Incidental Mutation 'R6341:Ankrd27'
ID 514388
Institutional Source Beutler Lab
Gene Symbol Ankrd27
Ensembl Gene ENSMUSG00000034867
Gene Name ankyrin repeat domain 27
Synonyms Varp, D330003H11Rik
MMRRC Submission 044495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6341 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 35285669-35338651 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to T at 35326828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000040844] [ENSMUST00000040844] [ENSMUST00000040844] [ENSMUST00000190503] [ENSMUST00000190503] [ENSMUST00000190503] [ENSMUST00000190503] [ENSMUST00000206472] [ENSMUST00000206632]
AlphaFold Q3UMR0
Predicted Effect probably null
Transcript: ENSMUST00000040844
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

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 null
Transcript: ENSMUST00000040844
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

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 null
Transcript: ENSMUST00000040844
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

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 null
Transcript: ENSMUST00000040844
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

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 null
Transcript: ENSMUST00000187807
Predicted Effect probably null
Transcript: ENSMUST00000187807
Predicted Effect probably null
Transcript: ENSMUST00000187807
Predicted Effect probably null
Transcript: ENSMUST00000187807
Predicted Effect probably null
Transcript: ENSMUST00000190503
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

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 null
Transcript: ENSMUST00000190503
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

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 null
Transcript: ENSMUST00000190503
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

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 null
Transcript: ENSMUST00000190503
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,924,364 (GRCm39) D658G possibly damaging Het
Amz2 A G 11: 109,319,653 (GRCm39) H13R probably benign Het
Atp8a1 T C 5: 67,840,270 (GRCm39) T704A possibly damaging Het
Cabin1 A T 10: 75,494,573 (GRCm39) M1602K probably damaging Het
Ccdc74a T C 16: 17,465,978 (GRCm39) S105P probably damaging Het
Cdh26 T A 2: 178,113,366 (GRCm39) probably null Het
Cxcl10 T C 5: 92,496,072 (GRCm39) I22V probably benign Het
Cyp2c68 A C 19: 39,700,933 (GRCm39) V295G possibly damaging Het
Ddx10 A T 9: 53,115,551 (GRCm39) D594E probably benign Het
Ddx5 T C 11: 106,676,368 (GRCm39) probably null Het
Duox1 T C 2: 122,168,202 (GRCm39) I1109T probably damaging Het
Dusp15 T C 2: 152,788,204 (GRCm39) probably null Het
Ecel1 A G 1: 87,078,193 (GRCm39) probably null Het
Efcab6 T G 15: 83,820,139 (GRCm39) Q714P possibly damaging Het
Erc1 A G 6: 119,754,959 (GRCm39) L464P possibly damaging Het
Fam234a T A 17: 26,432,667 (GRCm39) H494L probably damaging Het
Gfpt1 T C 6: 87,065,127 (GRCm39) V694A probably damaging Het
Gli2 T C 1: 118,763,954 (GRCm39) D1399G probably damaging Het
Gm10110 T C 14: 90,134,144 (GRCm39) noncoding transcript Het
Hdac3 A G 18: 38,077,217 (GRCm39) L219P probably damaging Het
Hlcs A G 16: 94,032,022 (GRCm39) F52S probably damaging Het
Ints7 C A 1: 191,345,239 (GRCm39) T643K probably damaging Het
Ireb2 A G 9: 54,816,064 (GRCm39) I878M probably damaging Het
Itga3 A T 11: 94,946,677 (GRCm39) probably null Het
Lrfn5 T A 12: 61,890,368 (GRCm39) Y552* probably null Het
Mafb T C 2: 160,208,371 (GRCm39) T76A probably damaging Het
Man2b1 A T 8: 85,822,028 (GRCm39) S748C probably damaging Het
Mmp15 G T 8: 96,092,091 (GRCm39) probably null Het
Mmp17 A T 5: 129,679,019 (GRCm39) R335W probably damaging Het
Muc5ac A T 7: 141,355,229 (GRCm39) D1005V probably damaging Het
Myh3 T C 11: 66,973,822 (GRCm39) F165S probably benign Het
Nacc1 T C 8: 85,401,420 (GRCm39) D419G probably benign Het
Neb G A 2: 52,099,486 (GRCm39) S4545L probably damaging Het
Niban3 C T 8: 72,052,721 (GRCm39) P65L probably damaging Het
Npas2 T C 1: 39,339,768 (GRCm39) I106T probably damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or5b12 T C 19: 12,896,843 (GRCm39) T277A probably benign Het
Pde4dip T A 3: 97,602,227 (GRCm39) Q2283L probably benign Het
Phax C T 18: 56,706,173 (GRCm39) T21M possibly damaging Het
Pitpnm1 A T 19: 4,152,829 (GRCm39) K79* probably null Het
Pkd1 T A 17: 24,799,201 (GRCm39) F2807I probably damaging Het
Plekha4 C T 7: 45,190,572 (GRCm39) R427C probably damaging Het
Ptprj A T 2: 90,288,693 (GRCm39) F757L probably benign Het
Rad1 A G 15: 10,492,907 (GRCm39) D208G probably damaging Het
Rangrf T A 11: 68,863,538 (GRCm39) N156I probably benign Het
Rasl11b T C 5: 74,359,037 (GRCm39) S181P probably damaging Het
Rigi T A 4: 40,222,199 (GRCm39) probably null Het
Rlf G A 4: 121,006,557 (GRCm39) Q808* probably null Het
Rogdi G T 16: 4,831,241 (GRCm39) probably null Het
Sec24a A T 11: 51,608,603 (GRCm39) V573D probably damaging Het
Sorbs2 A G 8: 46,223,615 (GRCm39) T200A probably damaging Het
Srgap2 C T 1: 131,219,367 (GRCm39) R259H probably benign Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stt3a A T 9: 36,662,592 (GRCm39) H222Q probably damaging Het
Tcaf3 A T 6: 42,574,193 (GRCm39) D6E possibly damaging Het
Tdrd12 C T 7: 35,189,473 (GRCm39) R421H probably damaging Het
Top3b T C 16: 16,696,935 (GRCm39) M62T probably damaging Het
Trhr T G 15: 44,092,694 (GRCm39) Y310* probably null Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Usp34 A G 11: 23,331,353 (GRCm39) T1085A probably damaging Het
Vmn1r179 T A 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r31 A T 6: 58,448,995 (GRCm39) M290K probably benign Het
Wdr75 T C 1: 45,841,291 (GRCm39) probably null Het
Wnk1 A T 6: 119,925,546 (GRCm39) V1306D probably damaging Het
Xkr4 T C 1: 3,741,001 (GRCm39) T191A probably benign Het
Zc3h15 A G 2: 83,491,567 (GRCm39) E265G probably benign Het
Zcchc9 A G 13: 91,948,816 (GRCm39) F41S possibly damaging Het
Zfp251 T C 15: 76,738,337 (GRCm39) H247R probably damaging Het
Zfp433 A G 10: 81,555,957 (GRCm39) E152G probably damaging Het
Zfp770 A T 2: 114,027,240 (GRCm39) S276R 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
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'- TTCTGAAGAAGTGGGAGGTCAC -3'
(R):5'- ATTTTGCTACCCGGGAGATGG -3'

Sequencing Primer
(F):5'- CACTCGTGGGCCATGTTGAG -3'
(R):5'- ATACCTGAAAGTGCCCCTGCTG -3'
Posted On 2018-04-27