Incidental Mutation 'R0833:Ankrd27'
ID 77638
Institutional Source Beutler Lab
Gene Symbol Ankrd27
Ensembl Gene ENSMUSG00000034867
Gene Name ankyrin repeat domain 27
Synonyms Varp, D330003H11Rik
MMRRC Submission 039012-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0833 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 35285669-35338651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35307772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 337 (N337S)
Ref Sequence ENSEMBL: ENSMUSP00000140259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000186245] [ENSMUST00000190503] [ENSMUST00000206157] [ENSMUST00000206472]
AlphaFold Q3UMR0
Predicted Effect probably damaging
Transcript: ENSMUST00000040844
AA Change: N337S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: N337S

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: N337S

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: N337S

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: N337S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: N337S

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: N337S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.8298 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (97/97)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
3110082I17Rik A G 5: 139,349,875 (GRCm39) V58A possibly damaging Het
4932415M13Rik A T 17: 54,031,374 (GRCm39) noncoding transcript Het
Aldh1a7 C T 19: 20,679,607 (GRCm39) V390M probably damaging Het
Alg14 A G 3: 121,092,259 (GRCm39) H34R probably damaging Het
Apoa2 T A 1: 171,052,948 (GRCm39) probably benign Het
Arl2 T G 19: 6,186,052 (GRCm39) K126T probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Astl T C 2: 127,184,339 (GRCm39) F21L probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Ceacam23 C A 7: 17,638,906 (GRCm39) A301E possibly damaging Het
Ces1f A T 8: 93,996,652 (GRCm39) S214T probably damaging Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Col26a1 A G 5: 136,794,154 (GRCm39) probably null Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
D17H6S53E A T 17: 35,346,385 (GRCm39) probably null Het
Dnah11 G A 12: 118,160,397 (GRCm39) A111V probably benign Het
Dyrk2 T C 10: 118,697,027 (GRCm39) H77R probably benign Het
Epha3 A G 16: 63,423,882 (GRCm39) probably benign Het
Epn2 T C 11: 61,410,317 (GRCm39) N611S probably benign Het
Erich6 A C 3: 58,526,365 (GRCm39) probably benign Het
Fam217b T C 2: 178,062,782 (GRCm39) S249P probably benign Het
Fam219b A G 9: 57,445,299 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Ftdc2 G A 16: 58,455,886 (GRCm39) S129L probably damaging Het
Gm14496 T C 2: 181,638,059 (GRCm39) W378R probably damaging Het
Gm57858 A G 3: 36,074,362 (GRCm39) probably benign Het
Gm8674 A T 13: 50,058,611 (GRCm39) noncoding transcript Het
Grap T A 11: 61,551,065 (GRCm39) D32E possibly damaging Het
Grk2 C A 19: 4,339,385 (GRCm39) L428F probably damaging Het
Grm8 T A 6: 27,363,178 (GRCm39) E779V probably damaging Het
Hipk1 A G 3: 103,661,612 (GRCm39) S670P probably damaging Het
Ilrun A T 17: 28,005,112 (GRCm39) S148R probably damaging Het
Itgae A T 11: 73,020,032 (GRCm39) M845L probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Itpka T A 2: 119,581,312 (GRCm39) N448K probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc45 T A 11: 120,609,019 (GRCm39) probably null Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Meis1 G A 11: 18,831,767 (GRCm39) H424Y possibly damaging Het
Mst1r A G 9: 107,791,975 (GRCm39) N837S probably benign Het
Mst1r G A 9: 107,790,366 (GRCm39) V660I probably benign Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or51g1 C A 7: 102,634,043 (GRCm39) L109F possibly damaging Het
Or8b12b T C 9: 37,684,372 (GRCm39) V139A probably benign Het
Otog C T 7: 45,918,786 (GRCm39) T954I possibly damaging Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Phlpp2 A G 8: 110,663,738 (GRCm39) T926A probably damaging Het
Plec GGCAGCAG GGCAGCAGCAG 15: 76,066,107 (GRCm39) probably benign Het
Plekha5 T A 6: 140,535,360 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel18 G A 4: 101,767,294 (GRCm39) C181Y probably damaging Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rasd1 A T 11: 59,855,379 (GRCm39) F85I probably damaging Het
Rgs1 A T 1: 144,123,671 (GRCm39) S85T probably damaging Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Shc1 A G 3: 89,330,276 (GRCm39) D70G probably damaging Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc30a7 T A 3: 115,783,789 (GRCm39) probably null Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Stard9 T G 2: 120,527,480 (GRCm39) S1246A possibly damaging Het
Stxbp5 A T 10: 9,740,843 (GRCm39) S116R probably damaging Het
Syvn1 C T 19: 6,102,483 (GRCm39) P517L probably benign Het
Tas2r105 T C 6: 131,664,393 (GRCm39) I12V probably benign Het
Tas2r121 A G 6: 132,677,325 (GRCm39) S216P probably damaging Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tgm3 C T 2: 129,868,602 (GRCm39) probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Ucp3 T A 7: 100,128,748 (GRCm39) C25* probably null Het
Ugt3a1 A G 15: 9,370,236 (GRCm39) D460G probably damaging Het
Urb1 T C 16: 90,592,336 (GRCm39) D308G possibly damaging Het
Ush1g G T 11: 115,209,694 (GRCm39) R167S possibly damaging Het
Vav3 A G 3: 109,554,995 (GRCm39) N81S possibly damaging Het
Vmn2r108 A T 17: 20,691,721 (GRCm39) D267E probably benign Het
Zng1 A G 19: 24,918,203 (GRCm39) 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
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
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'- CAGTGCAGGTCATCTCCAGCTTTC -3'
(R):5'- CCGGCTACTGACAGTGTAAATCCC -3'

Sequencing Primer
(F):5'- GCCTTTCCCAGGAAGTAACTCATAG -3'
(R):5'- TGACAGTGTAAATCCCACTGG -3'
Posted On 2013-10-16