Incidental Mutation 'R6644:Abhd14a'
ID |
526006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abhd14a
|
Ensembl Gene |
ENSMUSG00000042210 |
Gene Name |
abhydrolase domain containing 14A |
Synonyms |
Dorz1, 1110013B16Rik |
MMRRC Submission |
044765-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6644 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106317250-106324877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106321472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 10
(Y10C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048527]
[ENSMUST00000048685]
[ENSMUST00000171678]
[ENSMUST00000171925]
[ENSMUST00000185334]
[ENSMUST00000185347]
[ENSMUST00000187001]
[ENSMUST00000187983]
[ENSMUST00000190798]
[ENSMUST00000187106]
[ENSMUST00000215475]
[ENSMUST00000217496]
[ENSMUST00000185527]
[ENSMUST00000186361]
[ENSMUST00000216130]
[ENSMUST00000190167]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048527
|
SMART Domains |
Protein: ENSMUSP00000038755 Gene: ENSMUSG00000042073
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
34 |
189 |
7.9e-18 |
PFAM |
Pfam:Abhydrolase_6
|
35 |
141 |
2.3e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048685
AA Change: Y10C
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047322 Gene: ENSMUSG00000042210 AA Change: Y10C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
Pfam:Hydrolase_4
|
55 |
142 |
3.3e-10 |
PFAM |
Pfam:Abhydrolase_5
|
73 |
227 |
8.1e-21 |
PFAM |
Pfam:Abhydrolase_6
|
74 |
181 |
1e-14 |
PFAM |
Pfam:Abhydrolase_6
|
176 |
238 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171678
AA Change: Y10C
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126101 Gene: ENSMUSG00000042210 AA Change: Y10C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
Pfam:Hydrolase_4
|
55 |
142 |
3.3e-10 |
PFAM |
Pfam:Abhydrolase_5
|
73 |
227 |
8.1e-21 |
PFAM |
Pfam:Abhydrolase_6
|
74 |
181 |
1e-14 |
PFAM |
Pfam:Abhydrolase_6
|
176 |
238 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171925
AA Change: Y10C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126916 Gene: ENSMUSG00000042210 AA Change: Y10C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
Pfam:Abhydrolase_5
|
73 |
245 |
7.9e-17 |
PFAM |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185334
AA Change: Y10C
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140345 Gene: ENSMUSG00000042210 AA Change: Y10C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
Pfam:Hydrolase_4
|
55 |
142 |
3.3e-10 |
PFAM |
Pfam:Abhydrolase_5
|
73 |
227 |
8.1e-21 |
PFAM |
Pfam:Abhydrolase_6
|
74 |
181 |
1e-14 |
PFAM |
Pfam:Abhydrolase_6
|
176 |
238 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185347
|
SMART Domains |
Protein: ENSMUSP00000140279 Gene: ENSMUSG00000042073
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
34 |
183 |
7.6e-15 |
PFAM |
Pfam:Abhydrolase_6
|
35 |
145 |
4.4e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187001
AA Change: Y10C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140042 Gene: ENSMUSG00000042210 AA Change: Y10C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
SCOP:d1imja_
|
51 |
110 |
1e-10 |
SMART |
PDB:1IMJ|A
|
58 |
110 |
6e-13 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187983
AA Change: Y10C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140901 Gene: ENSMUSG00000042210 AA Change: Y10C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:Abhydrolase_5
|
73 |
203 |
5.4e-12 |
PFAM |
Pfam:Abhydrolase_6
|
74 |
197 |
1.4e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190798
AA Change: Y10C
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141096 Gene: ENSMUSG00000042210 AA Change: Y10C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:Hydrolase_4
|
55 |
142 |
1.7e-8 |
PFAM |
Pfam:Abhydrolase_5
|
73 |
157 |
1.2e-8 |
PFAM |
Pfam:Abhydrolase_6
|
74 |
157 |
1.4e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187798
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187106
|
SMART Domains |
Protein: ENSMUSP00000139597 Gene: ENSMUSG00000042073
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
34 |
142 |
2.5e-9 |
PFAM |
Pfam:Abhydrolase_6
|
35 |
141 |
1.9e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215475
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217496
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185527
|
SMART Domains |
Protein: ENSMUSP00000139760 Gene: ENSMUSG00000042073
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
34 |
174 |
3.3e-14 |
PFAM |
Pfam:Abhydrolase_6
|
35 |
144 |
3.8e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186361
|
SMART Domains |
Protein: ENSMUSP00000141151 Gene: ENSMUSG00000042073
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
34 |
189 |
1.5e-17 |
PFAM |
Pfam:Abhydrolase_6
|
35 |
145 |
5.1e-15 |
PFAM |
Pfam:Abhydrolase_6
|
141 |
194 |
1.5e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216130
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190167
|
SMART Domains |
Protein: ENSMUSP00000140655 Gene: ENSMUSG00000042073
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
34 |
149 |
1.4e-9 |
PFAM |
Pfam:Abhydrolase_6
|
35 |
147 |
1.6e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
C |
T |
10: 79,844,598 (GRCm39) |
P1461L |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 68,816,671 (GRCm39) |
V772M |
possibly damaging |
Het |
Apob |
A |
G |
12: 8,059,077 (GRCm39) |
M2487V |
probably damaging |
Het |
B4galnt1 |
T |
C |
10: 127,007,662 (GRCm39) |
|
probably null |
Het |
Cabp7 |
C |
T |
11: 4,690,396 (GRCm39) |
V76I |
probably benign |
Het |
Cbr3 |
A |
G |
16: 93,487,399 (GRCm39) |
Y194C |
probably damaging |
Het |
Cdk18 |
G |
A |
1: 132,049,807 (GRCm39) |
Q58* |
probably null |
Het |
Cryba4 |
T |
C |
5: 112,394,628 (GRCm39) |
D167G |
probably damaging |
Het |
Czib |
T |
G |
4: 107,752,119 (GRCm39) |
I130S |
probably damaging |
Het |
Dner |
T |
C |
1: 84,373,428 (GRCm39) |
N588S |
probably damaging |
Het |
Dnm1l |
T |
C |
16: 16,147,737 (GRCm39) |
I343V |
probably benign |
Het |
Eif1ad16 |
A |
G |
12: 87,985,460 (GRCm39) |
F28L |
probably benign |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
Fbxw17 |
G |
A |
13: 50,577,255 (GRCm39) |
R49Q |
probably damaging |
Het |
Garin2 |
T |
A |
12: 78,762,060 (GRCm39) |
D241E |
probably damaging |
Het |
Gm10332 |
T |
A |
14: 55,057,616 (GRCm39) |
F59I |
probably damaging |
Het |
Gnai3 |
A |
G |
3: 108,030,852 (GRCm39) |
|
probably null |
Het |
Helz |
T |
A |
11: 107,523,087 (GRCm39) |
M75K |
possibly damaging |
Het |
Hnrnph3 |
C |
T |
10: 62,854,672 (GRCm39) |
|
probably benign |
Het |
Ifi211 |
C |
T |
1: 173,733,118 (GRCm39) |
C181Y |
probably benign |
Het |
Immp1l |
A |
G |
2: 105,767,390 (GRCm39) |
K83R |
probably damaging |
Het |
Itga6 |
G |
A |
2: 71,671,468 (GRCm39) |
G740R |
probably damaging |
Het |
Klhl1 |
T |
C |
14: 96,755,354 (GRCm39) |
T134A |
probably benign |
Het |
Klhl7 |
A |
G |
5: 24,354,244 (GRCm39) |
D353G |
probably damaging |
Het |
Map3k1 |
A |
G |
13: 111,888,983 (GRCm39) |
S1325P |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,451,297 (GRCm39) |
|
probably null |
Het |
Meioc |
G |
A |
11: 102,559,286 (GRCm39) |
|
probably null |
Het |
Mfap5 |
T |
C |
6: 122,497,555 (GRCm39) |
F26L |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,054,249 (GRCm39) |
T386A |
probably damaging |
Het |
Npc1l1 |
A |
T |
11: 6,164,013 (GRCm39) |
L1266Q |
probably damaging |
Het |
Npc1l1 |
G |
T |
11: 6,164,014 (GRCm39) |
L1266M |
probably damaging |
Het |
Or4c116 |
A |
G |
2: 88,942,325 (GRCm39) |
M177T |
probably benign |
Het |
Or51aa2 |
C |
A |
7: 103,188,265 (GRCm39) |
V59F |
possibly damaging |
Het |
Pbld1 |
T |
A |
10: 62,910,842 (GRCm39) |
S233T |
probably damaging |
Het |
Phf12 |
A |
G |
11: 77,916,918 (GRCm39) |
*789W |
probably null |
Het |
Sf3b2 |
A |
T |
19: 5,329,992 (GRCm39) |
|
probably null |
Het |
Slc23a3 |
A |
G |
1: 75,105,191 (GRCm39) |
I459T |
probably damaging |
Het |
Spata31e4 |
A |
G |
13: 50,856,071 (GRCm39) |
T570A |
possibly damaging |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Stard9 |
A |
C |
2: 120,526,253 (GRCm39) |
M837L |
probably benign |
Het |
Stx5a |
A |
T |
19: 8,732,612 (GRCm39) |
|
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,137,385 (GRCm39) |
V719A |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,193,902 (GRCm39) |
I642K |
possibly damaging |
Het |
Trim34a |
T |
C |
7: 103,910,244 (GRCm39) |
Y349H |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,858,671 (GRCm39) |
Y834C |
possibly damaging |
Het |
Ube2d1 |
A |
G |
10: 71,092,530 (GRCm39) |
S105P |
possibly damaging |
Het |
Vps13a |
A |
G |
19: 16,722,283 (GRCm39) |
V343A |
possibly damaging |
Het |
Zbtb37 |
G |
A |
1: 160,859,643 (GRCm39) |
Q221* |
probably null |
Het |
Zfp119b |
T |
C |
17: 56,246,148 (GRCm39) |
N346S |
probably benign |
Het |
Zfp708 |
G |
T |
13: 67,218,785 (GRCm39) |
T358K |
possibly damaging |
Het |
|
Other mutations in Abhd14a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03051:Abhd14a
|
APN |
9 |
106,321,128 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL03204:Abhd14a
|
APN |
9 |
106,317,834 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:Abhd14a
|
UTSW |
9 |
106,318,082 (GRCm39) |
unclassified |
probably benign |
|
R1937:Abhd14a
|
UTSW |
9 |
106,317,446 (GRCm39) |
unclassified |
probably benign |
|
R2129:Abhd14a
|
UTSW |
9 |
106,318,064 (GRCm39) |
missense |
probably null |
|
R5521:Abhd14a
|
UTSW |
9 |
106,321,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5850:Abhd14a
|
UTSW |
9 |
106,317,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5971:Abhd14a
|
UTSW |
9 |
106,321,065 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5975:Abhd14a
|
UTSW |
9 |
106,321,150 (GRCm39) |
splice site |
probably null |
|
R6138:Abhd14a
|
UTSW |
9 |
106,321,065 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8171:Abhd14a
|
UTSW |
9 |
106,317,960 (GRCm39) |
missense |
probably benign |
0.10 |
U15987:Abhd14a
|
UTSW |
9 |
106,321,065 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTAAACCTTCACCTGCGTG -3'
(R):5'- AGCTAACACAGTGATAATGATAGCC -3'
Sequencing Primer
(F):5'- CGTGCCTGCTGGATTGGC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2018-06-22 |