Incidental Mutation 'R1456:Ankar'
ID |
161752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
039511-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1456 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72704277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 664
(Y664N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
AlphaFold |
A2RT91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053499
AA Change: Y882N
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: Y882N
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
51 |
N/A |
INTRINSIC |
low complexity region
|
484 |
496 |
N/A |
INTRINSIC |
ANK
|
532 |
561 |
1.25e2 |
SMART |
ANK
|
582 |
611 |
3.49e0 |
SMART |
ANK
|
615 |
644 |
4.44e2 |
SMART |
ANK
|
651 |
680 |
3.8e-1 |
SMART |
ANK
|
684 |
714 |
9.87e0 |
SMART |
ARM
|
744 |
784 |
5.96e-3 |
SMART |
ARM
|
785 |
825 |
4.09e0 |
SMART |
Blast:ARM
|
827 |
865 |
1e-15 |
BLAST |
ARM
|
867 |
907 |
8.34e0 |
SMART |
ARM
|
909 |
949 |
8.34e0 |
SMART |
Blast:ARM
|
951 |
991 |
2e-13 |
BLAST |
ARM
|
1034 |
1077 |
4.82e1 |
SMART |
ARM
|
1084 |
1123 |
1.3e1 |
SMART |
ARM
|
1257 |
1297 |
6.01e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211837
AA Change: Y881N
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: Y664N
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.1353 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.9%
|
Validation Efficiency |
98% (90/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
C |
T |
2: 19,485,731 (GRCm39) |
|
probably null |
Het |
4932414N04Rik |
A |
T |
2: 68,546,558 (GRCm39) |
E80V |
possibly damaging |
Het |
Alkbh3 |
A |
G |
2: 93,831,764 (GRCm39) |
|
probably null |
Het |
Arhgap18 |
T |
C |
10: 26,792,436 (GRCm39) |
I629T |
probably benign |
Het |
Arhgef28 |
C |
T |
13: 98,211,510 (GRCm39) |
E158K |
probably benign |
Het |
Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,916,285 (GRCm39) |
I427V |
probably benign |
Het |
Camk4 |
A |
G |
18: 33,262,896 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,283,481 (GRCm39) |
D16E |
possibly damaging |
Het |
Cct6b |
G |
T |
11: 82,644,446 (GRCm39) |
|
probably benign |
Het |
Ccz1 |
A |
G |
5: 143,947,836 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,322,899 (GRCm39) |
N335S |
possibly damaging |
Het |
Cemip |
T |
A |
7: 83,647,718 (GRCm39) |
S121C |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,783,838 (GRCm39) |
E262G |
probably damaging |
Het |
Clec11a |
G |
T |
7: 43,955,874 (GRCm39) |
P58T |
possibly damaging |
Het |
Clec16a |
T |
C |
16: 10,509,419 (GRCm39) |
I797T |
probably damaging |
Het |
Col4a1 |
A |
C |
8: 11,292,829 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
G |
A |
1: 152,360,655 (GRCm39) |
V231I |
probably damaging |
Het |
D430041D05Rik |
G |
T |
2: 104,038,428 (GRCm39) |
N1580K |
probably damaging |
Het |
Dcdc5 |
A |
G |
2: 106,181,910 (GRCm39) |
|
noncoding transcript |
Het |
Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
Dhx9 |
A |
T |
1: 153,341,441 (GRCm39) |
D601E |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,646,853 (GRCm39) |
Y1059H |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,848,569 (GRCm39) |
|
probably benign |
Het |
Egfr |
A |
G |
11: 16,813,065 (GRCm39) |
S182G |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,163,116 (GRCm39) |
N131S |
probably benign |
Het |
Fam243 |
T |
A |
16: 92,117,553 (GRCm39) |
Y245F |
probably damaging |
Het |
Fancm |
C |
T |
12: 65,165,125 (GRCm39) |
A1490V |
possibly damaging |
Het |
Fsd2 |
C |
A |
7: 81,209,339 (GRCm39) |
E168* |
probably null |
Het |
Galnt2l |
T |
C |
8: 123,568,687 (GRCm39) |
|
probably benign |
Het |
Gm9772 |
A |
T |
17: 22,226,099 (GRCm39) |
C62S |
probably damaging |
Het |
H60c |
C |
T |
10: 3,210,307 (GRCm39) |
A81T |
possibly damaging |
Het |
Hira |
T |
G |
16: 18,744,413 (GRCm39) |
S377A |
probably benign |
Het |
Iffo1 |
T |
C |
6: 125,122,877 (GRCm39) |
S220P |
possibly damaging |
Het |
Itih4 |
A |
G |
14: 30,614,610 (GRCm39) |
M491V |
probably benign |
Het |
Khdrbs2 |
T |
C |
1: 32,559,777 (GRCm39) |
R102G |
possibly damaging |
Het |
Klhdc7a |
T |
G |
4: 139,692,835 (GRCm39) |
Y704S |
possibly damaging |
Het |
Klk1b21 |
G |
A |
7: 43,754,923 (GRCm39) |
V73I |
probably benign |
Het |
Krt42 |
G |
A |
11: 100,160,435 (GRCm39) |
A88V |
probably benign |
Het |
Krt42 |
C |
T |
11: 100,160,436 (GRCm39) |
A88T |
probably benign |
Het |
Limk1 |
G |
T |
5: 134,686,364 (GRCm39) |
D580E |
probably benign |
Het |
Lipk |
C |
T |
19: 34,024,185 (GRCm39) |
P323S |
probably damaging |
Het |
Lipo5 |
T |
A |
19: 33,443,273 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,736,325 (GRCm39) |
D166G |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,125,923 (GRCm39) |
N439K |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,803,626 (GRCm39) |
R32W |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,779,550 (GRCm39) |
|
probably benign |
Het |
Mrgprb1 |
A |
T |
7: 48,097,777 (GRCm39) |
M45K |
probably damaging |
Het |
Mroh7 |
G |
A |
4: 106,552,338 (GRCm39) |
|
probably benign |
Het |
Mrpl27 |
G |
A |
11: 94,544,659 (GRCm39) |
|
probably benign |
Het |
Ms4a10 |
T |
A |
19: 10,942,097 (GRCm39) |
T175S |
possibly damaging |
Het |
Muc17 |
T |
C |
5: 137,166,799 (GRCm39) |
H330R |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,399,028 (GRCm39) |
I2787F |
probably damaging |
Het |
Ndst1 |
A |
G |
18: 60,846,277 (GRCm39) |
C11R |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,464,300 (GRCm39) |
G1669* |
probably null |
Het |
Or5p56 |
A |
G |
7: 107,589,605 (GRCm39) |
E11G |
probably benign |
Het |
Or6c208 |
A |
T |
10: 129,223,652 (GRCm39) |
D50V |
probably damaging |
Het |
Or7e177 |
T |
C |
9: 20,212,134 (GRCm39) |
Y214H |
probably benign |
Het |
Pafah2 |
T |
A |
4: 134,131,468 (GRCm39) |
I52N |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 65,693,283 (GRCm39) |
I693F |
possibly damaging |
Het |
Pde4c |
G |
T |
8: 71,199,262 (GRCm39) |
R228L |
probably benign |
Het |
Pdzd8 |
T |
C |
19: 59,288,904 (GRCm39) |
N832S |
probably benign |
Het |
Plbd1 |
T |
A |
6: 136,590,814 (GRCm39) |
M451L |
probably benign |
Het |
Pramel14 |
G |
T |
4: 143,719,851 (GRCm39) |
D171E |
probably benign |
Het |
Prom1 |
T |
C |
5: 44,194,965 (GRCm39) |
D260G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,216,310 (GRCm39) |
S813P |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,520,544 (GRCm39) |
I119V |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,365,967 (GRCm39) |
T353A |
probably damaging |
Het |
Shq1 |
A |
T |
6: 100,646,659 (GRCm39) |
|
probably null |
Het |
Slc22a28 |
T |
A |
19: 8,049,223 (GRCm39) |
H342L |
possibly damaging |
Het |
Slco2b1 |
C |
T |
7: 99,314,114 (GRCm39) |
E9K |
probably null |
Het |
Specc1l |
T |
C |
10: 75,082,118 (GRCm39) |
F505L |
probably damaging |
Het |
Sptan1 |
G |
T |
2: 29,870,215 (GRCm39) |
|
probably null |
Het |
St6gal2 |
A |
G |
17: 55,797,932 (GRCm39) |
|
probably benign |
Het |
Taok2 |
T |
C |
7: 126,479,313 (GRCm39) |
I73V |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,721,229 (GRCm39) |
T478I |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,744,542 (GRCm39) |
N361K |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,296,907 (GRCm39) |
Y429* |
probably null |
Het |
Tprkb |
A |
T |
6: 85,901,403 (GRCm39) |
R14W |
probably damaging |
Het |
Trio |
A |
T |
15: 27,753,890 (GRCm39) |
|
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,316,902 (GRCm39) |
|
probably benign |
Het |
Vmn1r211 |
T |
C |
13: 23,036,415 (GRCm39) |
Y84C |
probably damaging |
Het |
Vmn2r22 |
C |
G |
6: 123,614,624 (GRCm39) |
G322A |
possibly damaging |
Het |
Wdr74 |
A |
G |
19: 8,717,776 (GRCm39) |
Q330R |
probably benign |
Het |
Wdtc1 |
C |
A |
4: 133,024,739 (GRCm39) |
S486I |
possibly damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,989 (GRCm39) |
V673A |
possibly damaging |
Het |
Zfpm2 |
A |
T |
15: 40,965,877 (GRCm39) |
R655S |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,157,798 (GRCm39) |
N694D |
probably benign |
Het |
|
Other mutations in Ankar |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00338:Ankar
|
APN |
1 |
72,729,290 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01013:Ankar
|
APN |
1 |
72,690,148 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01135:Ankar
|
APN |
1 |
72,704,378 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01824:Ankar
|
APN |
1 |
72,690,886 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01885:Ankar
|
APN |
1 |
72,697,862 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01932:Ankar
|
APN |
1 |
72,738,146 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02143:Ankar
|
APN |
1 |
72,697,808 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02326:Ankar
|
APN |
1 |
72,705,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02445:Ankar
|
APN |
1 |
72,705,524 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02606:Ankar
|
APN |
1 |
72,729,444 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02635:Ankar
|
APN |
1 |
72,691,590 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02680:Ankar
|
APN |
1 |
72,709,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02704:Ankar
|
APN |
1 |
72,691,502 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03086:Ankar
|
APN |
1 |
72,682,437 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03269:Ankar
|
APN |
1 |
72,704,360 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03368:Ankar
|
APN |
1 |
72,714,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R0050:Ankar
|
UTSW |
1 |
72,695,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R0050:Ankar
|
UTSW |
1 |
72,695,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R0488:Ankar
|
UTSW |
1 |
72,697,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Ankar
|
UTSW |
1 |
72,695,380 (GRCm39) |
splice site |
probably benign |
|
R1121:Ankar
|
UTSW |
1 |
72,690,822 (GRCm39) |
splice site |
probably null |
|
R1163:Ankar
|
UTSW |
1 |
72,727,864 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1300:Ankar
|
UTSW |
1 |
72,682,323 (GRCm39) |
missense |
probably benign |
0.00 |
R1309:Ankar
|
UTSW |
1 |
72,713,163 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1366:Ankar
|
UTSW |
1 |
72,737,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Ankar
|
UTSW |
1 |
72,682,450 (GRCm39) |
missense |
probably benign |
|
R1583:Ankar
|
UTSW |
1 |
72,718,714 (GRCm39) |
splice site |
probably benign |
|
R1635:Ankar
|
UTSW |
1 |
72,689,297 (GRCm39) |
missense |
probably damaging |
0.99 |
R1975:Ankar
|
UTSW |
1 |
72,697,600 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2036:Ankar
|
UTSW |
1 |
72,705,689 (GRCm39) |
nonsense |
probably null |
|
R2511:Ankar
|
UTSW |
1 |
72,697,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R2965:Ankar
|
UTSW |
1 |
72,714,979 (GRCm39) |
missense |
probably benign |
0.00 |
R3404:Ankar
|
UTSW |
1 |
72,682,252 (GRCm39) |
nonsense |
probably null |
|
R3417:Ankar
|
UTSW |
1 |
72,698,135 (GRCm39) |
critical splice donor site |
probably null |
|
R4072:Ankar
|
UTSW |
1 |
72,727,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4231:Ankar
|
UTSW |
1 |
72,697,701 (GRCm39) |
missense |
probably benign |
0.23 |
R4447:Ankar
|
UTSW |
1 |
72,726,948 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4632:Ankar
|
UTSW |
1 |
72,686,343 (GRCm39) |
missense |
probably benign |
0.01 |
R4720:Ankar
|
UTSW |
1 |
72,738,170 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4754:Ankar
|
UTSW |
1 |
72,737,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R4884:Ankar
|
UTSW |
1 |
72,737,966 (GRCm39) |
missense |
probably damaging |
0.97 |
R5068:Ankar
|
UTSW |
1 |
72,719,369 (GRCm39) |
splice site |
probably null |
|
R5069:Ankar
|
UTSW |
1 |
72,719,369 (GRCm39) |
splice site |
probably null |
|
R5070:Ankar
|
UTSW |
1 |
72,719,369 (GRCm39) |
splice site |
probably null |
|
R5189:Ankar
|
UTSW |
1 |
72,697,573 (GRCm39) |
missense |
probably benign |
0.01 |
R5247:Ankar
|
UTSW |
1 |
72,719,343 (GRCm39) |
missense |
probably benign |
0.08 |
R5322:Ankar
|
UTSW |
1 |
72,729,545 (GRCm39) |
splice site |
probably null |
|
R5345:Ankar
|
UTSW |
1 |
72,709,310 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5864:Ankar
|
UTSW |
1 |
72,698,324 (GRCm39) |
missense |
probably benign |
0.00 |
R5976:Ankar
|
UTSW |
1 |
72,682,450 (GRCm39) |
missense |
probably benign |
|
R6003:Ankar
|
UTSW |
1 |
72,738,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R6042:Ankar
|
UTSW |
1 |
72,713,213 (GRCm39) |
nonsense |
probably null |
|
R6296:Ankar
|
UTSW |
1 |
72,682,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Ankar
|
UTSW |
1 |
72,720,967 (GRCm39) |
critical splice donor site |
probably null |
|
R6885:Ankar
|
UTSW |
1 |
72,682,195 (GRCm39) |
missense |
unknown |
|
R6985:Ankar
|
UTSW |
1 |
72,697,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R7060:Ankar
|
UTSW |
1 |
72,695,272 (GRCm39) |
missense |
probably benign |
0.18 |
R7099:Ankar
|
UTSW |
1 |
72,682,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R7194:Ankar
|
UTSW |
1 |
72,698,192 (GRCm39) |
missense |
probably benign |
0.32 |
R7221:Ankar
|
UTSW |
1 |
72,689,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R7222:Ankar
|
UTSW |
1 |
72,705,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R7258:Ankar
|
UTSW |
1 |
72,690,886 (GRCm39) |
missense |
probably benign |
0.40 |
R7303:Ankar
|
UTSW |
1 |
72,698,192 (GRCm39) |
missense |
probably benign |
0.32 |
R7308:Ankar
|
UTSW |
1 |
72,690,953 (GRCm39) |
nonsense |
probably null |
|
R7384:Ankar
|
UTSW |
1 |
72,697,624 (GRCm39) |
missense |
probably benign |
0.00 |
R7424:Ankar
|
UTSW |
1 |
72,719,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Ankar
|
UTSW |
1 |
72,738,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7525:Ankar
|
UTSW |
1 |
72,727,800 (GRCm39) |
missense |
probably benign |
0.18 |
R7618:Ankar
|
UTSW |
1 |
72,714,925 (GRCm39) |
missense |
probably benign |
0.22 |
R7659:Ankar
|
UTSW |
1 |
72,729,294 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7974:Ankar
|
UTSW |
1 |
72,738,138 (GRCm39) |
nonsense |
probably null |
|
R8008:Ankar
|
UTSW |
1 |
72,705,643 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8119:Ankar
|
UTSW |
1 |
72,686,160 (GRCm39) |
missense |
probably damaging |
0.98 |
R8244:Ankar
|
UTSW |
1 |
72,690,183 (GRCm39) |
missense |
probably benign |
|
R8342:Ankar
|
UTSW |
1 |
72,691,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R8494:Ankar
|
UTSW |
1 |
72,697,953 (GRCm39) |
missense |
probably benign |
0.16 |
R8851:Ankar
|
UTSW |
1 |
72,691,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Ankar
|
UTSW |
1 |
72,691,496 (GRCm39) |
critical splice donor site |
probably null |
|
R9228:Ankar
|
UTSW |
1 |
72,713,210 (GRCm39) |
missense |
probably benign |
0.27 |
R9511:Ankar
|
UTSW |
1 |
72,719,161 (GRCm39) |
missense |
probably benign |
0.23 |
R9577:Ankar
|
UTSW |
1 |
72,721,067 (GRCm39) |
missense |
probably benign |
0.02 |
R9612:Ankar
|
UTSW |
1 |
72,704,294 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9647:Ankar
|
UTSW |
1 |
72,689,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R9803:Ankar
|
UTSW |
1 |
72,698,340 (GRCm39) |
missense |
possibly damaging |
0.47 |
Z1176:Ankar
|
UTSW |
1 |
72,729,120 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACTTTAGAAGCAGGGACCTGATGA -3'
(R):5'- TGATTCTGGCAATTAGCCAAAGCTATGA -3'
Sequencing Primer
(F):5'- GAGTCAGTTATTTCTCTGAACCTTG -3'
(R):5'- GCCAAAGCTATGATAAGTGCTCTG -3'
|
Posted On |
2014-03-14 |