Incidental Mutation 'R6107:Ankrd52'
ID |
485563 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd52
|
Ensembl Gene |
ENSMUSG00000014498 |
Gene Name |
ankyrin repeat domain 52 |
Synonyms |
G431002C21Rik |
MMRRC Submission |
044257-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R6107 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128212993-128229875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 128222881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 610
(N610K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
|
AlphaFold |
Q8BTI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014642
AA Change: N610K
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000014642 Gene: ENSMUSG00000014498 AA Change: N610K
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
E2f8 |
A |
G |
7: 48,517,424 (GRCm39) |
V793A |
probably benign |
Het |
Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
Fbxw19 |
C |
T |
9: 109,324,834 (GRCm39) |
V28M |
probably damaging |
Het |
Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
Med23 |
A |
T |
10: 24,781,932 (GRCm39) |
K713* |
probably null |
Het |
Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
Smurf1 |
A |
G |
5: 144,831,314 (GRCm39) |
V259A |
possibly damaging |
Het |
Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,780,104 (GRCm39) |
V680A |
probably damaging |
Het |
Ttyh3 |
A |
C |
5: 140,619,317 (GRCm39) |
|
probably null |
Het |
Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
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 |
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 |
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'- TCTACATTCTTCTTGGGATGTGACAG -3'
(R):5'- ACTCCCAGCTTAACTGCTCG -3'
Sequencing Primer
(F):5'- TGACAGGGAGGTTGTCTGGAAG -3'
(R):5'- CAGCTTAACTGCTCGGGGATTC -3'
|
Posted On |
2017-08-16 |