Incidental Mutation 'R5798:Ankrd52'
| ID |
447315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd52
|
| Ensembl Gene |
ENSMUSG00000014498 |
| Gene Name |
ankyrin repeat domain 52 |
| Synonyms |
G431002C21Rik |
| MMRRC Submission |
043210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R5798 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128212993-128229875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128223479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 697
(M697K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
|
| AlphaFold |
Q8BTI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014642
AA Change: M697K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: M697K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,616,929 (GRCm39) |
Y1226* |
probably null |
Het |
| Ankle2 |
A |
G |
5: 110,399,401 (GRCm39) |
Y587C |
probably damaging |
Het |
| Arhgef40 |
G |
T |
14: 52,234,489 (GRCm39) |
A931S |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,884 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,047,545 (GRCm39) |
V12A |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,815,072 (GRCm39) |
C284S |
probably damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,079,205 (GRCm39) |
M491K |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,850,703 (GRCm39) |
R243W |
probably damaging |
Het |
| Homer1 |
C |
A |
13: 93,538,603 (GRCm39) |
R311S |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,191,480 (GRCm39) |
D1118G |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,881 (GRCm39) |
V215A |
probably benign |
Het |
| Or52e7 |
A |
C |
7: 104,685,344 (GRCm39) |
K313T |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,586,658 (GRCm39) |
E185K |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,111,362 (GRCm39) |
V70E |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,717,942 (GRCm39) |
T1474M |
probably damaging |
Het |
| Slc39a12 |
G |
A |
2: 14,454,637 (GRCm39) |
A516T |
probably damaging |
Het |
| Tanc2 |
TGCAGCAGCAGCAGCAGCAGCAGC |
TGCAGCAGCAGCAGCAGCAGC |
11: 105,812,681 (GRCm39) |
|
probably benign |
Het |
| Timd2 |
T |
C |
11: 46,568,064 (GRCm39) |
I243M |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,545 (GRCm39) |
S104T |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,446,892 (GRCm39) |
N420S |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,316,513 (GRCm39) |
I353T |
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 |
|
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'- CCCTGCACTTGCTGATTGAC -3'
(R):5'- CACTAGACATCTTGATGGCCTG -3'
Sequencing Primer
(F):5'- ATCACAGATGTCATGGATGCC -3'
(R):5'- TGCTTCTACCCAAGACCT -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation