Incidental Mutation 'BB015:Adprhl1'
ID |
642855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprhl1
|
Ensembl Gene |
ENSMUSG00000031448 |
Gene Name |
ADP-ribosylhydrolase like 1 |
Synonyms |
D330008N11Rik, Arh2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
BB015
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 13298682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 83
(V83I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033825]
[ENSMUST00000168498]
[ENSMUST00000171619]
[ENSMUST00000204916]
|
AlphaFold |
Q8BGK2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033825
AA Change: V83I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033825 Gene: ENSMUSG00000031448 AA Change: V83I
Domain | Start | End | E-Value | Type |
Pfam:ADP_ribosyl_GH
|
6 |
327 |
1.2e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168498
|
SMART Domains |
Protein: ENSMUSP00000131920 Gene: ENSMUSG00000031448
Domain | Start | End | E-Value | Type |
Pfam:ADP_ribosyl_GH
|
69 |
196 |
9e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171619
AA Change: V2I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132014 Gene: ENSMUSG00000031448 AA Change: V2I
Domain | Start | End | E-Value | Type |
Pfam:ADP_ribosyl_GH
|
1 |
135 |
4.9e-18 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204916
AA Change: V83I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000145145 Gene: ENSMUSG00000031448 AA Change: V83I
Domain | Start | End | E-Value | Type |
Pfam:ADP_ribosyl_GH
|
6 |
327 |
4.2e-49 |
PFAM |
low complexity region
|
509 |
527 |
N/A |
INTRINSIC |
low complexity region
|
955 |
969 |
N/A |
INTRINSIC |
internal_repeat_1
|
1047 |
1150 |
1.82e-5 |
PROSPERO |
internal_repeat_1
|
1157 |
1274 |
1.82e-5 |
PROSPERO |
low complexity region
|
1275 |
1290 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
Cntrob |
A |
G |
11: 69,191,121 (GRCm39) |
L831P |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
Gm5773 |
A |
G |
3: 93,680,997 (GRCm39) |
E223G |
probably damaging |
Het |
Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
Or52ae9 |
T |
A |
7: 103,390,397 (GRCm39) |
I17F |
probably damaging |
Het |
Rassf3 |
A |
G |
10: 121,252,984 (GRCm39) |
|
probably null |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,159,898 (GRCm39) |
Y826C |
possibly damaging |
Het |
Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
Sec13 |
A |
G |
6: 113,706,601 (GRCm39) |
S271P |
probably damaging |
Het |
Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
probably damaging |
Het |
|
Other mutations in Adprhl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03268:Adprhl1
|
APN |
8 |
13,296,170 (GRCm39) |
splice site |
probably benign |
|
BB003:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB004:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB005:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB013:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB014:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Adprhl1
|
UTSW |
8 |
13,292,391 (GRCm39) |
splice site |
probably benign |
|
R0636:Adprhl1
|
UTSW |
8 |
13,298,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Adprhl1
|
UTSW |
8 |
13,298,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Adprhl1
|
UTSW |
8 |
13,292,559 (GRCm39) |
missense |
probably benign |
0.00 |
R4411:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4412:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4413:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4615:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
R4618:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
R5016:Adprhl1
|
UTSW |
8 |
13,274,889 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5058:Adprhl1
|
UTSW |
8 |
13,292,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5060:Adprhl1
|
UTSW |
8 |
13,298,621 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5209:Adprhl1
|
UTSW |
8 |
13,292,563 (GRCm39) |
nonsense |
probably null |
|
R6103:Adprhl1
|
UTSW |
8 |
13,272,055 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6158:Adprhl1
|
UTSW |
8 |
13,274,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6221:Adprhl1
|
UTSW |
8 |
13,275,634 (GRCm39) |
missense |
probably benign |
0.01 |
R6971:Adprhl1
|
UTSW |
8 |
13,273,476 (GRCm39) |
missense |
probably benign |
|
R7087:Adprhl1
|
UTSW |
8 |
13,271,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R7362:Adprhl1
|
UTSW |
8 |
13,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R7404:Adprhl1
|
UTSW |
8 |
13,275,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R7422:Adprhl1
|
UTSW |
8 |
13,272,873 (GRCm39) |
missense |
probably benign |
0.28 |
R7439:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
R7441:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
R7772:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7774:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7776:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7876:Adprhl1
|
UTSW |
8 |
13,273,509 (GRCm39) |
missense |
probably benign |
0.00 |
R7877:Adprhl1
|
UTSW |
8 |
13,275,316 (GRCm39) |
nonsense |
probably null |
|
R7926:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7928:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7929:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7944:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R7945:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R7946:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7947:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7949:Adprhl1
|
UTSW |
8 |
13,274,225 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8155:Adprhl1
|
UTSW |
8 |
13,271,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R8182:Adprhl1
|
UTSW |
8 |
13,272,774 (GRCm39) |
missense |
probably benign |
0.07 |
R8753:Adprhl1
|
UTSW |
8 |
13,272,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8799:Adprhl1
|
UTSW |
8 |
13,272,474 (GRCm39) |
missense |
probably benign |
0.00 |
R8893:Adprhl1
|
UTSW |
8 |
13,274,511 (GRCm39) |
missense |
probably benign |
0.11 |
R9022:Adprhl1
|
UTSW |
8 |
13,274,352 (GRCm39) |
missense |
probably benign |
0.00 |
R9161:Adprhl1
|
UTSW |
8 |
13,272,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R9227:Adprhl1
|
UTSW |
8 |
13,271,974 (GRCm39) |
missense |
probably benign |
0.27 |
R9228:Adprhl1
|
UTSW |
8 |
13,275,279 (GRCm39) |
missense |
probably benign |
|
R9283:Adprhl1
|
UTSW |
8 |
13,273,540 (GRCm39) |
missense |
probably benign |
|
R9426:Adprhl1
|
UTSW |
8 |
13,274,034 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9648:Adprhl1
|
UTSW |
8 |
13,273,245 (GRCm39) |
missense |
probably benign |
0.40 |
Z1176:Adprhl1
|
UTSW |
8 |
13,275,613 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Adprhl1
|
UTSW |
8 |
13,295,476 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCTAACTGCAGCTCTGTG -3'
(R):5'- TCCAAGTAGTTGAGACTGTTAGAAG -3'
Sequencing Primer
(F):5'- TAACTGCAGCTCTGTGAACAG -3'
(R):5'- TGGTGGATGTTCCCTAGACCC -3'
|
Posted On |
2020-08-01 |