Incidental Mutation 'R3000:Ankrd27'
ID 257251
Institutional Source Beutler Lab
Gene Symbol Ankrd27
Ensembl Gene ENSMUSG00000034867
Gene Name ankyrin repeat domain 27
Synonyms Varp, D330003H11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3000 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 35285669-35338651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35307755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 331 (N331K)
Ref Sequence ENSEMBL: ENSMUSP00000146118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000186245] [ENSMUST00000190503] [ENSMUST00000206157] [ENSMUST00000206472]
AlphaFold Q3UMR0
Predicted Effect probably damaging
Transcript: ENSMUST00000040844
AA Change: N331K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: N331K

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 damaging
Transcript: ENSMUST00000186245
AA Change: N331K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: N331K

DomainStartEndE-ValueType
Blast:ANK 8 37 1e-8 BLAST
VPS9 264 377 2.19e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187567
Predicted Effect probably damaging
Transcript: ENSMUST00000190503
AA Change: N331K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: N331K

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 noncoding transcript
Transcript: ENSMUST00000205801
Predicted Effect probably benign
Transcript: ENSMUST00000206157
Predicted Effect probably damaging
Transcript: ENSMUST00000206472
AA Change: N331K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 A G 8: 23,609,447 (GRCm39) K1364E probably damaging Het
Bco2 C A 9: 50,450,229 (GRCm39) D324Y probably damaging Het
Cpne1 A G 2: 155,915,342 (GRCm39) *211R probably null Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Khdrbs1 A T 4: 129,619,456 (GRCm39) H228Q probably damaging Het
Lrfn1 G A 7: 28,166,832 (GRCm39) G742E probably damaging Het
Lrrc45 T A 11: 120,609,273 (GRCm39) D377E probably benign Het
Marf1 T A 16: 13,960,505 (GRCm39) Y513F possibly damaging Het
Mcoln3 T A 3: 145,839,662 (GRCm39) I338N possibly damaging Het
Mep1b G A 18: 21,226,361 (GRCm39) G408S probably damaging Het
Pdlim5 C A 3: 142,017,892 (GRCm39) Q125H probably damaging Het
Peg10 CCAACAACAACAACAACAACAACA CCAACAACAACAACAACAACA 6: 4,754,276 (GRCm39) probably benign Het
Pkd1 G A 17: 24,813,460 (GRCm39) R4000H probably damaging Het
Ripor3 A T 2: 167,833,100 (GRCm39) Y357N probably damaging Het
Smchd1 A T 17: 71,670,033 (GRCm39) D1679E probably benign Het
Stac3 C T 10: 127,344,016 (GRCm39) R305C probably benign Het
Tex10 A T 4: 48,459,393 (GRCm39) probably null Het
Ttc21a T C 9: 119,781,320 (GRCm39) Y498H probably benign Het
Txnrd2 T C 16: 18,273,263 (GRCm39) F239S probably damaging Het
Vac14 T A 8: 111,360,949 (GRCm39) L173Q probably damaging Het
Zfhx4 T A 3: 5,468,714 (GRCm39) N2982K probably damaging 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
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
R6860:Ankrd27 UTSW 7 35,327,952 (GRCm39) missense possibly damaging 0.62
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'- TCCAGCTTTCTAATAGCCAGCC -3'
(R):5'- AAACTCTCAGCCACAGAGGG -3'

Sequencing Primer
(F):5'- CCCAGGAAGTAACTCATAGTTTTC -3'
(R):5'- TCTCAGCCACAGAGGGAGGAG -3'
Posted On 2015-01-11