Incidental Mutation 'R8327:Ankrd27'
| ID |
644154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd27
|
| Ensembl Gene |
ENSMUSG00000034867 |
| Gene Name |
ankyrin repeat domain 27 |
| Synonyms |
Varp, D330003H11Rik |
| MMRRC Submission |
067858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35300985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 95
(L95P)
|
| 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: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: L95P
| 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: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: L95P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
1e-8 |
BLAST |
|
VPS9
|
264 |
377 |
2.19e-6 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000139753
Gene: ENSMUSG00000034867
AA Change: L58P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
4e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190503
AA Change: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: L95P
| 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 |
noncoding transcript
Transcript: ENSMUST00000205801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206157
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206472
AA Change: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8798 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,331,685 (GRCm39) |
D843V |
possibly damaging |
Het |
| 6330409D20Rik |
T |
A |
2: 32,627,623 (GRCm39) |
Q111L |
unknown |
Het |
| Abcc5 |
C |
A |
16: 20,241,068 (GRCm39) |
R39L |
probably benign |
Het |
| Acbd3 |
C |
A |
1: 180,566,158 (GRCm39) |
Q284K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Apc2 |
T |
G |
10: 80,137,764 (GRCm39) |
D68E |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,015 (GRCm39) |
I1093F |
possibly damaging |
Het |
| Arid2 |
T |
A |
15: 96,260,485 (GRCm39) |
D411E |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,436,850 (GRCm39) |
Y811N |
probably damaging |
Het |
| Calhm5 |
A |
C |
10: 33,972,064 (GRCm39) |
F124V |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,630 (GRCm39) |
H616R |
probably benign |
Het |
| Ccdc198 |
C |
T |
14: 49,470,356 (GRCm39) |
G197S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,627,762 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Dagla |
C |
T |
19: 10,228,451 (GRCm39) |
V656I |
probably benign |
Het |
| Dguok |
A |
C |
6: 83,464,061 (GRCm39) |
W166G |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,196,388 (GRCm39) |
A1603V |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,039,984 (GRCm39) |
Q138* |
probably null |
Het |
| Fbxl19 |
T |
A |
7: 127,347,520 (GRCm39) |
C25* |
probably null |
Het |
| Gm49383 |
C |
A |
12: 69,243,643 (GRCm39) |
E79* |
probably null |
Het |
| Lcor |
C |
T |
19: 41,570,996 (GRCm39) |
S63L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,322,268 (GRCm39) |
Y1887C |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,232,062 (GRCm39) |
D1305G |
probably damaging |
Het |
| Mreg |
C |
A |
1: 72,203,257 (GRCm39) |
R107L |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,981,470 (GRCm39) |
S521T |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,059 (GRCm39) |
V437L |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,392,942 (GRCm39) |
M153V |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,558,926 (GRCm39) |
I40N |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,186 (GRCm39) |
E311G |
possibly damaging |
Het |
| Pcdhb5 |
A |
C |
18: 37,453,953 (GRCm39) |
K111T |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,906,192 (GRCm39) |
I580V |
probably benign |
Het |
| Plaat3 |
T |
C |
19: 7,556,514 (GRCm39) |
L105P |
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,761,646 (GRCm39) |
S841P |
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,975,566 (GRCm39) |
N31S |
probably damaging |
Het |
| Scmh1 |
C |
T |
4: 120,379,699 (GRCm39) |
H505Y |
probably benign |
Het |
| Setd1a |
T |
A |
7: 127,390,669 (GRCm39) |
L1115H |
unknown |
Het |
| Slc26a3 |
A |
G |
12: 31,516,430 (GRCm39) |
D596G |
possibly damaging |
Het |
| Smg5 |
G |
T |
3: 88,252,714 (GRCm39) |
A167S |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,277,004 (GRCm39) |
T255A |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,899,731 (GRCm39) |
A568T |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,836,311 (GRCm39) |
P740T |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,680 (GRCm39) |
L353P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,704,343 (GRCm39) |
E242G |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,680 (GRCm39) |
T189S |
probably benign |
Het |
| Zfp638 |
T |
G |
6: 83,905,679 (GRCm39) |
L44W |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,947,482 (GRCm39) |
T826I |
possibly damaging |
Het |
| Zfp865 |
G |
A |
7: 5,034,058 (GRCm39) |
S681N |
probably benign |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
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 |
|
|
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 |
|
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'- GCCTGGCACGTAACTATCAC -3'
(R):5'- TTCAAGCATTTAACAGCTGGG -3'
Sequencing Primer
(F):5'- TCCTAGTCACATGTCCAGCTAAC -3'
(R):5'- CTCCTCTCCAAAGGATGA -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation