Incidental Mutation 'R4230:Ankrd26'
ID 320782
Institutional Source Beutler Lab
Gene Symbol Ankrd26
Ensembl Gene ENSMUSG00000007827
Gene Name ankyrin repeat domain 26
Synonyms 5730521P14Rik
MMRRC Submission 041049-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4230 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 118478269-118539187 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to C at 118536349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112830] [ENSMUST00000112830]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000112830
SMART Domains Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827

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 probably null
Transcript: ENSMUST00000112830
SMART Domains Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alg11 T A 8: 22,555,534 (GRCm39) I223N probably damaging Het
Apbb1 T C 7: 105,216,891 (GRCm39) D264G probably damaging Het
Arhgap32 T C 9: 32,168,770 (GRCm39) Y918H probably benign Het
Astn2 T G 4: 65,829,919 (GRCm39) T584P probably damaging Het
Atxn7 G A 14: 14,100,381 (GRCm38) S689N probably benign Het
Cacna1h T C 17: 25,606,837 (GRCm39) N873S probably damaging Het
Cadps T A 14: 12,488,987 (GRCm38) I857F probably damaging Het
Cfap119 T A 7: 127,186,002 (GRCm39) M102L probably benign Het
Cog6 T C 3: 52,900,229 (GRCm39) T511A probably benign Het
Dppa3 A T 6: 122,606,291 (GRCm39) N118I probably damaging Het
Dst A G 1: 34,234,909 (GRCm39) N3663D probably benign Het
Eif1ad14 A T 12: 87,886,567 (GRCm39) S21T unknown Het
Eme1 G A 11: 94,538,818 (GRCm39) T354M possibly damaging Het
Gm10735 T C 13: 113,177,743 (GRCm39) probably benign Het
Ifi44l A T 3: 151,468,514 (GRCm39) C5* probably null Het
Itln1 G A 1: 171,362,375 (GRCm39) T2I probably benign Het
Jam2 T A 16: 84,618,180 (GRCm39) M309K possibly damaging Het
Kcnk5 C A 14: 20,194,852 (GRCm39) C162F probably damaging Het
Metrn A G 17: 26,015,915 (GRCm39) probably benign Het
Muc5b T A 7: 141,417,259 (GRCm39) Y3402N probably benign Het
Ncoa7 A T 10: 30,574,253 (GRCm39) probably null Het
Nxpe4 A G 9: 48,304,122 (GRCm39) R70G possibly damaging Het
Onecut3 T C 10: 80,349,793 (GRCm39) I429T probably damaging Het
Or2n1 A C 17: 38,486,772 (GRCm39) I266L possibly damaging Het
Or2z9 T C 8: 72,854,188 (GRCm39) Y195H probably damaging Het
Or4k37 T G 2: 111,159,475 (GRCm39) L237R probably damaging Het
Or52e18 A T 7: 104,609,801 (GRCm39) I46N probably benign Het
Pds5a A G 5: 65,787,329 (GRCm39) S858P possibly damaging Het
Phf11c A T 14: 59,630,516 (GRCm39) V63E probably benign Het
Rasa3 A G 8: 13,620,264 (GRCm39) F802L possibly damaging Het
Sec24b G T 3: 129,834,368 (GRCm39) Q141K probably benign Het
Sec61a1 A T 6: 88,492,413 (GRCm39) probably null Het
Slc45a3 T A 1: 131,909,399 (GRCm39) L532Q probably damaging Het
Slc46a2 T C 4: 59,914,048 (GRCm39) I292V probably benign Het
Smg1 C T 7: 117,747,956 (GRCm39) probably null Het
Spag6 T A 2: 18,720,449 (GRCm39) probably null Het
Spi1 T C 2: 90,945,680 (GRCm39) F254L probably damaging Het
Sspo T C 6: 48,467,868 (GRCm39) S4272P probably benign Het
Tgm5 T C 2: 120,901,216 (GRCm39) T292A probably damaging Het
Tmem229a T A 6: 24,954,831 (GRCm39) I308F probably damaging Het
Ttn T C 2: 76,554,464 (GRCm39) I30784V possibly damaging Het
Urod T A 4: 116,849,880 (GRCm39) T173S probably benign Het
Vmn1r223 A T 13: 23,433,585 (GRCm39) M60L probably benign Het
Vmn2r2 T A 3: 64,041,912 (GRCm39) I268L probably benign Het
Vwa8 C T 14: 79,320,292 (GRCm39) T1101M probably benign Het
Zc3h12c T A 9: 52,055,728 (GRCm39) 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
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
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'- CAAATCGAGGTCTTTTATGCCCC -3'
(R):5'- TTGCTTAGCAAAAGTCTCTGCTG -3'

Sequencing Primer
(F):5'- TGCCCCAAGTGTTTAAATGAGACG -3'
(R):5'- TTAGCAAAAGTCTCTGCTGCAAAAC -3'
Posted On 2015-06-12