Incidental Mutation 'R6937:Ankrd52'
| ID |
540351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd52
|
| Ensembl Gene |
ENSMUSG00000014498 |
| Gene Name |
ankyrin repeat domain 52 |
| Synonyms |
G431002C21Rik |
| MMRRC Submission |
045051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R6937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128212993-128229875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128222889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 613
(V613A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
|
| AlphaFold |
Q8BTI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014642
AA Change: V613A
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: V613A
| 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 |
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh23 |
A |
T |
10: 60,322,893 (GRCm39) |
L337Q |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,055 (GRCm39) |
L274P |
probably damaging |
Het |
| Ciita |
G |
A |
16: 10,330,355 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
A |
T |
16: 64,299,058 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,490,103 (GRCm39) |
D1691N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,280 (GRCm39) |
I1441T |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,884,634 (GRCm39) |
S1713P |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,859,018 (GRCm39) |
|
probably benign |
Het |
| Epn1 |
T |
C |
7: 5,092,943 (GRCm39) |
I85T |
probably damaging |
Het |
| Eri2 |
T |
C |
7: 119,386,012 (GRCm39) |
K228E |
probably damaging |
Het |
| Garem1 |
C |
T |
18: 21,280,827 (GRCm39) |
A510T |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,299,572 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
T |
C |
5: 100,111,629 (GRCm39) |
T321A |
probably benign |
Het |
| Htr2a |
A |
T |
14: 74,882,604 (GRCm39) |
I197F |
probably damaging |
Het |
| Krtap2-4 |
T |
A |
11: 99,505,299 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
C |
A |
2: 25,657,823 (GRCm39) |
Y179* |
probably null |
Het |
| Mak |
A |
T |
13: 41,201,578 (GRCm39) |
M261K |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,071,310 (GRCm39) |
T605A |
probably damaging |
Het |
| Mcm4 |
A |
C |
16: 15,454,199 (GRCm39) |
F83V |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,950,258 (GRCm39) |
N1546S |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,339,060 (GRCm39) |
K989N |
probably damaging |
Het |
| Ndufaf5 |
A |
G |
2: 140,023,522 (GRCm39) |
D119G |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,271,985 (GRCm39) |
V222D |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,336,528 (GRCm39) |
T36A |
possibly damaging |
Het |
| Pitpna |
C |
T |
11: 75,494,557 (GRCm39) |
T100I |
possibly damaging |
Het |
| Pmf1 |
A |
T |
3: 88,306,496 (GRCm39) |
L102Q |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,341,176 (GRCm39) |
L10P |
probably benign |
Het |
| Serpinb6a |
T |
C |
13: 34,102,801 (GRCm39) |
I241V |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,040,956 (GRCm39) |
|
probably null |
Het |
| Stat6 |
T |
C |
10: 127,494,571 (GRCm39) |
|
probably null |
Het |
| Tdpoz6 |
T |
C |
3: 93,599,523 (GRCm39) |
N282S |
probably benign |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,417 (GRCm39) |
H145R |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,091,064 (GRCm39) |
V687E |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,132,634 (GRCm39) |
S68T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,663,253 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,292,158 (GRCm39) |
D97V |
probably benign |
Het |
| Ugt8a |
G |
A |
3: 125,709,250 (GRCm39) |
|
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,750 (GRCm39) |
K165N |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,523 (GRCm39) |
I523F |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,444,311 (GRCm39) |
V588I |
probably benign |
Het |
| Wdr7 |
C |
T |
18: 63,924,938 (GRCm39) |
P974S |
probably benign |
Het |
| Zfp975 |
T |
C |
7: 42,314,480 (GRCm39) |
D31G |
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 |
|
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 |
|
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'- TTGTCTGGAAGGAGCCCAAG -3'
(R):5'- GGCTTGAAGCTTCTATCCCC -3'
Sequencing Primer
(F):5'- AGGACAACCTGTGGGACCTG -3'
(R):5'- CAGCTTAACTGCTCGGGGATTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation