Incidental Mutation 'R1394:Ankrd27'
| ID |
162748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd27
|
| Ensembl Gene |
ENSMUSG00000034867 |
| Gene Name |
ankyrin repeat domain 27 |
| Synonyms |
Varp, D330003H11Rik |
| MMRRC Submission |
039456-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1394 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35315294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 481
(F481S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000190503]
[ENSMUST00000206472]
[ENSMUST00000206632]
|
| AlphaFold |
Q3UMR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040844
AA Change: F481S
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: F481S
| 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 |
noncoding transcript
Transcript: ENSMUST00000187567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187807
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190503
AA Change: F481S
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: F481S
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,249,362 (GRCm39) |
Y122H |
probably damaging |
Het |
| Casd1 |
T |
G |
6: 4,624,117 (GRCm39) |
C303W |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,754 (GRCm39) |
R438Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,991,992 (GRCm39) |
T1957A |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,373,391 (GRCm39) |
S1224P |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
G |
A |
2: 77,759,823 (GRCm39) |
R75C |
possibly damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,328,089 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,936,099 (GRCm39) |
D3298G |
possibly damaging |
Het |
| Drc3 |
T |
C |
11: 60,284,545 (GRCm39) |
I450T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
| Fkbp15 |
T |
A |
4: 62,246,109 (GRCm39) |
M440L |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
| Ipp |
T |
A |
4: 116,395,109 (GRCm39) |
L548* |
probably null |
Het |
| Itm2a |
C |
T |
X: 106,441,807 (GRCm39) |
V200I |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,405,528 (GRCm39) |
N1182S |
probably damaging |
Het |
| Mkks |
C |
T |
2: 136,722,882 (GRCm39) |
G92S |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,334,474 (GRCm39) |
P243L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
| Pcdh12 |
A |
G |
18: 38,414,242 (GRCm39) |
|
probably null |
Het |
| Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,603,662 (GRCm39) |
C109* |
probably null |
Het |
| Prickle2 |
T |
A |
6: 92,353,363 (GRCm39) |
H701L |
possibly damaging |
Het |
| Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
| Psg19 |
T |
C |
7: 18,530,983 (GRCm39) |
N57S |
probably damaging |
Het |
| Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
| Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,476,827 (GRCm39) |
K766M |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,298,517 (GRCm39) |
Y179H |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,143,357 (GRCm39) |
T673A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,435 (GRCm39) |
M1508L |
probably benign |
Het |
| Vasn |
C |
T |
16: 4,467,576 (GRCm39) |
R508* |
probably null |
Het |
| Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
| Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
| Zfand1 |
G |
T |
3: 10,411,269 (GRCm39) |
T62K |
probably benign |
Het |
| Zfy1 |
C |
T |
Y: 725,957 (GRCm39) |
V603I |
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 |
|
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 |
|
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'- ATGCTACCTCACAGGCTGGAAGAG -3'
(R):5'- TGCATGGTACAGCCATGAAGCCAC -3'
Sequencing Primer
(F):5'- gccatctcagcagcccc -3'
(R):5'- TGAAGCCACCATGCAATGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation