Incidental Mutation 'R0673:Ankrd13d'
| ID |
61547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd13d
|
| Ensembl Gene |
ENSMUSG00000005986 |
| Gene Name |
ankyrin repeat domain 13 family, member D |
| Synonyms |
0710001P18Rik |
| MMRRC Submission |
038858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0673 (G1)
|
| Quality Score |
140 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4320208-4333165 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 4323047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000056888
|
| SMART Domains |
Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| 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 |
|---|
| 1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
| Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
| Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,351,984 (GRCm39) |
D287G |
possibly damaging |
Het |
| Dgkq |
T |
C |
5: 108,803,455 (GRCm39) |
H217R |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,122,647 (GRCm39) |
R92S |
probably damaging |
Het |
| Ei24 |
T |
G |
9: 36,699,551 (GRCm39) |
|
probably null |
Het |
| Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,945,379 (GRCm39) |
I485F |
probably damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
| Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
| Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,544 (GRCm39) |
V440M |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
| Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
| Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,280 (GRCm39) |
S415P |
probably benign |
Het |
| Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
| Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
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 |
|
|
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 |
|
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'- TCAGTATGCACAAGGAGAAAGCACC -3'
(R):5'- TGATTGTGAGGAATGGGCTCTGAAC -3'
Sequencing Primer
(F):5'- GCAAGCTCACCAAAGTGTG -3'
(R):5'- AATGGGCTCTGAACCCTGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation