Incidental Mutation 'R8005:Anks1'
| ID |
616601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks1
|
| Ensembl Gene |
ENSMUSG00000024219 |
| Gene Name |
ankyrin repeat and SAM domain containing 1 |
| Synonyms |
Odin |
| MMRRC Submission |
046045-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8005 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28128280-28281749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28278341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1175
(D1175G)
|
| 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: D1175G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: D1175G
| 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 |
possibly damaging
Transcript: ENSMUST00000088027
AA Change: D1154G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: D1154G
| 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: D1142G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: D1142G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,774 (GRCm39) |
D294G |
probably benign |
Het |
| Ak8 |
A |
T |
2: 28,602,314 (GRCm39) |
S83C |
probably benign |
Het |
| Ankrd34b |
C |
A |
13: 92,575,230 (GRCm39) |
A154E |
possibly damaging |
Het |
| Ano4 |
T |
A |
10: 88,807,183 (GRCm39) |
L799F |
probably benign |
Het |
| Aplp1 |
T |
C |
7: 30,135,470 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,059,744 (GRCm39) |
H2742L |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,602,277 (GRCm39) |
Q292* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,830,661 (GRCm39) |
G374D |
probably damaging |
Het |
| B4galt5 |
A |
G |
2: 167,143,384 (GRCm39) |
S347P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,456 (GRCm39) |
T620A |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,450,213 (GRCm39) |
D329V |
probably damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,352,400 (GRCm39) |
|
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
A |
6: 30,873,632 (GRCm39) |
M1L |
possibly damaging |
Het |
| D430041D05Rik |
G |
A |
2: 104,088,599 (GRCm39) |
H164Y |
possibly damaging |
Het |
| Dscaml1 |
G |
T |
9: 45,628,808 (GRCm39) |
G1121C |
probably damaging |
Het |
| Gas2l1 |
A |
T |
11: 5,011,552 (GRCm39) |
S426T |
probably benign |
Het |
| Gm9195 |
T |
A |
14: 72,663,840 (GRCm39) |
I2740F |
probably benign |
Het |
| Irgm1 |
A |
G |
11: 48,757,217 (GRCm39) |
I214T |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,655 (GRCm39) |
T343I |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Ly75 |
A |
T |
2: 60,163,278 (GRCm39) |
Y804N |
probably damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,722 (GRCm39) |
H432R |
probably damaging |
Het |
| Nsrp1 |
A |
T |
11: 76,936,612 (GRCm39) |
M528K |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,006 (GRCm39) |
I162V |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,482,096 (GRCm39) |
N258I |
probably damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,156 (GRCm39) |
T33A |
probably benign |
Het |
| Or2y1b |
G |
T |
11: 49,208,968 (GRCm39) |
M198I |
probably benign |
Het |
| Or5p6 |
T |
C |
7: 107,631,470 (GRCm39) |
R27G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,693 (GRCm39) |
V54A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,328 (GRCm39) |
V20M |
probably damaging |
Het |
| Pigb |
A |
T |
9: 72,922,546 (GRCm39) |
M13K |
unknown |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
C |
7: 116,017,271 (GRCm39) |
Y162C |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,067 (GRCm39) |
D61V |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pramel17 |
A |
G |
4: 101,694,448 (GRCm39) |
V145A |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,685,144 (GRCm39) |
D256G |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,482,437 (GRCm39) |
D196E |
|
Het |
| Sbf1 |
A |
G |
15: 89,178,408 (GRCm39) |
L1498P |
probably damaging |
Het |
| Sh2b1 |
T |
C |
7: 126,068,479 (GRCm39) |
D444G |
possibly damaging |
Het |
| Slc7a15 |
T |
G |
12: 8,589,395 (GRCm39) |
M51L |
probably damaging |
Het |
| Slitrk1 |
T |
C |
14: 109,150,697 (GRCm39) |
I5V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,024,773 (GRCm39) |
C123S |
probably benign |
Het |
| Sry |
C |
T |
Y: 2,663,303 (GRCm39) |
R119K |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,625,681 (GRCm39) |
S1423N |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,686 (GRCm39) |
V24A |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,872,684 (GRCm39) |
M331L |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,755 (GRCm39) |
I170V |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,343,796 (GRCm39) |
S1220R |
probably damaging |
Het |
| Tmem262 |
T |
C |
19: 6,130,507 (GRCm39) |
M77T |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,821 (GRCm39) |
S771P |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,570 (GRCm39) |
A1423V |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,139,941 (GRCm39) |
Y1175N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,873,956 (GRCm39) |
A511T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,563,124 (GRCm39) |
Y58* |
probably null |
Het |
| Wt1 |
T |
C |
2: 104,957,789 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
T |
11: 73,603,140 (GRCm39) |
K695* |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,568 (GRCm39) |
F321S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,064 (GRCm39) |
E364G |
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 |
|
|
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 |
|
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'- ATGTGCCGATCCCTCAGATG -3'
(R):5'- TGGTTCTGCTGGAAGACCAC -3'
Sequencing Primer
(F):5'- GATCCCTCAGATGCTTCAGAGAG -3'
(R):5'- TATGAGGCCCCCTTCAAAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation