Incidental Mutation 'R5871:Ankrd13d'
ID |
455212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd13d
|
Ensembl Gene |
ENSMUSG00000005986 |
Gene Name |
ankyrin repeat domain 13 family, member D |
Synonyms |
0710001P18Rik |
MMRRC Submission |
043234-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5871 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4320208-4333165 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4332022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 92
(V92A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025791]
[ENSMUST00000056888]
[ENSMUST00000088737]
[ENSMUST00000113837]
[ENSMUST00000163858]
[ENSMUST00000167215]
[ENSMUST00000169192]
[ENSMUST00000171123]
|
AlphaFold |
Q6PD24 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025791
|
SMART Domains |
Protein: ENSMUSP00000025791 Gene: ENSMUSG00000024858
Domain | Start | End | E-Value | Type |
RGS
|
12 |
133 |
3.17e-30 |
SMART |
S_TKc
|
149 |
411 |
2.43e-86 |
SMART |
S_TK_X
|
412 |
491 |
5.3e-9 |
SMART |
PH
|
517 |
612 |
2.79e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056888
AA Change: V92A
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000053783 Gene: ENSMUSG00000005986 AA Change: V92A
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: ENSMUST00000088737
|
SMART Domains |
Protein: ENSMUSP00000086114 Gene: ENSMUSG00000024858
Domain | Start | End | E-Value | Type |
RGS
|
54 |
175 |
3.17e-30 |
SMART |
S_TKc
|
191 |
453 |
2.43e-86 |
SMART |
S_TK_X
|
454 |
533 |
5.3e-9 |
SMART |
PH
|
559 |
654 |
2.79e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113837
|
SMART Domains |
Protein: ENSMUSP00000109468 Gene: ENSMUSG00000024858
Domain | Start | End | E-Value | Type |
RGS
|
54 |
175 |
3.17e-30 |
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 |
possibly damaging
Transcript: ENSMUST00000167215
AA Change: V92A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128037 Gene: ENSMUSG00000005986 AA Change: V92A
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: V19A
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130995 Gene: ENSMUSG00000005986 AA Change: V19A
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 |
probably benign
Transcript: ENSMUST00000171123
|
SMART Domains |
Protein: ENSMUSP00000126930 Gene: ENSMUSG00000024858
Domain | Start | End | E-Value | Type |
RGS
|
54 |
175 |
3.17e-30 |
SMART |
Pfam:Pkinase_Tyr
|
191 |
378 |
1.1e-21 |
PFAM |
Pfam:Pkinase
|
191 |
381 |
4.9e-50 |
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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr1 |
A |
T |
1: 173,159,640 (GRCm39) |
L293Q |
probably damaging |
Het |
Anxa5 |
T |
A |
3: 36,506,398 (GRCm39) |
Q218L |
possibly damaging |
Het |
Bend6 |
T |
C |
1: 33,902,946 (GRCm39) |
M135V |
probably damaging |
Het |
Ccr5 |
T |
C |
9: 123,924,558 (GRCm39) |
F54L |
probably benign |
Het |
Chrng |
T |
C |
1: 87,134,451 (GRCm39) |
V164A |
possibly damaging |
Het |
Clca3a1 |
T |
G |
3: 144,460,642 (GRCm39) |
S271R |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,752,112 (GRCm39) |
T1282I |
probably damaging |
Het |
Dock10 |
C |
A |
1: 80,519,057 (GRCm39) |
|
probably null |
Het |
Esrrb |
A |
G |
12: 86,552,661 (GRCm39) |
Y196C |
probably benign |
Het |
Fam76a |
T |
C |
4: 132,631,321 (GRCm39) |
D208G |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,533,243 (GRCm39) |
E520G |
probably benign |
Het |
Fgf9 |
A |
T |
14: 58,320,656 (GRCm39) |
|
probably null |
Het |
Gatb |
T |
A |
3: 85,561,083 (GRCm39) |
L533* |
probably null |
Het |
Igsf10 |
G |
T |
3: 59,237,832 (GRCm39) |
A783D |
possibly damaging |
Het |
Ldlrap1 |
A |
G |
4: 134,486,240 (GRCm39) |
I73T |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,507,280 (GRCm39) |
|
probably benign |
Het |
Msr1 |
G |
A |
8: 40,064,693 (GRCm39) |
P327L |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,723,306 (GRCm39) |
Y823H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,853,039 (GRCm39) |
E835G |
probably damaging |
Het |
Nfam1 |
A |
G |
15: 82,900,623 (GRCm39) |
S120P |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,367,984 (GRCm39) |
S217P |
probably damaging |
Het |
Or56a3 |
T |
C |
7: 104,735,511 (GRCm39) |
V196A |
possibly damaging |
Het |
Or8b49 |
T |
A |
9: 38,505,628 (GRCm39) |
I37K |
possibly damaging |
Het |
Or9m2 |
T |
C |
2: 87,821,355 (GRCm39) |
F300S |
possibly damaging |
Het |
Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
Pik3r3 |
G |
T |
4: 116,143,355 (GRCm39) |
E283* |
probably null |
Het |
Plcg2 |
T |
A |
8: 118,230,956 (GRCm39) |
Y13N |
probably damaging |
Het |
Pth2r |
C |
T |
1: 65,427,796 (GRCm39) |
P490S |
probably damaging |
Het |
Rnf40 |
T |
A |
7: 127,190,757 (GRCm39) |
M275K |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,948,014 (GRCm39) |
E1223G |
possibly damaging |
Het |
Sec14l5 |
T |
A |
16: 4,986,717 (GRCm39) |
N168K |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,005,045 (GRCm39) |
V425A |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,387,027 (GRCm39) |
V13A |
probably damaging |
Het |
Svil |
T |
A |
18: 5,103,669 (GRCm39) |
|
probably null |
Het |
Tbrg1 |
A |
G |
9: 37,562,278 (GRCm39) |
I300T |
probably damaging |
Het |
Tnni3k |
T |
A |
3: 154,736,007 (GRCm39) |
D112V |
probably benign |
Het |
Ubxn1 |
A |
G |
19: 8,851,576 (GRCm39) |
Q203R |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,381 (GRCm39) |
D180G |
possibly damaging |
Het |
Usp14 |
A |
G |
18: 9,996,234 (GRCm39) |
F449L |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,321,458 (GRCm39) |
L552P |
unknown |
Het |
Zscan10 |
A |
G |
17: 23,826,241 (GRCm39) |
|
probably benign |
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 |
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'- CTTGGCAGAGGTTGAGACACAG -3'
(R):5'- CCGACATAATGCCAACGTGG -3'
Sequencing Primer
(F):5'- ATGGTGGGAAAGCGTCTCG -3'
(R):5'- CCAACGTGGGCAAAGAGAGC -3'
|
Posted On |
2017-02-10 |