Incidental Mutation 'R1585:Ankmy1'
| ID |
177402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
039622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1585 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92827373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 60
(S60P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112998
AA Change: S60P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: S60P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
68 |
N/A |
INTRINSIC |
|
MORN
|
87 |
108 |
4.22e0 |
SMART |
|
MORN
|
110 |
131 |
7.05e-5 |
SMART |
|
MORN
|
155 |
176 |
7.15e1 |
SMART |
|
ANK
|
378 |
407 |
4.32e-5 |
SMART |
|
Blast:ANK
|
575 |
604 |
2e-10 |
BLAST |
|
ANK
|
607 |
636 |
2.63e2 |
SMART |
|
ANK
|
643 |
675 |
1.87e2 |
SMART |
|
ANK
|
719 |
753 |
1.73e-4 |
SMART |
|
ANK
|
756 |
785 |
6.92e-4 |
SMART |
|
Blast:ANK
|
790 |
828 |
1e-12 |
BLAST |
|
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
940 |
980 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160548
AA Change: S60P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: S60P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
68 |
N/A |
INTRINSIC |
|
MORN
|
87 |
108 |
4.22e0 |
SMART |
|
MORN
|
110 |
131 |
7.05e-5 |
SMART |
|
MORN
|
155 |
176 |
7.15e1 |
SMART |
|
ANK
|
378 |
407 |
4.32e-5 |
SMART |
|
Blast:ANK
|
575 |
604 |
2e-10 |
BLAST |
|
ANK
|
607 |
636 |
2.63e2 |
SMART |
|
ANK
|
643 |
675 |
1.87e2 |
SMART |
|
ANK
|
719 |
753 |
1.73e-4 |
SMART |
|
ANK
|
756 |
785 |
6.92e-4 |
SMART |
|
Blast:ANK
|
790 |
828 |
1e-12 |
BLAST |
|
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
941 |
981 |
2.3e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
| Validation Efficiency |
95% (81/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
A |
10: 28,858,518 (GRCm39) |
I50F |
possibly damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,377,175 (GRCm39) |
|
probably benign |
Het |
| Aadat |
A |
T |
8: 60,979,714 (GRCm39) |
D192V |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,640 (GRCm39) |
D150G |
probably benign |
Het |
| Amigo3 |
A |
T |
9: 107,931,231 (GRCm39) |
N218I |
probably damaging |
Het |
| Apol7e |
G |
A |
15: 77,602,029 (GRCm39) |
S209N |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,510,632 (GRCm39) |
Y234* |
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,111 (GRCm39) |
D393E |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,244,398 (GRCm39) |
L444P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,586,780 (GRCm39) |
E886G |
unknown |
Het |
| Ccnb2 |
A |
T |
9: 70,317,559 (GRCm39) |
|
probably null |
Het |
| Cd276 |
T |
C |
9: 58,442,838 (GRCm39) |
S206G |
probably damaging |
Het |
| Cds1 |
T |
A |
5: 101,965,828 (GRCm39) |
|
probably benign |
Het |
| Cfap96 |
G |
A |
8: 46,409,515 (GRCm39) |
S268L |
probably benign |
Het |
| Chuk |
T |
C |
19: 44,065,812 (GRCm39) |
S661G |
possibly damaging |
Het |
| Col17a1 |
T |
C |
19: 47,639,276 (GRCm39) |
N1090D |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,367,026 (GRCm39) |
|
probably null |
Het |
| Crispld1 |
G |
T |
1: 17,821,024 (GRCm39) |
V355F |
possibly damaging |
Het |
| Cspg4 |
A |
T |
9: 56,806,151 (GRCm39) |
R2321W |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,563,177 (GRCm39) |
T61A |
probably benign |
Het |
| Dnmt3a |
A |
T |
12: 3,951,660 (GRCm39) |
Y679F |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,798,241 (GRCm39) |
|
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,968,381 (GRCm39) |
S217P |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,925,417 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,063,957 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
T |
A |
5: 4,806,278 (GRCm39) |
I435F |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,602,207 (GRCm39) |
V647I |
possibly damaging |
Het |
| Gm14496 |
T |
C |
2: 181,638,002 (GRCm39) |
S359P |
possibly damaging |
Het |
| Gm5218 |
C |
A |
15: 81,383,741 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,579 (GRCm39) |
|
probably null |
Het |
| Hsd17b12 |
G |
T |
2: 93,864,321 (GRCm39) |
T262K |
probably damaging |
Het |
| Igsf10 |
G |
C |
3: 59,237,838 (GRCm39) |
P781R |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,768,207 (GRCm39) |
S373T |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,942,345 (GRCm39) |
D612G |
probably damaging |
Het |
| Ldb1 |
T |
C |
19: 46,022,903 (GRCm39) |
T261A |
probably damaging |
Het |
| Lep |
C |
A |
6: 29,069,089 (GRCm39) |
H47N |
possibly damaging |
Het |
| Lrrtm2 |
A |
T |
18: 35,346,428 (GRCm39) |
S291R |
possibly damaging |
Het |
| Ncor2 |
T |
C |
5: 125,162,062 (GRCm39) |
Q404R |
unknown |
Het |
| Nlrp4d |
T |
C |
7: 10,116,437 (GRCm39) |
H148R |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,093 (GRCm39) |
D570E |
probably benign |
Het |
| Nphp3 |
G |
A |
9: 103,886,413 (GRCm39) |
V202I |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,548,073 (GRCm39) |
N159K |
probably benign |
Het |
| Or4a69 |
T |
A |
2: 89,313,315 (GRCm39) |
T55S |
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,746 (GRCm39) |
V108D |
possibly damaging |
Het |
| Or51f2 |
G |
A |
7: 102,526,980 (GRCm39) |
V218I |
probably benign |
Het |
| Or52a24 |
A |
T |
7: 103,381,585 (GRCm39) |
T151S |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,716 (GRCm39) |
H244L |
probably damaging |
Het |
| Pcolce |
T |
A |
5: 137,608,769 (GRCm39) |
R13* |
probably null |
Het |
| Pdgfra |
A |
G |
5: 75,353,264 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Prima1 |
A |
G |
12: 103,201,854 (GRCm39) |
S74P |
probably damaging |
Het |
| Prl7c1 |
A |
G |
13: 27,962,838 (GRCm39) |
L55P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,658,574 (GRCm39) |
V513A |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,227 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
C |
4: 121,005,488 (GRCm39) |
E1164G |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,354,171 (GRCm39) |
N4016I |
probably damaging |
Het |
| Sae1 |
C |
T |
7: 16,064,537 (GRCm39) |
|
probably null |
Het |
| Serping1 |
A |
T |
2: 84,601,848 (GRCm39) |
D207E |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,380,464 (GRCm39) |
D33E |
unknown |
Het |
| Simc1 |
T |
C |
13: 54,673,071 (GRCm39) |
M473T |
probably benign |
Het |
| Slc30a6 |
T |
A |
17: 74,725,610 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,242,669 (GRCm39) |
L346P |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,596,660 (GRCm39) |
Q1473L |
probably damaging |
Het |
| St3gal3 |
G |
T |
4: 117,817,204 (GRCm39) |
A44D |
possibly damaging |
Het |
| Sv2b |
G |
T |
7: 74,797,425 (GRCm39) |
T323K |
probably damaging |
Het |
| Sycp2 |
T |
A |
2: 177,993,461 (GRCm39) |
N1228I |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,030 (GRCm39) |
M190L |
probably benign |
Het |
| Tnrc6a |
G |
A |
7: 122,776,098 (GRCm39) |
V1190I |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,312,029 (GRCm39) |
I673K |
possibly damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,510,675 (GRCm39) |
V602M |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 64,057,989 (GRCm39) |
I1273L |
probably benign |
Het |
| Zfp618 |
T |
C |
4: 63,051,175 (GRCm39) |
L652P |
probably damaging |
Het |
| Zfp804a |
G |
A |
2: 81,884,095 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ankmy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Ankmy1
|
APN |
1 |
92,813,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01061:Ankmy1
|
APN |
1 |
92,798,696 (GRCm39) |
splice site |
probably benign |
|
|
IGL01960:Ankmy1
|
APN |
1 |
92,799,385 (GRCm39) |
splice site |
probably benign |
|
|
IGL01984:Ankmy1
|
APN |
1 |
92,811,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02193:Ankmy1
|
APN |
1 |
92,808,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02536:Ankmy1
|
APN |
1 |
92,813,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Ankmy1
|
APN |
1 |
92,812,776 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02650:Ankmy1
|
APN |
1 |
92,808,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:Ankmy1
|
APN |
1 |
92,823,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02808:Ankmy1
|
APN |
1 |
92,814,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bali
|
UTSW |
1 |
92,799,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
timor
|
UTSW |
1 |
92,814,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4687001:Ankmy1
|
UTSW |
1 |
92,812,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0313:Ankmy1
|
UTSW |
1 |
92,813,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Ankmy1
|
UTSW |
1 |
92,823,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0383:Ankmy1
|
UTSW |
1 |
92,812,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0499:Ankmy1
|
UTSW |
1 |
92,813,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Ankmy1
|
UTSW |
1 |
92,827,413 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Ankmy1
|
UTSW |
1 |
92,816,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Ankmy1
|
UTSW |
1 |
92,816,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Ankmy1
|
UTSW |
1 |
92,827,290 (GRCm39) |
nonsense |
probably null |
|
|
R1192:Ankmy1
|
UTSW |
1 |
92,811,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1491:Ankmy1
|
UTSW |
1 |
92,814,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1568:Ankmy1
|
UTSW |
1 |
92,808,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Ankmy1
|
UTSW |
1 |
92,816,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Ankmy1
|
UTSW |
1 |
92,812,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1714:Ankmy1
|
UTSW |
1 |
92,812,916 (GRCm39) |
nonsense |
probably null |
|
|
R1818:Ankmy1
|
UTSW |
1 |
92,814,553 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2014:Ankmy1
|
UTSW |
1 |
92,812,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2043:Ankmy1
|
UTSW |
1 |
92,804,249 (GRCm39) |
unclassified |
probably benign |
|
|
R2056:Ankmy1
|
UTSW |
1 |
92,809,553 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2427:Ankmy1
|
UTSW |
1 |
92,798,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3806:Ankmy1
|
UTSW |
1 |
92,811,480 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3883:Ankmy1
|
UTSW |
1 |
92,813,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3884:Ankmy1
|
UTSW |
1 |
92,813,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Ankmy1
|
UTSW |
1 |
92,816,418 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4132:Ankmy1
|
UTSW |
1 |
92,812,822 (GRCm39) |
missense |
probably benign |
|
|
R4441:Ankmy1
|
UTSW |
1 |
92,816,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4543:Ankmy1
|
UTSW |
1 |
92,812,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Ankmy1
|
UTSW |
1 |
92,816,372 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4779:Ankmy1
|
UTSW |
1 |
92,814,445 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5200:Ankmy1
|
UTSW |
1 |
92,798,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5381:Ankmy1
|
UTSW |
1 |
92,804,284 (GRCm39) |
missense |
probably benign |
|
|
R5425:Ankmy1
|
UTSW |
1 |
92,798,679 (GRCm39) |
nonsense |
probably null |
|
|
R5474:Ankmy1
|
UTSW |
1 |
92,812,926 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5534:Ankmy1
|
UTSW |
1 |
92,814,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Ankmy1
|
UTSW |
1 |
92,804,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Ankmy1
|
UTSW |
1 |
92,798,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Ankmy1
|
UTSW |
1 |
92,788,996 (GRCm39) |
unclassified |
probably benign |
|
|
R6376:Ankmy1
|
UTSW |
1 |
92,816,187 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6712:Ankmy1
|
UTSW |
1 |
92,798,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Ankmy1
|
UTSW |
1 |
92,816,173 (GRCm39) |
missense |
probably null |
1.00 |
|
R7201:Ankmy1
|
UTSW |
1 |
92,814,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7432:Ankmy1
|
UTSW |
1 |
92,823,801 (GRCm39) |
missense |
probably benign |
|
|
R7485:Ankmy1
|
UTSW |
1 |
92,804,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7795:Ankmy1
|
UTSW |
1 |
92,811,570 (GRCm39) |
missense |
probably benign |
|
|
R7851:Ankmy1
|
UTSW |
1 |
92,799,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Ankmy1
|
UTSW |
1 |
92,814,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8024:Ankmy1
|
UTSW |
1 |
92,812,716 (GRCm39) |
missense |
probably benign |
|
|
R8276:Ankmy1
|
UTSW |
1 |
92,814,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8350:Ankmy1
|
UTSW |
1 |
92,804,353 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8373:Ankmy1
|
UTSW |
1 |
92,823,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8683:Ankmy1
|
UTSW |
1 |
92,812,972 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9597:Ankmy1
|
UTSW |
1 |
92,804,773 (GRCm39) |
missense |
|
|
|
R9681:Ankmy1
|
UTSW |
1 |
92,813,882 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Ankmy1
|
UTSW |
1 |
92,806,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCCCTTAAAAGGTCCACAACAC -3'
(R):5'- GCAATCGTTGCATCCTGTATGCC -3'
Sequencing Primer
(F):5'- ACCTGCTCCCAGGAAGAGAG -3'
(R):5'- ATCCTGTATGCCTCGGTTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation