Incidental Mutation 'R1714:Ankmy1'
| ID |
190828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
039747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R1714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 92812916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 464
(Y464*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112998
AA Change: Y464*
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: Y464*
| 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 null
Transcript: ENSMUST00000160548
AA Change: Y464*
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: Y464*
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,464,479 (GRCm39) |
T892I |
possibly damaging |
Het |
| Abcb11 |
A |
C |
2: 69,136,925 (GRCm39) |
F179V |
probably damaging |
Het |
| Adgrg6 |
G |
T |
10: 14,315,514 (GRCm39) |
Q597K |
possibly damaging |
Het |
| Apba1 |
G |
A |
19: 23,922,316 (GRCm39) |
E795K |
possibly damaging |
Het |
| Aqp12 |
T |
A |
1: 92,934,681 (GRCm39) |
V186D |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,631,112 (GRCm39) |
S2R |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,760,853 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
C |
T |
11: 51,171,245 (GRCm39) |
H219Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,984,559 (GRCm39) |
Y417H |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,833,994 (GRCm39) |
F932I |
possibly damaging |
Het |
| Cxxc1 |
C |
A |
18: 74,352,934 (GRCm39) |
R415S |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,813,400 (GRCm39) |
A182V |
probably benign |
Het |
| Ddx11 |
T |
G |
17: 66,455,754 (GRCm39) |
W718G |
probably damaging |
Het |
| Dmd |
A |
C |
X: 83,008,356 (GRCm39) |
T2069P |
probably benign |
Het |
| Dnai1 |
T |
C |
4: 41,632,164 (GRCm39) |
F533L |
probably benign |
Het |
| Dnajc5b |
A |
T |
3: 19,633,265 (GRCm39) |
R163* |
probably null |
Het |
| Dynll2 |
T |
A |
11: 87,874,838 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
A |
G |
1: 44,206,499 (GRCm39) |
T471A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,016,435 (GRCm39) |
D563G |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,766,658 (GRCm39) |
Y6C |
probably damaging |
Het |
| Fcrl5 |
T |
A |
3: 87,353,713 (GRCm39) |
S353T |
probably damaging |
Het |
| Gabrb3 |
A |
T |
7: 57,415,176 (GRCm39) |
Y82F |
probably damaging |
Het |
| Gm20939 |
C |
A |
17: 95,183,234 (GRCm39) |
P157T |
probably damaging |
Het |
| H2bc1 |
T |
C |
13: 24,117,935 (GRCm39) |
T69A |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,321,041 (GRCm39) |
H468Q |
probably benign |
Het |
| Il20ra |
T |
C |
10: 19,631,576 (GRCm39) |
V259A |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,414 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,871,912 (GRCm39) |
S586P |
probably benign |
Het |
| Kl |
A |
T |
5: 150,876,798 (GRCm39) |
Y206F |
probably benign |
Het |
| Klk1b24 |
C |
A |
7: 43,840,939 (GRCm39) |
D122E |
probably damaging |
Het |
| Kmt2d |
A |
C |
15: 98,760,831 (GRCm39) |
S840A |
unknown |
Het |
| Krt34 |
A |
G |
11: 99,930,953 (GRCm39) |
S150P |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,830,769 (GRCm39) |
K1502R |
probably benign |
Het |
| Letm1 |
G |
T |
5: 33,918,228 (GRCm39) |
R306S |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,768,398 (GRCm39) |
G397S |
probably null |
Het |
| Lrrc8c |
A |
G |
5: 105,755,157 (GRCm39) |
T311A |
possibly damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,198 (GRCm39) |
D552V |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,054,232 (GRCm39) |
|
probably null |
Het |
| Ndufa9 |
T |
C |
6: 126,799,154 (GRCm39) |
|
probably null |
Het |
| Or4e5 |
A |
C |
14: 52,727,871 (GRCm39) |
|
probably null |
Het |
| Or4f4b |
A |
T |
2: 111,314,008 (GRCm39) |
I78F |
probably damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,614 (GRCm39) |
C141Y |
probably damaging |
Het |
| Polr3d |
A |
C |
14: 70,678,755 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ppp5c |
T |
C |
7: 16,742,628 (GRCm39) |
I237V |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,504,945 (GRCm39) |
T2632M |
probably damaging |
Het |
| Ptprg |
C |
A |
14: 12,213,697 (GRCm38) |
Q1022K |
probably damaging |
Het |
| Pus10 |
T |
A |
11: 23,675,542 (GRCm39) |
H471Q |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,689,174 (GRCm39) |
V1928A |
probably damaging |
Het |
| Rbpms2 |
CACT |
CACTACT |
9: 65,558,947 (GRCm39) |
|
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
T |
G |
7: 5,113,357 (GRCm39) |
T269P |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 128,004,946 (GRCm39) |
V72A |
probably damaging |
Het |
| Rsph1 |
T |
C |
17: 31,474,190 (GRCm39) |
N289S |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,966,121 (GRCm39) |
D21G |
probably benign |
Het |
| Shbg |
A |
T |
11: 69,507,983 (GRCm39) |
D127E |
possibly damaging |
Het |
| Spag16 |
A |
G |
1: 69,882,164 (GRCm39) |
E52G |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,344,850 (GRCm39) |
G945D |
possibly damaging |
Het |
| Sstr3 |
A |
T |
15: 78,424,473 (GRCm39) |
D91E |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,101,713 (GRCm39) |
A669E |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,208,907 (GRCm39) |
I109V |
probably benign |
Het |
| Ube2j1 |
A |
G |
4: 33,049,886 (GRCm39) |
T295A |
probably damaging |
Het |
| Usp46 |
A |
G |
5: 74,163,828 (GRCm39) |
V276A |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,640 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ydjc |
G |
A |
16: 16,965,663 (GRCm39) |
V143M |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,652,330 (GRCm39) |
E29G |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,808,935 (GRCm39) |
S1370P |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,238,591 (GRCm39) |
D185N |
probably damaging |
Het |
| Zfp827 |
A |
T |
8: 79,787,202 (GRCm39) |
N123Y |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,442 (GRCm39) |
I89N |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,080,583 (GRCm39) |
L419P |
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 |
|
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 |
|
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'- TAGTTCCGCAGGCACTTGGTAGAC -3'
(R):5'- GTGACTTCAGAATTGTCCCTGCCC -3'
Sequencing Primer
(F):5'- GACTCGAAATTTGTATCGACGCTG -3'
(R):5'- TAAACTGTGAAGGAACTCTGTGC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation