Incidental Mutation 'R5182:Ankrd27'
| ID |
397612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd27
|
| Ensembl Gene |
ENSMUSG00000034867 |
| Gene Name |
ankyrin repeat domain 27 |
| Synonyms |
Varp, D330003H11Rik |
| MMRRC Submission |
042853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5182 (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 35327912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 811
(T811A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000190503]
[ENSMUST00000206472]
[ENSMUST00000206632]
|
| AlphaFold |
Q3UMR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040844
AA Change: T811A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: T811A
| 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: ENSMUST00000187807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190503
AA Change: T756A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: T756A
| 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 |
0.7568 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
A |
G |
19: 21,608,129 (GRCm39) |
M1T |
probably null |
Het |
| Abcg8 |
T |
C |
17: 85,000,172 (GRCm39) |
L243P |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,503,919 (GRCm39) |
N188S |
probably null |
Het |
| Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,733,854 (GRCm39) |
L3013R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,776 (GRCm39) |
I533T |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,734,531 (GRCm39) |
E2637* |
probably null |
Het |
| Coq5 |
G |
A |
5: 115,417,815 (GRCm39) |
R15H |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,311,424 (GRCm39) |
I1801S |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,417,370 (GRCm39) |
E34G |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,218,167 (GRCm39) |
Q1536K |
probably benign |
Het |
| Eeig2 |
T |
C |
3: 108,892,667 (GRCm39) |
K173E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,562,971 (GRCm39) |
|
probably null |
Het |
| Fignl1 |
A |
T |
11: 11,751,717 (GRCm39) |
I446N |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,784,032 (GRCm39) |
C845* |
probably null |
Het |
| Gfm2 |
T |
C |
13: 97,299,401 (GRCm39) |
V347A |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,168,053 (GRCm39) |
|
probably null |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,653 (GRCm39) |
V299F |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,450 (GRCm39) |
R3229S |
unknown |
Het |
| Icam5 |
A |
G |
9: 20,946,106 (GRCm39) |
T313A |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,424,958 (GRCm39) |
D668V |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,365,066 (GRCm39) |
C322* |
probably null |
Het |
| Klk6 |
A |
G |
7: 43,478,084 (GRCm39) |
K152R |
probably benign |
Het |
| Man1a2 |
A |
C |
3: 100,554,333 (GRCm39) |
I250S |
probably damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,257,181 (GRCm39) |
Y170C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,629,801 (GRCm39) |
|
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,005 (GRCm39) |
M288T |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,176 (GRCm39) |
D104E |
probably benign |
Het |
| Pax4 |
C |
T |
6: 28,444,368 (GRCm39) |
E229K |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,105 (GRCm39) |
I196T |
possibly damaging |
Het |
| Pld1 |
T |
C |
3: 28,099,230 (GRCm39) |
I299T |
probably damaging |
Het |
| Pnma1 |
T |
C |
12: 84,193,819 (GRCm39) |
I295V |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,370,485 (GRCm39) |
L28P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,174 (GRCm38) |
T632A |
probably benign |
Het |
| Rab43 |
A |
G |
6: 87,771,637 (GRCm39) |
*118R |
probably null |
Het |
| Rabep1 |
C |
T |
11: 70,795,454 (GRCm39) |
R227* |
probably null |
Het |
| Rad51c |
T |
G |
11: 87,288,545 (GRCm39) |
I213L |
possibly damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,169,287 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,585,495 (GRCm39) |
E2735G |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,548,995 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,457,652 (GRCm39) |
R242H |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,671,238 (GRCm39) |
T983M |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,626,506 (GRCm39) |
Y252H |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,887,877 (GRCm39) |
T482I |
probably benign |
Het |
| St7 |
A |
G |
6: 17,846,236 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tas2r140 |
A |
T |
6: 40,468,866 (GRCm39) |
Q232L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,222 (GRCm39) |
K270N |
probably damaging |
Het |
| Tiam2 |
G |
A |
17: 3,488,996 (GRCm39) |
G768D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,700,773 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
A |
C |
4: 149,465,699 (GRCm39) |
S250R |
probably null |
Het |
| Ubxn2a |
G |
A |
12: 4,930,634 (GRCm39) |
A242V |
probably damaging |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,667 (GRCm39) |
L182P |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,632 (GRCm39) |
V616A |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,672,863 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,637 (GRCm39) |
T1315K |
possibly damaging |
Het |
| Zfp936 |
G |
A |
7: 42,839,331 (GRCm39) |
C266Y |
probably damaging |
Het |
| Zscan20 |
G |
T |
4: 128,480,504 (GRCm39) |
N662K |
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 |
|
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'- GAAAACCCTAGTGCCTGGTG -3'
(R):5'- ACATGGTATACATACATGCAGGC -3'
Sequencing Primer
(F):5'- ACAGATGAGAGTGCCCCC -3'
(R):5'- TGGTATACATACATGCAGGCAAAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation