Incidental Mutation 'R2187:Ankrd55'
| ID |
237896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd55
|
| Ensembl Gene |
ENSMUSG00000049985 |
| Gene Name |
ankyrin repeat domain 55 |
| Synonyms |
C030011J08Rik |
| MMRRC Submission |
040189-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
112424985-112520536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112520039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 575
(S575G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022275]
[ENSMUST00000165593]
|
| AlphaFold |
Q8BLD6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022275
AA Change: S603G
|
| SMART Domains |
Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: S603G
| 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 benign
Transcript: ENSMUST00000165593
AA Change: S575G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: S575G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
A |
17: 31,324,491 (GRCm39) |
S245R |
probably damaging |
Het |
| AI597479 |
T |
A |
1: 43,139,983 (GRCm39) |
W70R |
probably damaging |
Het |
| Bfsp2 |
T |
A |
9: 103,303,976 (GRCm39) |
K343* |
probably null |
Het |
| Cant1 |
A |
T |
11: 118,299,667 (GRCm39) |
Y227* |
probably null |
Het |
| Cd2bp2 |
T |
C |
7: 126,793,963 (GRCm39) |
N109D |
probably benign |
Het |
| Chmp6 |
A |
G |
11: 119,807,562 (GRCm39) |
E135G |
possibly damaging |
Het |
| Dsp |
T |
G |
13: 38,360,383 (GRCm39) |
S329R |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,234,223 (GRCm39) |
F767L |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,942,648 (GRCm39) |
T566S |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,524 (GRCm39) |
I288F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,537,266 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
A |
G |
4: 45,058,531 (GRCm39) |
V402A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,960,604 (GRCm39) |
I1604F |
probably damaging |
Het |
| Foxd4 |
T |
G |
19: 24,877,219 (GRCm39) |
Q327P |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,257,853 (GRCm39) |
N26I |
probably benign |
Het |
| Hsf5 |
G |
T |
11: 87,529,010 (GRCm39) |
G582C |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,199,231 (GRCm39) |
V522A |
possibly damaging |
Het |
| Kplce |
A |
G |
3: 92,775,922 (GRCm39) |
S254P |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,883,926 (GRCm39) |
T2938I |
possibly damaging |
Het |
| Mib2 |
T |
C |
4: 155,739,390 (GRCm39) |
E863G |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,797 (GRCm39) |
F290S |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,961,539 (GRCm39) |
Y599H |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,905,996 (GRCm39) |
I165V |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,537 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
| Nup93 |
T |
A |
8: 95,027,478 (GRCm39) |
S295R |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,621,453 (GRCm39) |
Q6L |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,555 (GRCm39) |
I46N |
probably damaging |
Het |
| Or5ak20 |
T |
G |
2: 85,184,259 (GRCm39) |
S4R |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,619 (GRCm39) |
C125S |
probably damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,557 (GRCm39) |
E109G |
probably damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,979,229 (GRCm39) |
L189Q |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,198,698 (GRCm39) |
R574C |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,100,705 (GRCm39) |
E42G |
possibly damaging |
Het |
| Prkd3 |
T |
A |
17: 79,282,983 (GRCm39) |
Q244L |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,595,425 (GRCm39) |
R1023* |
probably null |
Het |
| Ptpra |
A |
G |
2: 130,346,219 (GRCm39) |
T127A |
probably benign |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,888 (GRCm39) |
I751T |
possibly damaging |
Het |
| Rbm27 |
A |
G |
18: 42,459,022 (GRCm39) |
K697R |
probably damaging |
Het |
| Rhoa |
C |
T |
9: 108,212,352 (GRCm39) |
T127M |
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,617 (GRCm39) |
S370G |
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,100,329 (GRCm39) |
T1453I |
probably damaging |
Het |
| Sel1l2 |
A |
G |
2: 140,072,793 (GRCm39) |
L614S |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,427,653 (GRCm39) |
I419F |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,982 (GRCm39) |
S352N |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,020,532 (GRCm39) |
D547G |
probably damaging |
Het |
| Tc2n |
G |
A |
12: 101,672,803 (GRCm39) |
T46I |
probably damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,516 (GRCm39) |
Y476F |
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,399 (GRCm39) |
E237D |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,666,398 (GRCm39) |
L309P |
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 |
|
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 |
|
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'- GAATCCAGTGCTTGACGAAATC -3'
(R):5'- CCATGAATGGCTTGTAGAATGC -3'
Sequencing Primer
(F):5'- GTGCTTGACGAAATCACAGGATTCTC -3'
(R):5'- GAATGGCTTGTAGAATGCAGCTTAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation