Incidental Mutation 'R1397:Ankmy2'
| ID |
160192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy2
|
| Ensembl Gene |
ENSMUSG00000036188 |
| Gene Name |
ankyrin repeat and MYND domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
039459-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
R1397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
36207123-36247290 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 36220440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041640]
|
| AlphaFold |
Q3TPE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041640
|
| SMART Domains |
Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221263
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,504,733 (GRCm39) |
E1222G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arhgef10l |
C |
T |
4: 140,271,754 (GRCm39) |
G827D |
probably damaging |
Het |
| Chrac1 |
A |
G |
15: 72,962,293 (GRCm39) |
D3G |
possibly damaging |
Het |
| Dmrtb1 |
G |
C |
4: 107,534,236 (GRCm39) |
P349R |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,573 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,569,343 (GRCm39) |
|
probably null |
Het |
| Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,651,862 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,245,618 (GRCm39) |
D569V |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,083,464 (GRCm39) |
L189Q |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,274 (GRCm39) |
S130P |
probably benign |
Het |
| Nid1 |
G |
A |
13: 13,683,380 (GRCm39) |
A1153T |
possibly damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,126,745 (GRCm39) |
I78T |
probably benign |
Het |
| Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
| Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,585,496 (GRCm39) |
S18P |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
| Rabl3 |
C |
T |
16: 37,360,336 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,155,753 (GRCm39) |
V66I |
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,325,308 (GRCm39) |
G367E |
probably benign |
Het |
| Rnpepl1 |
C |
A |
1: 92,844,881 (GRCm39) |
T391N |
probably damaging |
Het |
| Rnps1 |
C |
T |
17: 24,631,031 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Slc25a48 |
A |
C |
13: 56,612,864 (GRCm39) |
D254A |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,852,853 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
C |
4: 135,048,742 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,523 (GRCm39) |
V247A |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,857,901 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,750 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,247,674 (GRCm39) |
I341F |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,698,801 (GRCm39) |
F10S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,867,406 (GRCm39) |
W369R |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,867,904 (GRCm39) |
R1976H |
probably damaging |
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 |
|
R1304:Ankmy2
|
UTSW |
12 |
36,236,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGAGATGAGGACTTCAGGCTGCTA -3'
(R):5'- ACTTTACCGGAAAGCGCAGCAA -3'
Sequencing Primer
(F):5'- GACTTCAGGCTGCTAGGTTC -3'
(R):5'- CAAACATGAGGGCTGTGTACC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation