Incidental Mutation 'R9059:Ankrd55'
| ID |
688882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd55
|
| Ensembl Gene |
ENSMUSG00000049985 |
| Gene Name |
ankyrin repeat domain 55 |
| Synonyms |
C030011J08Rik |
| MMRRC Submission |
068885-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9059 (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 112455073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 57
(D57G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022275]
[ENSMUST00000056047]
[ENSMUST00000165593]
[ENSMUST00000168684]
[ENSMUST00000223871]
|
| AlphaFold |
Q8BLD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022275
AA Change: D57G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: D57G
| 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: D57G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058891
Gene: ENSMUSG00000049985
AA Change: D57G
| 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 damaging
Transcript: ENSMUST00000165593
AA Change: D29G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: D29G
| 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: D57G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129726
Gene: ENSMUSG00000049985
AA Change: D57G
| 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 |
possibly damaging
Transcript: ENSMUST00000223871
AA Change: D29G
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,124,732 (GRCm39) |
D48E |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,959,850 (GRCm39) |
T101A |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,634,829 (GRCm39) |
S316P |
probably benign |
Het |
| Acta2 |
G |
T |
19: 34,219,155 (GRCm39) |
A349D |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,562,692 (GRCm39) |
|
probably null |
Het |
| Azin2 |
A |
G |
4: 128,828,440 (GRCm39) |
Y351H |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,079,400 (GRCm39) |
C246R |
probably damaging |
Het |
| Col25a1 |
C |
A |
3: 130,268,499 (GRCm39) |
Q179K |
unknown |
Het |
| Ddx46 |
C |
T |
13: 55,799,921 (GRCm39) |
A277V |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,022,798 (GRCm39) |
N792I |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 118,094,578 (GRCm39) |
P830L |
probably benign |
Het |
| Dnah3 |
C |
G |
7: 119,684,368 (GRCm39) |
R252S |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,245,812 (GRCm39) |
D550G |
probably benign |
Het |
| Dph3 |
T |
C |
14: 31,807,384 (GRCm39) |
N31D |
probably benign |
Het |
| Dsg1c |
A |
T |
18: 20,408,306 (GRCm39) |
T452S |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,604,182 (GRCm39) |
M883K |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,642,689 (GRCm39) |
V1104A |
possibly damaging |
Het |
| Epn1 |
T |
G |
7: 5,098,067 (GRCm39) |
S293A |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,688,841 (GRCm39) |
Y318* |
probably null |
Het |
| Hip1 |
A |
G |
5: 135,457,597 (GRCm39) |
L703P |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igf2r |
GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC |
GCAGCCCTCCATAGGCGC |
17: 12,970,180 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Larp4 |
A |
G |
15: 99,889,693 (GRCm39) |
E204G |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,645,119 (GRCm39) |
I511T |
|
Het |
| Lingo3 |
G |
T |
10: 80,670,523 (GRCm39) |
T469K |
probably benign |
Het |
| Lrrc30 |
A |
T |
17: 67,938,798 (GRCm39) |
W261R |
probably damaging |
Het |
| Man2b1 |
T |
C |
8: 85,818,155 (GRCm39) |
V442A |
probably damaging |
Het |
| Mroh3 |
T |
A |
1: 136,109,533 (GRCm39) |
R891S |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,650,606 (GRCm39) |
M1620L |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,668,899 (GRCm39) |
V253A |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,277 (GRCm39) |
C139S |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,722 (GRCm39) |
N140Y |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,883,254 (GRCm39) |
V294A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,877,117 (GRCm39) |
D980E |
probably damaging |
Het |
| Rdh11 |
T |
A |
12: 79,238,713 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,365,805 (GRCm39) |
L558R |
probably damaging |
Het |
| Slc22a26 |
C |
T |
19: 7,762,559 (GRCm39) |
M460I |
probably benign |
Het |
| Smc1b |
G |
A |
15: 85,004,875 (GRCm39) |
Q400* |
probably null |
Het |
| Spg11 |
T |
C |
2: 121,918,788 (GRCm39) |
E947G |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,876,805 (GRCm39) |
I840V |
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,617,277 (GRCm39) |
T68A |
possibly damaging |
Het |
| Traip |
A |
G |
9: 107,840,549 (GRCm39) |
I273V |
probably benign |
Het |
| Trim30c |
T |
G |
7: 104,031,272 (GRCm39) |
*514C |
probably null |
Het |
| U2surp |
A |
G |
9: 95,363,716 (GRCm39) |
Y615H |
probably 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 |
|
R6130:Ankrd55
|
UTSW |
13 |
112,454,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCACTTGTGTGGGTGACAATC -3'
(R):5'- TTCTGTGTCCAGTGTCATGC -3'
Sequencing Primer
(F):5'- GACAATCTGGTCTTGTGGTATTC -3'
(R):5'- GTCCAGTGTCATGCTGAAAAATGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation