Incidental Mutation 'R9681:Ankmy1'
| ID |
728523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 92813882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 432
(N432K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112998
AA Change: N432K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: N432K
| 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 |
possibly damaging
Transcript: ENSMUST00000160548
AA Change: N432K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: N432K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
A |
G |
6: 72,324,450 (GRCm39) |
D20G |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,566,082 (GRCm39) |
Y258* |
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,498 (GRCm39) |
H34L |
|
Het |
| Ano1 |
A |
G |
7: 144,143,893 (GRCm39) |
M966T |
possibly damaging |
Het |
| Ark2n |
A |
T |
18: 77,722,989 (GRCm39) |
V349D |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,662 (GRCm39) |
T83A |
probably benign |
Het |
| Cdk1 |
T |
A |
10: 69,178,449 (GRCm39) |
D137V |
possibly damaging |
Het |
| Cfap299 |
T |
A |
5: 98,477,214 (GRCm39) |
M1K |
probably null |
Het |
| Chia1 |
A |
G |
3: 106,037,996 (GRCm39) |
Y326C |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,974 (GRCm39) |
D295G |
possibly damaging |
Het |
| Clrn1 |
C |
T |
3: 58,792,251 (GRCm39) |
V71I |
probably benign |
Het |
| Cr1l |
T |
C |
1: 194,800,149 (GRCm39) |
D175G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,268,067 (GRCm39) |
V87E |
probably damaging |
Het |
| Cyp2b19 |
T |
A |
7: 26,466,328 (GRCm39) |
L377Q |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,125,679 (GRCm39) |
V243D |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,562,414 (GRCm39) |
V2658A |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,677,611 (GRCm39) |
M437L |
probably benign |
Het |
| Flrt2 |
T |
A |
12: 95,745,425 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,880 (GRCm39) |
C80* |
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,831,315 (GRCm39) |
E805G |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,479,473 (GRCm39) |
E134G |
probably benign |
Het |
| Hdac11 |
T |
A |
6: 91,150,068 (GRCm39) |
V289D |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,081 (GRCm39) |
E118G |
possibly damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,041,858 (GRCm39) |
L1095Q |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,528,749 (GRCm39) |
C65S |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Itsn2 |
G |
T |
12: 4,683,499 (GRCm39) |
V341F |
unknown |
Het |
| Jak1 |
G |
A |
4: 101,019,085 (GRCm39) |
R723C |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,345,903 (GRCm39) |
C561S |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,750,097 (GRCm39) |
F1085L |
possibly damaging |
Het |
| Mcm7 |
A |
T |
5: 138,164,220 (GRCm39) |
Y600* |
probably null |
Het |
| Mecom |
A |
T |
3: 30,033,803 (GRCm39) |
D300E |
probably benign |
Het |
| Mfap4 |
T |
A |
11: 61,376,925 (GRCm39) |
Y51* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,833,254 (GRCm39) |
N286K |
probably benign |
Het |
| Myl2 |
A |
T |
5: 122,240,783 (GRCm39) |
R40* |
probably null |
Het |
| Nom1 |
A |
G |
5: 29,642,623 (GRCm39) |
S375G |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,598,133 (GRCm39) |
P368Q |
probably null |
Het |
| Oca2 |
G |
C |
7: 55,943,623 (GRCm39) |
Q265H |
probably null |
Het |
| Or52a20 |
T |
A |
7: 103,366,475 (GRCm39) |
F225I |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or5k8 |
T |
A |
16: 58,644,176 (GRCm39) |
N299Y |
possibly damaging |
Het |
| Or6c88 |
A |
T |
10: 129,406,664 (GRCm39) |
T47S |
probably damaging |
Het |
| Or7a41 |
G |
A |
10: 78,871,577 (GRCm39) |
D316N |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,717,120 (GRCm39) |
E459G |
probably benign |
Het |
| Pde1a |
G |
T |
2: 79,695,465 (GRCm39) |
A494D |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,808,587 (GRCm39) |
Y428C |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,254,391 (GRCm39) |
F59L |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,258,950 (GRCm39) |
V980A |
possibly damaging |
Het |
| Polb |
T |
C |
8: 23,118,346 (GRCm39) |
D318G |
possibly damaging |
Het |
| Rasgef1c |
T |
A |
11: 49,861,040 (GRCm39) |
M335K |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,849,687 (GRCm39) |
S651P |
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,334,558 (GRCm39) |
I624S |
possibly damaging |
Het |
| Robo3 |
T |
A |
9: 37,339,087 (GRCm39) |
H290L |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,183,599 (GRCm39) |
H482R |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,681,691 (GRCm39) |
E168V |
probably benign |
Het |
| Slc3a2 |
T |
C |
19: 8,691,226 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,102,723 (GRCm39) |
K54* |
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,988,258 (GRCm39) |
L483P |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,084,959 (GRCm39) |
N1793I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,612,723 (GRCm39) |
I17119V |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,274,500 (GRCm39) |
L617P |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,625,083 (GRCm39) |
N542S |
possibly damaging |
Het |
| Vmn1r151 |
T |
A |
7: 22,198,368 (GRCm39) |
T246S |
probably damaging |
Het |
| Vmn1r57 |
T |
A |
7: 5,224,069 (GRCm39) |
V198E |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,889 (GRCm39) |
Q191L |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,403,356 (GRCm39) |
T39M |
possibly damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,470 (GRCm39) |
R537L |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,793,680 (GRCm39) |
V22E |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,493,112 (GRCm39) |
L218P |
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 |
|
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 |
|
|
|
Z1176:Ankmy1
|
UTSW |
1 |
92,806,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGAATGGCTCAGGATGC -3'
(R):5'- TGTCTGCTGAGGGCTATCTC -3'
Sequencing Primer
(F):5'- AATGGCTCAGGATGCTTCTG -3'
(R):5'- AGGGCTATCTCCTGTGTTCATGTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation