Incidental Mutation 'R4567:Abhd16a'
| ID |
343368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd16a
|
| Ensembl Gene |
ENSMUSG00000007036 |
| Gene Name |
abhydrolase domain containing 16A |
| Synonyms |
NG26, D17H6S82E, Bat5 |
| MMRRC Submission |
041791-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.536)
|
| Stock # |
R4567 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35308239-35321963 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35315499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 182
(L182Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007251]
[ENSMUST00000173846]
|
| AlphaFold |
Q9Z1Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007251
AA Change: L182Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007251
Gene: ENSMUSG00000007036
AA Change: L182Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
179 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_1
|
280 |
415 |
6.3e-10 |
PFAM |
|
Pfam:Abhydrolase_5
|
282 |
465 |
4.7e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172584
|
| SMART Domains |
Protein: ENSMUSP00000133610
Gene: ENSMUSG00000007036
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1imja_
|
33 |
101 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173134
|
| SMART Domains |
Protein: ENSMUSP00000133278
Gene: ENSMUSG00000007036
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173247
|
| SMART Domains |
Protein: ENSMUSP00000134231
Gene: ENSMUSG00000007036
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_6
|
2 |
115 |
8.6e-6 |
PFAM |
|
Pfam:Abhydrolase_5
|
3 |
123 |
3.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173579
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173846
|
| SMART Domains |
Protein: ENSMUSP00000133505
Gene: ENSMUSG00000007036
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2420 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (38/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, decreased body size and weight, and decreased brain lysophosphatidylserines. Macrophages display a reduction in lysophosphatidylserines and LPS-induced cytokine production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,556 (GRCm39) |
|
probably benign |
Het |
| Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
| Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
| Ceacam23 |
T |
C |
7: 17,642,891 (GRCm39) |
S434P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Htr1d |
T |
A |
4: 136,170,836 (GRCm39) |
V355E |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
| Nherf4 |
C |
A |
9: 44,160,323 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
| Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
| Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
| Syt17 |
A |
G |
7: 118,033,495 (GRCm39) |
V171A |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
| Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
| Ushbp1 |
G |
A |
8: 71,838,361 (GRCm39) |
R648W |
probably damaging |
Het |
|
| Other mutations in Abhd16a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Abhd16a
|
APN |
17 |
35,310,013 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01943:Abhd16a
|
APN |
17 |
35,315,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01955:Abhd16a
|
APN |
17 |
35,320,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Abhd16a
|
APN |
17 |
35,320,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
deprived
|
UTSW |
17 |
35,317,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
downtrodden
|
UTSW |
17 |
35,320,827 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0765:Abhd16a
|
UTSW |
17 |
35,320,827 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1931:Abhd16a
|
UTSW |
17 |
35,319,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3788:Abhd16a
|
UTSW |
17 |
35,320,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3789:Abhd16a
|
UTSW |
17 |
35,320,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4587:Abhd16a
|
UTSW |
17 |
35,320,063 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4701:Abhd16a
|
UTSW |
17 |
35,315,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4736:Abhd16a
|
UTSW |
17 |
35,320,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4959:Abhd16a
|
UTSW |
17 |
35,321,318 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4973:Abhd16a
|
UTSW |
17 |
35,321,318 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5338:Abhd16a
|
UTSW |
17 |
35,313,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Abhd16a
|
UTSW |
17 |
35,310,701 (GRCm39) |
intron |
probably benign |
|
|
R6092:Abhd16a
|
UTSW |
17 |
35,317,786 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6533:Abhd16a
|
UTSW |
17 |
35,317,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6881:Abhd16a
|
UTSW |
17 |
35,315,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7603:Abhd16a
|
UTSW |
17 |
35,320,936 (GRCm39) |
splice site |
probably null |
|
|
R7972:Abhd16a
|
UTSW |
17 |
35,320,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8466:Abhd16a
|
UTSW |
17 |
35,313,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8721:Abhd16a
|
UTSW |
17 |
35,310,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Abhd16a
|
UTSW |
17 |
35,321,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abhd16a
|
UTSW |
17 |
35,317,977 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTCCCTGTCCACAGAGG -3'
(R):5'- AGCTACTCTGCATCCAAGTTG -3'
Sequencing Primer
(F):5'- AACTTCGACTTCAGGAGCTG -3'
(R):5'- TCTGCATCCAAGTTGACAGTCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation