Incidental Mutation 'R8189:Ankrd13d'
ID |
635048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd13d
|
Ensembl Gene |
ENSMUSG00000005986 |
Gene Name |
ankyrin repeat domain 13 family, member D |
Synonyms |
0710001P18Rik |
MMRRC Submission |
067612-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8189 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4320208-4333165 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4320880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 516
(P516S)
|
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 |
probably benign
Transcript: ENSMUST00000056888
AA Change: P516S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000053783 Gene: ENSMUSG00000005986 AA Change: P516S
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (42/42) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,324,885 (GRCm39) |
I1531T |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,364,214 (GRCm39) |
|
probably null |
Het |
Cchcr1 |
A |
G |
17: 35,837,563 (GRCm39) |
I422V |
probably benign |
Het |
Ceacam1 |
A |
G |
7: 25,173,343 (GRCm39) |
S282P |
probably damaging |
Het |
Chka |
G |
T |
19: 3,925,759 (GRCm39) |
E159* |
probably null |
Het |
Ckmt2 |
T |
C |
13: 92,003,894 (GRCm39) |
Y368C |
probably damaging |
Het |
Cngb1 |
TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG |
TTCTGGCTCTGGCTCTGGCTCTGG |
8: 96,030,248 (GRCm39) |
|
probably benign |
Het |
Ctsq |
A |
G |
13: 61,184,969 (GRCm39) |
L239P |
probably damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,135,106 (GRCm39) |
L1358P |
probably damaging |
Het |
Dglucy |
G |
A |
12: 100,804,889 (GRCm39) |
E127K |
probably benign |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
Fgd6 |
T |
C |
10: 93,910,077 (GRCm39) |
L794P |
probably benign |
Het |
Fgfr2 |
G |
A |
7: 129,774,629 (GRCm39) |
T654I |
probably damaging |
Het |
Gmeb2 |
G |
A |
2: 180,919,760 (GRCm39) |
T38M |
probably damaging |
Het |
Gria1 |
T |
C |
11: 57,108,625 (GRCm39) |
F243L |
probably benign |
Het |
Gria2 |
A |
T |
3: 80,629,489 (GRCm39) |
D244E |
probably damaging |
Het |
Ints2 |
T |
A |
11: 86,106,396 (GRCm39) |
I1005F |
probably damaging |
Het |
Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
Kmt2b |
A |
G |
7: 30,268,756 (GRCm39) |
F2658L |
probably damaging |
Het |
Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,013,164 (GRCm39) |
D27G |
probably damaging |
Het |
Mrgprb2 |
G |
T |
7: 48,202,502 (GRCm39) |
Y74* |
probably null |
Het |
Mtrex |
T |
A |
13: 113,028,515 (GRCm39) |
R628S |
possibly damaging |
Het |
Nrcam |
C |
A |
12: 44,617,291 (GRCm39) |
P740T |
possibly damaging |
Het |
Nrxn1 |
C |
T |
17: 91,011,637 (GRCm39) |
V331I |
probably damaging |
Het |
Or2a57 |
T |
C |
6: 43,213,013 (GRCm39) |
V157A |
probably benign |
Het |
Or4f17-ps1 |
T |
C |
2: 111,358,118 (GRCm39) |
V153A |
|
Het |
Or5k1b |
T |
A |
16: 58,581,288 (GRCm39) |
N84Y |
probably damaging |
Het |
Or5p52 |
A |
G |
7: 107,501,939 (GRCm39) |
N5S |
probably damaging |
Het |
Or6c66b |
T |
A |
10: 129,377,122 (GRCm39) |
C239S |
probably damaging |
Het |
Pla2g4a |
A |
G |
1: 149,733,337 (GRCm39) |
F479L |
probably benign |
Het |
Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
Scaper |
A |
T |
9: 55,819,404 (GRCm39) |
F104I |
probably damaging |
Het |
Serpinb3c |
A |
T |
1: 107,204,039 (GRCm39) |
C58S |
probably benign |
Het |
Setdb1 |
A |
G |
3: 95,254,022 (GRCm39) |
V260A |
probably damaging |
Het |
Shank3 |
A |
G |
15: 89,433,439 (GRCm39) |
T1395A |
probably benign |
Het |
Slc35b4 |
A |
G |
6: 34,144,570 (GRCm39) |
I95T |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,635,575 (GRCm39) |
V599A |
probably benign |
Het |
Ttk |
A |
G |
9: 83,729,272 (GRCm39) |
S352G |
probably benign |
Het |
Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
Usp17le |
C |
T |
7: 104,418,555 (GRCm39) |
D196N |
probably damaging |
Het |
Vmn2r15 |
A |
G |
5: 109,434,713 (GRCm39) |
F664L |
probably benign |
Het |
Vmn2r94 |
A |
T |
17: 18,478,618 (GRCm39) |
L43Q |
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 |
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 |
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'- AGCCCATGCAATTTTGAGAAC -3'
(R):5'- TGCAGTTTGCCATCCAGCAG -3'
Sequencing Primer
(F):5'- AGAGACAAGCAGGCCCTCTTTTG -3'
(R):5'- TTGCCATCCAGCAGAGCCTG -3'
|
Posted On |
2020-07-13 |