Incidental Mutation 'R1568:Ankmy1'
ID |
175392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankmy1
|
Ensembl Gene |
ENSMUSG00000034212 |
Gene Name |
ankyrin repeat and MYND domain containing 1 |
Synonyms |
4930483I10Rik |
MMRRC Submission |
039607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R1568 (G1)
|
Quality Score |
103 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92808838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 690
(D690G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112998
AA Change: D690G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108622 Gene: ENSMUSG00000034212 AA Change: D690G
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 damaging
Transcript: ENSMUST00000160548
AA Change: D690G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123787 Gene: ENSMUSG00000034212 AA Change: D690G
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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
G |
8: 25,137,799 (GRCm39) |
|
probably null |
Het |
Adgb |
A |
T |
10: 10,318,409 (GRCm39) |
Y138* |
probably null |
Het |
Adra1d |
T |
C |
2: 131,388,092 (GRCm39) |
R488G |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,979,739 (GRCm39) |
G341E |
probably damaging |
Het |
Arhgef38 |
C |
T |
3: 132,838,225 (GRCm39) |
E21K |
probably damaging |
Het |
Atp8b2 |
T |
C |
3: 89,857,155 (GRCm39) |
M402V |
probably damaging |
Het |
Atp8b4 |
G |
T |
2: 126,167,314 (GRCm39) |
H1062N |
probably benign |
Het |
Bdnf |
A |
G |
2: 109,554,139 (GRCm39) |
H131R |
probably damaging |
Het |
Cblb |
C |
T |
16: 51,956,192 (GRCm39) |
T265M |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,945,519 (GRCm39) |
M1011K |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,781,410 (GRCm39) |
Y711* |
probably null |
Het |
Clca4a |
A |
G |
3: 144,658,690 (GRCm39) |
Y842H |
probably benign |
Het |
Clspn |
T |
A |
4: 126,475,310 (GRCm39) |
M1021K |
probably benign |
Het |
Cpne8 |
G |
T |
15: 90,503,845 (GRCm39) |
R107S |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,359,123 (GRCm39) |
I298T |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,157,553 (GRCm39) |
K858R |
probably null |
Het |
Fasn |
A |
T |
11: 120,704,075 (GRCm39) |
V1448E |
possibly damaging |
Het |
Ghdc |
A |
G |
11: 100,659,331 (GRCm39) |
I322T |
probably benign |
Het |
Gins2 |
T |
C |
8: 121,308,939 (GRCm39) |
D105G |
probably damaging |
Het |
Insr |
A |
T |
8: 3,215,576 (GRCm39) |
D975E |
probably benign |
Het |
Klrc3 |
T |
C |
6: 129,616,510 (GRCm39) |
D169G |
probably benign |
Het |
Krt76 |
T |
A |
15: 101,793,443 (GRCm39) |
S532C |
unknown |
Het |
Lamp3 |
A |
T |
16: 19,492,275 (GRCm39) |
M323K |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,360,868 (GRCm39) |
I423M |
possibly damaging |
Het |
Lpgat1 |
A |
T |
1: 191,508,538 (GRCm39) |
T359S |
possibly damaging |
Het |
Lrguk |
T |
A |
6: 34,063,373 (GRCm39) |
I466N |
probably damaging |
Het |
Magi3 |
A |
C |
3: 103,996,843 (GRCm39) |
M234R |
probably benign |
Het |
Myh14 |
G |
A |
7: 44,261,122 (GRCm39) |
R1042* |
probably null |
Het |
Nfia |
T |
G |
4: 97,999,461 (GRCm39) |
Y378D |
possibly damaging |
Het |
Npffr1 |
T |
A |
10: 61,462,012 (GRCm39) |
S383T |
possibly damaging |
Het |
Or4f57 |
C |
A |
2: 111,790,585 (GRCm39) |
V278F |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,293,977 (GRCm39) |
I199F |
probably benign |
Het |
Or5b112 |
C |
A |
19: 13,319,539 (GRCm39) |
P139Q |
probably benign |
Het |
Or9s14 |
T |
C |
1: 92,535,676 (GRCm39) |
L39P |
probably damaging |
Het |
Osr1 |
G |
A |
12: 9,629,798 (GRCm39) |
|
probably null |
Het |
Pde4b |
A |
C |
4: 102,454,896 (GRCm39) |
R375S |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,942,011 (GRCm39) |
E150G |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,408,897 (GRCm39) |
|
probably null |
Het |
Ppp3ca |
A |
G |
3: 136,634,305 (GRCm39) |
T422A |
probably benign |
Het |
Proser1 |
T |
C |
3: 53,385,180 (GRCm39) |
V354A |
possibly damaging |
Het |
Rgs20 |
G |
T |
1: 5,091,050 (GRCm39) |
R127S |
probably benign |
Het |
Sanbr |
T |
C |
11: 23,539,971 (GRCm39) |
K48E |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,167,998 (GRCm39) |
D171G |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,827,143 (GRCm39) |
E417G |
possibly damaging |
Het |
Serpinb6b |
T |
C |
13: 33,158,895 (GRCm39) |
L32S |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc39a10 |
A |
T |
1: 46,865,375 (GRCm39) |
S487T |
probably benign |
Het |
Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,737,925 (GRCm39) |
D265G |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,724,950 (GRCm39) |
T77A |
probably benign |
Het |
Sybu |
G |
T |
15: 44,582,228 (GRCm39) |
S132* |
probably null |
Het |
Virma |
T |
C |
4: 11,528,776 (GRCm39) |
S1288P |
probably damaging |
Het |
Vmn1r229 |
T |
A |
17: 21,035,067 (GRCm39) |
V104D |
probably damaging |
Het |
Vmn1r238 |
T |
C |
18: 3,123,358 (GRCm39) |
T19A |
probably benign |
Het |
Vmn2r86 |
C |
T |
10: 130,289,010 (GRCm39) |
V164I |
probably benign |
Het |
Wfdc13 |
G |
T |
2: 164,528,854 (GRCm39) |
A64S |
probably damaging |
Het |
Zfp873 |
C |
A |
10: 81,896,113 (GRCm39) |
H318Q |
probably damaging |
Het |
Zyg11a |
A |
G |
4: 108,040,843 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- AGCCAACTTCTCAAGTTGTGACGAG -3'
(R):5'- CACAGTAAAACAGGTTTGGTGGTGC -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- tggtggtgcttgcctttg -3'
|
Posted On |
2014-04-24 |