Incidental Mutation 'R2164:Ankrd26'
ID 235344
Institutional Source Beutler Lab
Gene Symbol Ankrd26
Ensembl Gene ENSMUSG00000007827
Gene Name ankyrin repeat domain 26
Synonyms 5730521P14Rik
MMRRC Submission 040167-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2164 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 118478269-118539187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118502752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 806 (E806A)
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: E806A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: E806A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188172
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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
Abca6 CTGTAGGAAATCTTCAATGT CTGT 11: 110,101,019 (GRCm39) probably null Het
Adcy8 C T 15: 64,792,783 (GRCm39) G58S probably benign Het
Adgra2 T A 8: 27,604,232 (GRCm39) L24* probably null Het
Ampd2 C A 3: 107,992,685 (GRCm39) probably benign Het
Apol9b A G 15: 77,619,639 (GRCm39) D145G probably benign Het
Ash1l T A 3: 88,892,726 (GRCm39) M1535K probably benign Het
Atf6 A G 1: 170,622,304 (GRCm39) M439T probably damaging Het
B3glct A T 5: 149,677,621 (GRCm39) M417L probably damaging Het
Cep192 A T 18: 67,953,431 (GRCm39) T483S probably damaging Het
Cep290 G A 10: 100,354,657 (GRCm39) E914K probably damaging Het
Chst15 C T 7: 131,872,114 (GRCm39) A56T probably damaging Het
Col27a1 A T 4: 63,143,661 (GRCm39) T450S probably benign Het
Cpsf2 A G 12: 101,951,594 (GRCm39) N177S probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Ctc1 C T 11: 68,926,441 (GRCm39) A859V possibly damaging Het
Dcakd A G 11: 102,888,183 (GRCm39) Y134H possibly damaging Het
Dctn3 G T 4: 41,723,065 (GRCm39) Y22* probably null Het
Dync2h1 T A 9: 7,124,797 (GRCm39) D2025V probably damaging Het
Dync2li1 T C 17: 84,943,702 (GRCm39) S92P probably damaging Het
Eml5 A G 12: 98,853,356 (GRCm39) V81A probably damaging Het
Espl1 C T 15: 102,228,023 (GRCm39) R1625C probably damaging Het
Fam181a T C 12: 103,282,785 (GRCm39) V230A probably benign Het
Fanci T A 7: 79,045,743 (GRCm39) D28E probably benign Het
Fmn1 A G 2: 113,195,962 (GRCm39) N554S unknown Het
Frem2 T C 3: 53,444,751 (GRCm39) Y2460C probably damaging Het
Fscb G A 12: 64,520,567 (GRCm39) P300S probably damaging Het
Gm28042 A G 2: 119,867,229 (GRCm39) D438G probably benign Het
Ldaf1 A G 7: 119,719,462 (GRCm39) E157G possibly damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Nbas A G 12: 13,380,647 (GRCm39) D635G possibly damaging Het
Ncapg2 A G 12: 116,414,095 (GRCm39) probably null Het
Nrp2 A T 1: 62,783,514 (GRCm39) E205V probably damaging Het
Pcdhb3 A T 18: 37,435,239 (GRCm39) T402S possibly damaging Het
Phc1 T C 6: 122,299,296 (GRCm39) N638D possibly damaging Het
Plcb1 A G 2: 135,188,250 (GRCm39) N781S possibly damaging Het
Prkdc T A 16: 15,523,071 (GRCm39) D1164E probably damaging Het
Proser2 T A 2: 6,105,506 (GRCm39) R353W possibly damaging Het
Prxl2b T G 4: 154,982,606 (GRCm39) Y56S probably damaging Het
Ptges T A 2: 30,782,708 (GRCm39) T115S probably benign Het
Ptprk A T 10: 28,436,138 (GRCm39) D833V probably damaging Het
Pum1 T A 4: 130,455,394 (GRCm39) L173* probably null Het
Pum1 G T 4: 130,455,395 (GRCm39) L269F probably damaging Het
Rasgrp4 A G 7: 28,838,470 (GRCm39) Y106C probably damaging Het
Rbbp6 T A 7: 122,598,697 (GRCm39) probably benign Het
Rdh1 A G 10: 127,596,041 (GRCm39) T79A possibly damaging Het
Relb A C 7: 19,347,686 (GRCm39) probably null Het
Rnf122 G A 8: 31,602,192 (GRCm39) W6* probably null Het
Rnf31 A G 14: 55,829,994 (GRCm39) E138G possibly damaging Het
Scaf8 G A 17: 3,247,485 (GRCm39) R936Q probably damaging Het
Scube3 T A 17: 28,385,108 (GRCm39) V686D possibly damaging Het
Snrnp27 A T 6: 86,653,196 (GRCm39) C141S probably benign Het
Spns2 C T 11: 72,349,497 (GRCm39) V252M possibly damaging Het
Tomm40l C T 1: 171,047,703 (GRCm39) S220N probably damaging Het
Trim17 A G 11: 58,862,237 (GRCm39) D423G probably damaging Het
Trpc6 A AT 9: 8,610,466 (GRCm39) probably null Het
Tut4 G A 4: 108,360,226 (GRCm39) R481Q possibly damaging Het
Uba5 A T 9: 103,937,442 (GRCm39) M89K probably damaging Het
Vav2 T C 2: 27,163,718 (GRCm39) D628G probably damaging Het
Vmn2r107 T C 17: 20,595,904 (GRCm39) L819P probably damaging Het
Vmn2r25 A T 6: 123,816,518 (GRCm39) D354E possibly damaging Het
Xrn1 A G 9: 95,888,873 (GRCm39) E984G possibly damaging Het
Zbtb17 T C 4: 141,191,557 (GRCm39) V223A probably benign Het
Zfp592 T C 7: 80,691,186 (GRCm39) S1122P possibly damaging 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
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
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'- GACATATCTCAAGTGGCTCATGGAG -3'
(R):5'- CACAACGTGTTGAGGTCCAG -3'

Sequencing Primer
(F):5'- TCTCAAGTGGCTCATGGAGATATACG -3'
(R):5'- TGTTGAGGTCCAGGTCACAAC -3'
Posted On 2014-10-01