Incidental Mutation 'R5446:Ankrd52'
| ID |
429083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd52
|
| Ensembl Gene |
ENSMUSG00000014498 |
| Gene Name |
ankyrin repeat domain 52 |
| Synonyms |
G431002C21Rik |
| MMRRC Submission |
043011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R5446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128212993-128229875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 128224430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 736
(C736F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
|
| AlphaFold |
Q8BTI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014642
AA Change: C736F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: C736F
| 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: ENSMUST00000198839
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,647,486 (GRCm39) |
N155S |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,296,505 (GRCm39) |
D1417G |
possibly damaging |
Het |
| Arhgap15 |
T |
A |
2: 43,718,772 (GRCm39) |
H85Q |
probably benign |
Het |
| Bcat2 |
G |
A |
7: 45,234,569 (GRCm39) |
R110H |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,823,564 (GRCm39) |
H4R |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,779,684 (GRCm39) |
I126V |
probably damaging |
Het |
| Cnbd2 |
A |
C |
2: 156,209,581 (GRCm39) |
E508A |
possibly damaging |
Het |
| Crb2 |
T |
C |
2: 37,685,461 (GRCm39) |
I1191T |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,144,217 (GRCm39) |
T1075A |
probably benign |
Het |
| Edil3 |
A |
C |
13: 89,332,957 (GRCm39) |
H371P |
possibly damaging |
Het |
| Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,523,030 (GRCm39) |
V737A |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,707,786 (GRCm39) |
V809A |
probably benign |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,479,502 (GRCm39) |
D276G |
probably null |
Het |
| Lipm |
C |
T |
19: 34,095,287 (GRCm39) |
A294V |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,880,462 (GRCm39) |
N1185D |
possibly damaging |
Het |
| Mmp27 |
T |
A |
9: 7,573,516 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,130 (GRCm39) |
L191P |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,711,893 (GRCm39) |
H241L |
probably damaging |
Het |
| Paip2b |
T |
C |
6: 83,791,844 (GRCm39) |
I13V |
probably benign |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,253 (GRCm39) |
L411Q |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,767,410 (GRCm39) |
N266S |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,337,368 (GRCm39) |
T454A |
possibly damaging |
Het |
| Prkcg |
A |
T |
7: 3,378,780 (GRCm39) |
Y675F |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 138,835,066 (GRCm39) |
I169N |
probably damaging |
Het |
| Rreb1 |
G |
A |
13: 38,082,473 (GRCm39) |
R86H |
possibly damaging |
Het |
| Smok3c |
A |
C |
5: 138,062,895 (GRCm39) |
L127F |
probably damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,657,095 (GRCm39) |
M427L |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,722 (GRCm39) |
T205A |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,659,867 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,231 (GRCm39) |
Y564C |
probably damaging |
Het |
| Vmn2r90 |
A |
C |
17: 17,932,464 (GRCm39) |
T124P |
probably damaging |
Het |
| Vpreb1a |
A |
T |
16: 16,686,554 (GRCm39) |
V112E |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,816,609 (GRCm39) |
L447S |
probably damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,107 (GRCm39) |
T539A |
probably 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 |
|
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'- GTGGCTATTCAGACTGTCAGGAG -3'
(R):5'- ACTAGTACCAGTGTAGGAGGCC -3'
Sequencing Primer
(F):5'- GCTATTCAGACTGTCAGGAGTATAGC -3'
(R):5'- AGTGCATGGGCGAGTATCC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation