Incidental Mutation 'R2099:Anks1'
| ID |
233269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks1
|
| Ensembl Gene |
ENSMUSG00000024219 |
| Gene Name |
ankyrin repeat and SAM domain containing 1 |
| Synonyms |
Odin |
| MMRRC Submission |
040103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2099 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28128280-28281749 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 28197465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025058]
[ENSMUST00000088027]
[ENSMUST00000114842]
|
| AlphaFold |
P59672 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025058
|
| SMART Domains |
Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
| 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 benign
Transcript: ENSMUST00000088027
|
| SMART Domains |
Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
| 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 null
Transcript: ENSMUST00000114842
|
| SMART Domains |
Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,817,820 (GRCm39) |
R14Q |
unknown |
Het |
| Aga |
C |
A |
8: 53,974,166 (GRCm39) |
Y286* |
probably null |
Het |
| Arih2 |
A |
T |
9: 108,493,937 (GRCm39) |
F159I |
probably damaging |
Het |
| Asxl1 |
A |
T |
2: 153,194,187 (GRCm39) |
M46L |
possibly damaging |
Het |
| Atp23 |
G |
T |
10: 126,727,595 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
T |
A |
13: 24,357,650 (GRCm39) |
L66F |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,192,059 (GRCm39) |
V1027A |
probably benign |
Het |
| Cx3cr1 |
G |
A |
9: 119,881,339 (GRCm39) |
A21V |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,403 (GRCm39) |
F221S |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,384,063 (GRCm39) |
D1051G |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,768,429 (GRCm39) |
E958G |
possibly damaging |
Het |
| Eif3a |
C |
A |
19: 60,752,551 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,388,066 (GRCm39) |
D678G |
probably damaging |
Het |
| Fpr3 |
G |
T |
17: 18,191,443 (GRCm39) |
R238L |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,342,488 (GRCm39) |
S1594G |
probably benign |
Het |
| Gbp4 |
A |
C |
5: 105,268,947 (GRCm39) |
L402W |
probably damaging |
Het |
| Gdpd5 |
T |
A |
7: 99,097,696 (GRCm39) |
L164Q |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,487,616 (GRCm39) |
|
probably null |
Het |
| Kcp |
G |
T |
6: 29,496,164 (GRCm39) |
C723* |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,284,486 (GRCm39) |
F2L |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,630,185 (GRCm39) |
D633E |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,186,732 (GRCm39) |
I79V |
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,147,827 (GRCm39) |
S27P |
probably benign |
Het |
| Mmp3 |
A |
G |
9: 7,453,672 (GRCm39) |
D431G |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,634,649 (GRCm39) |
Y2423* |
probably null |
Het |
| Ndc80 |
A |
T |
17: 71,811,773 (GRCm39) |
D484E |
probably benign |
Het |
| Ndufb8 |
T |
A |
19: 44,543,749 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,931,589 (GRCm39) |
S41T |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,022,637 (GRCm39) |
C819R |
possibly damaging |
Het |
| Or10d3 |
A |
G |
9: 39,461,963 (GRCm39) |
V68A |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,177 (GRCm39) |
I298T |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,169,152 (GRCm39) |
N134I |
probably damaging |
Het |
| Pheta1 |
C |
T |
5: 121,991,349 (GRCm39) |
P237L |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Samd7 |
T |
C |
3: 30,810,709 (GRCm39) |
V242A |
probably benign |
Het |
| Sde2 |
T |
C |
1: 180,693,713 (GRCm39) |
L401P |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,049,758 (GRCm39) |
D340G |
probably benign |
Het |
| Slc2a5 |
T |
A |
4: 150,227,634 (GRCm39) |
Y484* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,853,885 (GRCm39) |
L27P |
probably damaging |
Het |
| Sqstm1 |
T |
C |
11: 50,093,811 (GRCm39) |
T269A |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,026,747 (GRCm39) |
V3525A |
probably benign |
Het |
| Tctn1 |
G |
A |
5: 122,380,772 (GRCm39) |
P512L |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,082,411 (GRCm39) |
F722S |
probably damaging |
Het |
| Treh |
A |
G |
9: 44,595,943 (GRCm39) |
Y376C |
probably damaging |
Het |
| Trim47 |
T |
C |
11: 115,997,170 (GRCm39) |
N529S |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,719,049 (GRCm39) |
V184A |
possibly damaging |
Het |
| Tyrp1 |
T |
A |
4: 80,753,616 (GRCm39) |
N102K |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,151,568 (GRCm39) |
S724T |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,474 (GRCm39) |
K702N |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,218,361 (GRCm39) |
T128I |
possibly damaging |
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 |
|
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 |
|
R9547:Anks1
|
UTSW |
17 |
28,270,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCTGTTCTCGCTAGCTTGC -3'
(R):5'- ACAGTTTTAAAGCTAAGGCCTCG -3'
Sequencing Primer
(F):5'- CGCTAGCTTGCTCCATCAG -3'
(R):5'- CTCGGCCCATGGTGTTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation