Incidental Mutation 'R5149:Ankrd26'
ID 395247
Institutional Source Beutler Lab
Gene Symbol Ankrd26
Ensembl Gene ENSMUSG00000007827
Gene Name ankyrin repeat domain 26
Synonyms 5730521P14Rik
MMRRC Submission 042732-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5149 (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 C at 118535957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 159 (N159S)
Ref Sequence ENSEMBL: ENSMUSP00000108449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112830]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000112830
AA Change: N159S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: N159S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg A G 16: 22,717,673 (GRCm39) T245A probably benign Het
Akr1c13 G T 13: 4,244,168 (GRCm39) V74L probably benign Het
Amt G A 9: 108,178,650 (GRCm39) V389I possibly damaging Het
Atp1a4 A G 1: 172,059,572 (GRCm39) I840T probably damaging Het
Capn1 T C 19: 6,040,364 (GRCm39) probably null Het
Col27a1 T C 4: 63,249,664 (GRCm39) probably benign Het
Cyp2j5 A G 4: 96,547,744 (GRCm39) L166P probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dchs1 G A 7: 105,404,865 (GRCm39) T2559I probably damaging Het
Dnah12 C A 14: 26,572,883 (GRCm39) S258* probably null Het
Dpep1 A T 8: 123,927,177 (GRCm39) T309S probably benign Het
Epha5 A T 5: 84,298,217 (GRCm39) F559L probably damaging Het
Gm3409 T C 5: 146,474,571 (GRCm39) I29T possibly damaging Het
Grhl1 CAGAAGAAG CAGAAG 12: 24,662,178 (GRCm39) probably benign Het
Gtf3c1 G T 7: 125,267,209 (GRCm39) R941S probably damaging Het
Helb C T 10: 119,941,648 (GRCm39) E347K probably benign Het
Ighv14-3 A G 12: 114,023,710 (GRCm39) S36P probably damaging Het
Klrb1c T A 6: 128,760,670 (GRCm39) M211L probably benign Het
Larp7 C T 3: 127,334,460 (GRCm39) E510K probably damaging Het
Lrig1 C T 6: 94,605,025 (GRCm39) R190Q possibly damaging Het
Marchf6 A G 15: 31,462,140 (GRCm39) S863P possibly damaging Het
Mgst2 A G 3: 51,589,958 (GRCm39) N132S probably benign Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5w15 A T 2: 87,567,749 (GRCm39) S306R probably benign Het
Or6c6c T C 10: 129,541,377 (GRCm39) V210A probably benign Het
Papln A T 12: 83,818,656 (GRCm39) probably null Het
Poteg C T 8: 27,971,671 (GRCm39) S395L possibly damaging Het
Prox1 T A 1: 189,879,250 (GRCm39) I643F possibly damaging Het
Septin4 A G 11: 87,480,071 (GRCm39) E211G probably damaging Het
Serpinb6e A G 13: 34,016,468 (GRCm39) F422L probably damaging Het
Slc22a19 A G 19: 7,688,503 (GRCm39) L19P probably damaging Het
Snf8 G T 11: 95,934,286 (GRCm39) A136S probably benign Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spta1 A G 1: 174,075,000 (GRCm39) T2409A probably damaging Het
Tat A G 8: 110,723,450 (GRCm39) S313G probably benign Het
Tep1 A T 14: 51,074,855 (GRCm39) C1785* probably null Het
Tmem132b A G 5: 125,699,989 (GRCm39) S176G probably damaging Het
Tnfrsf8 T C 4: 145,029,675 (GRCm39) R42G possibly damaging Het
Trio T C 15: 27,754,115 (GRCm39) D2124G possibly damaging Het
Trp53bp1 A T 2: 121,046,598 (GRCm39) D1067E probably benign Het
Tspan13 T C 12: 36,074,065 (GRCm39) S24G probably damaging Het
Zdbf2 T C 1: 63,344,062 (GRCm39) S814P possibly damaging Het
Zfp213 C A 17: 23,780,373 (GRCm39) R49L probably 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
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
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'- CTGAGCATTTCTGAACACATTCC -3'
(R):5'- GGGCATAAAAGACCTCGATTTG -3'

Sequencing Primer
(F):5'- ACACATTCCTATAAAATACACAGCAG -3'
(R):5'- AAGCCGACAATGTGTGTATTTTG -3'
Posted On 2016-06-21