Incidental Mutation 'R7789:Ankrd26'
| ID |
599729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd26
|
| Ensembl Gene |
ENSMUSG00000007827 |
| Gene Name |
ankyrin repeat domain 26 |
| Synonyms |
5730521P14Rik |
| MMRRC Submission |
045845-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
118478269-118539187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118504759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 717
(H717N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112830]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112830
AA Change: H717N
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: H717N
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
80 |
109 |
1.5e-7 |
SMART |
|
ANK
|
113 |
142 |
3.5e-4 |
SMART |
|
ANK
|
146 |
175 |
1.9e-6 |
SMART |
|
ANK
|
179 |
208 |
2.2e-4 |
SMART |
|
low complexity region
|
306 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
580 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
692 |
754 |
4e-10 |
BLAST |
|
Pfam:CCDC144C
|
886 |
1190 |
2e-142 |
PFAM |
|
low complexity region
|
1298 |
1315 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1357 |
N/A |
INTRINSIC |
|
coiled coil region
|
1407 |
1444 |
N/A |
INTRINSIC |
|
low complexity region
|
1473 |
1486 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
1495 |
1602 |
1.3e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
99% (77/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele have enlarged kidneys and hearts, exhibit increased lean body mass and adiposity, develop extreme obesity associated with hyperphagia rather than reduced energy expenditure, and show insulin resistance and gigantism. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,175 (GRCm39) |
E163K |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,105,488 (GRCm39) |
R52S |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,623 (GRCm39) |
C328* |
probably null |
Het |
| Ankrd40 |
C |
A |
11: 94,225,535 (GRCm39) |
P189T |
probably damaging |
Het |
| Anln |
A |
G |
9: 22,263,333 (GRCm39) |
S113P |
|
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Asxl1 |
C |
T |
2: 153,241,943 (GRCm39) |
T832I |
probably benign |
Het |
| Bicd2 |
C |
T |
13: 49,533,135 (GRCm39) |
R574C |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,399,826 (GRCm39) |
|
probably null |
Het |
| Casr |
A |
G |
16: 36,315,653 (GRCm39) |
F806L |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,013,863 (GRCm39) |
N142K |
probably benign |
Het |
| Cbl |
C |
T |
9: 44,074,764 (GRCm39) |
D433N |
probably damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,096 (GRCm39) |
V62D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,923,532 (GRCm39) |
N18S |
probably benign |
Het |
| Cyp2j6 |
C |
T |
4: 96,433,953 (GRCm39) |
R119H |
probably benign |
Het |
| Cyp4a14 |
C |
G |
4: 115,352,107 (GRCm39) |
V102L |
probably benign |
Het |
| Dnajb3 |
A |
T |
1: 88,133,399 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,475,729 (GRCm39) |
K534M |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,505 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,536,930 (GRCm39) |
I985T |
possibly damaging |
Het |
| Emsy |
G |
T |
7: 98,270,696 (GRCm39) |
P436Q |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,529,981 (GRCm39) |
|
probably null |
Het |
| Erc1 |
T |
A |
6: 119,750,670 (GRCm39) |
R353* |
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,172,385 (GRCm39) |
D2140V |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,052,329 (GRCm39) |
Y218* |
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,740 (GRCm39) |
R1045H |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,147,643 (GRCm39) |
L427F |
unknown |
Het |
| Gbf1 |
T |
A |
19: 46,242,441 (GRCm39) |
L144M |
probably damaging |
Het |
| Glmn |
T |
G |
5: 107,696,941 (GRCm39) |
N592T |
probably benign |
Het |
| Golgb1 |
C |
G |
16: 36,695,761 (GRCm39) |
P87A |
unknown |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Insyn2b |
T |
A |
11: 34,352,537 (GRCm39) |
M193K |
probably benign |
Het |
| Itga9 |
T |
G |
9: 118,487,564 (GRCm39) |
F216V |
possibly damaging |
Het |
| Klhl18 |
T |
C |
9: 110,268,076 (GRCm39) |
D149G |
unknown |
Het |
| Lcat |
C |
T |
8: 106,668,857 (GRCm39) |
V114M |
probably benign |
Het |
| Lrrc8c |
C |
A |
5: 105,755,066 (GRCm39) |
N280K |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,796,806 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,529,360 (GRCm39) |
I173K |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,475,266 (GRCm39) |
V345A |
possibly damaging |
Het |
| Mok |
T |
A |
12: 110,778,261 (GRCm39) |
H215L |
probably damaging |
Het |
| Mphosph9 |
C |
G |
5: 124,453,650 (GRCm39) |
E221Q |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Myom1 |
A |
G |
17: 71,424,431 (GRCm39) |
T1525A |
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,326,317 (GRCm39) |
S143L |
probably benign |
Het |
| Or1af1 |
C |
T |
2: 37,109,672 (GRCm39) |
T57I |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,610 (GRCm39) |
Y116* |
probably null |
Het |
| Or52d1 |
T |
A |
7: 103,756,195 (GRCm39) |
S236R |
probably damaging |
Het |
| Or7g29 |
G |
T |
9: 19,286,361 (GRCm39) |
T272K |
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,623,819 (GRCm39) |
S568G |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,183,168 (GRCm39) |
|
probably null |
Het |
| Plxnc1 |
T |
A |
10: 94,630,339 (GRCm39) |
E1520V |
probably damaging |
Het |
| Ppil3 |
G |
A |
1: 58,473,538 (GRCm39) |
T104I |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,402,534 (GRCm39) |
V118E |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,851,399 (GRCm39) |
D849G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,361,045 (GRCm39) |
|
probably null |
Het |
| Sema3f |
T |
A |
9: 107,582,631 (GRCm39) |
K37N |
probably benign |
Het |
| Sh3glb1 |
G |
T |
3: 144,397,892 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,637 (GRCm39) |
D571G |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,077,150 (GRCm39) |
Y874C |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,782,296 (GRCm39) |
|
probably benign |
Het |
| Snrnp70 |
A |
T |
7: 45,026,045 (GRCm39) |
Y441* |
probably null |
Het |
| Ssrp1 |
C |
T |
2: 84,871,525 (GRCm39) |
R316W |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,711,101 (GRCm39) |
V144E |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,188,117 (GRCm39) |
L562P |
|
Het |
| Trim68 |
T |
C |
7: 102,333,676 (GRCm39) |
D2G |
possibly damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,920 (GRCm39) |
H240L |
probably damaging |
Het |
| Tssc4 |
A |
G |
7: 142,623,515 (GRCm39) |
|
probably null |
Het |
| Usp7 |
T |
A |
16: 8,516,675 (GRCm39) |
Q539L |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,831 (GRCm39) |
C710S |
possibly damaging |
Het |
| Vmn2r99 |
G |
T |
17: 19,614,079 (GRCm39) |
V600F |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,826,635 (GRCm39) |
V2879M |
|
Het |
| Vrtn |
T |
A |
12: 84,697,080 (GRCm39) |
M610K |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,850,806 (GRCm39) |
E366G |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,040,845 (GRCm39) |
P703S |
probably damaging |
Het |
|
| Other mutations in Ankrd26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Ankrd26
|
APN |
6 |
118,536,319 (GRCm39) |
nonsense |
probably null |
|
|
IGL01286:Ankrd26
|
APN |
6 |
118,536,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01574:Ankrd26
|
APN |
6 |
118,516,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01727:Ankrd26
|
APN |
6 |
118,488,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Ankrd26
|
APN |
6 |
118,535,966 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02200:Ankrd26
|
APN |
6 |
118,536,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Ankrd26
|
APN |
6 |
118,495,379 (GRCm39) |
splice site |
probably benign |
|
|
IGL02973:Ankrd26
|
APN |
6 |
118,500,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03233:Ankrd26
|
APN |
6 |
118,512,107 (GRCm39) |
splice site |
probably null |
|
|
guillemot
|
UTSW |
6 |
118,484,598 (GRCm39) |
critical splice donor site |
probably null |
|
|
Iceland
|
UTSW |
6 |
118,526,389 (GRCm39) |
missense |
probably benign |
0.30 |
|
murre
|
UTSW |
6 |
118,526,598 (GRCm39) |
critical splice donor site |
probably null |
|
|
ANU74:Ankrd26
|
UTSW |
6 |
118,529,736 (GRCm39) |
missense |
probably benign |
0.02 |
|
N/A:Ankrd26
|
UTSW |
6 |
118,506,535 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0078:Ankrd26
|
UTSW |
6 |
118,512,030 (GRCm39) |
splice site |
probably benign |
|
|
R0083:Ankrd26
|
UTSW |
6 |
118,500,215 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0165:Ankrd26
|
UTSW |
6 |
118,517,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0344:Ankrd26
|
UTSW |
6 |
118,484,598 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0828:Ankrd26
|
UTSW |
6 |
118,510,434 (GRCm39) |
splice site |
probably benign |
|
|
R1532:Ankrd26
|
UTSW |
6 |
118,499,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Ankrd26
|
UTSW |
6 |
118,502,883 (GRCm39) |
splice site |
probably benign |
|
|
R1875:Ankrd26
|
UTSW |
6 |
118,517,410 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1940:Ankrd26
|
UTSW |
6 |
118,488,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Ankrd26
|
UTSW |
6 |
118,502,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Ankrd26
|
UTSW |
6 |
118,500,843 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2204:Ankrd26
|
UTSW |
6 |
118,500,843 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2205:Ankrd26
|
UTSW |
6 |
118,500,843 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3107:Ankrd26
|
UTSW |
6 |
118,533,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3419:Ankrd26
|
UTSW |
6 |
118,512,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Ankrd26
|
UTSW |
6 |
118,484,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Ankrd26
|
UTSW |
6 |
118,526,389 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4157:Ankrd26
|
UTSW |
6 |
118,484,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Ankrd26
|
UTSW |
6 |
118,500,639 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4230:Ankrd26
|
UTSW |
6 |
118,536,349 (GRCm39) |
splice site |
probably null |
|
|
R4651:Ankrd26
|
UTSW |
6 |
118,492,787 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4701:Ankrd26
|
UTSW |
6 |
118,483,446 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4747:Ankrd26
|
UTSW |
6 |
118,504,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4752:Ankrd26
|
UTSW |
6 |
118,517,426 (GRCm39) |
missense |
probably null |
1.00 |
|
R4834:Ankrd26
|
UTSW |
6 |
118,500,679 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4835:Ankrd26
|
UTSW |
6 |
118,525,811 (GRCm39) |
nonsense |
probably null |
|
|
R4849:Ankrd26
|
UTSW |
6 |
118,509,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5149:Ankrd26
|
UTSW |
6 |
118,535,957 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5389:Ankrd26
|
UTSW |
6 |
118,485,536 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5473:Ankrd26
|
UTSW |
6 |
118,492,797 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5518:Ankrd26
|
UTSW |
6 |
118,525,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5525:Ankrd26
|
UTSW |
6 |
118,504,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5608:Ankrd26
|
UTSW |
6 |
118,488,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Ankrd26
|
UTSW |
6 |
118,516,685 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5704:Ankrd26
|
UTSW |
6 |
118,500,843 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5927:Ankrd26
|
UTSW |
6 |
118,484,597 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5943:Ankrd26
|
UTSW |
6 |
118,482,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Ankrd26
|
UTSW |
6 |
118,494,855 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6181:Ankrd26
|
UTSW |
6 |
118,525,838 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6478:Ankrd26
|
UTSW |
6 |
118,488,599 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6667:Ankrd26
|
UTSW |
6 |
118,484,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6865:Ankrd26
|
UTSW |
6 |
118,500,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7224:Ankrd26
|
UTSW |
6 |
118,516,688 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7287:Ankrd26
|
UTSW |
6 |
118,526,598 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7301:Ankrd26
|
UTSW |
6 |
118,488,624 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7348:Ankrd26
|
UTSW |
6 |
118,485,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Ankrd26
|
UTSW |
6 |
118,485,741 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7789:Ankrd26
|
UTSW |
6 |
118,504,760 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7964:Ankrd26
|
UTSW |
6 |
118,500,160 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8078:Ankrd26
|
UTSW |
6 |
118,494,854 (GRCm39) |
splice site |
probably null |
|
|
R8224:Ankrd26
|
UTSW |
6 |
118,502,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Ankrd26
|
UTSW |
6 |
118,535,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Ankrd26
|
UTSW |
6 |
118,512,104 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9072:Ankrd26
|
UTSW |
6 |
118,500,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Ankrd26
|
UTSW |
6 |
118,500,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Ankrd26
|
UTSW |
6 |
118,536,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9334:Ankrd26
|
UTSW |
6 |
118,509,262 (GRCm39) |
missense |
probably benign |
|
|
R9417:Ankrd26
|
UTSW |
6 |
118,504,725 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9521:Ankrd26
|
UTSW |
6 |
118,517,420 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9720:Ankrd26
|
UTSW |
6 |
118,498,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Ankrd26
|
UTSW |
6 |
118,500,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0028:Ankrd26
|
UTSW |
6 |
118,484,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ankrd26
|
UTSW |
6 |
118,500,493 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Ankrd26
|
UTSW |
6 |
118,500,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGAGTGAGTGTAACAGAACATT -3'
(R):5'- TTATTTGCAGAGCCTAGTGTAATG -3'
Sequencing Primer
(F):5'- AGTGAGTGTAACAGAACATTAAACAG -3'
(R):5'- CAGAGCCTAGTGTAATGTGTTCCTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation