulation in colonic epithelial spheroids. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,256 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
| Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
| Atg3 |
A |
G |
16: 44,979,520 (GRCm39) |
T20A |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,239,955 (GRCm39) |
|
probably null |
Het |
| Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
| Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
| Ido2 |
A |
T |
8: 25,037,202 (GRCm39) |
I168N |
probably damaging |
Het |
| Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
| Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
| Mast1 |
A |
T |
8: 85,640,068 (GRCm39) |
L1113Q |
probably damaging |
Het |
| Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
| Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
| Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
| Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
| Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
| Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
| Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,126,901 (GRCm39) |
|
probably null |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
| Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
probably null |
Het |
|
| Other mutations in Atg14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02088:Atg14
|
APN |
14 |
47,780,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02513:Atg14
|
APN |
14 |
47,783,081 (GRCm39) |
splice site |
probably benign |
|
|
IGL02513:Atg14
|
APN |
14 |
47,786,451 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4243001:Atg14
|
UTSW |
14 |
47,792,031 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1463:Atg14
|
UTSW |
14 |
47,786,451 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1479:Atg14
|
UTSW |
14 |
47,784,696 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1499:Atg14
|
UTSW |
14 |
47,798,102 (GRCm39) |
missense |
probably benign |
|
|
R1781:Atg14
|
UTSW |
14 |
47,786,607 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1974:Atg14
|
UTSW |
14 |
47,783,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Atg14
|
UTSW |
14 |
47,780,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Atg14
|
UTSW |
14 |
47,780,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Atg14
|
UTSW |
14 |
47,780,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Atg14
|
UTSW |
14 |
47,788,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Atg14
|
UTSW |
14 |
47,788,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4232:Atg14
|
UTSW |
14 |
47,788,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4233:Atg14
|
UTSW |
14 |
47,788,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4234:Atg14
|
UTSW |
14 |
47,788,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4236:Atg14
|
UTSW |
14 |
47,788,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4360:Atg14
|
UTSW |
14 |
47,805,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4711:Atg14
|
UTSW |
14 |
47,783,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Atg14
|
UTSW |
14 |
47,788,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5025:Atg14
|
UTSW |
14 |
47,783,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Atg14
|
UTSW |
14 |
47,805,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5297:Atg14
|
UTSW |
14 |
47,805,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5301:Atg14
|
UTSW |
14 |
47,805,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5338:Atg14
|
UTSW |
14 |
47,805,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5450:Atg14
|
UTSW |
14 |
47,788,921 (GRCm39) |
missense |
probably benign |
|
|
R5475:Atg14
|
UTSW |
14 |
47,805,793 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5799:Atg14
|
UTSW |
14 |
47,784,752 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6489:Atg14
|
UTSW |
14 |
47,786,480 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7589:Atg14
|
UTSW |
14 |
47,780,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Atg14
|
UTSW |
14 |
47,806,050 (GRCm39) |
unclassified |
probably benign |
|
|
R9478:Atg14
|
UTSW |
14 |
47,783,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Atg14
|
UTSW |
14 |
47,788,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Atg14
|
UTSW |
14 |
47,805,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACCTACGTTCACCTAGC -3'
(R):5'- CTCAGATCATCATGGCGTCTCC -3'
Sequencing Primer
(F):5'- TACGTTCACCTAGCACCCAC -3'
(R):5'- ATCATGGCGTCTCCCAGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation