Incidental Mutation 'R1304:Ankmy2'
| ID |
157756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy2
|
| Ensembl Gene |
ENSMUSG00000036188 |
| Gene Name |
ankyrin repeat and MYND domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
039370-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
R1304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
36207123-36247290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 36236804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 204
(I204S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041640]
|
| AlphaFold |
Q3TPE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041640
AA Change: I204S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188
AA Change: I204S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
45 |
74 |
1.1e-6 |
SMART |
|
ANK
|
79 |
108 |
7.83e-3 |
SMART |
|
ANK
|
112 |
143 |
9.33e2 |
SMART |
|
Pfam:zf-MYND
|
320 |
357 |
6.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220788
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh12 |
T |
G |
15: 21,584,023 (GRCm39) |
L621R |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,818,414 (GRCm39) |
I3308T |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,102,318 (GRCm39) |
L454P |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,430,532 (GRCm39) |
E53G |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,501,291 (GRCm39) |
|
probably benign |
Het |
| Lyst |
C |
A |
13: 13,926,569 (GRCm39) |
Y3458* |
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or12e13 |
C |
T |
2: 87,664,049 (GRCm39) |
T222I |
possibly damaging |
Het |
| Or9g4 |
T |
C |
2: 85,504,682 (GRCm39) |
D271G |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,391,364 (GRCm39) |
T570A |
probably damaging |
Het |
| Plekha1 |
A |
G |
7: 130,503,949 (GRCm39) |
T219A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,577,587 (GRCm39) |
F2380L |
probably damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,140,300 (GRCm39) |
K151* |
probably null |
Het |
| Tmem241 |
A |
G |
18: 12,203,135 (GRCm39) |
|
probably null |
Het |
| Zfp607a |
C |
A |
7: 27,565,000 (GRCm39) |
R56S |
probably benign |
Het |
|
| Other mutations in Ankmy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01971:Ankmy2
|
APN |
12 |
36,243,792 (GRCm39) |
nonsense |
probably null |
|
|
IGL02588:Ankmy2
|
APN |
12 |
36,226,685 (GRCm39) |
splice site |
probably benign |
|
|
IGL02975:Ankmy2
|
APN |
12 |
36,243,773 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03076:Ankmy2
|
APN |
12 |
36,215,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Concise
|
UTSW |
12 |
36,243,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
7510:Ankmy2
|
UTSW |
12 |
36,207,411 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4520001:Ankmy2
|
UTSW |
12 |
36,207,390 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0135:Ankmy2
|
UTSW |
12 |
36,220,434 (GRCm39) |
splice site |
probably benign |
|
|
R0319:Ankmy2
|
UTSW |
12 |
36,215,898 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0347:Ankmy2
|
UTSW |
12 |
36,243,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Ankmy2
|
UTSW |
12 |
36,232,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0557:Ankmy2
|
UTSW |
12 |
36,237,765 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1397:Ankmy2
|
UTSW |
12 |
36,220,440 (GRCm39) |
splice site |
probably benign |
|
|
R1572:Ankmy2
|
UTSW |
12 |
36,236,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1674:Ankmy2
|
UTSW |
12 |
36,237,668 (GRCm39) |
missense |
probably benign |
|
|
R1874:Ankmy2
|
UTSW |
12 |
36,215,930 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1887:Ankmy2
|
UTSW |
12 |
36,220,467 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1985:Ankmy2
|
UTSW |
12 |
36,207,363 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1996:Ankmy2
|
UTSW |
12 |
36,243,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4964:Ankmy2
|
UTSW |
12 |
36,236,917 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5534:Ankmy2
|
UTSW |
12 |
36,232,491 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5606:Ankmy2
|
UTSW |
12 |
36,215,920 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5614:Ankmy2
|
UTSW |
12 |
36,243,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Ankmy2
|
UTSW |
12 |
36,226,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6427:Ankmy2
|
UTSW |
12 |
36,237,710 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7065:Ankmy2
|
UTSW |
12 |
36,237,707 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7135:Ankmy2
|
UTSW |
12 |
36,246,311 (GRCm39) |
missense |
probably benign |
|
|
R7705:Ankmy2
|
UTSW |
12 |
36,245,107 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7721:Ankmy2
|
UTSW |
12 |
36,207,143 (GRCm39) |
unclassified |
probably benign |
|
|
R8492:Ankmy2
|
UTSW |
12 |
36,226,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Ankmy2
|
UTSW |
12 |
36,236,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ankmy2
|
UTSW |
12 |
36,236,858 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTAGCAAACTGCCTTCTGAC -3'
(R):5'- CTGGGAGACTAAACGTGACTCCAAC -3'
Sequencing Primer
(F):5'- CCCGTGATTCTAAGAATAACCTGG -3'
(R):5'- TCCGATAAGGCATCTTGAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation