Incidental Mutation 'R5458:Ankrd27'
| ID |
432877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd27
|
| Ensembl Gene |
ENSMUSG00000034867 |
| Gene Name |
ankyrin repeat domain 27 |
| Synonyms |
Varp, D330003H11Rik |
| MMRRC Submission |
043021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5458 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35291236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 11
(N11D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000186245]
[ENSMUST00000188906]
[ENSMUST00000190503]
[ENSMUST00000206157]
[ENSMUST00000206472]
|
| AlphaFold |
Q3UMR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040844
AA Change: N11D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: N11D
| 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 |
probably damaging
Transcript: ENSMUST00000186245
AA Change: N11D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: N11D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
1e-8 |
BLAST |
|
VPS9
|
264 |
377 |
2.19e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188906
AA Change: N11D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139753
Gene: ENSMUSG00000034867
AA Change: N11D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
4e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190503
AA Change: N11D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: N11D
| 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 damaging
Transcript: ENSMUST00000206157
AA Change: N11D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206472
AA Change: N11D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4169 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
A |
G |
6: 125,027,013 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,282,662 (GRCm39) |
D589G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,236,049 (GRCm39) |
L208Q |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,325,636 (GRCm39) |
R512K |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,781,538 (GRCm39) |
S2197P |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,086,436 (GRCm39) |
V230A |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,291,924 (GRCm39) |
Y709* |
probably null |
Het |
| Atp8b2 |
T |
C |
3: 89,853,329 (GRCm39) |
N748D |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,187,346 (GRCm39) |
V684A |
probably damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bcr |
T |
C |
10: 74,990,792 (GRCm39) |
V766A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,408,111 (GRCm39) |
N1404S |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,508 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,958,811 (GRCm39) |
D621G |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,625,725 (GRCm39) |
S307P |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,103,155 (GRCm39) |
M1345T |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,168 (GRCm39) |
T2697S |
probably damaging |
Het |
| Ephb4 |
T |
C |
5: 137,368,114 (GRCm39) |
V753A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,466,090 (GRCm39) |
Y1427H |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,814,980 (GRCm39) |
Q445R |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,726 (GRCm39) |
S431G |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,395 (GRCm39) |
R189S |
probably benign |
Het |
| Gnas |
A |
G |
2: 174,140,124 (GRCm39) |
I98V |
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,242,910 (GRCm39) |
N1086D |
possibly damaging |
Het |
| Lclat1 |
T |
C |
17: 73,546,914 (GRCm39) |
L277P |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,250,361 (GRCm39) |
I76T |
probably damaging |
Het |
| Nkpd1 |
C |
A |
7: 19,258,201 (GRCm39) |
A510E |
probably damaging |
Het |
| Nlgn2 |
G |
T |
11: 69,718,726 (GRCm39) |
Q285K |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pax5 |
T |
C |
4: 44,679,526 (GRCm39) |
D172G |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,340,611 (GRCm39) |
V1115D |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,016,230 (GRCm39) |
S964G |
probably benign |
Het |
| Phip |
G |
T |
9: 82,808,553 (GRCm39) |
P474Q |
probably benign |
Het |
| Pop5 |
C |
T |
5: 115,378,496 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
A |
T |
6: 146,913,933 (GRCm39) |
|
probably benign |
Het |
| Rdh11 |
C |
T |
12: 79,235,279 (GRCm39) |
A106T |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,339,975 (GRCm39) |
T642A |
probably damaging |
Het |
| Scmh1 |
C |
T |
4: 120,362,478 (GRCm39) |
|
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,377 (GRCm39) |
H80R |
possibly damaging |
Het |
| Spata16 |
A |
T |
3: 26,831,686 (GRCm39) |
N265I |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,818,446 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,663,476 (GRCm39) |
T135A |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,796,389 (GRCm39) |
V381A |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,237,496 (GRCm39) |
I184K |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,116,889 (GRCm39) |
V62M |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,448,919 (GRCm39) |
V225A |
probably damaging |
Het |
| Wdr95 |
C |
T |
5: 149,487,879 (GRCm39) |
P171L |
probably damaging |
Het |
| Wsb1 |
T |
C |
11: 79,139,262 (GRCm39) |
T75A |
probably 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 |
|
|
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 |
|
|
R8011:Ankrd27
|
UTSW |
7 |
35,316,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CATGCATGGATTTGTGGGTCAC -3'
(R):5'- GGTTCGTTTAACTCCACAGCTC -3'
Sequencing Primer
(F):5'- CCAGCTATGCCAGTTAAGGTG -3'
(R):5'- ACAGCTCTGCAACTGACTTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation