Incidental Mutation 'R2277:Ankrd13d'
ID |
242878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd13d
|
Ensembl Gene |
ENSMUSG00000005986 |
Gene Name |
ankyrin repeat domain 13 family, member D |
Synonyms |
0710001P18Rik |
MMRRC Submission |
040276-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2277 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4320208-4333165 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4331012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 165
(H165R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056888]
[ENSMUST00000163858]
[ENSMUST00000167215]
[ENSMUST00000169192]
|
AlphaFold |
Q6PD24 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056888
AA Change: H165R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000053783 Gene: ENSMUSG00000005986 AA Change: H165R
Domain | Start | End | E-Value | Type |
ANK
|
39 |
68 |
2.77e-3 |
SMART |
ANK
|
72 |
101 |
9.75e1 |
SMART |
Pfam:GPCR_chapero_1
|
155 |
469 |
1.2e-111 |
PFAM |
UIM
|
482 |
501 |
3.2e-2 |
SMART |
UIM
|
528 |
547 |
1.92e2 |
SMART |
UIM
|
564 |
583 |
8.18e0 |
SMART |
UIM
|
589 |
605 |
6e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163858
|
SMART Domains |
Protein: ENSMUSP00000128932 Gene: ENSMUSG00000005986
Domain | Start | End | E-Value | Type |
ANK
|
39 |
68 |
2.77e-3 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000167215
AA Change: T150A
|
SMART Domains |
Protein: ENSMUSP00000128037 Gene: ENSMUSG00000005986 AA Change: T150A
Domain | Start | End | E-Value | Type |
ANK
|
39 |
68 |
2.77e-3 |
SMART |
ANK
|
72 |
101 |
9.75e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169192
AA Change: H92R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000130995 Gene: ENSMUSG00000005986 AA Change: H92R
Domain | Start | End | E-Value | Type |
Blast:ANK
|
1 |
28 |
5e-11 |
BLAST |
Pfam:GPCR_chapero_1
|
82 |
121 |
6.9e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169653
|
Predicted Effect |
unknown
Transcript: ENSMUST00000170283
AA Change: H9R
|
SMART Domains |
Protein: ENSMUSP00000126349 Gene: ENSMUSG00000005986 AA Change: H9R
Domain | Start | End | E-Value | Type |
Pfam:GPCR_chapero_1
|
1 |
98 |
9.3e-25 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
Atxn1 |
T |
C |
13: 45,710,544 (GRCm39) |
N796S |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
Cdh4 |
C |
A |
2: 179,439,317 (GRCm39) |
H155N |
possibly damaging |
Het |
Cela3a |
T |
C |
4: 137,133,187 (GRCm39) |
I62V |
possibly damaging |
Het |
Cr2 |
T |
C |
1: 194,839,676 (GRCm39) |
R960G |
possibly damaging |
Het |
Ddx42 |
T |
A |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,987,387 (GRCm39) |
K1308E |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Gh |
T |
C |
11: 106,191,613 (GRCm39) |
E143G |
probably damaging |
Het |
Hcn3 |
C |
A |
3: 89,055,168 (GRCm39) |
R693L |
probably benign |
Het |
Hdlbp |
G |
A |
1: 93,335,900 (GRCm39) |
R1199* |
probably null |
Het |
Hook2 |
C |
T |
8: 85,729,560 (GRCm39) |
Q667* |
probably null |
Het |
Ibtk |
T |
C |
9: 85,585,204 (GRCm39) |
I1147V |
probably benign |
Het |
Itpk1 |
T |
C |
12: 102,536,519 (GRCm39) |
T376A |
probably benign |
Het |
Lars1 |
C |
T |
18: 42,368,567 (GRCm39) |
V425I |
probably benign |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
Mamld1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA |
X: 70,162,421 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,955,127 (GRCm39) |
E166G |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,579 (GRCm39) |
L52P |
probably damaging |
Het |
Nlrp2 |
T |
C |
7: 5,331,128 (GRCm39) |
T423A |
probably benign |
Het |
Nphs1 |
T |
A |
7: 30,166,989 (GRCm39) |
L732* |
probably null |
Het |
Pcdhb10 |
T |
C |
18: 37,545,677 (GRCm39) |
I251T |
possibly damaging |
Het |
Plcg1 |
T |
A |
2: 160,597,725 (GRCm39) |
M789K |
possibly damaging |
Het |
Pom121l2 |
T |
C |
13: 22,168,417 (GRCm39) |
I896T |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,612,321 (GRCm39) |
D24G |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,135,513 (GRCm39) |
|
probably null |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
Runx1t1 |
T |
C |
4: 13,771,501 (GRCm39) |
V15A |
probably benign |
Het |
Serpina10 |
T |
A |
12: 103,593,002 (GRCm39) |
I291F |
probably benign |
Het |
Slc23a2 |
A |
G |
2: 131,933,179 (GRCm39) |
I93T |
possibly damaging |
Het |
Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
Sulf1 |
A |
C |
1: 12,867,018 (GRCm39) |
R67S |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tmem45a |
A |
T |
16: 56,643,882 (GRCm39) |
L89Q |
probably damaging |
Het |
Top3a |
A |
C |
11: 60,636,700 (GRCm39) |
V655G |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
|
Other mutations in Ankrd13d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01485:Ankrd13d
|
APN |
19 |
4,323,592 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02480:Ankrd13d
|
APN |
19 |
4,321,491 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0639:Ankrd13d
|
UTSW |
19 |
4,323,047 (GRCm39) |
critical splice donor site |
probably null |
|
R0673:Ankrd13d
|
UTSW |
19 |
4,323,047 (GRCm39) |
critical splice donor site |
probably null |
|
R1423:Ankrd13d
|
UTSW |
19 |
4,331,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1592:Ankrd13d
|
UTSW |
19 |
4,332,919 (GRCm39) |
missense |
probably benign |
0.21 |
R1682:Ankrd13d
|
UTSW |
19 |
4,332,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R1843:Ankrd13d
|
UTSW |
19 |
4,321,623 (GRCm39) |
missense |
probably damaging |
0.99 |
R2376:Ankrd13d
|
UTSW |
19 |
4,322,623 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2483:Ankrd13d
|
UTSW |
19 |
4,331,968 (GRCm39) |
missense |
probably damaging |
0.96 |
R3623:Ankrd13d
|
UTSW |
19 |
4,331,968 (GRCm39) |
missense |
probably damaging |
0.96 |
R4066:Ankrd13d
|
UTSW |
19 |
4,320,388 (GRCm39) |
missense |
probably benign |
0.00 |
R5871:Ankrd13d
|
UTSW |
19 |
4,332,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6011:Ankrd13d
|
UTSW |
19 |
4,331,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R6057:Ankrd13d
|
UTSW |
19 |
4,332,256 (GRCm39) |
missense |
probably damaging |
0.97 |
R6167:Ankrd13d
|
UTSW |
19 |
4,323,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Ankrd13d
|
UTSW |
19 |
4,331,013 (GRCm39) |
missense |
probably damaging |
0.98 |
R7921:Ankrd13d
|
UTSW |
19 |
4,321,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R8189:Ankrd13d
|
UTSW |
19 |
4,320,880 (GRCm39) |
missense |
probably benign |
0.08 |
R8205:Ankrd13d
|
UTSW |
19 |
4,331,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R9376:Ankrd13d
|
UTSW |
19 |
4,332,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R9476:Ankrd13d
|
UTSW |
19 |
4,320,289 (GRCm39) |
missense |
unknown |
|
R9591:Ankrd13d
|
UTSW |
19 |
4,320,250 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAGGAGGCCATATTAGTGC -3'
(R):5'- AGTTGACCGCAGAGACTTG -3'
Sequencing Primer
(F):5'- ATATTAGTGCCAGGTCCTACCAGTG -3'
(R):5'- TTGACCGCAGAGACTTGGAGTG -3'
|
Posted On |
2014-10-16 |