Incidental Mutation 'R8276:Ankmy1'
| ID |
637963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
067699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R8276 (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 92814531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 325
(I325M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(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: I325M
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: I325M
| 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: I325M
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: I325M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,385,885 (GRCm39) |
R27W |
probably damaging |
Het |
| Acbd5 |
A |
G |
2: 22,959,563 (GRCm39) |
D39G |
probably benign |
Het |
| Amdhd2 |
C |
G |
17: 24,382,574 (GRCm39) |
R22P |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,461,556 (GRCm39) |
I664M |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,179,614 (GRCm39) |
M716T |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,505,998 (GRCm39) |
T1743S |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,399,092 (GRCm39) |
S947P |
probably benign |
Het |
| Ep300 |
C |
G |
15: 81,534,229 (GRCm39) |
N2095K |
possibly damaging |
Het |
| Evi2a |
T |
A |
11: 79,418,316 (GRCm39) |
N98I |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Far2 |
G |
T |
6: 148,075,399 (GRCm39) |
V420L |
probably benign |
Het |
| Gng5 |
A |
G |
3: 146,206,258 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,098,968 (GRCm39) |
R1311* |
probably null |
Het |
| Hhipl2 |
A |
T |
1: 183,217,328 (GRCm39) |
K478M |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,146 (GRCm39) |
Y166N |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,674,318 (GRCm39) |
S693R |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,536,572 (GRCm39) |
L52P |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,751,880 (GRCm39) |
I254T |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,943,273 (GRCm39) |
K1644R |
possibly damaging |
Het |
| Nherf2 |
G |
T |
17: 24,861,234 (GRCm39) |
Y175* |
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,320,494 (GRCm39) |
T881M |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,948,287 (GRCm39) |
S167T |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,202,522 (GRCm39) |
Y132F |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,506,484 (GRCm39) |
G1026D |
probably damaging |
Het |
| Rbm46 |
A |
G |
3: 82,771,895 (GRCm39) |
V240A |
probably damaging |
Het |
| Rrm1 |
G |
A |
7: 102,110,059 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,470,962 (GRCm39) |
D4637G |
probably damaging |
Het |
| Selenos |
G |
A |
7: 65,729,552 (GRCm39) |
|
probably benign |
Het |
| Serpina1e |
G |
T |
12: 103,913,428 (GRCm39) |
T364K |
probably damaging |
Het |
| Shroom3 |
A |
T |
5: 93,088,339 (GRCm39) |
Q363L |
probably damaging |
Het |
| Slc9b1 |
A |
C |
3: 135,077,658 (GRCm39) |
E139D |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,993,544 (GRCm39) |
|
probably benign |
Het |
| Tmcc3 |
A |
T |
10: 94,418,170 (GRCm39) |
T344S |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,918 (GRCm39) |
S807T |
probably benign |
Het |
| Trav7-6 |
A |
T |
14: 53,954,695 (GRCm39) |
H95L |
probably benign |
Het |
| Trmu |
T |
A |
15: 85,766,932 (GRCm39) |
V47D |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,290,509 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 102,968,122 (GRCm39) |
D116G |
possibly damaging |
Het |
| Vmn2r93 |
G |
A |
17: 18,525,649 (GRCm39) |
|
probably null |
Het |
| Zfp541 |
A |
T |
7: 15,813,009 (GRCm39) |
H554L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,193 (GRCm39) |
H658R |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,948,051 (GRCm39) |
Y107N |
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 |
|
|
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'- AGCACAGTGTAACCCTTGGAG -3'
(R):5'- ATCCTGATTGTAACTGACTGGC -3'
Sequencing Primer
(F):5'- ACAGTGTAACCCTTGGAGTCAGC -3'
(R):5'- GCAGAGTAGCCATTGGGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation