Incidental Mutation 'R6296:Ankar'
ID |
508739 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
044407-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6296 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
72642980-72700579 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 72643258 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 1383
(T1383P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
AlphaFold |
A2RT91 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053499
AA Change: T1383P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: T1383P
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 damaging
Transcript: ENSMUST00000211837
AA Change: T1382P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212057
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212573
AA Change: T1165P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,195,754 (GRCm38) |
K277R |
probably damaging |
Het |
Aatf |
T |
C |
11: 84,473,100 (GRCm38) |
Y267C |
probably benign |
Het |
Adcy5 |
A |
G |
16: 35,303,710 (GRCm38) |
Y1253C |
probably damaging |
Het |
Adgra3 |
G |
A |
5: 49,960,847 (GRCm38) |
P1120S |
probably benign |
Het |
Adm |
A |
G |
7: 110,628,354 (GRCm38) |
T26A |
probably benign |
Het |
Ahnak |
T |
G |
19: 9,003,305 (GRCm38) |
V651G |
probably damaging |
Het |
Akr7a5 |
G |
A |
4: 139,318,221 (GRCm38) |
V358I |
probably benign |
Het |
Bpifb6 |
G |
C |
2: 153,906,892 (GRCm38) |
K269N |
possibly damaging |
Het |
Cacna1c |
T |
C |
6: 118,598,723 (GRCm38) |
E1927G |
possibly damaging |
Het |
Cacna1c |
T |
A |
6: 118,652,714 (GRCm38) |
T1249S |
probably benign |
Het |
Cacna1h |
G |
A |
17: 25,383,079 (GRCm38) |
R1596C |
probably damaging |
Het |
Cbll1 |
A |
G |
12: 31,487,508 (GRCm38) |
V415A |
probably benign |
Het |
Cd300lf |
C |
T |
11: 115,124,369 (GRCm38) |
V132I |
probably benign |
Het |
Cfap54 |
T |
C |
10: 93,066,846 (GRCm38) |
Y148C |
probably damaging |
Het |
Coa5 |
A |
G |
1: 37,428,347 (GRCm38) |
S60P |
probably damaging |
Het |
Col6a2 |
T |
C |
10: 76,611,049 (GRCm38) |
N342D |
probably damaging |
Het |
Cyp2c29 |
T |
G |
19: 39,330,261 (GRCm38) |
I434S |
possibly damaging |
Het |
Ddx11 |
G |
A |
17: 66,150,729 (GRCm38) |
|
probably null |
Het |
Dgke |
C |
T |
11: 89,040,749 (GRCm38) |
V560I |
probably benign |
Het |
Dusp16 |
C |
A |
6: 134,720,493 (GRCm38) |
|
probably null |
Het |
Enpp4 |
G |
T |
17: 44,102,480 (GRCm38) |
N54K |
probably benign |
Het |
Epn1 |
G |
A |
7: 5,090,123 (GRCm38) |
A145T |
probably damaging |
Het |
Erc2 |
A |
T |
14: 28,080,155 (GRCm38) |
K764M |
probably damaging |
Het |
Ercc6 |
G |
T |
14: 32,526,403 (GRCm38) |
E304* |
probably null |
Het |
Fam117a |
T |
A |
11: 95,364,145 (GRCm38) |
C115S |
possibly damaging |
Het |
Galntl5 |
T |
C |
5: 25,186,165 (GRCm38) |
S21P |
probably benign |
Het |
Gm6358 |
T |
C |
16: 89,141,082 (GRCm38) |
S70P |
unknown |
Het |
Grip1 |
C |
T |
10: 120,075,464 (GRCm38) |
Q696* |
probably null |
Het |
Haus5 |
C |
T |
7: 30,658,976 (GRCm38) |
W298* |
probably null |
Het |
Hsfy2 |
T |
A |
1: 56,637,192 (GRCm38) |
H62L |
probably benign |
Het |
Ighm |
T |
C |
12: 113,421,567 (GRCm38) |
I258V |
unknown |
Het |
Igkv13-71-1 |
G |
T |
6: 69,235,799 (GRCm38) |
|
noncoding transcript |
Het |
Inava |
C |
T |
1: 136,221,071 (GRCm38) |
|
probably null |
Het |
Irx1 |
A |
C |
13: 71,959,668 (GRCm38) |
S298R |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 44,903,063 (GRCm38) |
Y443N |
possibly damaging |
Het |
Kcnc1 |
G |
A |
7: 46,435,316 (GRCm38) |
A555T |
probably benign |
Het |
Krtap4-6 |
T |
A |
11: 99,665,419 (GRCm38) |
R161* |
probably null |
Het |
Lipo1 |
T |
C |
19: 33,780,337 (GRCm38) |
D244G |
probably benign |
Het |
Lmo2 |
T |
G |
2: 103,970,601 (GRCm38) |
V39G |
possibly damaging |
Het |
Lrch2 |
C |
T |
X: 147,480,557 (GRCm38) |
A369T |
probably damaging |
Homo |
Macf1 |
A |
T |
4: 123,432,875 (GRCm38) |
I4943N |
probably damaging |
Het |
Mkx |
A |
T |
18: 7,000,591 (GRCm38) |
|
probably null |
Het |
Nek1 |
C |
T |
8: 61,072,309 (GRCm38) |
Q594* |
probably null |
Het |
Nipbl |
T |
C |
15: 8,300,895 (GRCm38) |
M2349V |
possibly damaging |
Het |
Nup155 |
T |
A |
15: 8,153,155 (GRCm38) |
C1201S |
probably damaging |
Het |
Or2y8 |
C |
A |
11: 52,144,596 (GRCm38) |
R311S |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,630,631 (GRCm38) |
T89I |
probably damaging |
Het |
Or5ac25 |
T |
C |
16: 59,361,406 (GRCm38) |
K271E |
probably benign |
Het |
Osbpl1a |
A |
G |
18: 12,819,503 (GRCm38) |
|
probably null |
Het |
Pbx1 |
T |
C |
1: 168,183,615 (GRCm38) |
D372G |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,262,953 (GRCm38) |
S1668T |
probably damaging |
Het |
Pitpnc1 |
T |
C |
11: 107,226,266 (GRCm38) |
H193R |
probably damaging |
Het |
Plag1 |
G |
T |
4: 3,904,499 (GRCm38) |
H231N |
probably damaging |
Het |
Prmt8 |
A |
G |
6: 127,711,804 (GRCm38) |
I201T |
probably damaging |
Het |
Ptpn23 |
A |
T |
9: 110,393,826 (GRCm38) |
N54K |
probably damaging |
Het |
Rab11fip4 |
T |
C |
11: 79,690,829 (GRCm38) |
|
probably null |
Het |
Rassf9 |
T |
A |
10: 102,545,753 (GRCm38) |
I332N |
probably damaging |
Het |
Rgs9 |
T |
C |
11: 109,268,987 (GRCm38) |
N173S |
probably benign |
Het |
Rhbdl1 |
A |
G |
17: 25,834,969 (GRCm38) |
L309P |
probably damaging |
Het |
Rnf214 |
A |
G |
9: 45,867,821 (GRCm38) |
S389P |
probably benign |
Het |
Rxfp1 |
A |
C |
3: 79,667,848 (GRCm38) |
L181R |
probably damaging |
Het |
Sfxn1 |
C |
T |
13: 54,093,880 (GRCm38) |
T208I |
probably benign |
Het |
Sgo2b |
C |
T |
8: 63,927,793 (GRCm38) |
M668I |
probably benign |
Het |
Sh3bp4 |
C |
A |
1: 89,145,489 (GRCm38) |
S686R |
probably damaging |
Het |
Spata31d1d |
G |
A |
13: 59,728,464 (GRCm38) |
T419I |
possibly damaging |
Het |
Spata31d1e |
T |
C |
13: 59,742,683 (GRCm38) |
D441G |
probably benign |
Het |
Spink5 |
T |
C |
18: 44,014,757 (GRCm38) |
S857P |
probably damaging |
Het |
Stard13 |
A |
T |
5: 151,062,673 (GRCm38) |
S339R |
probably damaging |
Het |
Stk35 |
T |
A |
2: 129,810,888 (GRCm38) |
Y436* |
probably null |
Het |
Supt6 |
C |
T |
11: 78,226,059 (GRCm38) |
R589Q |
possibly damaging |
Het |
Tinag |
T |
A |
9: 76,996,935 (GRCm38) |
E402V |
possibly damaging |
Het |
Tmem183a |
T |
C |
1: 134,361,611 (GRCm38) |
D27G |
probably damaging |
Het |
Tnfrsf13c |
T |
C |
15: 82,223,902 (GRCm38) |
T56A |
probably damaging |
Het |
Tnrc18 |
A |
C |
5: 142,733,576 (GRCm38) |
L1985R |
unknown |
Het |
Ttn |
G |
A |
2: 76,749,329 (GRCm38) |
T23740M |
probably damaging |
Het |
Ufl1 |
G |
T |
4: 25,270,572 (GRCm38) |
Q215K |
probably benign |
Het |
Unkl |
T |
C |
17: 25,231,865 (GRCm38) |
*232R |
probably null |
Het |
Wnk4 |
A |
T |
11: 101,273,998 (GRCm38) |
N718Y |
probably damaging |
Het |
Xkr4 |
T |
C |
1: 3,216,570 (GRCm38) |
T466A |
probably benign |
Het |
Zfp451 |
T |
A |
1: 33,769,817 (GRCm38) |
K988* |
probably null |
Het |
Zfp503 |
G |
C |
14: 21,985,800 (GRCm38) |
Y349* |
probably null |
Het |
Zfp990 |
T |
A |
4: 145,538,103 (GRCm38) |
F557Y |
possibly damaging |
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 |
R1456:Ankar
|
UTSW |
1 |
72,665,118 (GRCm38) |
missense |
probably benign |
0.34 |
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 |
|
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'- AAATGCTGGAGGGTCTGGGT -3'
(R):5'- GGCCAATGACAGTGTATGTTGTC -3'
Sequencing Primer
(F):5'- GGGTTGGCTTTCTGTTCATCTTTCC -3'
(R):5'- CTGATCCTTTTTAGAAGACCCGAG -3'
|
Posted On |
2018-04-02 |