Incidental Mutation 'R6860:Ankrd27'
ID 535437
Institutional Source Beutler Lab
Gene Symbol Ankrd27
Ensembl Gene ENSMUSG00000034867
Gene Name ankyrin repeat domain 27
Synonyms Varp, D330003H11Rik
MMRRC Submission 045025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6860 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 35285669-35338651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35327952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 824 (V824A)
Ref Sequence ENSEMBL: ENSMUSP00000041751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000190503] [ENSMUST00000206472] [ENSMUST00000206632]
AlphaFold Q3UMR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040844
AA Change: V824A

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: V824A

DomainStartEndE-ValueType
Blast:ANK 8 37 2e-8 BLAST
VPS9 264 380 1.92e-7 SMART
Blast:ANK 393 418 8e-9 BLAST
low complexity region 419 430 N/A INTRINSIC
ANK 462 491 8.65e-5 SMART
ANK 495 524 1.8e-2 SMART
ANK 528 558 2.45e-4 SMART
ANK 564 593 6.46e-4 SMART
low complexity region 638 658 N/A INTRINSIC
ANK 742 774 8.39e-3 SMART
ANK 775 804 5.93e-3 SMART
ANK 808 837 4.46e-7 SMART
ANK 841 870 2.81e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187807
Predicted Effect probably benign
Transcript: ENSMUST00000190503
AA Change: V769A

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: V769A

DomainStartEndE-ValueType
Blast:ANK 8 37 2e-8 BLAST
VPS9 264 380 1.92e-7 SMART
Blast:ANK 393 418 7e-9 BLAST
low complexity region 419 430 N/A INTRINSIC
ANK 462 491 8.65e-5 SMART
ANK 495 524 1.8e-2 SMART
ANK 528 558 2.45e-4 SMART
ANK 564 593 6.46e-4 SMART
low complexity region 638 658 N/A INTRINSIC
ANK 687 719 8.39e-3 SMART
ANK 720 749 5.93e-3 SMART
ANK 753 782 4.46e-7 SMART
ANK 786 815 2.81e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206472
Predicted Effect probably benign
Transcript: ENSMUST00000206632
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (86/86)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,080,412 (GRCm39) E418G probably damaging Het
9930012K11Rik C A 14: 70,395,071 (GRCm39) V28L possibly damaging Het
Abtb2 C T 2: 103,539,770 (GRCm39) R712* probably null Het
Acvr1c C T 2: 58,177,717 (GRCm39) G171S probably damaging Het
Ahctf1 G T 1: 179,580,853 (GRCm39) A1783E probably benign Het
Anapc4 A T 5: 53,006,170 (GRCm39) Q149L probably damaging Het
Ankrd31 G C 13: 96,968,094 (GRCm39) C577S probably benign Het
Apol7c T C 15: 77,410,274 (GRCm39) N224S probably benign Het
Arl14 A T 3: 69,130,029 (GRCm39) T59S probably benign Het
Astn1 T A 1: 158,440,042 (GRCm39) I870K probably damaging Het
B4galt1 A T 4: 40,807,796 (GRCm39) V335E probably benign Het
C2cd3 C T 7: 100,039,448 (GRCm39) P216S probably benign Het
Cchcr1 C A 17: 35,840,015 (GRCm39) N711K possibly damaging Het
Chd2 A G 7: 73,147,558 (GRCm39) F467L possibly damaging Het
Cntn6 A T 6: 104,838,907 (GRCm39) E987V possibly damaging Het
Col11a2 T A 17: 34,272,572 (GRCm39) L286H probably damaging Het
Cwc22 C T 2: 77,759,792 (GRCm39) R85Q possibly damaging Het
Cyp7a1 A C 4: 6,272,587 (GRCm39) F209V probably damaging Het
Dmtn T C 14: 70,852,322 (GRCm39) T189A possibly damaging Het
Dnhd1 C G 7: 105,327,473 (GRCm39) N777K probably benign Het
Dusp16 A T 6: 134,702,842 (GRCm39) C216* probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 T C 2: 125,170,078 (GRCm39) N1993S probably damaging Het
Fbxw22 A G 9: 109,213,030 (GRCm39) S306P probably benign Het
Ferd3l T C 12: 33,978,651 (GRCm39) S55P probably benign Het
Fpr-rs3 A G 17: 20,844,560 (GRCm39) S194P possibly damaging Het
Gm19965 G A 1: 116,748,609 (GRCm39) D97N probably benign Het
Gtpbp2 A G 17: 46,478,914 (GRCm39) probably benign Het
H3c7 G T 13: 23,728,760 (GRCm39) V36L probably benign Het
Hcn3 A C 3: 89,067,152 (GRCm39) I72S possibly damaging Het
Hk3 T A 13: 55,162,278 (GRCm39) N109Y probably damaging Het
Iqub T C 6: 24,505,737 (GRCm39) E57G possibly damaging Het
Kcnk3 T A 5: 30,779,397 (GRCm39) M149K possibly damaging Het
Kcp C T 6: 29,505,719 (GRCm39) G51D probably benign Het
Kif26a C A 12: 112,113,263 (GRCm39) A53D probably damaging Het
Lifr T A 15: 7,202,418 (GRCm39) I353K probably benign Het
Llph A T 10: 120,067,189 (GRCm39) N102I probably damaging Het
Lmo3 C A 6: 138,393,566 (GRCm39) R18L possibly damaging Het
Lrrc46 T C 11: 96,926,371 (GRCm39) E175G probably benign Het
Ltk A T 2: 119,585,075 (GRCm39) C128* probably null Het
Map1b T C 13: 99,571,275 (GRCm39) E482G probably damaging Het
Mapk8ip2 T C 15: 89,344,655 (GRCm39) V740A probably damaging Het
Miga2 T C 2: 30,261,175 (GRCm39) W157R probably benign Het
Mlip A G 9: 77,009,675 (GRCm39) *837Q probably null Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myl1 T C 1: 66,984,217 (GRCm39) probably benign Het
Or1l4 T C 2: 37,092,189 (GRCm39) L312P possibly damaging Het
Or2a5 T C 6: 42,873,750 (GRCm39) Y122H probably benign Het
Or51ab3 A G 7: 103,201,075 (GRCm39) I28V probably benign Het
P3h3 A T 6: 124,834,331 (GRCm39) V107D probably benign Het
Papolb A T 5: 142,514,651 (GRCm39) S331T possibly damaging Het
Pars2 T G 4: 106,511,700 (GRCm39) V494G probably benign Het
Pcdhb3 C A 18: 37,434,763 (GRCm39) T243K probably benign Het
Pde9a T A 17: 31,689,698 (GRCm39) M415K probably damaging Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Prl A G 13: 27,248,942 (GRCm39) N197S possibly damaging Het
Prl2c1 T A 13: 28,035,724 (GRCm39) M32K probably benign Het
Prrt4 T C 6: 29,170,737 (GRCm39) S572G possibly damaging Het
Psd T A 19: 46,310,858 (GRCm39) D397V probably damaging Het
Psme2b A T 11: 48,836,307 (GRCm39) Y213* probably null Het
Ptcd3 T A 6: 71,874,094 (GRCm39) probably null Het
Ptprk T G 10: 28,210,480 (GRCm39) F167L probably damaging Het
Rfx7 T C 9: 72,524,226 (GRCm39) V472A probably damaging Het
Sanbr A G 11: 23,575,100 (GRCm39) L58P probably damaging Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Sec16a T C 2: 26,320,124 (GRCm39) Y1438C probably damaging Het
Serinc3 C T 2: 163,476,366 (GRCm39) S155N probably benign Het
Slc3a2 A T 19: 8,690,996 (GRCm39) V78E probably damaging Het
Slc44a4 T A 17: 35,140,044 (GRCm39) L23Q probably damaging Het
Slco5a1 C T 1: 12,951,420 (GRCm39) probably benign Het
Slit1 A G 19: 41,605,154 (GRCm39) M899T probably benign Het
Sorl1 A G 9: 41,933,688 (GRCm39) I1094T probably benign Het
Spag9 T A 11: 93,972,196 (GRCm39) L258Q probably benign Het
Strip1 T C 3: 107,526,252 (GRCm39) E488G possibly damaging Het
Stx18 G A 5: 38,262,235 (GRCm39) D30N possibly damaging Het
Sync T C 4: 129,181,583 (GRCm39) probably null Het
Syncrip A G 9: 88,358,849 (GRCm39) V220A probably damaging Het
Tagln2 T C 1: 172,333,476 (GRCm39) I110T probably benign Het
Taok1 T C 11: 77,432,627 (GRCm39) T729A probably benign Het
Tgfbrap1 C T 1: 43,106,759 (GRCm39) V75I possibly damaging Het
Tnfrsf21 A G 17: 43,327,957 (GRCm39) T24A probably benign Het
Tnxb T A 17: 34,932,131 (GRCm39) D2221E probably damaging Het
Triml1 A G 8: 43,583,603 (GRCm39) S333P probably damaging Het
Trp53bp1 C A 2: 121,029,594 (GRCm39) R1862L probably damaging Het
Tsc22d1 T G 14: 76,655,732 (GRCm39) I737S possibly damaging Het
U2af2 A T 7: 5,082,273 (GRCm39) K462N possibly damaging Het
Ubap2 A C 4: 41,233,631 (GRCm39) N86K probably damaging Het
Uso1 A G 5: 92,343,207 (GRCm39) K764E probably benign Het
Vmn1r192 T A 13: 22,372,122 (GRCm39) M33L probably benign Het
Other mutations in Ankrd27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Ankrd27 APN 7 35,313,881 (GRCm39) missense probably damaging 0.99
IGL02205:Ankrd27 APN 7 35,316,364 (GRCm39) missense probably damaging 1.00
IGL02372:Ankrd27 APN 7 35,332,461 (GRCm39) splice site probably null
IGL02629:Ankrd27 APN 7 35,325,121 (GRCm39) missense probably benign 0.00
IGL03394:Ankrd27 APN 7 35,306,523 (GRCm39) splice site probably null
deep_blue UTSW 7 35,307,880 (GRCm39) missense probably benign 0.01
Rapture UTSW 7 35,302,009 (GRCm39) critical splice donor site probably null
R0008:Ankrd27 UTSW 7 35,303,125 (GRCm39) missense probably benign 0.11
R0008:Ankrd27 UTSW 7 35,303,125 (GRCm39) missense probably benign 0.11
R0233:Ankrd27 UTSW 7 35,300,985 (GRCm39) missense probably damaging 1.00
R0233:Ankrd27 UTSW 7 35,300,985 (GRCm39) missense probably damaging 1.00
R0240:Ankrd27 UTSW 7 35,318,864 (GRCm39) missense probably damaging 1.00
R0240:Ankrd27 UTSW 7 35,318,864 (GRCm39) missense probably damaging 1.00
R0281:Ankrd27 UTSW 7 35,318,796 (GRCm39) missense probably damaging 0.98
R0373:Ankrd27 UTSW 7 35,337,478 (GRCm39) missense probably benign 0.00
R0833:Ankrd27 UTSW 7 35,307,772 (GRCm39) missense probably damaging 1.00
R0836:Ankrd27 UTSW 7 35,307,772 (GRCm39) missense probably damaging 1.00
R1191:Ankrd27 UTSW 7 35,301,912 (GRCm39) missense probably damaging 0.96
R1394:Ankrd27 UTSW 7 35,315,294 (GRCm39) missense possibly damaging 0.80
R1395:Ankrd27 UTSW 7 35,315,294 (GRCm39) missense possibly damaging 0.80
R1493:Ankrd27 UTSW 7 35,307,790 (GRCm39) missense probably benign 0.11
R1648:Ankrd27 UTSW 7 35,303,278 (GRCm39) missense probably benign 0.00
R1664:Ankrd27 UTSW 7 35,306,551 (GRCm39) missense probably damaging 1.00
R1698:Ankrd27 UTSW 7 35,313,946 (GRCm39) missense probably benign 0.01
R1717:Ankrd27 UTSW 7 35,327,871 (GRCm39) missense possibly damaging 0.87
R1919:Ankrd27 UTSW 7 35,332,410 (GRCm39) missense probably benign
R1956:Ankrd27 UTSW 7 35,303,264 (GRCm39) missense probably damaging 1.00
R2276:Ankrd27 UTSW 7 35,315,265 (GRCm39) unclassified probably benign
R3000:Ankrd27 UTSW 7 35,307,755 (GRCm39) missense probably damaging 1.00
R4604:Ankrd27 UTSW 7 35,327,915 (GRCm39) missense probably damaging 1.00
R4647:Ankrd27 UTSW 7 35,337,659 (GRCm39) missense probably benign
R4838:Ankrd27 UTSW 7 35,291,231 (GRCm39) missense possibly damaging 0.87
R4896:Ankrd27 UTSW 7 35,307,800 (GRCm39) missense probably damaging 1.00
R4973:Ankrd27 UTSW 7 35,332,417 (GRCm39) missense probably benign
R5004:Ankrd27 UTSW 7 35,307,800 (GRCm39) missense probably damaging 1.00
R5069:Ankrd27 UTSW 7 35,327,860 (GRCm39) missense probably damaging 0.98
R5182:Ankrd27 UTSW 7 35,327,912 (GRCm39) missense probably damaging 1.00
R5330:Ankrd27 UTSW 7 35,315,351 (GRCm39) nonsense probably null
R5458:Ankrd27 UTSW 7 35,291,236 (GRCm39) missense probably damaging 1.00
R6293:Ankrd27 UTSW 7 35,307,885 (GRCm39) missense possibly damaging 0.65
R6341:Ankrd27 UTSW 7 35,326,828 (GRCm39) critical splice acceptor site probably null
R6721:Ankrd27 UTSW 7 35,311,976 (GRCm39) missense probably damaging 1.00
R7027:Ankrd27 UTSW 7 35,311,951 (GRCm39) missense probably benign 0.00
R7177:Ankrd27 UTSW 7 35,318,822 (GRCm39) missense probably damaging 1.00
R7231:Ankrd27 UTSW 7 35,327,871 (GRCm39) missense possibly damaging 0.87
R7289:Ankrd27 UTSW 7 35,330,674 (GRCm39) missense probably damaging 1.00
R7933:Ankrd27 UTSW 7 35,301,074 (GRCm39) splice site probably benign
R8011:Ankrd27 UTSW 7 35,316,306 (GRCm39) missense probably benign 0.01
R8198:Ankrd27 UTSW 7 35,307,880 (GRCm39) missense probably benign 0.01
R8214:Ankrd27 UTSW 7 35,313,944 (GRCm39) missense probably damaging 1.00
R8327:Ankrd27 UTSW 7 35,300,985 (GRCm39) missense probably damaging 1.00
R8461:Ankrd27 UTSW 7 35,326,911 (GRCm39) missense probably damaging 1.00
R8508:Ankrd27 UTSW 7 35,301,051 (GRCm39) nonsense probably null
R8676:Ankrd27 UTSW 7 35,302,009 (GRCm39) critical splice donor site probably null
R8901:Ankrd27 UTSW 7 35,332,243 (GRCm39) intron probably benign
R9276:Ankrd27 UTSW 7 35,319,995 (GRCm39) missense probably benign 0.01
R9286:Ankrd27 UTSW 7 35,326,869 (GRCm39) missense probably benign 0.05
R9400:Ankrd27 UTSW 7 35,316,282 (GRCm39) missense probably damaging 1.00
R9624:Ankrd27 UTSW 7 35,301,891 (GRCm39) missense possibly damaging 0.88
R9786:Ankrd27 UTSW 7 35,291,294 (GRCm39) missense possibly damaging 0.79
Z1177:Ankrd27 UTSW 7 35,303,303 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TGATCCAGAGGGCCCATTTC -3'
(R):5'- TCACAACAGCCTGTTTAGCTTC -3'

Sequencing Primer
(F):5'- CCATTTCACCTGAGAGGAGAGATTTC -3'
(R):5'- TAGCTTCAGTTCCAGGGGAC -3'
Posted On 2018-09-12