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 |
72642980-72700579 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72665118 bp (GRCm38)
|
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: 19,480,920 (GRCm38) |
|
probably null |
Het |
4932414N04Rik |
A |
T |
2: 68,716,214 (GRCm38) |
E80V |
possibly damaging |
Het |
Alkbh3 |
A |
G |
2: 94,001,419 (GRCm38) |
|
probably null |
Het |
Arhgap18 |
T |
C |
10: 26,916,440 (GRCm38) |
I629T |
probably benign |
Het |
Arhgef28 |
C |
T |
13: 98,075,002 (GRCm38) |
E158K |
probably benign |
Het |
Asxl2 |
C |
T |
12: 3,501,872 (GRCm38) |
H1205Y |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,609,290 (GRCm38) |
I427V |
probably benign |
Het |
Camk4 |
A |
G |
18: 33,129,843 (GRCm38) |
|
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,150,424 (GRCm38) |
D16E |
possibly damaging |
Het |
Cct6b |
G |
T |
11: 82,753,620 (GRCm38) |
|
probably benign |
Het |
Ccz1 |
A |
G |
5: 144,011,018 (GRCm38) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,487,120 (GRCm38) |
N335S |
possibly damaging |
Het |
Cemip |
T |
A |
7: 83,998,510 (GRCm38) |
S121C |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,331,188 (GRCm38) |
E262G |
probably damaging |
Het |
Clec11a |
G |
T |
7: 44,306,450 (GRCm38) |
P58T |
possibly damaging |
Het |
Clec16a |
T |
C |
16: 10,691,555 (GRCm38) |
I797T |
probably damaging |
Het |
Col4a1 |
A |
C |
8: 11,242,829 (GRCm38) |
|
probably benign |
Het |
Colgalt2 |
G |
A |
1: 152,484,904 (GRCm38) |
V231I |
probably damaging |
Het |
D430041D05Rik |
G |
T |
2: 104,208,083 (GRCm38) |
N1580K |
probably damaging |
Het |
Dcdc5 |
A |
G |
2: 106,351,565 (GRCm38) |
|
noncoding transcript |
Het |
Ddx17 |
T |
C |
15: 79,530,376 (GRCm38) |
D530G |
probably benign |
Het |
Dhx9 |
A |
T |
1: 153,465,695 (GRCm38) |
D601E |
probably benign |
Het |
Dnah3 |
A |
G |
7: 120,047,630 (GRCm38) |
Y1059H |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,710,504 (GRCm38) |
|
probably benign |
Het |
Egfr |
A |
G |
11: 16,863,065 (GRCm38) |
S182G |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,185,752 (GRCm38) |
N131S |
probably benign |
Het |
Fam243 |
T |
A |
16: 92,320,665 (GRCm38) |
Y245F |
probably damaging |
Het |
Fancm |
C |
T |
12: 65,118,351 (GRCm38) |
A1490V |
possibly damaging |
Het |
Fsd2 |
C |
A |
7: 81,559,591 (GRCm38) |
E168* |
probably null |
Het |
Galnt2l |
T |
C |
8: 122,841,948 (GRCm38) |
|
probably benign |
Het |
Gm9772 |
A |
T |
17: 22,007,118 (GRCm38) |
C62S |
probably damaging |
Het |
H60c |
C |
T |
10: 3,260,307 (GRCm38) |
A81T |
possibly damaging |
Het |
Hira |
T |
G |
16: 18,925,663 (GRCm38) |
S377A |
probably benign |
Het |
Iffo1 |
T |
C |
6: 125,145,914 (GRCm38) |
S220P |
possibly damaging |
Het |
Itih4 |
A |
G |
14: 30,892,653 (GRCm38) |
M491V |
probably benign |
Het |
Khdrbs2 |
T |
C |
1: 32,520,696 (GRCm38) |
R102G |
possibly damaging |
Het |
Klhdc7a |
T |
G |
4: 139,965,524 (GRCm38) |
Y704S |
possibly damaging |
Het |
Klk1b21 |
G |
A |
7: 44,105,499 (GRCm38) |
V73I |
probably benign |
Het |
Krt42 |
C |
T |
11: 100,269,610 (GRCm38) |
A88T |
probably benign |
Het |
Krt42 |
G |
A |
11: 100,269,609 (GRCm38) |
A88V |
probably benign |
Het |
Limk1 |
G |
T |
5: 134,657,510 (GRCm38) |
D580E |
probably benign |
Het |
Lipk |
C |
T |
19: 34,046,785 (GRCm38) |
P323S |
probably damaging |
Het |
Lipo5 |
T |
A |
19: 33,465,873 (GRCm38) |
|
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,845,499 (GRCm38) |
D166G |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 24,906,949 (GRCm38) |
N439K |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,973,145 (GRCm38) |
R32W |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,903,652 (GRCm38) |
|
probably benign |
Het |
Mrgprb1 |
A |
T |
7: 48,448,029 (GRCm38) |
M45K |
probably damaging |
Het |
Mroh7 |
G |
A |
4: 106,695,141 (GRCm38) |
|
probably benign |
Het |
Mrpl27 |
G |
A |
11: 94,653,833 (GRCm38) |
|
probably benign |
Het |
Ms4a10 |
T |
A |
19: 10,964,733 (GRCm38) |
T175S |
possibly damaging |
Het |
Muc17 |
T |
C |
5: 137,137,951 (GRCm38) |
H330R |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,508,202 (GRCm38) |
I2787F |
probably damaging |
Het |
Ndst1 |
A |
G |
18: 60,713,205 (GRCm38) |
C11R |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,487,656 (GRCm38) |
G1669* |
probably null |
Het |
Or5p56 |
A |
G |
7: 107,990,398 (GRCm38) |
E11G |
probably benign |
Het |
Or6c208 |
A |
T |
10: 129,387,783 (GRCm38) |
D50V |
probably damaging |
Het |
Or7e177 |
T |
C |
9: 20,300,838 (GRCm38) |
Y214H |
probably benign |
Het |
Pafah2 |
T |
A |
4: 134,404,157 (GRCm38) |
I52N |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 66,043,535 (GRCm38) |
I693F |
possibly damaging |
Het |
Pde4c |
G |
T |
8: 70,746,613 (GRCm38) |
R228L |
probably benign |
Het |
Pdzd8 |
T |
C |
19: 59,300,472 (GRCm38) |
N832S |
probably benign |
Het |
Plbd1 |
T |
A |
6: 136,613,816 (GRCm38) |
M451L |
probably benign |
Het |
Pramel14 |
G |
T |
4: 143,993,281 (GRCm38) |
D171E |
probably benign |
Het |
Prom1 |
T |
C |
5: 44,037,623 (GRCm38) |
D260G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,266,310 (GRCm38) |
S813P |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,691,478 (GRCm38) |
I119V |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,415,967 (GRCm38) |
T353A |
probably damaging |
Het |
Shq1 |
A |
T |
6: 100,669,698 (GRCm38) |
|
probably null |
Het |
Slc22a28 |
T |
A |
19: 8,071,858 (GRCm38) |
H342L |
possibly damaging |
Het |
Slco2b1 |
C |
T |
7: 99,664,907 (GRCm38) |
E9K |
probably null |
Het |
Specc1l |
T |
C |
10: 75,246,284 (GRCm38) |
F505L |
probably damaging |
Het |
Sptan1 |
G |
T |
2: 29,980,203 (GRCm38) |
|
probably null |
Het |
St6gal2 |
A |
G |
17: 55,490,931 (GRCm38) |
|
probably benign |
Het |
Taok2 |
T |
C |
7: 126,880,141 (GRCm38) |
I73V |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,744,244 (GRCm38) |
T478I |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,507,106 (GRCm38) |
N361K |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,647,483 (GRCm38) |
Y429* |
probably null |
Het |
Tprkb |
A |
T |
6: 85,924,421 (GRCm38) |
R14W |
probably damaging |
Het |
Trio |
A |
T |
15: 27,753,804 (GRCm38) |
|
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,667,154 (GRCm38) |
|
probably benign |
Het |
Vmn1r211 |
T |
C |
13: 22,852,245 (GRCm38) |
Y84C |
probably damaging |
Het |
Vmn2r22 |
C |
G |
6: 123,637,665 (GRCm38) |
G322A |
possibly damaging |
Het |
Wdr74 |
A |
G |
19: 8,740,412 (GRCm38) |
Q330R |
probably benign |
Het |
Wdtc1 |
C |
A |
4: 133,297,428 (GRCm38) |
S486I |
possibly damaging |
Het |
Zbtb24 |
T |
C |
10: 41,464,993 (GRCm38) |
V673A |
possibly damaging |
Het |
Zfpm2 |
A |
T |
15: 41,102,481 (GRCm38) |
R655S |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,220,988 (GRCm38) |
N694D |
probably benign |
Het |
|
Other mutations in Ankar |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00338:Ankar
|
APN |
1 |
72,690,131 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01013:Ankar
|
APN |
1 |
72,650,989 (GRCm38) |
missense |
possibly damaging |
0.90 |
IGL01135:Ankar
|
APN |
1 |
72,665,219 (GRCm38) |
missense |
probably benign |
0.28 |
IGL01824:Ankar
|
APN |
1 |
72,651,727 (GRCm38) |
missense |
probably benign |
0.40 |
IGL01885:Ankar
|
APN |
1 |
72,658,703 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01932:Ankar
|
APN |
1 |
72,698,987 (GRCm38) |
missense |
probably benign |
0.25 |
IGL02143:Ankar
|
APN |
1 |
72,658,649 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02326:Ankar
|
APN |
1 |
72,666,355 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02445:Ankar
|
APN |
1 |
72,666,365 (GRCm38) |
missense |
probably benign |
0.05 |
IGL02606:Ankar
|
APN |
1 |
72,690,285 (GRCm38) |
missense |
possibly damaging |
0.61 |
IGL02635:Ankar
|
APN |
1 |
72,652,431 (GRCm38) |
missense |
possibly damaging |
0.93 |
IGL02680:Ankar
|
APN |
1 |
72,670,116 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02704:Ankar
|
APN |
1 |
72,652,343 (GRCm38) |
missense |
possibly damaging |
0.88 |
IGL03086:Ankar
|
APN |
1 |
72,643,278 (GRCm38) |
missense |
possibly damaging |
0.84 |
IGL03269:Ankar
|
APN |
1 |
72,665,201 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL03368:Ankar
|
APN |
1 |
72,675,813 (GRCm38) |
missense |
probably damaging |
1.00 |
R0050:Ankar
|
UTSW |
1 |
72,656,164 (GRCm38) |
missense |
probably damaging |
1.00 |
R0050:Ankar
|
UTSW |
1 |
72,656,164 (GRCm38) |
missense |
probably damaging |
1.00 |
R0488:Ankar
|
UTSW |
1 |
72,658,732 (GRCm38) |
missense |
probably damaging |
1.00 |
R0650:Ankar
|
UTSW |
1 |
72,656,221 (GRCm38) |
splice site |
probably benign |
|
R1121:Ankar
|
UTSW |
1 |
72,651,663 (GRCm38) |
splice site |
probably null |
|
R1163:Ankar
|
UTSW |
1 |
72,688,705 (GRCm38) |
missense |
possibly damaging |
0.82 |
R1300:Ankar
|
UTSW |
1 |
72,643,164 (GRCm38) |
missense |
probably benign |
0.00 |
R1309:Ankar
|
UTSW |
1 |
72,674,004 (GRCm38) |
missense |
possibly damaging |
0.59 |
R1366:Ankar
|
UTSW |
1 |
72,698,649 (GRCm38) |
missense |
probably damaging |
1.00 |
R1495:Ankar
|
UTSW |
1 |
72,643,291 (GRCm38) |
missense |
probably benign |
|
R1583:Ankar
|
UTSW |
1 |
72,679,555 (GRCm38) |
splice site |
probably benign |
|
R1635:Ankar
|
UTSW |
1 |
72,650,138 (GRCm38) |
missense |
probably damaging |
0.99 |
R1975:Ankar
|
UTSW |
1 |
72,658,441 (GRCm38) |
missense |
possibly damaging |
0.95 |
R2036:Ankar
|
UTSW |
1 |
72,666,530 (GRCm38) |
nonsense |
probably null |
|
R2511:Ankar
|
UTSW |
1 |
72,658,694 (GRCm38) |
missense |
probably damaging |
1.00 |
R2965:Ankar
|
UTSW |
1 |
72,675,820 (GRCm38) |
missense |
probably benign |
0.00 |
R3404:Ankar
|
UTSW |
1 |
72,643,093 (GRCm38) |
nonsense |
probably null |
|
R3417:Ankar
|
UTSW |
1 |
72,658,976 (GRCm38) |
critical splice donor site |
probably null |
|
R4072:Ankar
|
UTSW |
1 |
72,688,592 (GRCm38) |
missense |
probably damaging |
1.00 |
R4231:Ankar
|
UTSW |
1 |
72,658,542 (GRCm38) |
missense |
probably benign |
0.23 |
R4447:Ankar
|
UTSW |
1 |
72,687,789 (GRCm38) |
missense |
possibly damaging |
0.60 |
R4632:Ankar
|
UTSW |
1 |
72,647,184 (GRCm38) |
missense |
probably benign |
0.01 |
R4720:Ankar
|
UTSW |
1 |
72,699,011 (GRCm38) |
missense |
possibly damaging |
0.55 |
R4754:Ankar
|
UTSW |
1 |
72,698,694 (GRCm38) |
missense |
probably damaging |
1.00 |
R4884:Ankar
|
UTSW |
1 |
72,698,807 (GRCm38) |
missense |
probably damaging |
0.97 |
R5068:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
R5069:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
R5070:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
R5189:Ankar
|
UTSW |
1 |
72,658,414 (GRCm38) |
missense |
probably benign |
0.01 |
R5247:Ankar
|
UTSW |
1 |
72,680,184 (GRCm38) |
missense |
probably benign |
0.08 |
R5322:Ankar
|
UTSW |
1 |
72,690,386 (GRCm38) |
splice site |
probably null |
|
R5345:Ankar
|
UTSW |
1 |
72,670,151 (GRCm38) |
missense |
possibly damaging |
0.94 |
R5864:Ankar
|
UTSW |
1 |
72,659,165 (GRCm38) |
missense |
probably benign |
0.00 |
R5976:Ankar
|
UTSW |
1 |
72,643,291 (GRCm38) |
missense |
probably benign |
|
R6003:Ankar
|
UTSW |
1 |
72,698,887 (GRCm38) |
missense |
probably damaging |
1.00 |
R6042:Ankar
|
UTSW |
1 |
72,674,054 (GRCm38) |
nonsense |
probably null |
|
R6296:Ankar
|
UTSW |
1 |
72,643,258 (GRCm38) |
missense |
probably damaging |
1.00 |
R6488:Ankar
|
UTSW |
1 |
72,681,808 (GRCm38) |
critical splice donor site |
probably null |
|
R6885:Ankar
|
UTSW |
1 |
72,643,036 (GRCm38) |
missense |
unknown |
|
R6985:Ankar
|
UTSW |
1 |
72,658,482 (GRCm38) |
missense |
probably damaging |
1.00 |
R7060:Ankar
|
UTSW |
1 |
72,656,113 (GRCm38) |
missense |
probably benign |
0.18 |
R7099:Ankar
|
UTSW |
1 |
72,643,293 (GRCm38) |
missense |
probably damaging |
0.99 |
R7194:Ankar
|
UTSW |
1 |
72,659,033 (GRCm38) |
missense |
probably benign |
0.32 |
R7221:Ankar
|
UTSW |
1 |
72,650,231 (GRCm38) |
missense |
probably damaging |
1.00 |
R7222:Ankar
|
UTSW |
1 |
72,666,355 (GRCm38) |
missense |
probably damaging |
0.99 |
R7258:Ankar
|
UTSW |
1 |
72,651,727 (GRCm38) |
missense |
probably benign |
0.40 |
R7303:Ankar
|
UTSW |
1 |
72,659,033 (GRCm38) |
missense |
probably benign |
0.32 |
R7308:Ankar
|
UTSW |
1 |
72,651,794 (GRCm38) |
nonsense |
probably null |
|
R7384:Ankar
|
UTSW |
1 |
72,658,465 (GRCm38) |
missense |
probably benign |
0.00 |
R7424:Ankar
|
UTSW |
1 |
72,680,058 (GRCm38) |
missense |
probably damaging |
1.00 |
R7464:Ankar
|
UTSW |
1 |
72,698,894 (GRCm38) |
missense |
possibly damaging |
0.94 |
R7525:Ankar
|
UTSW |
1 |
72,688,641 (GRCm38) |
missense |
probably benign |
0.18 |
R7618:Ankar
|
UTSW |
1 |
72,675,766 (GRCm38) |
missense |
probably benign |
0.22 |
R7659:Ankar
|
UTSW |
1 |
72,690,135 (GRCm38) |
missense |
possibly damaging |
0.95 |
R7974:Ankar
|
UTSW |
1 |
72,698,979 (GRCm38) |
nonsense |
probably null |
|
R8008:Ankar
|
UTSW |
1 |
72,666,484 (GRCm38) |
missense |
possibly damaging |
0.47 |
R8119:Ankar
|
UTSW |
1 |
72,647,001 (GRCm38) |
missense |
probably damaging |
0.98 |
R8244:Ankar
|
UTSW |
1 |
72,651,024 (GRCm38) |
missense |
probably benign |
|
R8342:Ankar
|
UTSW |
1 |
72,652,460 (GRCm38) |
missense |
probably damaging |
1.00 |
R8494:Ankar
|
UTSW |
1 |
72,658,794 (GRCm38) |
missense |
probably benign |
0.16 |
R8851:Ankar
|
UTSW |
1 |
72,652,376 (GRCm38) |
missense |
probably damaging |
1.00 |
R8970:Ankar
|
UTSW |
1 |
72,652,337 (GRCm38) |
critical splice donor site |
probably null |
|
R9228:Ankar
|
UTSW |
1 |
72,674,051 (GRCm38) |
missense |
probably benign |
0.27 |
R9511:Ankar
|
UTSW |
1 |
72,680,002 (GRCm38) |
missense |
probably benign |
0.23 |
R9577:Ankar
|
UTSW |
1 |
72,681,908 (GRCm38) |
missense |
probably benign |
0.02 |
R9612:Ankar
|
UTSW |
1 |
72,665,135 (GRCm38) |
missense |
possibly damaging |
0.65 |
R9647:Ankar
|
UTSW |
1 |
72,650,148 (GRCm38) |
missense |
probably damaging |
1.00 |
R9803:Ankar
|
UTSW |
1 |
72,659,181 (GRCm38) |
missense |
possibly damaging |
0.47 |
Z1176:Ankar
|
UTSW |
1 |
72,689,961 (GRCm38) |
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 |