Incidental Mutation 'R8011:Ankrd27'
ID |
616909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd27
|
Ensembl Gene |
ENSMUSG00000034867 |
Gene Name |
ankyrin repeat domain 27 |
Synonyms |
Varp, D330003H11Rik |
MMRRC Submission |
046051-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8011 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35316306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 524
(V524A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000190503]
[ENSMUST00000206472]
[ENSMUST00000206632]
|
AlphaFold |
Q3UMR0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040844
AA Change: V524A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000041751 Gene: ENSMUSG00000034867 AA Change: V524A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
8 |
37 |
2e-8 |
BLAST |
VPS9
|
264 |
380 |
1.92e-7 |
SMART |
Blast:ANK
|
393 |
418 |
8e-9 |
BLAST |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
ANK
|
462 |
491 |
8.65e-5 |
SMART |
ANK
|
495 |
524 |
1.8e-2 |
SMART |
ANK
|
528 |
558 |
2.45e-4 |
SMART |
ANK
|
564 |
593 |
6.46e-4 |
SMART |
low complexity region
|
638 |
658 |
N/A |
INTRINSIC |
ANK
|
742 |
774 |
8.39e-3 |
SMART |
ANK
|
775 |
804 |
5.93e-3 |
SMART |
ANK
|
808 |
837 |
4.46e-7 |
SMART |
ANK
|
841 |
870 |
2.81e-4 |
SMART |
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190503
AA Change: V524A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000140259 Gene: ENSMUSG00000034867 AA Change: V524A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
8 |
37 |
2e-8 |
BLAST |
VPS9
|
264 |
380 |
1.92e-7 |
SMART |
Blast:ANK
|
393 |
418 |
7e-9 |
BLAST |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
ANK
|
462 |
491 |
8.65e-5 |
SMART |
ANK
|
495 |
524 |
1.8e-2 |
SMART |
ANK
|
528 |
558 |
2.45e-4 |
SMART |
ANK
|
564 |
593 |
6.46e-4 |
SMART |
low complexity region
|
638 |
658 |
N/A |
INTRINSIC |
ANK
|
687 |
719 |
8.39e-3 |
SMART |
ANK
|
720 |
749 |
5.93e-3 |
SMART |
ANK
|
753 |
782 |
4.46e-7 |
SMART |
ANK
|
786 |
815 |
2.81e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206472
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206632
|
Meta Mutation Damage Score |
0.0734 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
C |
T |
9: 124,056,529 (GRCm39) |
E132K |
|
Het |
Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
Col5a1 |
G |
A |
2: 27,870,533 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
Fgr |
T |
C |
4: 132,725,790 (GRCm39) |
Y400H |
probably damaging |
Het |
Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,722,472 (GRCm39) |
|
probably null |
Het |
Rgs6 |
A |
G |
12: 83,163,066 (GRCm39) |
D424G |
probably null |
Het |
Rnf13 |
T |
G |
3: 57,714,491 (GRCm39) |
Y183* |
probably null |
Het |
Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
Tnk2 |
C |
T |
16: 32,487,183 (GRCm39) |
R127C |
probably benign |
Het |
Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly damaging |
Het |
|
Other mutations in Ankrd27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02021:Ankrd27
|
APN |
7 |
35,313,881 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02205:Ankrd27
|
APN |
7 |
35,316,364 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02372:Ankrd27
|
APN |
7 |
35,332,461 (GRCm39) |
splice site |
probably null |
|
IGL02629:Ankrd27
|
APN |
7 |
35,325,121 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03394:Ankrd27
|
APN |
7 |
35,306,523 (GRCm39) |
splice site |
probably null |
|
deep_blue
|
UTSW |
7 |
35,307,880 (GRCm39) |
missense |
probably benign |
0.01 |
Rapture
|
UTSW |
7 |
35,302,009 (GRCm39) |
critical splice donor site |
probably null |
|
R0008:Ankrd27
|
UTSW |
7 |
35,303,125 (GRCm39) |
missense |
probably benign |
0.11 |
R0008:Ankrd27
|
UTSW |
7 |
35,303,125 (GRCm39) |
missense |
probably benign |
0.11 |
R0233:Ankrd27
|
UTSW |
7 |
35,300,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:Ankrd27
|
UTSW |
7 |
35,300,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Ankrd27
|
UTSW |
7 |
35,318,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Ankrd27
|
UTSW |
7 |
35,318,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R0281:Ankrd27
|
UTSW |
7 |
35,318,796 (GRCm39) |
missense |
probably damaging |
0.98 |
R0373:Ankrd27
|
UTSW |
7 |
35,337,478 (GRCm39) |
missense |
probably benign |
0.00 |
R0833:Ankrd27
|
UTSW |
7 |
35,307,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R0836:Ankrd27
|
UTSW |
7 |
35,307,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R1191:Ankrd27
|
UTSW |
7 |
35,301,912 (GRCm39) |
missense |
probably damaging |
0.96 |
R1394:Ankrd27
|
UTSW |
7 |
35,315,294 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1395:Ankrd27
|
UTSW |
7 |
35,315,294 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1493:Ankrd27
|
UTSW |
7 |
35,307,790 (GRCm39) |
missense |
probably benign |
0.11 |
R1648:Ankrd27
|
UTSW |
7 |
35,303,278 (GRCm39) |
missense |
probably benign |
0.00 |
R1664:Ankrd27
|
UTSW |
7 |
35,306,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Ankrd27
|
UTSW |
7 |
35,313,946 (GRCm39) |
missense |
probably benign |
0.01 |
R1717:Ankrd27
|
UTSW |
7 |
35,327,871 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1919:Ankrd27
|
UTSW |
7 |
35,332,410 (GRCm39) |
missense |
probably benign |
|
R1956:Ankrd27
|
UTSW |
7 |
35,303,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R2276:Ankrd27
|
UTSW |
7 |
35,315,265 (GRCm39) |
unclassified |
probably benign |
|
R3000:Ankrd27
|
UTSW |
7 |
35,307,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R4604:Ankrd27
|
UTSW |
7 |
35,327,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Ankrd27
|
UTSW |
7 |
35,337,659 (GRCm39) |
missense |
probably benign |
|
R4838:Ankrd27
|
UTSW |
7 |
35,291,231 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4896:Ankrd27
|
UTSW |
7 |
35,307,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R4973:Ankrd27
|
UTSW |
7 |
35,332,417 (GRCm39) |
missense |
probably benign |
|
R5004:Ankrd27
|
UTSW |
7 |
35,307,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R5069:Ankrd27
|
UTSW |
7 |
35,327,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R5182:Ankrd27
|
UTSW |
7 |
35,327,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Ankrd27
|
UTSW |
7 |
35,315,351 (GRCm39) |
nonsense |
probably null |
|
R5458:Ankrd27
|
UTSW |
7 |
35,291,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R6293:Ankrd27
|
UTSW |
7 |
35,307,885 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6341:Ankrd27
|
UTSW |
7 |
35,326,828 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6721:Ankrd27
|
UTSW |
7 |
35,311,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Ankrd27
|
UTSW |
7 |
35,327,952 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7027:Ankrd27
|
UTSW |
7 |
35,311,951 (GRCm39) |
missense |
probably benign |
0.00 |
R7177:Ankrd27
|
UTSW |
7 |
35,318,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Ankrd27
|
UTSW |
7 |
35,327,871 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7289:Ankrd27
|
UTSW |
7 |
35,330,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R7933:Ankrd27
|
UTSW |
7 |
35,301,074 (GRCm39) |
splice site |
probably benign |
|
R8198:Ankrd27
|
UTSW |
7 |
35,307,880 (GRCm39) |
missense |
probably benign |
0.01 |
R8214:Ankrd27
|
UTSW |
7 |
35,313,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R8327:Ankrd27
|
UTSW |
7 |
35,300,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R8461:Ankrd27
|
UTSW |
7 |
35,326,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R8508:Ankrd27
|
UTSW |
7 |
35,301,051 (GRCm39) |
nonsense |
probably null |
|
R8676:Ankrd27
|
UTSW |
7 |
35,302,009 (GRCm39) |
critical splice donor site |
probably null |
|
R8901:Ankrd27
|
UTSW |
7 |
35,332,243 (GRCm39) |
intron |
probably benign |
|
R9276:Ankrd27
|
UTSW |
7 |
35,319,995 (GRCm39) |
missense |
probably benign |
0.01 |
R9286:Ankrd27
|
UTSW |
7 |
35,326,869 (GRCm39) |
missense |
probably benign |
0.05 |
R9400:Ankrd27
|
UTSW |
7 |
35,316,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9624:Ankrd27
|
UTSW |
7 |
35,301,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9786:Ankrd27
|
UTSW |
7 |
35,291,294 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1177:Ankrd27
|
UTSW |
7 |
35,303,303 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTTTCTCACCTAGCATGG -3'
(R):5'- ATCACATACCAATGTTTCAATCACT -3'
Sequencing Primer
(F):5'- CTCACCTAGCATGGGGGTTG -3'
(R):5'- CTATAACACAGAACATAACACTGGTC -3'
|
Posted On |
2020-01-23 |