Incidental Mutation 'R6721:Ankrd27'
| ID |
529585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd27
|
| Ensembl Gene |
ENSMUSG00000034867 |
| Gene Name |
ankyrin repeat domain 27 |
| Synonyms |
Varp, D330003H11Rik |
| MMRRC Submission |
044839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6721 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35311976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 402
(F402S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000186245]
[ENSMUST00000190503]
[ENSMUST00000206472]
|
| AlphaFold |
Q3UMR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040844
AA Change: F402S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: F402S
| 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 |
noncoding transcript
Transcript: ENSMUST00000187567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187807
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190503
AA Change: F402S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: F402S
| 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
|
| Meta Mutation Damage Score |
0.3028 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
| Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
| Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
| Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
| Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
| Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
| Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
| Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
| Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
| Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
| Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
| Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
| Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
| Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
| U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
| Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
probably benign |
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 |
|
|
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'- GGATCTGCACTTCAGCTCAGAG -3'
(R):5'- TGTGTGCTGTACAGTGGTAACC -3'
Sequencing Primer
(F):5'- CTCAGAGAGCAGACCTGGGTG -3'
(R):5'- TAGTCTTGCGACCACTCT -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation