Incidental Mutation 'BB013:Adprhl1'
ID |
642757 |
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 # |
BB013
|
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: 98.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
Dcaf4 |
C |
A |
12: 83,580,703 (GRCm39) |
Y212* |
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,236,624 (GRCm39) |
P514L |
probably damaging |
Het |
Lmntd2 |
G |
T |
7: 140,790,258 (GRCm39) |
P610Q |
probably damaging |
Het |
Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
Pacs2 |
C |
T |
12: 113,024,372 (GRCm39) |
L418F |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
Qsox1 |
C |
T |
1: 155,688,533 (GRCm39) |
G5S |
unknown |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Sass6 |
T |
A |
3: 116,422,419 (GRCm39) |
S641T |
possibly damaging |
Het |
Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
Tagap |
T |
C |
17: 8,145,770 (GRCm39) |
|
probably null |
Het |
Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,702,988 (GRCm39) |
D122G |
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 |
BB014:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB015: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'- ATACCACACCAAGTGTCGGG -3'
(R):5'- TGGATGTTCCCTAGACCCTC -3'
Sequencing Primer
(F):5'- TTCACACGCACAGGGTC -3'
(R):5'- ATGTTCCCTAGACCCTCGGGAC -3'
|
Posted On |
2020-08-01 |