Incidental Mutation 'IGL01971:Ankmy2'
| ID |
182553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankmy2
|
| Ensembl Gene |
ENSMUSG00000036188 |
| Gene Name |
ankyrin repeat and MYND domain containing 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
IGL01971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
36207123-36247290 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 36243792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 336
(K336*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041640]
|
| AlphaFold |
Q3TPE9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041640
AA Change: K336*
|
| SMART Domains |
Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188
AA Change: K336*
| 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: ENSMUST00000220788
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
T |
7: 29,273,987 (GRCm39) |
|
noncoding transcript |
Het |
| Areg |
A |
G |
5: 91,288,870 (GRCm39) |
T59A |
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,304,536 (GRCm39) |
I66V |
probably benign |
Het |
| Atrnl1 |
C |
T |
19: 57,741,715 (GRCm39) |
T1158M |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,064 (GRCm39) |
I409N |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,860,115 (GRCm39) |
T730A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,003,459 (GRCm39) |
R788G |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,034,208 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
G |
A |
8: 125,070,081 (GRCm39) |
V499M |
probably benign |
Het |
| Heca |
A |
G |
10: 17,791,162 (GRCm39) |
F298S |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,768,276 (GRCm39) |
V423E |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,343,321 (GRCm39) |
N1951D |
probably damaging |
Het |
| Osbp |
T |
C |
19: 11,967,999 (GRCm39) |
V636A |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,244,152 (GRCm39) |
T1318A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,271 (GRCm39) |
G538D |
probably damaging |
Het |
| Tpbpa |
A |
T |
13: 61,088,047 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,554,123 (GRCm39) |
V30860A |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,809 (GRCm39) |
|
probably null |
Het |
| Utp23 |
C |
A |
15: 51,745,671 (GRCm39) |
A57E |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,321,981 (GRCm39) |
M239V |
probably benign |
Het |
|
| Other mutations in Ankmy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1304:Ankmy2
|
UTSW |
12 |
36,236,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation