Incidental Mutation 'R5381:Ankmy1'
| ID |
424692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
042956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5381 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92804284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 900
(T900A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112998
AA Change: T900A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: T900A
| 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 benign
Transcript: ENSMUST00000160548
AA Change: T900A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: T900A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212504
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
G |
T |
11: 65,044,137 (GRCm39) |
S19* |
probably null |
Het |
| 4930432E11Rik |
A |
T |
7: 29,262,393 (GRCm39) |
|
noncoding transcript |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Anp32a |
A |
C |
9: 62,279,459 (GRCm39) |
E107A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,229,306 (GRCm39) |
I623T |
probably damaging |
Het |
| Camsap3 |
T |
A |
8: 3,653,812 (GRCm39) |
I483N |
probably damaging |
Het |
| Card9 |
G |
A |
2: 26,248,895 (GRCm39) |
L85F |
probably damaging |
Het |
| Cbfa2t2 |
T |
G |
2: 154,365,849 (GRCm39) |
V353G |
probably damaging |
Het |
| Ccdc166 |
A |
T |
15: 75,852,701 (GRCm39) |
L422* |
probably null |
Het |
| Ccdc198 |
T |
C |
14: 49,470,364 (GRCm39) |
D185G |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,820,270 (GRCm39) |
N416Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,310,073 (GRCm39) |
D1552E |
probably damaging |
Het |
| Ces1b |
A |
T |
8: 93,791,647 (GRCm39) |
N317K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,703,334 (GRCm39) |
R2471G |
unknown |
Het |
| Crocc |
C |
T |
4: 140,756,622 (GRCm39) |
R1165H |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,604,611 (GRCm39) |
Y1955F |
probably benign |
Het |
| Ctbp1 |
A |
T |
5: 33,407,034 (GRCm39) |
D232E |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,078,812 (GRCm39) |
|
probably null |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
G |
A |
10: 99,102,129 (GRCm39) |
V226I |
possibly damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,516 (GRCm39) |
E19G |
probably damaging |
Het |
| Ighv16-1 |
T |
C |
12: 114,032,593 (GRCm39) |
T70A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Il12b |
C |
A |
11: 44,298,699 (GRCm39) |
D51E |
possibly damaging |
Het |
| Il9r |
T |
G |
11: 32,140,715 (GRCm39) |
D435A |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,715,025 (GRCm39) |
D167G |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,572,397 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lactb |
A |
G |
9: 66,863,297 (GRCm39) |
L439P |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,660,969 (GRCm39) |
|
probably benign |
Het |
| Lgals1 |
A |
G |
15: 78,814,223 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp8 |
A |
T |
4: 107,726,307 (GRCm39) |
H871L |
probably damaging |
Het |
| Mfap4 |
A |
T |
11: 61,378,756 (GRCm39) |
I235F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,217,836 (GRCm39) |
T2279I |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,172 (GRCm39) |
Y91* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,655,593 (GRCm39) |
Y383H |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Palb2 |
G |
T |
7: 121,727,636 (GRCm39) |
T78K |
probably benign |
Het |
| Panx2 |
G |
T |
15: 88,944,433 (GRCm39) |
V53L |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,495 (GRCm39) |
E161G |
probably benign |
Het |
| Pitx1 |
T |
C |
13: 55,973,892 (GRCm39) |
Y313C |
probably damaging |
Het |
| Pjvk |
A |
G |
2: 76,481,904 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
T |
G |
17: 13,109,283 (GRCm39) |
K439T |
probably benign |
Het |
| Ppp4r4 |
A |
C |
12: 103,559,357 (GRCm39) |
T513P |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,600 (GRCm39) |
Q389L |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,204 (GRCm39) |
|
probably benign |
Het |
| Prkch |
C |
A |
12: 73,738,366 (GRCm39) |
R158S |
probably damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
| Rad51c |
A |
T |
11: 87,288,459 (GRCm39) |
D241E |
probably benign |
Het |
| Rara |
T |
G |
11: 98,862,410 (GRCm39) |
I270M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,571,544 (GRCm39) |
D4898V |
probably damaging |
Het |
| Sec31b |
C |
T |
19: 44,522,810 (GRCm39) |
G218S |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,149,382 (GRCm39) |
L736Q |
probably damaging |
Het |
| Slco2a1 |
A |
T |
9: 102,945,213 (GRCm39) |
D196V |
probably damaging |
Het |
| Sp3 |
C |
A |
2: 72,800,910 (GRCm39) |
A368S |
probably benign |
Het |
| Stk24 |
A |
T |
14: 121,531,645 (GRCm39) |
L337Q |
possibly damaging |
Het |
| Tbc1d13 |
A |
G |
2: 30,027,379 (GRCm39) |
T96A |
probably benign |
Het |
| Tm2d3 |
G |
A |
7: 65,351,420 (GRCm39) |
G225S |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,651 (GRCm39) |
V786A |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,949,953 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
C |
T |
14: 20,636,144 (GRCm39) |
G300D |
probably damaging |
Het |
| Vmn1r124 |
T |
A |
7: 20,994,323 (GRCm39) |
N74Y |
probably damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,952 (GRCm39) |
C175S |
probably damaging |
Het |
| Vmn2r62 |
G |
T |
7: 42,437,219 (GRCm39) |
Q422K |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,874,496 (GRCm39) |
F827S |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,177,275 (GRCm39) |
S106G |
possibly damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zic2 |
A |
G |
14: 122,713,227 (GRCm39) |
N47S |
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 |
|
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 |
|
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'- GCGACTGCTGTGATAGAGAG -3'
(R):5'- GGACTCATTGTGACCCTGTAC -3'
Sequencing Primer
(F):5'- CTGCTGTGATAGAGAGGCAGACTG -3'
(R):5'- GTGACCCTGTACCCTGTCACAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation