Incidental Mutation 'R7303:Ankar'
| ID |
567075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
045364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72698192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 954
(I954N)
|
| 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: I954N
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I954N
| 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 |
possibly damaging
Transcript: ENSMUST00000211837
AA Change: I953N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: I736N
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
G |
17: 24,617,495 (GRCm39) |
L1064R |
possibly damaging |
Het |
| Abca7 |
A |
T |
10: 79,850,822 (GRCm39) |
D2051V |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,875,295 (GRCm39) |
I626F |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,977,774 (GRCm39) |
S333P |
probably damaging |
Het |
| Abl2 |
T |
C |
1: 156,468,820 (GRCm39) |
S695P |
probably benign |
Het |
| Aen |
C |
T |
7: 78,552,204 (GRCm39) |
P55S |
possibly damaging |
Het |
| Afg3l1 |
G |
T |
8: 124,228,008 (GRCm39) |
A598S |
probably damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,797,328 (GRCm39) |
L160Q |
probably damaging |
Het |
| Ang |
A |
T |
14: 51,338,973 (GRCm39) |
H38L |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,373,924 (GRCm39) |
K862* |
probably null |
Het |
| Brme1 |
G |
C |
8: 84,887,862 (GRCm39) |
G71A |
probably benign |
Het |
| Cad |
T |
C |
5: 31,217,557 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
A |
T |
19: 40,797,438 (GRCm39) |
Y740F |
unknown |
Het |
| Ccdc182 |
T |
C |
11: 88,185,042 (GRCm39) |
Y41H |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,778,532 (GRCm39) |
R2848G |
unknown |
Het |
| Chrna6 |
A |
T |
8: 27,897,019 (GRCm39) |
L286* |
probably null |
Het |
| Cimap1d |
G |
A |
10: 79,478,525 (GRCm39) |
P80S |
probably benign |
Het |
| Cracr2b |
A |
G |
7: 141,043,115 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,699,568 (GRCm39) |
|
probably null |
Het |
| Flnc |
T |
C |
6: 29,460,849 (GRCm39) |
S2647P |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,145,506 (GRCm39) |
D76G |
probably damaging |
Het |
| Fxyd1 |
T |
A |
7: 30,753,743 (GRCm39) |
M17L |
probably benign |
Het |
| Golim4 |
G |
A |
3: 75,785,360 (GRCm39) |
S677L |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,502,491 (GRCm39) |
V455A |
possibly damaging |
Het |
| H2-Q1 |
C |
A |
17: 35,540,312 (GRCm39) |
S132R |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,659,037 (GRCm39) |
I163V |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,358,098 (GRCm39) |
D2393V |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,965,762 (GRCm39) |
K44E |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,789,351 (GRCm39) |
D605G |
probably benign |
Het |
| Kbtbd12 |
G |
T |
6: 88,591,094 (GRCm39) |
F16L |
unknown |
Het |
| Klhl23 |
T |
C |
2: 69,655,045 (GRCm39) |
I305T |
probably benign |
Het |
| Lrguk |
A |
T |
6: 34,006,411 (GRCm39) |
N7I |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,641,774 (GRCm39) |
L1396P |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,678,637 (GRCm39) |
E13G |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,970 (GRCm39) |
V704A |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,165,508 (GRCm39) |
S1303P |
possibly damaging |
Het |
| Mcm2 |
T |
C |
6: 88,864,928 (GRCm39) |
D516G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
T |
A |
11: 105,216,629 (GRCm39) |
N139K |
probably damaging |
Het |
| Myh14 |
C |
T |
7: 44,261,125 (GRCm39) |
E1789K |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,460,660 (GRCm39) |
L271Q |
probably damaging |
Het |
| Oog2 |
A |
T |
4: 143,921,912 (GRCm39) |
H274L |
probably benign |
Het |
| Oosp1 |
A |
C |
19: 11,645,774 (GRCm39) |
S121R |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,218,267 (GRCm39) |
S218P |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,521,166 (GRCm39) |
V51A |
probably benign |
Het |
| Pepd |
T |
C |
7: 34,721,197 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
A |
C |
7: 116,005,178 (GRCm39) |
S363R |
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,468,868 (GRCm39) |
Y215H |
probably benign |
Het |
| Ppcdc |
A |
T |
9: 57,321,958 (GRCm39) |
V194E |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,509,667 (GRCm39) |
I470S |
probably benign |
Het |
| Scgb1b3 |
G |
A |
7: 31,075,383 (GRCm39) |
A78T |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,083,345 (GRCm39) |
L368Q |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,647,576 (GRCm39) |
I944F |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,206,805 (GRCm39) |
H3461L |
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,145 (GRCm39) |
Y208C |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,193,809 (GRCm39) |
E1003G |
probably damaging |
Het |
| Tm9sf3 |
G |
A |
19: 41,227,198 (GRCm39) |
S291F |
probably damaging |
Het |
| Tra2a |
G |
A |
6: 49,227,921 (GRCm39) |
T69I |
unknown |
Het |
| Ube2q1 |
T |
A |
3: 89,683,898 (GRCm39) |
L171Q |
possibly damaging |
Het |
| Ufd1 |
A |
G |
16: 18,636,715 (GRCm39) |
T78A |
probably damaging |
Het |
| Vmn1r13 |
T |
C |
6: 57,187,587 (GRCm39) |
S249P |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,861,258 (GRCm39) |
S648L |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,684,058 (GRCm39) |
N224K |
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 |
|
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 |
|
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'- ACTCAGTGCATGTGTACTAGAC -3'
(R):5'- CACTCTTTTGAAGATGTGCTGAAG -3'
Sequencing Primer
(F):5'- GTGTACTAGACACATTACAGAT -3'
(R):5'- AGGCACTGTCCTCAGCTACAATTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation