Incidental Mutation 'R8214:Abhd16b'
| ID |
636301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd16b
|
| Ensembl Gene |
ENSMUSG00000055882 |
| Gene Name |
abhydrolase domain containing 16B |
| Synonyms |
BC050777 |
| MMRRC Submission |
067656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R8214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181134999-181136773 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 181135983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 295
(T295I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000844]
[ENSMUST00000069649]
[ENSMUST00000069712]
[ENSMUST00000108799]
[ENSMUST00000108800]
[ENSMUST00000149163]
[ENSMUST00000184588]
[ENSMUST00000184849]
|
| AlphaFold |
Q80YU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000844
|
| SMART Domains |
Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
199 |
6.2e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069649
AA Change: T295I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
AA Change: T295I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_1
|
174 |
339 |
2.9e-11 |
PFAM |
|
Pfam:Abhydrolase_5
|
174 |
341 |
2.1e-13 |
PFAM |
|
Pfam:Hydrolase_4
|
180 |
308 |
5.1e-9 |
PFAM |
|
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069712
|
| SMART Domains |
Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
193 |
5.8e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108799
|
| SMART Domains |
Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
18 |
121 |
1.9e-38 |
PFAM |
|
Pfam:TPD52
|
115 |
220 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108800
|
| SMART Domains |
Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
179 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149163
|
| SMART Domains |
Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
213 |
5.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184849
|
| SMART Domains |
Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
9 |
170 |
2.4e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,177,447 (GRCm39) |
R52Q |
|
Het |
| Abcc3 |
C |
T |
11: 94,254,344 (GRCm39) |
R718H |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,738,253 (GRCm39) |
M1166V |
probably benign |
Het |
| Amph |
A |
G |
13: 19,288,468 (GRCm39) |
N319S |
possibly damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,313,944 (GRCm39) |
D425G |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,609 (GRCm39) |
S316P |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,431,921 (GRCm39) |
S649P |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,444,196 (GRCm39) |
S411P |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,228,215 (GRCm39) |
E987G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,021,711 (GRCm39) |
D3537G |
probably damaging |
Het |
| Dnpep |
A |
T |
1: 75,292,642 (GRCm39) |
W126R |
probably damaging |
Het |
| Efcab2 |
T |
C |
1: 178,265,015 (GRCm39) |
V27A |
probably benign |
Het |
| Kctd21 |
T |
C |
7: 96,996,548 (GRCm39) |
L7P |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,044,854 (GRCm39) |
T216I |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,257 (GRCm39) |
M87K |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,177,691 (GRCm39) |
V1646A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,592 (GRCm39) |
T359A |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,356,685 (GRCm39) |
K1092E |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,729 (GRCm39) |
E162G |
probably benign |
Het |
| Or10ak11 |
A |
T |
4: 118,687,288 (GRCm39) |
F117L |
probably benign |
Het |
| Or52e2 |
A |
C |
7: 102,804,613 (GRCm39) |
S114A |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,174 (GRCm39) |
S109T |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,454,636 (GRCm39) |
V339L |
probably benign |
Het |
| Plec |
A |
G |
15: 76,076,484 (GRCm39) |
W145R |
unknown |
Het |
| Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,662,139 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
A |
G |
18: 58,070,791 (GRCm39) |
I1048V |
probably benign |
Het |
| Sult2a4 |
A |
G |
7: 13,723,401 (GRCm39) |
I39T |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,614 (GRCm39) |
V2247A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,645,247 (GRCm39) |
R2385C |
probably damaging |
Het |
| Tomm70a |
G |
T |
16: 56,942,330 (GRCm39) |
A36S |
unknown |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,347 (GRCm39) |
I636V |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,824,714 (GRCm39) |
I629M |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,424 (GRCm39) |
E66G |
noncoding transcript |
Het |
| Vmn1r189 |
C |
T |
13: 22,286,301 (GRCm39) |
V179I |
probably benign |
Het |
| Vmn2r105 |
T |
G |
17: 20,448,775 (GRCm39) |
E134A |
probably benign |
Het |
| Wdr70 |
G |
A |
15: 7,916,851 (GRCm39) |
A522V |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,142,995 (GRCm39) |
C234S |
probably damaging |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Abhd16b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01651:Abhd16b
|
APN |
2 |
181,136,531 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02237:Abhd16b
|
APN |
2 |
181,135,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02457:Abhd16b
|
APN |
2 |
181,136,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4486001:Abhd16b
|
UTSW |
2 |
181,135,752 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1760:Abhd16b
|
UTSW |
2 |
181,135,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Abhd16b
|
UTSW |
2 |
181,135,209 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3124:Abhd16b
|
UTSW |
2 |
181,136,319 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4779:Abhd16b
|
UTSW |
2 |
181,135,253 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5781:Abhd16b
|
UTSW |
2 |
181,135,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Abhd16b
|
UTSW |
2 |
181,135,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Abhd16b
|
UTSW |
2 |
181,135,461 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7305:Abhd16b
|
UTSW |
2 |
181,135,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7850:Abhd16b
|
UTSW |
2 |
181,135,518 (GRCm39) |
missense |
not run |
|
|
R8115:Abhd16b
|
UTSW |
2 |
181,135,527 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8132:Abhd16b
|
UTSW |
2 |
181,135,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Abhd16b
|
UTSW |
2 |
181,136,208 (GRCm39) |
missense |
probably benign |
|
|
R8975:Abhd16b
|
UTSW |
2 |
181,135,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9381:Abhd16b
|
UTSW |
2 |
181,135,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Abhd16b
|
UTSW |
2 |
181,135,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9699:Abhd16b
|
UTSW |
2 |
181,136,518 (GRCm39) |
missense |
probably benign |
|
|
X0052:Abhd16b
|
UTSW |
2 |
181,136,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Abhd16b
|
UTSW |
2 |
181,135,506 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAATATGCGCTGCACCG -3'
(R):5'- TATCTGTGCTGTAGAAGGCG -3'
Sequencing Primer
(F):5'- ATATGCGCTGCACCGTTTGAAC -3'
(R):5'- GCGCAACAGCAGCTCATTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation