Incidental Mutation 'R6112:Ankmy1'
| ID |
484878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankmy1
|
| Ensembl Gene |
ENSMUSG00000034212 |
| Gene Name |
ankyrin repeat and MYND domain containing 1 |
| Synonyms |
4930483I10Rik |
| MMRRC Submission |
044261-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92787525-92830628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92798684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 936
(F936I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108622
(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: F936I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: F936I
| 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: F937I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: F937I
| 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 |
unknown
Transcript: ENSMUST00000212504
AA Change: F19I
|
| Meta Mutation Damage Score |
0.1760 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,278,780 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Adh5 |
G |
T |
3: 138,157,029 (GRCm39) |
V197F |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,625 (GRCm39) |
D710V |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,134,902 (GRCm39) |
E622G |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,740,684 (GRCm39) |
Y219H |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,143,556 (GRCm39) |
D184G |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,300,072 (GRCm39) |
A2216T |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,971,205 (GRCm39) |
|
probably null |
Het |
| Cep250 |
C |
A |
2: 155,836,503 (GRCm39) |
L2211I |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,942,298 (GRCm39) |
I1752T |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,431,604 (GRCm39) |
V1560A |
unknown |
Het |
| Dapk3 |
A |
T |
10: 81,019,864 (GRCm39) |
Q6L |
probably benign |
Het |
| Dctn5 |
A |
G |
7: 121,732,460 (GRCm39) |
|
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,330 (GRCm39) |
I182N |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,954,955 (GRCm39) |
F346S |
probably damaging |
Het |
| Erap1 |
G |
T |
13: 74,794,398 (GRCm39) |
W19L |
probably benign |
Het |
| Gm10801 |
A |
G |
2: 98,494,409 (GRCm39) |
H162R |
probably benign |
Het |
| Gpm6a |
G |
A |
8: 55,507,845 (GRCm39) |
A194T |
probably benign |
Het |
| Grip1 |
C |
A |
10: 119,829,137 (GRCm39) |
N32K |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,494,687 (GRCm39) |
I4134T |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,499,105 (GRCm39) |
H230Y |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,414,241 (GRCm39) |
T1435A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,547,520 (GRCm39) |
V368A |
possibly damaging |
Het |
| Lmna |
C |
A |
3: 88,393,928 (GRCm39) |
E217* |
probably null |
Het |
| Lrp1b |
C |
T |
2: 41,231,894 (GRCm39) |
G337E |
probably benign |
Het |
| Maf1 |
A |
G |
15: 76,236,312 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,722,571 (GRCm39) |
I436V |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,157 (GRCm39) |
T3123I |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,042 (GRCm39) |
H3329Q |
probably benign |
Het |
| Noa1 |
C |
T |
5: 77,457,593 (GRCm39) |
R104Q |
probably benign |
Het |
| Odc1 |
T |
G |
12: 17,599,473 (GRCm39) |
S267A |
probably benign |
Het |
| Or5p60 |
T |
A |
7: 107,724,369 (GRCm39) |
I34F |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Pamr1 |
T |
C |
2: 102,441,953 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,802,612 (GRCm39) |
I152N |
probably damaging |
Het |
| Pigt |
C |
T |
2: 164,348,365 (GRCm39) |
Q437* |
probably null |
Het |
| Prx |
T |
C |
7: 27,215,973 (GRCm39) |
L158P |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,600,922 (GRCm39) |
T152S |
probably benign |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,290 (GRCm39) |
I404T |
probably benign |
Het |
| Radil |
C |
T |
5: 142,529,399 (GRCm39) |
R99H |
probably damaging |
Het |
| Rc3h2 |
C |
T |
2: 37,268,899 (GRCm39) |
V856I |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,664 (GRCm39) |
V115E |
probably damaging |
Het |
| Snx3 |
C |
A |
10: 42,402,042 (GRCm39) |
S85R |
probably benign |
Het |
| Sppl2c |
A |
T |
11: 104,077,963 (GRCm39) |
E254D |
probably benign |
Het |
| Srms |
C |
A |
2: 180,849,780 (GRCm39) |
E237* |
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,805 (GRCm39) |
L2514P |
probably damaging |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Usp4 |
A |
G |
9: 108,233,703 (GRCm39) |
Y108C |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,847 (GRCm39) |
I737F |
probably damaging |
Het |
| Zfp600 |
A |
T |
4: 146,131,701 (GRCm39) |
H123L |
probably benign |
Het |
| Zfp646 |
G |
T |
7: 127,478,190 (GRCm39) |
R122S |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,880,126 (GRCm39) |
Y553H |
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 |
|
|
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 |
|
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'- GGCTCAGTGTGCATCAACTG -3'
Sequencing Primer
(F):5'- TTCTAGGAAGCAGTAGGGCCC -3'
(R):5'- CAGTGTGCATCAACTGTTCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation