Incidental Mutation 'R3124:Abhd16b'
ID |
264186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abhd16b
|
Ensembl Gene |
ENSMUSG00000055882 |
Gene Name |
abhydrolase domain containing 16B |
Synonyms |
BC050777 |
MMRRC Submission |
040597-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R3124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181134999-181136773 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 181136319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 407
(R407H)
|
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 |
possibly damaging
Transcript: ENSMUST00000069649
AA Change: R407H
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000066520 Gene: ENSMUSG00000055882 AA Change: R407H
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 |
noncoding transcript
Transcript: ENSMUST00000129390
|
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 |
noncoding transcript
Transcript: ENSMUST00000183956
|
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 |
|
Meta Mutation Damage Score |
0.1384 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
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 |
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 |
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'- ATGCCATCTTGCCAAGTGGAG -3'
(R):5'- AATTGGAAGTCCTCAGGCTCC -3'
Sequencing Primer
(F):5'- TAACCGTGGCAATGAGCTGC -3'
(R):5'- TCCAGTGGACTGCAGTGAG -3'
|
Posted On |
2015-02-05 |