Incidental Mutation 'R5060:Ankrd52'
| ID |
386570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd52
|
| Ensembl Gene |
ENSMUSG00000014498 |
| Gene Name |
ankyrin repeat domain 52 |
| Synonyms |
G431002C21Rik |
| MMRRC Submission |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R5060 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128212993-128229875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128225710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 959
(S959R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
|
| AlphaFold |
Q8BTI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014642
AA Change: S959R
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: S959R
| 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 |
unknown
Transcript: ENSMUST00000166577
AA Change: S86R
|
| SMART Domains |
Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498
AA Change: S86R
| 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
|
| Meta Mutation Damage Score |
0.0872 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
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 |
|
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'- GATGCCAGGACTCAGTACAG -3'
(R):5'- AGGTACACTGAGTAGGGTGC -3'
Sequencing Primer
(F):5'- TAACTAGGCGACCTGACTGG -3'
(R):5'- ACTGAGTAGGGTGCCAGGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation