Incidental Mutation 'R9547:Anks1'
| ID |
720212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks1
|
| Ensembl Gene |
ENSMUSG00000024219 |
| Gene Name |
ankyrin repeat and SAM domain containing 1 |
| Synonyms |
Odin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28128280-28281749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28270748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 845
(L845P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025058]
[ENSMUST00000088027]
[ENSMUST00000114842]
|
| AlphaFold |
P59672 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025058
AA Change: L845P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: L845P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
165 |
194 |
1.88e-5 |
SMART |
|
ANK
|
198 |
227 |
1.93e-2 |
SMART |
|
ANK
|
231 |
260 |
1.64e-5 |
SMART |
|
ANK
|
263 |
292 |
7.71e-2 |
SMART |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
|
SAM
|
709 |
778 |
3.2e-16 |
SMART |
|
SAM
|
783 |
851 |
4.33e-13 |
SMART |
|
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
|
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
low complexity region
|
1126 |
1135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088027
AA Change: L824P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: L824P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
144 |
173 |
1.88e-5 |
SMART |
|
ANK
|
177 |
206 |
1.93e-2 |
SMART |
|
ANK
|
210 |
239 |
1.64e-5 |
SMART |
|
ANK
|
242 |
271 |
7.71e-2 |
SMART |
|
low complexity region
|
398 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
626 |
N/A |
INTRINSIC |
|
SAM
|
688 |
757 |
3.2e-16 |
SMART |
|
SAM
|
762 |
830 |
4.33e-13 |
SMART |
|
Blast:PTB
|
840 |
898 |
2e-22 |
BLAST |
|
PTB
|
932 |
1066 |
3.17e-43 |
SMART |
|
low complexity region
|
1105 |
1114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114842
AA Change: L845P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: L845P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
165 |
194 |
1.88e-5 |
SMART |
|
ANK
|
198 |
227 |
1.93e-2 |
SMART |
|
ANK
|
231 |
260 |
1.64e-5 |
SMART |
|
ANK
|
263 |
292 |
7.71e-2 |
SMART |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
|
SAM
|
709 |
778 |
3.2e-16 |
SMART |
|
SAM
|
783 |
851 |
4.33e-13 |
SMART |
|
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
|
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
G |
T |
3: 59,772,656 (GRCm39) |
M53I |
probably benign |
Het |
| Abtb1 |
C |
T |
6: 88,815,917 (GRCm39) |
V185M |
probably damaging |
Het |
| Acod1 |
A |
T |
14: 103,292,294 (GRCm39) |
S273C |
probably benign |
Het |
| Aifm3 |
T |
C |
16: 17,317,604 (GRCm39) |
V75A |
probably benign |
Het |
| Apc |
A |
G |
18: 34,445,311 (GRCm39) |
K736E |
possibly damaging |
Het |
| Atad2 |
A |
G |
15: 57,989,973 (GRCm39) |
S168P |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,759,757 (GRCm39) |
A143T |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,380,841 (GRCm39) |
H116L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,683,186 (GRCm39) |
R542H |
unknown |
Het |
| Crnkl1 |
T |
C |
2: 145,772,550 (GRCm39) |
M176V |
possibly damaging |
Het |
| Dnah14 |
A |
C |
1: 181,420,992 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,624,805 (GRCm39) |
E3744G |
probably damaging |
Het |
| Ednrb |
T |
C |
14: 104,080,459 (GRCm39) |
I152V |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,911,142 (GRCm39) |
I1620N |
possibly damaging |
Het |
| Fbxo4 |
G |
A |
15: 3,998,493 (GRCm39) |
P322S |
probably damaging |
Het |
| Fbxw10 |
G |
T |
11: 62,767,647 (GRCm39) |
V828F |
possibly damaging |
Het |
| Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
C |
8: 70,273,381 (GRCm39) |
S891P |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,893,919 (GRCm39) |
I389T |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hhatl |
A |
G |
9: 121,618,649 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ighv1-69 |
A |
G |
12: 115,586,885 (GRCm39) |
F83L |
possibly damaging |
Het |
| Intu |
G |
A |
3: 40,608,536 (GRCm39) |
V183I |
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,870,789 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
C |
4: 74,323,104 (GRCm39) |
D1012A |
possibly damaging |
Het |
| Klrc2 |
C |
G |
6: 129,633,812 (GRCm39) |
A188P |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,728,146 (GRCm39) |
D104G |
unknown |
Het |
| Lrrc63 |
A |
T |
14: 75,344,828 (GRCm39) |
L420M |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,161,069 (GRCm39) |
|
probably null |
Het |
| Mrpl50 |
T |
A |
4: 49,514,338 (GRCm39) |
H111L |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,779,855 (GRCm39) |
I78T |
possibly damaging |
Het |
| Npepl1 |
A |
G |
2: 173,962,030 (GRCm39) |
D304G |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
| Or2n1d |
G |
T |
17: 38,646,341 (GRCm39) |
V98F |
possibly damaging |
Het |
| Or5k3 |
T |
C |
16: 58,970,107 (GRCm39) |
I298T |
possibly damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,927 (GRCm39) |
T38I |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,709,506 (GRCm39) |
I603K |
possibly damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,484,174 (GRCm39) |
Y818N |
unknown |
Het |
| Phf10 |
A |
G |
17: 15,166,459 (GRCm39) |
|
probably null |
Het |
| Phgdh |
A |
G |
3: 98,241,950 (GRCm39) |
S55P |
probably damaging |
Het |
| Poll |
G |
T |
19: 45,546,359 (GRCm39) |
P227H |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,561 (GRCm39) |
S576R |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,214,087 (GRCm39) |
I192V |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,977,873 (GRCm39) |
D1038G |
probably benign |
Het |
| Snx18 |
A |
G |
13: 113,753,754 (GRCm39) |
M393T |
possibly damaging |
Het |
| Srsf11 |
A |
G |
3: 157,717,735 (GRCm39) |
C448R |
unknown |
Het |
| Sv2c |
A |
G |
13: 96,185,008 (GRCm39) |
I223T |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,330,950 (GRCm39) |
V43A |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,253,591 (GRCm39) |
T441A |
probably damaging |
Het |
| Thnsl2 |
T |
A |
6: 71,116,810 (GRCm39) |
D114V |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,748,467 (GRCm39) |
V1401A |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,049,588 (GRCm39) |
S769P |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,370,429 (GRCm39) |
D776G |
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,931,567 (GRCm39) |
S222P |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,347,251 (GRCm39) |
Y290C |
probably damaging |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,455 (GRCm39) |
D46V |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,735 (GRCm39) |
F789I |
probably damaging |
Het |
| Zfp266 |
A |
G |
9: 20,411,746 (GRCm39) |
S144P |
probably benign |
Het |
|
| Other mutations in Anks1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Anks1
|
APN |
17 |
28,277,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00816:Anks1
|
APN |
17 |
28,278,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00940:Anks1
|
APN |
17 |
28,276,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01306:Anks1
|
APN |
17 |
28,205,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01485:Anks1
|
APN |
17 |
28,270,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Anks1
|
APN |
17 |
28,227,020 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02220:Anks1
|
APN |
17 |
28,273,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02955:Anks1
|
APN |
17 |
28,273,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03071:Anks1
|
APN |
17 |
28,227,173 (GRCm39) |
missense |
probably benign |
0.37 |
|
ANU23:Anks1
|
UTSW |
17 |
28,205,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Anks1
|
UTSW |
17 |
28,278,554 (GRCm39) |
intron |
probably benign |
|
|
R0389:Anks1
|
UTSW |
17 |
28,214,926 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1221:Anks1
|
UTSW |
17 |
28,269,616 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1523:Anks1
|
UTSW |
17 |
28,270,629 (GRCm39) |
splice site |
probably null |
|
|
R1639:Anks1
|
UTSW |
17 |
28,277,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Anks1
|
UTSW |
17 |
28,205,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Anks1
|
UTSW |
17 |
28,204,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Anks1
|
UTSW |
17 |
28,204,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Anks1
|
UTSW |
17 |
28,227,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Anks1
|
UTSW |
17 |
28,197,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2897:Anks1
|
UTSW |
17 |
28,204,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2965:Anks1
|
UTSW |
17 |
28,272,879 (GRCm39) |
missense |
probably benign |
|
|
R3624:Anks1
|
UTSW |
17 |
28,205,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Anks1
|
UTSW |
17 |
28,270,552 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4786:Anks1
|
UTSW |
17 |
28,271,704 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4871:Anks1
|
UTSW |
17 |
28,210,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4936:Anks1
|
UTSW |
17 |
28,207,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Anks1
|
UTSW |
17 |
28,261,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Anks1
|
UTSW |
17 |
28,214,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Anks1
|
UTSW |
17 |
28,210,421 (GRCm39) |
splice site |
probably null |
|
|
R6226:Anks1
|
UTSW |
17 |
28,276,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6306:Anks1
|
UTSW |
17 |
28,269,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Anks1
|
UTSW |
17 |
28,271,709 (GRCm39) |
missense |
probably benign |
|
|
R6891:Anks1
|
UTSW |
17 |
28,276,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Anks1
|
UTSW |
17 |
28,273,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7465:Anks1
|
UTSW |
17 |
28,273,297 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7502:Anks1
|
UTSW |
17 |
28,227,114 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7749:Anks1
|
UTSW |
17 |
28,257,115 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7943:Anks1
|
UTSW |
17 |
28,204,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Anks1
|
UTSW |
17 |
28,278,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Anks1
|
UTSW |
17 |
28,205,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8301:Anks1
|
UTSW |
17 |
28,278,554 (GRCm39) |
intron |
probably benign |
|
|
R8476:Anks1
|
UTSW |
17 |
28,273,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Anks1
|
UTSW |
17 |
28,214,984 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9258:Anks1
|
UTSW |
17 |
28,277,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Anks1
|
UTSW |
17 |
28,272,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9386:Anks1
|
UTSW |
17 |
28,272,880 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9710:Anks1
|
UTSW |
17 |
28,128,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9801:Anks1
|
UTSW |
17 |
28,227,033 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATCGACACTGTGAAGAAC -3'
(R):5'- TGGGCCTTCATTAAGAACCACC -3'
Sequencing Primer
(F):5'- TCGACACTGTGAAGAACCTCTGG -3'
(R):5'- ACCCCAAGGATTCTGGGTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation