Incidental Mutation 'R6579:Ankrd52'
ID |
523935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd52
|
Ensembl Gene |
ENSMUSG00000014498 |
Gene Name |
ankyrin repeat domain 52 |
Synonyms |
G431002C21Rik |
MMRRC Submission |
044703-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R6579 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128212993-128229875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128223011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 654
(T654A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
|
AlphaFold |
Q8BTI7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014642
AA Change: T654A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014642 Gene: ENSMUSG00000014498 AA Change: T654A
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: ENSMUST00000167226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167990
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198839
|
Meta Mutation Damage Score |
0.8180 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
probably benign |
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 |
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 |
|
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'- CTGTGAAGCCCTGAAGACAC -3'
(R):5'- TCAGCAAGTGCAGGGAATCG -3'
Sequencing Primer
(F):5'- CCTGAAGACACTGGCTGAGAC -3'
(R):5'- AAACCTCAGTCGGGACAGTGC -3'
|
Posted On |
2018-06-22 |