Incidental Mutation 'R7933:Ankrd27'
ID |
651972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd27
|
Ensembl Gene |
ENSMUSG00000034867 |
Gene Name |
ankyrin repeat domain 27 |
Synonyms |
Varp, D330003H11Rik |
MMRRC Submission |
045979-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7933 (G1)
|
Quality Score |
999 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 35301074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000186245]
[ENSMUST00000188906]
[ENSMUST00000190503]
[ENSMUST00000206157]
[ENSMUST00000206472]
|
AlphaFold |
Q3UMR0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040844
|
SMART Domains |
Protein: ENSMUSP00000041751 Gene: ENSMUSG00000034867
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 benign
Transcript: ENSMUST00000186245
|
SMART Domains |
Protein: ENSMUSP00000140554 Gene: ENSMUSG00000034867
Domain | Start | End | E-Value | Type |
Blast:ANK
|
8 |
37 |
1e-8 |
BLAST |
VPS9
|
264 |
377 |
2.19e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188906
|
SMART Domains |
Protein: ENSMUSP00000139753 Gene: ENSMUSG00000034867
Domain | Start | End | E-Value | Type |
Blast:ANK
|
8 |
37 |
4e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190503
|
SMART Domains |
Protein: ENSMUSP00000140259 Gene: ENSMUSG00000034867
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: ENSMUST00000206157
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206472
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
A |
G |
11: 50,833,227 (GRCm39) |
V125A |
unknown |
Het |
Adam34 |
T |
A |
8: 44,103,911 (GRCm39) |
H578L |
probably damaging |
Het |
Agap2 |
C |
A |
10: 126,922,789 (GRCm39) |
|
probably benign |
Het |
Ago4 |
A |
T |
4: 126,400,811 (GRCm39) |
M678K |
probably benign |
Het |
Atosb |
A |
T |
4: 43,035,919 (GRCm39) |
C271S |
probably benign |
Het |
Atrn |
T |
C |
2: 130,836,986 (GRCm39) |
L1150P |
probably damaging |
Het |
Bbs1 |
T |
A |
19: 4,941,678 (GRCm39) |
|
probably benign |
Het |
Camta1 |
C |
T |
4: 151,168,214 (GRCm39) |
E279K |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
Col11a2 |
A |
T |
17: 34,275,029 (GRCm39) |
K400* |
probably null |
Het |
Cpsf4 |
T |
A |
5: 145,104,168 (GRCm39) |
M1K |
probably null |
Het |
Dnah12 |
A |
T |
14: 26,488,072 (GRCm39) |
Q992L |
probably benign |
Het |
Dnajc7 |
T |
C |
11: 100,487,038 (GRCm39) |
Y145C |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,810,279 (GRCm39) |
D892E |
possibly damaging |
Het |
Fam193a |
A |
G |
5: 34,623,539 (GRCm39) |
K23E |
possibly damaging |
Het |
Filip1 |
T |
G |
9: 79,727,329 (GRCm39) |
K430T |
possibly damaging |
Het |
Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
Hip1 |
A |
T |
5: 135,489,310 (GRCm39) |
N45K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,003,581 (GRCm39) |
S60P |
probably damaging |
Het |
Ighv1-53 |
A |
T |
12: 115,122,029 (GRCm39) |
C115* |
probably null |
Het |
Macf1 |
T |
C |
4: 123,303,444 (GRCm39) |
T353A |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,239,279 (GRCm39) |
V433E |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,909,071 (GRCm39) |
M660K |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,439,379 (GRCm39) |
Y380C |
probably damaging |
Het |
Or10g9b |
T |
C |
9: 39,918,431 (GRCm39) |
|
probably benign |
Het |
Or5b111 |
T |
A |
19: 13,291,569 (GRCm39) |
M27L |
probably benign |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Slc6a1 |
T |
A |
6: 114,288,859 (GRCm39) |
W473R |
probably damaging |
Het |
Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,891,565 (GRCm39) |
L85P |
probably damaging |
Het |
Sprr3 |
T |
C |
3: 92,364,515 (GRCm39) |
I110V |
possibly damaging |
Het |
Ston1 |
A |
G |
17: 88,943,572 (GRCm39) |
E326G |
probably benign |
Het |
Tapbpl |
T |
G |
6: 125,207,233 (GRCm39) |
Q152P |
probably damaging |
Het |
Tectb |
C |
T |
19: 55,183,105 (GRCm39) |
L319F |
possibly damaging |
Het |
Tpp2 |
G |
A |
1: 44,000,121 (GRCm39) |
G413D |
probably damaging |
Het |
Tpsg1 |
A |
G |
17: 25,592,178 (GRCm39) |
H84R |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,285,686 (GRCm39) |
N2437S |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,897,885 (GRCm39) |
Q1152R |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,467,224 (GRCm39) |
T92A |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,944,788 (GRCm39) |
V35A |
probably benign |
Het |
Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
Zfp169 |
A |
G |
13: 48,643,957 (GRCm39) |
V390A |
unknown |
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 |
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'- TGAGGTTTTCTTCATTCCAGGC -3'
(R):5'- GGGCTGGAGTCCTATCATATCC -3'
Sequencing Primer
(F):5'- CATTCCAGGCTGTCGTCATTGAAG -3'
(R):5'- AGCATTTAACAGCTGGGG -3'
|
Posted On |
2020-09-16 |