Incidental Mutation 'R3552:Ankrd26'
ID 268993
Institutional Source Beutler Lab
Gene Symbol Ankrd26
Ensembl Gene ENSMUSG00000007827
Gene Name ankyrin repeat domain 26
Synonyms 5730521P14Rik
MMRRC Submission 040669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3552 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 118478269-118539187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118484737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 1500 (L1500H)
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: L1500H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: L1500H

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1593 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (66/66)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Agk A G 6: 40,371,615 (GRCm39) T371A probably benign Het
Akna T C 4: 63,316,361 (GRCm39) M1V probably null Het
Aldh7a1 T C 18: 56,683,364 (GRCm39) probably null Het
Atp13a5 T A 16: 29,129,584 (GRCm39) D452V probably damaging Het
Bahcc1 C T 11: 120,167,598 (GRCm39) T1333M possibly damaging Het
Carmil3 G T 14: 55,744,859 (GRCm39) R1276L possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Chrm2 A T 6: 36,500,745 (GRCm39) I201F probably damaging Het
Col16a1 A G 4: 129,970,834 (GRCm39) T618A probably benign Het
Dele1 A G 18: 38,391,418 (GRCm39) probably benign Het
Dock2 T C 11: 34,611,787 (GRCm39) Y192C probably benign Het
Ep400 T A 5: 110,877,153 (GRCm39) E821V unknown Het
Esrrg G A 1: 187,882,387 (GRCm39) V215I probably benign Het
Evx1 A T 6: 52,293,908 (GRCm39) S359C probably damaging Het
Fcrl2 A G 3: 87,166,717 (GRCm39) I92T possibly damaging Het
Gal3st1 T A 11: 3,948,110 (GRCm39) F106I possibly damaging Het
Gm9944 T C 4: 144,179,613 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Kcnh1 A G 1: 191,921,074 (GRCm39) N118D probably damaging Het
Khdrbs1 A G 4: 129,614,584 (GRCm39) I323T possibly damaging Het
Klhdc7b T C 15: 89,271,724 (GRCm39) Y869H probably benign Het
Lrrc4c T A 2: 97,460,306 (GRCm39) W311R probably damaging Het
Megf11 A G 9: 64,602,745 (GRCm39) D862G possibly damaging Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Muc5b A G 7: 141,421,442 (GRCm39) S4311G probably benign Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Neo1 T A 9: 58,801,161 (GRCm39) K1140M probably damaging Het
Oc90 T C 15: 65,750,650 (GRCm39) Q365R possibly damaging Het
Oplah C T 15: 76,186,294 (GRCm39) D734N possibly damaging Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Or4c58 A C 2: 89,674,687 (GRCm39) M210R possibly damaging Het
Or9g3 T C 2: 85,590,237 (GRCm39) N161S possibly damaging Het
Pbx1 G A 1: 167,986,362 (GRCm39) P411L possibly damaging Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Phox2b C A 5: 67,254,999 (GRCm39) R150L probably damaging Het
Plscr2 A G 9: 92,172,848 (GRCm39) E169G probably damaging Het
Ptprn2 A T 12: 116,852,497 (GRCm39) Q518L probably benign Het
Rbl1 A T 2: 157,037,505 (GRCm39) I214K probably benign Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Ryr3 T A 2: 112,582,132 (GRCm39) I2854F probably damaging Het
Shtn1 T C 19: 58,963,470 (GRCm39) Y615C probably benign Het
Sirt5 A T 13: 43,536,643 (GRCm39) N226Y probably damaging Het
Slc30a3 G A 5: 31,252,422 (GRCm39) probably benign Het
Slc5a4b A G 10: 75,917,358 (GRCm39) V226A probably damaging Het
Slf2 C A 19: 44,923,390 (GRCm39) S68* probably null Het
Smyd5 G A 6: 85,419,193 (GRCm39) E292K probably damaging Het
Spns1 A G 7: 125,969,543 (GRCm39) V512A possibly damaging Het
Sry T A Y: 2,663,141 (GRCm39) Q173L unknown Het
Ssrp1 C A 2: 84,874,736 (GRCm39) Q519K probably benign Het
Tgfbr3 T C 5: 107,287,705 (GRCm39) E498G probably damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Tnxb A T 17: 34,937,695 (GRCm39) E3861D probably damaging Het
Trbc1 G T 6: 41,516,579 (GRCm39) probably benign Het
Trpm7 T A 2: 126,668,630 (GRCm39) probably benign Het
Usp39 G A 6: 72,314,815 (GRCm39) T197I possibly damaging Het
Vmn1r38 T C 6: 66,753,477 (GRCm39) H213R possibly damaging Het
Washc2 A G 6: 116,197,529 (GRCm39) D168G probably damaging Het
Washc4 A G 10: 83,382,720 (GRCm39) I45V probably benign Het
Zfp352 A G 4: 90,113,339 (GRCm39) E493G probably benign Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp735 C A 11: 73,602,067 (GRCm39) S337* probably null Het
Other mutations in Ankrd26
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7789:Ankrd26 UTSW 6 118,504,759 (GRCm39) missense probably damaging 0.98
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'- CCTAGTCTCACTGAAGACGATGC -3'
(R):5'- CTGTCTTAATCCCAGCATCAGC -3'

Sequencing Primer
(F):5'- TGTAGAGCTAAAGCCCCGAGTTTC -3'
(R):5'- TTAATCCCAGCATCAGCATCTG -3'
Posted On 2015-02-19