Incidental Mutation 'R5025:Atg14'
ID |
391307 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg14
|
Ensembl Gene |
ENSMUSG00000037526 |
Gene Name |
autophagy related 14 |
Synonyms |
Barkor, D14Ertd436e, D14Ertd114e |
MMRRC Submission |
042616-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.864)
|
Stock # |
R5025 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
47778350-47805891 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 47783273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 354
(N354T)
|
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: N354T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039047 Gene: ENSMUSG00000037526 AA Change: N354T
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: N354T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228568
|
Meta Mutation Damage Score |
0.9228 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (40/40) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly damaging |
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 |
R5235:Atg14
|
UTSW |
14 |
47,805,656 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CCCAGAGAAAGCAGGCTTAG -3'
(R):5'- CTCAGGCAGTCTACTAAGGAGG -3'
Sequencing Primer
(F):5'- CTTAGGGGAAGCCACACAGC -3'
(R):5'- TCTACTAAGGAGGAAGAATGTGCTG -3'
|
Posted On |
2016-06-06 |