Incidental Mutation 'R1191:Ankrd27'
ID 100796
Institutional Source Beutler Lab
Gene Symbol Ankrd27
Ensembl Gene ENSMUSG00000034867
Gene Name ankyrin repeat domain 27
Synonyms Varp, D330003H11Rik
MMRRC Submission 039263-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1191 (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 C at 35301912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 144 (F144L)
Ref Sequence ENSEMBL: ENSMUSP00000140259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000186245] [ENSMUST00000188906] [ENSMUST00000190503] [ENSMUST00000206157] [ENSMUST00000206472]
AlphaFold Q3UMR0
Predicted Effect probably damaging
Transcript: ENSMUST00000040844
AA Change: F144L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: F144L

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 possibly damaging
Transcript: ENSMUST00000186245
AA Change: F144L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: F144L

DomainStartEndE-ValueType
Blast:ANK 8 37 1e-8 BLAST
VPS9 264 377 2.19e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188906
SMART Domains Protein: ENSMUSP00000139753
Gene: ENSMUSG00000034867

DomainStartEndE-ValueType
Blast:ANK 8 37 4e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000190503
AA Change: F144L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: F144L

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 possibly damaging
Transcript: ENSMUST00000206472
AA Change: F144L

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.1%
  • 20x: 87.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C8b C T 4: 104,650,520 (GRCm39) P377S probably damaging Het
Cfi C A 3: 129,662,176 (GRCm39) T385N probably benign Het
Col15a1 G T 4: 47,254,083 (GRCm39) G300* probably null Het
Crlf1 G A 8: 70,951,478 (GRCm39) C119Y probably damaging Het
Dcaf4 A T 12: 83,582,741 (GRCm39) S279C probably damaging Het
Gde1 A T 7: 118,304,664 (GRCm39) H70Q probably damaging Het
Gpt2 A T 8: 86,235,901 (GRCm39) N179I probably damaging Het
Grik5 G A 7: 24,757,750 (GRCm39) Q410* probably null Het
Hspa2 C T 12: 76,452,655 (GRCm39) R450W probably damaging Het
Idh3b A T 2: 130,123,810 (GRCm39) M118K probably benign Het
Ighv5-21 T C 12: 114,286,423 (GRCm39) probably benign Het
Il12rb2 C T 6: 67,275,200 (GRCm39) V642M possibly damaging Het
Iqcg A G 16: 32,870,313 (GRCm39) V60A probably benign Het
Irx6 T A 8: 93,403,580 (GRCm39) Y102N probably damaging Het
Itgb6 C T 2: 60,483,481 (GRCm39) probably null Het
Mmp27 A T 9: 7,579,067 (GRCm39) probably null Het
Or10d5j A T 9: 39,868,264 (GRCm39) M1K probably null Het
Or1j21 T A 2: 36,683,350 (GRCm39) M34K probably damaging Het
Or2f2 C A 6: 42,767,451 (GRCm39) H159Q probably benign Het
Or5k8 T A 16: 58,644,922 (GRCm39) Y50F probably benign Het
Or8c8 G T 9: 38,165,501 (GRCm39) V263F probably damaging Het
Pcdhb16 A G 18: 37,612,926 (GRCm39) R629G probably damaging Het
Pde3b A T 7: 114,118,810 (GRCm39) M650L probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Skint3 T A 4: 112,092,939 (GRCm39) M1K probably null Het
Strn T C 17: 78,999,855 (GRCm39) Q127R possibly damaging Het
Taar2 T G 10: 23,816,927 (GRCm39) W156G probably damaging Het
Trpt1 G T 19: 6,974,138 (GRCm39) M45I probably benign Het
Ubap2l T C 3: 89,930,882 (GRCm39) T357A probably damaging Het
Ubr3 C T 2: 69,851,525 (GRCm39) R1831* probably null Het
Unc79 T A 12: 103,013,271 (GRCm39) Y287* probably null Het
Utrn T A 10: 12,509,777 (GRCm39) K2398N probably benign Het
Vav2 A T 2: 27,182,792 (GRCm39) probably null Het
Vps9d1 A T 8: 123,974,706 (GRCm39) H249Q possibly damaging Het
Vwf T A 6: 125,576,215 (GRCm39) C432S probably damaging Het
Zfp369 T A 13: 65,439,776 (GRCm39) Y153* probably null Het
Zfp760 C T 17: 21,942,286 (GRCm39) P487L probably damaging Het
Zswim2 A C 2: 83,754,039 (GRCm39) V207G possibly 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
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
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'- GTTGTCCCTTGGGTCACACATCAC -3'
(R):5'- CTGGAGCAGACAGACTAATGGCAC -3'

Sequencing Primer
(F):5'- ATCCTCTCTTGGAAGCgtg -3'
(R):5'- TGGCACTGGAGTGAGTGAC -3'
Posted On 2014-01-15