Incidental Mutation 'R7384:Ankar'
ID |
572918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
045466-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7384 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 72697624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 1060
(I1060L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
AlphaFold |
A2RT91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053499
AA Change: I1060L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: I1060L
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: I1059L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: I842L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,507,191 (GRCm39) |
I65F |
possibly damaging |
Het |
Abca13 |
C |
A |
11: 9,283,257 (GRCm39) |
S3226R |
probably damaging |
Het |
Abhd14b |
A |
G |
9: 106,327,340 (GRCm39) |
I41V |
probably benign |
Het |
Acot2 |
T |
C |
12: 84,039,441 (GRCm39) |
S317P |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,314,513 (GRCm39) |
E284G |
possibly damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,714 (GRCm39) |
F148L |
probably benign |
Het |
Adcy10 |
C |
T |
1: 165,404,177 (GRCm39) |
P1611S |
unknown |
Het |
Agr2 |
A |
G |
12: 36,045,923 (GRCm39) |
T57A |
probably damaging |
Het |
Ano10 |
T |
A |
9: 122,005,409 (GRCm39) |
D77V |
unknown |
Het |
Anxa2r1 |
T |
A |
13: 120,496,797 (GRCm39) |
Q24L |
possibly damaging |
Het |
Apc2 |
G |
A |
10: 80,148,458 (GRCm39) |
V1171I |
probably damaging |
Het |
Apoa4 |
G |
A |
9: 46,152,772 (GRCm39) |
R19Q |
not run |
Het |
Arhgap33 |
A |
G |
7: 30,226,696 (GRCm39) |
S504P |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,311,707 (GRCm39) |
V1862A |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,512,331 (GRCm39) |
S511G |
probably benign |
Het |
Bcl10 |
A |
G |
3: 145,638,795 (GRCm39) |
K146E |
possibly damaging |
Het |
Bsg |
A |
T |
10: 79,545,631 (GRCm39) |
D181V |
probably damaging |
Het |
Btg4 |
T |
C |
9: 51,030,413 (GRCm39) |
V171A |
probably benign |
Het |
Cdh8 |
A |
C |
8: 99,957,138 (GRCm39) |
N188K |
probably benign |
Het |
Cflar |
C |
A |
1: 58,791,735 (GRCm39) |
T346K |
|
Het |
Chrna5 |
T |
C |
9: 54,912,117 (GRCm39) |
S306P |
probably damaging |
Het |
Cldn20 |
G |
A |
17: 3,582,886 (GRCm39) |
G20R |
probably damaging |
Het |
Clns1a |
G |
A |
7: 97,345,988 (GRCm39) |
A18T |
probably benign |
Het |
D130043K22Rik |
A |
G |
13: 25,066,588 (GRCm39) |
Y795C |
probably damaging |
Het |
Dync1li2 |
A |
C |
8: 105,169,175 (GRCm39) |
S38A |
probably benign |
Het |
Dysf |
A |
G |
6: 84,091,087 (GRCm39) |
E1043G |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,370,784 (GRCm39) |
|
probably null |
Het |
Eral1 |
A |
G |
11: 77,964,927 (GRCm39) |
I422T |
possibly damaging |
Het |
Exoc3 |
G |
A |
13: 74,320,275 (GRCm39) |
P729S |
probably benign |
Het |
Eya1 |
T |
A |
1: 14,299,736 (GRCm39) |
Y339F |
probably damaging |
Het |
Faah |
G |
T |
4: 115,862,364 (GRCm39) |
N206K |
probably damaging |
Het |
Fem1a |
A |
G |
17: 56,564,537 (GRCm39) |
E210G |
probably benign |
Het |
Gcc2 |
T |
A |
10: 58,105,786 (GRCm39) |
S341T |
probably damaging |
Het |
Gfpt2 |
A |
T |
11: 49,701,817 (GRCm39) |
I123F |
possibly damaging |
Het |
Gm3047 |
T |
A |
14: 4,558,271 (GRCm38) |
N164K |
probably damaging |
Het |
Gm3327 |
A |
G |
14: 44,362,334 (GRCm39) |
K78E |
|
Het |
Herpud1 |
A |
G |
8: 95,116,005 (GRCm39) |
I57V |
probably damaging |
Het |
Homer1 |
A |
T |
13: 93,529,547 (GRCm39) |
R285S |
possibly damaging |
Het |
Hps6 |
T |
A |
19: 45,992,456 (GRCm39) |
V131E |
possibly damaging |
Het |
Il1r1 |
T |
A |
1: 40,321,421 (GRCm39) |
I11N |
possibly damaging |
Het |
Jakmip1 |
T |
A |
5: 37,330,551 (GRCm39) |
D410E |
possibly damaging |
Het |
Kif3a |
T |
A |
11: 53,469,681 (GRCm39) |
F97L |
probably damaging |
Het |
Klf11 |
C |
T |
12: 24,703,742 (GRCm39) |
T76I |
probably damaging |
Het |
Ldlr |
A |
C |
9: 21,651,090 (GRCm39) |
T503P |
probably benign |
Het |
Mapk3 |
G |
C |
7: 126,363,463 (GRCm39) |
R279P |
|
Het |
Mb21d2 |
A |
T |
16: 28,647,664 (GRCm39) |
D103E |
probably benign |
Het |
Msh4 |
T |
A |
3: 153,594,385 (GRCm39) |
M333L |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,513,829 (GRCm39) |
I836T |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,115,201 (GRCm39) |
E1912V |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,150,364 (GRCm39) |
V887A |
probably benign |
Het |
Nlrp4a |
G |
A |
7: 26,148,963 (GRCm39) |
R190Q |
not run |
Het |
Nop53 |
T |
C |
7: 15,673,420 (GRCm39) |
T344A |
probably damaging |
Het |
Or2r3 |
A |
T |
6: 42,448,257 (GRCm39) |
L285Q |
possibly damaging |
Het |
Or5an11 |
T |
C |
19: 12,246,440 (GRCm39) |
V282A |
possibly damaging |
Het |
Or7h8 |
A |
G |
9: 20,124,041 (GRCm39) |
Y132C |
probably damaging |
Het |
Pcyox1l |
A |
C |
18: 61,831,461 (GRCm39) |
V266G |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,618,649 (GRCm39) |
Y654C |
probably damaging |
Het |
Polq |
T |
C |
16: 36,849,780 (GRCm39) |
S345P |
probably damaging |
Het |
Polr1f |
G |
T |
12: 33,483,631 (GRCm39) |
G128W |
probably damaging |
Het |
Prdm1 |
A |
T |
10: 44,334,503 (GRCm39) |
C8S |
probably benign |
Het |
Psg17 |
T |
A |
7: 18,552,585 (GRCm39) |
Q230L |
possibly damaging |
Het |
Rab11fip5 |
A |
T |
6: 85,325,312 (GRCm39) |
S332T |
possibly damaging |
Het |
Rac2 |
T |
A |
15: 78,446,131 (GRCm39) |
K186* |
probably null |
Het |
S100pbp |
T |
C |
4: 129,075,702 (GRCm39) |
N208D |
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,318,268 (GRCm39) |
V432D |
possibly damaging |
Het |
Skic3 |
A |
C |
13: 76,298,854 (GRCm39) |
S1187R |
possibly damaging |
Het |
Slc34a1 |
G |
T |
13: 55,550,747 (GRCm39) |
C225F |
probably benign |
Het |
Slc35e2 |
A |
T |
4: 155,695,089 (GRCm39) |
M152L |
probably benign |
Het |
Slc49a3 |
A |
T |
5: 108,593,926 (GRCm39) |
I61K |
probably damaging |
Het |
Slc9a4 |
T |
A |
1: 40,651,411 (GRCm39) |
I563K |
probably benign |
Het |
Sppl3 |
T |
G |
5: 115,199,700 (GRCm39) |
|
probably null |
Het |
Stam |
T |
C |
2: 14,139,241 (GRCm39) |
F301L |
probably benign |
Het |
Supt16 |
G |
A |
14: 52,418,619 (GRCm39) |
R213W |
probably damaging |
Het |
Tbc1d8 |
A |
T |
1: 39,433,179 (GRCm39) |
D334E |
probably benign |
Het |
Tmem87a |
C |
T |
2: 120,202,004 (GRCm39) |
|
probably null |
Het |
Tnk1 |
T |
C |
11: 69,742,447 (GRCm39) |
Y661C |
probably damaging |
Het |
Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,937,492 (GRCm39) |
D2947G |
probably damaging |
Het |
Traf4 |
A |
G |
11: 78,051,617 (GRCm39) |
|
probably null |
Het |
Trappc10 |
A |
T |
10: 78,045,218 (GRCm39) |
M490K |
possibly damaging |
Het |
Trav12-1 |
A |
G |
14: 53,775,993 (GRCm39) |
T49A |
probably benign |
Het |
Ubap1l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
9: 65,279,032 (GRCm39) |
|
probably benign |
Het |
Unc79 |
G |
T |
12: 103,137,837 (GRCm39) |
V2485L |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,132,360 (GRCm39) |
S861P |
probably damaging |
Het |
Vcam1 |
A |
G |
3: 115,910,877 (GRCm39) |
V507A |
possibly damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,320,895 (GRCm39) |
M81V |
probably benign |
Het |
Zfp652 |
G |
T |
11: 95,643,830 (GRCm39) |
V343L |
probably damaging |
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 |
R1456:Ankar
|
UTSW |
1 |
72,704,277 (GRCm39) |
missense |
probably benign |
0.34 |
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 |
|
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'- TTCTTTTGCAACAAAGGCCAC -3'
(R):5'- CATCAGCTAAGATGCAGTATGTAGG -3'
Sequencing Primer
(F):5'- TGTCACCATTTTAACTGACCAAG -3'
(R):5'- TAAGATGCAGTATGTAGGTAAGTTGC -3'
|
Posted On |
2019-09-13 |