Incidental Mutation 'R9699:Abhd16b'
| ID |
729464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd16b
|
| Ensembl Gene |
ENSMUSG00000055882 |
| Gene Name |
abhydrolase domain containing 16B |
| Synonyms |
BC050777 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R9699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181134999-181136773 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181136518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 473
(R473S)
|
| 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 benign
Transcript: ENSMUST00000069649
AA Change: R473S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
AA Change: R473S
| 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: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
G |
T |
1: 57,416,927 (GRCm39) |
R33L |
probably benign |
Het |
| Adcyap1r1 |
A |
G |
6: 55,474,140 (GRCm39) |
D492G |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,229,309 (GRCm39) |
N617I |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,588,769 (GRCm39) |
E281G |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,738,614 (GRCm39) |
|
probably null |
Het |
| Dock8 |
G |
A |
19: 25,133,388 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,654,315 (GRCm39) |
V1449A |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,282,703 (GRCm39) |
D732G |
probably damaging |
Het |
| Fam174c |
T |
A |
10: 80,010,161 (GRCm39) |
|
probably null |
Het |
| Fhip2b |
A |
T |
14: 70,825,179 (GRCm39) |
S386T |
possibly damaging |
Het |
| Gimap6 |
T |
C |
6: 48,684,951 (GRCm39) |
E45G |
probably benign |
Het |
| Glt1d1 |
C |
A |
5: 127,771,364 (GRCm39) |
T285K |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,007,636 (GRCm39) |
Y86* |
probably null |
Het |
| Grip2 |
A |
G |
6: 91,742,318 (GRCm39) |
S912P |
probably benign |
Het |
| Gucy2d |
T |
A |
7: 98,108,290 (GRCm39) |
I741N |
probably damaging |
Het |
| Hrh2 |
A |
T |
13: 54,368,299 (GRCm39) |
N92Y |
probably damaging |
Het |
| Klrc2 |
T |
A |
6: 129,637,452 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Patl2 |
T |
C |
2: 121,955,591 (GRCm39) |
D285G |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,035,735 (GRCm39) |
V685A |
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,380,857 (GRCm39) |
H511R |
probably benign |
Het |
| Scarb1 |
G |
T |
5: 125,374,296 (GRCm39) |
A279E |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,114 (GRCm39) |
E110G |
probably damaging |
Het |
| Sftpc |
A |
T |
14: 70,760,143 (GRCm39) |
I38N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc5a4b |
C |
A |
10: 75,946,674 (GRCm39) |
V33F |
probably damaging |
Het |
| Smad7 |
A |
G |
18: 75,527,161 (GRCm39) |
S336G |
probably damaging |
Het |
| Tnpo3 |
C |
T |
6: 29,565,768 (GRCm39) |
V529I |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,517,727 (GRCm39) |
V22A |
probably benign |
Het |
| Tssk1 |
A |
G |
16: 17,712,545 (GRCm39) |
E110G |
probably damaging |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,675 (GRCm39) |
V119D |
probably damaging |
Het |
| Vmn1r191 |
A |
G |
13: 22,363,355 (GRCm39) |
F133S |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
possibly damaging |
Het |
| Zw10 |
G |
T |
9: 48,966,942 (GRCm39) |
|
probably benign |
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 |
|
R8214:Abhd16b
|
UTSW |
2 |
181,135,983 (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 |
|
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'- AGCAACACTTCGTTCTTATCGTGAG -3'
(R):5'- GGCACAGACATTCAGATGTTTGC -3'
Sequencing Primer
(F):5'- AGCTGGACGATGCCGAG -3'
(R):5'- ACATTCAGATGTTTGCAAGGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation