Incidental Mutation 'R8350:Ankmy1'
| ID |
660196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
067868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R8350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92804353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 877
(K877E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112998
AA Change: K877E
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: K877E
| 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 |
possibly damaging
Transcript: ENSMUST00000160548
AA Change: K877E
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: K877E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212504
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
T |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
| Adam29 |
A |
G |
8: 56,325,224 (GRCm39) |
V410A |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,850,815 (GRCm39) |
T575A |
probably damaging |
Het |
| Arpin |
A |
T |
7: 79,581,615 (GRCm39) |
I35N |
possibly damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcas1 |
T |
C |
2: 170,248,220 (GRCm39) |
N234D |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,668 (GRCm39) |
G649E |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,322,181 (GRCm39) |
L516Q |
probably damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,512,494 (GRCm39) |
V90L |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,896,552 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Cystm1 |
T |
C |
18: 36,526,303 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,327,231 (GRCm39) |
Q727K |
probably damaging |
Het |
| Dpf3 |
G |
A |
12: 83,397,625 (GRCm39) |
R80C |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,127,667 (GRCm39) |
T882M |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,345,795 (GRCm39) |
K104R |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,793,614 (GRCm39) |
V1172A |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,548 (GRCm39) |
Q120* |
probably null |
Het |
| Grin1 |
G |
A |
2: 25,188,323 (GRCm39) |
R448C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,238,949 (GRCm39) |
P411S |
probably damaging |
Het |
| Irgq |
T |
A |
7: 24,233,165 (GRCm39) |
D335E |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,503,960 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,947 (GRCm39) |
E874G |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,824,973 (GRCm39) |
C1529* |
probably null |
Het |
| Mau2 |
A |
T |
8: 70,495,242 (GRCm39) |
Y32N |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,227,998 (GRCm39) |
N638K |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,200 (GRCm39) |
D1611E |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,805 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,603,688 (GRCm39) |
V138A |
probably damaging |
Het |
| Opcml |
A |
T |
9: 28,813,463 (GRCm39) |
E251D |
probably benign |
Het |
| Or13c7e-ps1 |
T |
A |
4: 43,782,175 (GRCm39) |
I52F |
probably benign |
Het |
| Or1j14 |
T |
A |
2: 36,418,176 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,260 (GRCm39) |
M274L |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,411,901 (GRCm39) |
M1L |
probably benign |
Het |
| Pias1 |
G |
A |
9: 62,859,266 (GRCm39) |
H72Y |
probably damaging |
Het |
| Postn |
G |
A |
3: 54,277,679 (GRCm39) |
V225I |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,353,483 (GRCm39) |
V661A |
probably benign |
Het |
| Ptpn1 |
T |
A |
2: 167,816,161 (GRCm39) |
F225Y |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,868,898 (GRCm39) |
V1425M |
probably damaging |
Het |
| Rbfox1 |
C |
A |
16: 7,094,954 (GRCm39) |
S111R |
probably benign |
Het |
| Rbm24 |
T |
C |
13: 46,572,676 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
G |
4: 121,027,954 (GRCm39) |
K224T |
probably damaging |
Het |
| Scgb2b3 |
G |
A |
7: 31,061,485 (GRCm39) |
L5F |
probably damaging |
Het |
| Sdr42e2 |
T |
C |
7: 120,419,873 (GRCm39) |
L206P |
probably damaging |
Het |
| Serpinb9g |
A |
G |
13: 33,676,854 (GRCm39) |
E212G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,257,146 (GRCm39) |
Y524C |
probably damaging |
Het |
| Sh3pxd2a |
C |
A |
19: 47,258,277 (GRCm39) |
E475D |
probably null |
Het |
| Skil |
A |
G |
3: 31,151,603 (GRCm39) |
T42A |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,311,207 (GRCm39) |
V203A |
probably damaging |
Het |
| Sugp2 |
C |
T |
8: 70,695,641 (GRCm39) |
R205* |
probably null |
Het |
| Tle1 |
C |
A |
4: 72,057,203 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
A |
12: 87,119,660 (GRCm39) |
L318Q |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,717,759 (GRCm39) |
I248V |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,741 (GRCm39) |
C707* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,241,837 (GRCm39) |
G154D |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,355,713 (GRCm39) |
D3491E |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,341,869 (GRCm39) |
L77P |
probably damaging |
Het |
| Zer1 |
C |
T |
2: 29,991,862 (GRCm39) |
E653K |
probably damaging |
Het |
| Zfyve27 |
T |
C |
19: 42,167,911 (GRCm39) |
V151A |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,064 (GRCm39) |
S129C |
probably damaging |
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 |
|
R1585:Ankmy1
|
UTSW |
1 |
92,827,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TCAGATGTGGCTGAGCAGATAG -3'
(R):5'- CCTCACAGTCACATTTCGGAGG -3'
Sequencing Primer
(F):5'- TGTGGCTGAGCAGATAGATGGG -3'
(R):5'- CAGTCACATTTCGGAGGACAGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation