Incidental Mutation 'R3624:Anks1'
| ID |
269351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks1
|
| Ensembl Gene |
ENSMUSG00000024219 |
| Gene Name |
ankyrin repeat and SAM domain containing 1 |
| Synonyms |
Odin |
| MMRRC Submission |
040678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3624 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28128280-28281749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28205262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 274
(F274L)
|
| 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: F274L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: F274L
| 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
AA Change: F253L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: F253L
| 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: F274L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: F274L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156965
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,790,650 (GRCm39) |
T905A |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
| Coch |
A |
G |
12: 51,649,609 (GRCm39) |
I307V |
probably benign |
Het |
| Colec11 |
T |
C |
12: 28,644,907 (GRCm39) |
M196V |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,512 (GRCm39) |
E141G |
probably benign |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
| Elp1 |
C |
T |
4: 56,798,708 (GRCm39) |
V85M |
possibly damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Esp4 |
A |
G |
17: 40,913,484 (GRCm39) |
K117R |
unknown |
Het |
| Fam186b |
A |
G |
15: 99,178,396 (GRCm39) |
L310S |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,957 (GRCm39) |
T20A |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,057,643 (GRCm39) |
G263D |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,636,700 (GRCm39) |
Y38H |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,849,798 (GRCm39) |
V35A |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,690,953 (GRCm39) |
V499D |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,740,783 (GRCm39) |
|
probably benign |
Het |
| Loxl4 |
A |
G |
19: 42,596,015 (GRCm39) |
V146A |
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,315,169 (GRCm39) |
C339Y |
probably damaging |
Het |
| Mog |
T |
C |
17: 37,323,338 (GRCm39) |
H200R |
possibly damaging |
Het |
| Nadk2 |
T |
A |
15: 9,084,303 (GRCm39) |
W139R |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,152,835 (GRCm39) |
T392A |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Racgap1 |
T |
A |
15: 99,540,772 (GRCm39) |
N26I |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,376,405 (GRCm39) |
D309G |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 38,420,201 (GRCm39) |
E17G |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Smad1 |
A |
G |
8: 80,066,327 (GRCm39) |
V450A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Spag11a |
A |
G |
8: 19,209,417 (GRCm39) |
D69G |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,090,593 (GRCm39) |
H559R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,707,999 (GRCm39) |
Y132C |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,556 (GRCm39) |
T98A |
probably benign |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Trim54 |
G |
A |
5: 31,294,320 (GRCm39) |
V319M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,894,601 (GRCm39) |
Y951C |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,860 (GRCm39) |
N77K |
probably damaging |
Het |
| Uhrf1 |
C |
T |
17: 56,624,023 (GRCm39) |
T482I |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,790 (GRCm39) |
M49L |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,753 (GRCm39) |
F474I |
probably benign |
Het |
| Zkscan8 |
C |
T |
13: 21,704,946 (GRCm39) |
R259Q |
probably 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 |
|
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 |
|
|
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'- TGGTAGCTTTAGAACCCACAC -3'
(R):5'- AACGAGCATTCTTCACTCGG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- TCGGCCATCAATAGTCCCG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation