Incidental Mutation 'R5425:Ankmy1'
| ID |
426793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
042991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5425 (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 92798679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 20
(Y20*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112998]
[ENSMUST00000160548]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112998
AA Change: Y937*
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: Y937*
| 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: Y938*
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: Y938*
| 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 null
Transcript: ENSMUST00000212504
AA Change: Y20*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,864,254 (GRCm39) |
E465G |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Aida |
T |
A |
1: 183,103,201 (GRCm39) |
C174S |
possibly damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,160,286 (GRCm39) |
R104H |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,104,407 (GRCm39) |
L98P |
probably benign |
Het |
| Arhgap9 |
C |
A |
10: 127,162,287 (GRCm39) |
N314K |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,417,119 (GRCm39) |
Y427H |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Bola3 |
G |
T |
6: 83,326,534 (GRCm39) |
G18W |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,731,334 (GRCm39) |
T138A |
probably benign |
Het |
| Castor1 |
T |
A |
11: 4,171,689 (GRCm39) |
H304Q |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,127,580 (GRCm39) |
Y53H |
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,926,002 (GRCm39) |
D239V |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 94,052,428 (GRCm39) |
Q287L |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,885,371 (GRCm39) |
A415T |
possibly damaging |
Het |
| Cfap74 |
A |
G |
4: 155,540,149 (GRCm39) |
|
probably benign |
Het |
| Crnn |
A |
G |
3: 93,056,456 (GRCm39) |
K414R |
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,656,212 (GRCm39) |
L273P |
possibly damaging |
Het |
| Dab2ip |
T |
G |
2: 35,600,003 (GRCm39) |
H206Q |
probably benign |
Het |
| Dipk2a |
T |
C |
9: 94,419,745 (GRCm39) |
S62G |
probably damaging |
Het |
| Diras2 |
A |
G |
13: 52,662,083 (GRCm39) |
S75P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,218,831 (GRCm39) |
V1757A |
probably benign |
Het |
| Dus4l |
A |
T |
12: 31,690,807 (GRCm39) |
H281Q |
probably damaging |
Het |
| Faah |
A |
T |
4: 115,857,993 (GRCm39) |
M436K |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,478,922 (GRCm39) |
V2656A |
possibly damaging |
Het |
| Ffar1 |
A |
C |
7: 30,560,204 (GRCm39) |
L231R |
probably damaging |
Het |
| Gab1 |
T |
C |
8: 81,527,018 (GRCm39) |
K27E |
probably damaging |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| H2-T5 |
A |
C |
17: 36,479,377 (GRCm39) |
L8R |
probably damaging |
Het |
| Irx6 |
T |
C |
8: 93,404,145 (GRCm39) |
|
probably null |
Het |
| Mcrs1 |
C |
A |
15: 99,141,569 (GRCm39) |
R376L |
probably damaging |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,719 (GRCm39) |
L64F |
possibly damaging |
Het |
| Nck2 |
T |
G |
1: 43,593,552 (GRCm39) |
V253G |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,566,702 (GRCm39) |
T12M |
possibly damaging |
Het |
| Pdpk1 |
A |
T |
17: 24,317,095 (GRCm39) |
L256Q |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,752 (GRCm39) |
D432G |
probably benign |
Het |
| Psg25 |
A |
T |
7: 18,258,709 (GRCm39) |
Y322* |
probably null |
Het |
| Pzp |
G |
A |
6: 128,466,011 (GRCm39) |
A1223V |
probably damaging |
Het |
| Rassf8 |
A |
T |
6: 145,761,268 (GRCm39) |
Y198F |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,573,365 (GRCm39) |
Q42R |
probably benign |
Het |
| Sirpb1b |
A |
C |
3: 15,613,729 (GRCm39) |
C51G |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,150,643 (GRCm39) |
Q316* |
probably null |
Het |
| Spesp1 |
A |
G |
9: 62,189,331 (GRCm39) |
V5A |
possibly damaging |
Het |
| Sprr2e |
G |
A |
3: 92,260,370 (GRCm39) |
C67Y |
unknown |
Het |
| Tcaf3 |
G |
A |
6: 42,573,697 (GRCm39) |
P172S |
probably damaging |
Het |
| Tmem126b |
A |
G |
7: 90,120,155 (GRCm39) |
I72T |
probably benign |
Het |
| Tmem17 |
G |
T |
11: 22,468,624 (GRCm39) |
V188L |
probably benign |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,678 (GRCm39) |
|
probably null |
Het |
| Tshz2 |
A |
T |
2: 169,725,944 (GRCm39) |
Q180L |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,494 (GRCm39) |
I1256F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Ywhag |
G |
T |
5: 135,940,119 (GRCm39) |
H158Q |
probably benign |
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 |
|
|
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'- CAGCACTGTGTCTTTGTTCTAG -3'
(R):5'- CCAAAGGCTCAGTGTGCATC -3'
Sequencing Primer
(F):5'- TTCTAGGAAGCAGTAGGGCCC -3'
(R):5'- AGGCTCAGTGTGCATCAACTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation