Incidental Mutation 'R0014:Ankrd52'
ID |
64874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd52
|
Ensembl Gene |
ENSMUSG00000014498 |
Gene Name |
ankyrin repeat domain 52 |
Synonyms |
G431002C21Rik |
MMRRC Submission |
038309-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R0014 (G1)
|
Quality Score |
132 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128212993-128229875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 128222321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 583
(T583K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
|
AlphaFold |
Q8BTI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014642
AA Change: T583K
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000014642 Gene: ENSMUSG00000014498 AA Change: T583K
Domain | Start | End | E-Value | Type |
ANK
|
7 |
36 |
4.44e2 |
SMART |
ANK
|
40 |
69 |
6.55e-5 |
SMART |
ANK
|
73 |
102 |
1.03e-2 |
SMART |
ANK
|
106 |
135 |
1.5e1 |
SMART |
ANK
|
139 |
168 |
5.49e-7 |
SMART |
ANK
|
172 |
201 |
3.01e-4 |
SMART |
ANK
|
205 |
234 |
1.2e-3 |
SMART |
ANK
|
238 |
267 |
2.62e-4 |
SMART |
ANK
|
271 |
301 |
9.78e-4 |
SMART |
ANK
|
305 |
334 |
3.85e-2 |
SMART |
ANK
|
338 |
367 |
5.62e-4 |
SMART |
ANK
|
371 |
402 |
1.55e2 |
SMART |
ANK
|
422 |
451 |
2.16e-5 |
SMART |
ANK
|
455 |
484 |
3.28e-5 |
SMART |
ANK
|
488 |
545 |
2.79e1 |
SMART |
ANK
|
549 |
578 |
5.45e-2 |
SMART |
ANK
|
584 |
613 |
1.84e1 |
SMART |
ANK
|
617 |
646 |
3.85e-2 |
SMART |
ANK
|
651 |
682 |
2.1e-3 |
SMART |
ANK
|
687 |
716 |
6.76e-7 |
SMART |
ANK
|
720 |
749 |
1.07e0 |
SMART |
ANK
|
753 |
784 |
2.92e-2 |
SMART |
ANK
|
790 |
819 |
1.12e-3 |
SMART |
ANK
|
822 |
853 |
9.75e1 |
SMART |
ANK
|
857 |
886 |
1.99e-4 |
SMART |
ANK
|
890 |
920 |
5.09e-2 |
SMART |
ANK
|
924 |
953 |
2.54e-2 |
SMART |
ANK
|
960 |
989 |
1.34e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166577
|
SMART Domains |
Protein: ENSMUSP00000128794 Gene: ENSMUSG00000014498
Domain | Start | End | E-Value | Type |
ANK
|
18 |
48 |
5.09e-2 |
SMART |
ANK
|
52 |
81 |
2.54e-2 |
SMART |
ANK
|
88 |
117 |
1.34e-1 |
SMART |
Blast:ANK
|
121 |
148 |
3e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167990
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198839
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
C3ar1 |
C |
T |
6: 122,827,810 (GRCm39) |
V136M |
probably damaging |
Het |
Capg |
A |
G |
6: 72,538,026 (GRCm39) |
E304G |
possibly damaging |
Het |
Ccdc125 |
A |
C |
13: 100,820,846 (GRCm39) |
N189T |
possibly damaging |
Het |
Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
Cd2ap |
T |
C |
17: 43,118,819 (GRCm39) |
S540G |
probably benign |
Het |
Cdt1 |
C |
T |
8: 123,299,305 (GRCm39) |
T529M |
probably benign |
Het |
Cfap126 |
A |
G |
1: 170,953,353 (GRCm39) |
D49G |
possibly damaging |
Het |
Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
Dgkd |
A |
G |
1: 87,809,603 (GRCm39) |
D97G |
probably damaging |
Het |
Dgkg |
A |
T |
16: 22,384,114 (GRCm39) |
|
probably null |
Het |
Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
Klhl28 |
T |
C |
12: 65,004,076 (GRCm39) |
T146A |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
Man2c1 |
T |
A |
9: 57,046,985 (GRCm39) |
M580K |
probably benign |
Het |
Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
Nyap2 |
T |
C |
1: 81,219,666 (GRCm39) |
S563P |
probably damaging |
Het |
Or2at4 |
T |
C |
7: 99,385,256 (GRCm39) |
V302A |
probably damaging |
Het |
Or4k51 |
A |
G |
2: 111,585,119 (GRCm39) |
D175G |
probably damaging |
Het |
Or55b3 |
A |
G |
7: 102,126,684 (GRCm39) |
I131T |
probably damaging |
Het |
P2rx5 |
T |
A |
11: 73,057,888 (GRCm39) |
|
probably benign |
Het |
Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
Ptpdc1 |
G |
T |
13: 48,740,395 (GRCm39) |
Y345* |
probably null |
Het |
Rcbtb1 |
G |
T |
14: 59,472,691 (GRCm39) |
K493N |
probably benign |
Het |
Rexo2 |
A |
T |
9: 48,385,747 (GRCm39) |
S126T |
probably benign |
Het |
Rorc |
T |
A |
3: 94,284,920 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
Syde1 |
T |
C |
10: 78,425,868 (GRCm39) |
T100A |
probably benign |
Het |
Tbc1d20 |
A |
T |
2: 152,153,701 (GRCm39) |
Q342L |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,943,831 (GRCm39) |
T150A |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,897,970 (GRCm39) |
H317R |
probably damaging |
Het |
Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,829,130 (GRCm39) |
F1029L |
possibly damaging |
Het |
Wdr7 |
A |
G |
18: 64,037,172 (GRCm39) |
T1199A |
probably benign |
Het |
Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,503,344 (GRCm39) |
F738L |
possibly damaging |
Het |
|
Other mutations in Ankrd52 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0014:Ankrd52
|
UTSW |
10 |
128,222,321 (GRCm39) |
missense |
probably benign |
0.37 |
R0139:Ankrd52
|
UTSW |
10 |
128,222,007 (GRCm39) |
missense |
probably benign |
0.35 |
R0226:Ankrd52
|
UTSW |
10 |
128,225,727 (GRCm39) |
splice site |
probably null |
|
R1355:Ankrd52
|
UTSW |
10 |
128,224,565 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1370:Ankrd52
|
UTSW |
10 |
128,224,565 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2190:Ankrd52
|
UTSW |
10 |
128,219,487 (GRCm39) |
missense |
probably benign |
0.01 |
R2566:Ankrd52
|
UTSW |
10 |
128,225,220 (GRCm39) |
missense |
probably benign |
0.39 |
R3884:Ankrd52
|
UTSW |
10 |
128,224,824 (GRCm39) |
missense |
probably damaging |
0.96 |
R4624:Ankrd52
|
UTSW |
10 |
128,225,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4706:Ankrd52
|
UTSW |
10 |
128,214,030 (GRCm39) |
missense |
probably benign |
|
R4750:Ankrd52
|
UTSW |
10 |
128,213,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Ankrd52
|
UTSW |
10 |
128,216,814 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4965:Ankrd52
|
UTSW |
10 |
128,226,376 (GRCm39) |
missense |
probably benign |
0.08 |
R5060:Ankrd52
|
UTSW |
10 |
128,225,710 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5446:Ankrd52
|
UTSW |
10 |
128,224,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R5798:Ankrd52
|
UTSW |
10 |
128,223,479 (GRCm39) |
missense |
probably benign |
0.01 |
R5977:Ankrd52
|
UTSW |
10 |
128,218,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5998:Ankrd52
|
UTSW |
10 |
128,218,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R6107:Ankrd52
|
UTSW |
10 |
128,222,881 (GRCm39) |
missense |
probably benign |
0.19 |
R6478:Ankrd52
|
UTSW |
10 |
128,215,200 (GRCm39) |
splice site |
probably null |
|
R6579:Ankrd52
|
UTSW |
10 |
128,223,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R6937:Ankrd52
|
UTSW |
10 |
128,222,889 (GRCm39) |
missense |
probably benign |
0.42 |
R7078:Ankrd52
|
UTSW |
10 |
128,219,526 (GRCm39) |
missense |
probably benign |
0.01 |
R7101:Ankrd52
|
UTSW |
10 |
128,218,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R7252:Ankrd52
|
UTSW |
10 |
128,217,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R7324:Ankrd52
|
UTSW |
10 |
128,222,032 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7505:Ankrd52
|
UTSW |
10 |
128,225,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R7979:Ankrd52
|
UTSW |
10 |
128,217,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Ankrd52
|
UTSW |
10 |
128,225,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R8520:Ankrd52
|
UTSW |
10 |
128,225,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R8985:Ankrd52
|
UTSW |
10 |
128,222,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Ankrd52
|
UTSW |
10 |
128,217,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Ankrd52
|
UTSW |
10 |
128,216,457 (GRCm39) |
missense |
probably benign |
0.18 |
X0028:Ankrd52
|
UTSW |
10 |
128,217,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GATAATGGTGCAGACCCTTCCCTG -3'
(R):5'- TGGTGCTCACCTGACCCCATATAC -3'
Sequencing Primer
(F):5'- GGTGGGATCACAACCTTCAG -3'
(R):5'- ACAGTCATGCTaaaacaaaacaaaac -3'
|
Posted On |
2013-08-06 |