Incidental Mutation 'R2376:Ankrd13d'
| ID |
248294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd13d
|
| Ensembl Gene |
ENSMUSG00000005986 |
| Gene Name |
ankyrin repeat domain 13 family, member D |
| Synonyms |
0710001P18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2376 (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 A
at 4322623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 350
(I350F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037992]
[ENSMUST00000056888]
[ENSMUST00000113852]
[ENSMUST00000163858]
[ENSMUST00000166031]
[ENSMUST00000169192]
|
| AlphaFold |
Q6PD24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037992
|
| SMART Domains |
Protein: ENSMUSP00000047718
Gene: ENSMUSG00000034616
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
268 |
321 |
3.3e-18 |
PFAM |
|
DSPc
|
325 |
463 |
7.25e-42 |
SMART |
|
low complexity region
|
488 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056888
AA Change: I350F
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
AA Change: I350F
| 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: ENSMUST00000113852
|
| SMART Domains |
Protein: ENSMUSP00000109483
Gene: ENSMUSG00000034616
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
273 |
324 |
1.1e-15 |
PFAM |
|
DSPc
|
329 |
467 |
7.25e-42 |
SMART |
|
low complexity region
|
492 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
|
| 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 |
probably benign
Transcript: ENSMUST00000166031
|
| SMART Domains |
Protein: ENSMUSP00000130505
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169192
|
| SMART Domains |
Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986
| 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 |
probably benign
Transcript: ENSMUST00000170283
|
| SMART Domains |
Protein: ENSMUSP00000126349
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPCR_chapero_1
|
1 |
98 |
9.3e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,889,812 (GRCm39) |
V254E |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,414 (GRCm39) |
M232T |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,356,734 (GRCm39) |
V134A |
probably damaging |
Het |
| Catsperz |
A |
T |
19: 6,902,266 (GRCm39) |
L76H |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,941,658 (GRCm39) |
V17A |
probably benign |
Het |
| Hrob |
A |
G |
11: 102,141,542 (GRCm39) |
D14G |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,217,695 (GRCm39) |
|
probably null |
Het |
| Myh9 |
G |
T |
15: 77,667,617 (GRCm39) |
D605E |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,959,950 (GRCm39) |
A3515T |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,909 (GRCm39) |
K389R |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,430 (GRCm39) |
V2138I |
probably benign |
Het |
| Pou4f2 |
T |
G |
8: 79,162,814 (GRCm39) |
S74R |
unknown |
Het |
| Ptpn21 |
A |
T |
12: 98,654,573 (GRCm39) |
M798K |
possibly damaging |
Het |
| Rhag |
G |
T |
17: 41,122,254 (GRCm39) |
|
probably null |
Het |
| Utp6 |
C |
G |
11: 79,846,439 (GRCm39) |
E181Q |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,529 (GRCm39) |
Q1144K |
possibly damaging |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,785 (GRCm39) |
V47D |
probably 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 |
|
R2277:Ankrd13d
|
UTSW |
19 |
4,331,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GTGGTTAGAGACATGGCTCC -3'
(R):5'- TCCTCCCACACTTTGGTGAG -3'
Sequencing Primer
(F):5'- GGTTAGAGACATGGCTCCCACAC -3'
(R):5'- CACACTTTGGTGAGCTTGCCTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation