Incidental Mutation 'R6130:Ankrd55'
| ID |
487107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd55
|
| Ensembl Gene |
ENSMUSG00000049985 |
| Gene Name |
ankyrin repeat domain 55 |
| Synonyms |
C030011J08Rik |
| MMRRC Submission |
044277-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
112424985-112520536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112454980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 26
(D26G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022275]
[ENSMUST00000056047]
[ENSMUST00000165593]
[ENSMUST00000168684]
[ENSMUST00000223871]
|
| AlphaFold |
Q8BLD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022275
AA Change: D26G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: D26G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
25 |
54 |
1e-9 |
BLAST |
|
ANK
|
59 |
88 |
7.64e-6 |
SMART |
|
ANK
|
92 |
121 |
4.18e2 |
SMART |
|
ANK
|
125 |
156 |
4.86e1 |
SMART |
|
ANK
|
160 |
189 |
5.32e-5 |
SMART |
|
ANK
|
193 |
222 |
7.59e-1 |
SMART |
|
ANK
|
229 |
257 |
2.97e2 |
SMART |
|
ANK
|
263 |
292 |
5.71e-5 |
SMART |
|
ANK
|
296 |
326 |
1.63e0 |
SMART |
|
low complexity region
|
528 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056047
AA Change: D26G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058891
Gene: ENSMUSG00000049985
AA Change: D26G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
25 |
54 |
6e-10 |
BLAST |
|
ANK
|
59 |
88 |
7.64e-6 |
SMART |
|
ANK
|
92 |
121 |
4.18e2 |
SMART |
|
ANK
|
125 |
156 |
4.86e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165593
|
| SMART Domains |
Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
1 |
26 |
8e-8 |
BLAST |
|
ANK
|
31 |
60 |
7.64e-6 |
SMART |
|
ANK
|
64 |
93 |
4.18e2 |
SMART |
|
ANK
|
97 |
128 |
4.86e1 |
SMART |
|
ANK
|
132 |
161 |
5.32e-5 |
SMART |
|
ANK
|
165 |
194 |
7.59e-1 |
SMART |
|
ANK
|
201 |
229 |
2.97e2 |
SMART |
|
ANK
|
235 |
264 |
5.71e-5 |
SMART |
|
ANK
|
268 |
298 |
1.63e0 |
SMART |
|
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168684
AA Change: D26G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129726
Gene: ENSMUSG00000049985
AA Change: D26G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
25 |
54 |
9e-10 |
BLAST |
|
ANK
|
59 |
88 |
7.64e-6 |
SMART |
|
ANK
|
92 |
121 |
4.18e2 |
SMART |
|
ANK
|
125 |
156 |
4.86e1 |
SMART |
|
ANK
|
160 |
189 |
5.32e-5 |
SMART |
|
ANK
|
193 |
222 |
7.59e-1 |
SMART |
|
ANK
|
229 |
257 |
2.97e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225329
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abi3 |
T |
A |
11: 95,727,921 (GRCm39) |
E90V |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,575,864 (GRCm39) |
V4834G |
probably damaging |
Het |
| Aen |
A |
T |
7: 78,552,387 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
T |
C |
5: 98,152,131 (GRCm39) |
E160G |
possibly damaging |
Het |
| Auts2 |
T |
C |
5: 131,469,061 (GRCm39) |
H528R |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,641,948 (GRCm39) |
T742A |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,895,341 (GRCm39) |
|
probably null |
Het |
| Ctla4 |
T |
C |
1: 60,951,650 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dennd4b |
T |
C |
3: 90,183,566 (GRCm39) |
L935P |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,165,477 (GRCm39) |
T543S |
probably benign |
Het |
| Dnai3 |
A |
C |
3: 145,748,559 (GRCm39) |
Y852D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,683,902 (GRCm39) |
R420* |
probably null |
Het |
| Flg |
A |
G |
3: 93,200,023 (GRCm39) |
|
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,897 (GRCm39) |
I31F |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
T |
A |
9: 78,149,847 (GRCm39) |
F220Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,395,891 (GRCm39) |
|
probably null |
Het |
| Igf2bp1 |
A |
C |
11: 95,864,846 (GRCm39) |
L201R |
probably damaging |
Het |
| Jph3 |
G |
A |
8: 122,479,826 (GRCm39) |
R168H |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,964,623 (GRCm39) |
I1318F |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,523 (GRCm39) |
N717S |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,622,569 (GRCm39) |
S450C |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,501,994 (GRCm39) |
V6535A |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,489,882 (GRCm39) |
T18A |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,598 (GRCm39) |
K22E |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,968,771 (GRCm39) |
S2534A |
possibly damaging |
Het |
| Or1j21 |
A |
T |
2: 36,684,055 (GRCm39) |
D269V |
probably benign |
Het |
| Or2ak5 |
A |
G |
11: 58,611,133 (GRCm39) |
V247A |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,580 (GRCm39) |
N545K |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,455,128 (GRCm39) |
P233L |
probably benign |
Het |
| Scap |
A |
G |
9: 110,209,447 (GRCm39) |
T707A |
possibly damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,565 (GRCm39) |
Q669R |
probably benign |
Het |
| Scin |
T |
C |
12: 40,119,435 (GRCm39) |
D531G |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,953,626 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,155 (GRCm39) |
S657G |
probably benign |
Het |
| Stil |
T |
A |
4: 114,887,058 (GRCm39) |
|
probably null |
Het |
| Syna |
T |
A |
5: 134,587,122 (GRCm39) |
Q609L |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,937,255 (GRCm39) |
S271P |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,019,676 (GRCm39) |
E522G |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,219 (GRCm39) |
A149T |
probably benign |
Het |
| Trim21 |
A |
T |
7: 102,212,498 (GRCm39) |
L156H |
possibly damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,309 (GRCm39) |
R714G |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 74,520,460 (GRCm39) |
Q206L |
possibly damaging |
Het |
|
| Other mutations in Ankrd55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Ankrd55
|
APN |
13 |
112,504,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01372:Ankrd55
|
APN |
13 |
112,459,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Ankrd55
|
APN |
13 |
112,459,601 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01700:Ankrd55
|
APN |
13 |
112,517,702 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02366:Ankrd55
|
APN |
13 |
112,454,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Ankrd55
|
APN |
13 |
112,455,090 (GRCm39) |
splice site |
probably benign |
|
|
crescat
|
UTSW |
13 |
112,485,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
Scientiam
|
UTSW |
13 |
112,492,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
I0000:Ankrd55
|
UTSW |
13 |
112,485,259 (GRCm39) |
splice site |
probably benign |
|
|
R0547:Ankrd55
|
UTSW |
13 |
112,504,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0781:Ankrd55
|
UTSW |
13 |
112,517,767 (GRCm39) |
splice site |
probably benign |
|
|
R0981:Ankrd55
|
UTSW |
13 |
112,459,610 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1072:Ankrd55
|
UTSW |
13 |
112,485,376 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1469:Ankrd55
|
UTSW |
13 |
112,504,460 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1469:Ankrd55
|
UTSW |
13 |
112,504,460 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2187:Ankrd55
|
UTSW |
13 |
112,520,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4430:Ankrd55
|
UTSW |
13 |
112,459,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4753:Ankrd55
|
UTSW |
13 |
112,500,009 (GRCm39) |
missense |
probably benign |
|
|
R4846:Ankrd55
|
UTSW |
13 |
112,499,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Ankrd55
|
UTSW |
13 |
112,459,573 (GRCm39) |
splice site |
probably null |
|
|
R4996:Ankrd55
|
UTSW |
13 |
112,492,622 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5007:Ankrd55
|
UTSW |
13 |
112,504,466 (GRCm39) |
missense |
probably benign |
|
|
R5077:Ankrd55
|
UTSW |
13 |
112,492,522 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5118:Ankrd55
|
UTSW |
13 |
112,492,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5350:Ankrd55
|
UTSW |
13 |
112,472,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Ankrd55
|
UTSW |
13 |
112,455,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Ankrd55
|
UTSW |
13 |
112,520,024 (GRCm39) |
missense |
probably benign |
|
|
R5888:Ankrd55
|
UTSW |
13 |
112,492,453 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6589:Ankrd55
|
UTSW |
13 |
112,485,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6994:Ankrd55
|
UTSW |
13 |
112,504,834 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7100:Ankrd55
|
UTSW |
13 |
112,492,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7247:Ankrd55
|
UTSW |
13 |
112,472,787 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7340:Ankrd55
|
UTSW |
13 |
112,492,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7694:Ankrd55
|
UTSW |
13 |
112,504,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Ankrd55
|
UTSW |
13 |
112,459,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8282:Ankrd55
|
UTSW |
13 |
112,459,575 (GRCm39) |
splice site |
probably benign |
|
|
R8529:Ankrd55
|
UTSW |
13 |
112,480,670 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9059:Ankrd55
|
UTSW |
13 |
112,455,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Ankrd55
|
UTSW |
13 |
112,459,610 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9189:Ankrd55
|
UTSW |
13 |
112,504,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Ankrd55
|
UTSW |
13 |
112,459,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Ankrd55
|
UTSW |
13 |
112,485,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCGTTGCAAATGACCTAG -3'
(R):5'- CATCTCTGAAAGGATAAAGCATTCC -3'
Sequencing Primer
(F):5'- AGAGTGGCCCACTTTTCTTCAGAAG -3'
(R):5'- GGATAAAGCATTCCATTCCAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation