Incidental Mutation 'PIT4243001:Atg14'
| ID |
554469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg14
|
| Ensembl Gene |
ENSMUSG00000037526 |
| Gene Name |
autophagy related 14 |
| Synonyms |
Barkor, D14Ertd436e, D14Ertd114e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
PIT4243001 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47778350-47805891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47792031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 132
(E132G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042988]
[ENSMUST00000226299]
|
| AlphaFold |
Q8CDJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042988
AA Change: E132G
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039047
Gene: ENSMUSG00000037526
AA Change: E132G
| 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 |
possibly damaging
Transcript: ENSMUST00000226299
AA Change: E132G
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 85.2%
- 20x: 74.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,999 (GRCm39) |
E252V |
possibly damaging |
Het |
| Abhd13 |
T |
C |
8: 10,037,967 (GRCm39) |
F188S |
possibly damaging |
Het |
| Abtb1 |
A |
G |
6: 88,815,708 (GRCm39) |
V225A |
probably benign |
Het |
| Accs |
A |
G |
2: 93,671,679 (GRCm39) |
M237T |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,236,271 (GRCm39) |
I380T |
probably damaging |
Het |
| Add3 |
T |
C |
19: 53,225,121 (GRCm39) |
S414P |
probably benign |
Het |
| Ak3 |
C |
T |
19: 29,015,271 (GRCm39) |
|
probably null |
Het |
| Bcl2l11 |
A |
G |
2: 127,989,026 (GRCm39) |
E135G |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 95,803,871 (GRCm39) |
Q2100* |
probably null |
Het |
| Card11 |
A |
C |
5: 140,894,359 (GRCm39) |
V90G |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,709,507 (GRCm39) |
V1451A |
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,113,723 (GRCm39) |
I291T |
probably damaging |
Het |
| Clk1 |
C |
T |
1: 58,458,836 (GRCm39) |
D179N |
probably damaging |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,302 (GRCm39) |
L454P |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,883,446 (GRCm39) |
S663P |
unknown |
Het |
| Erich6 |
G |
A |
3: 58,537,300 (GRCm39) |
T238I |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,489 (GRCm39) |
H132Q |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,707,858 (GRCm39) |
C704R |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,575,141 (GRCm39) |
R531W |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,832 (GRCm39) |
E71G |
probably benign |
Het |
| Lipe |
A |
C |
7: 25,094,971 (GRCm39) |
S22A |
probably benign |
Het |
| Myl10 |
A |
G |
5: 136,723,147 (GRCm39) |
D32G |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,705 (GRCm39) |
H179R |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,379 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,394 (GRCm39) |
F305S |
probably benign |
Het |
| Pdpn |
T |
A |
4: 142,997,108 (GRCm39) |
T129S |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,582 (GRCm39) |
V135I |
possibly damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,807,134 (GRCm39) |
N199K |
probably damaging |
Het |
| Skil |
T |
C |
3: 31,167,714 (GRCm39) |
S449P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,892,540 (GRCm39) |
L107P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,087 (GRCm39) |
M430T |
probably damaging |
Het |
| Tnfaip3 |
G |
A |
10: 18,887,322 (GRCm39) |
L68F |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,733,781 (GRCm39) |
R878H |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,467,480 (GRCm39) |
S476P |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,802,379 (GRCm39) |
M499L |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,638,631 (GRCm39) |
T571A |
probably damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,096 (GRCm39) |
G948V |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,841,975 (GRCm39) |
I852V |
probably benign |
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 |
|
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 |
|
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'- ACATAAGGGCACGGTCTCTC -3'
(R):5'- TATGGAACCAGAAAATACGTTCCCC -3'
Sequencing Primer
(F):5'- GGCACGGTCTCTCCCTCC -3'
(R):5'- TACTGTAGGTCAACACAGTCGTGAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation