Incidental Mutation 'R4720:Ankar'
ID 354340
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 041958-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4720 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 72642980-72700579 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72699011 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 4 (I4K)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]
AlphaFold A2RT91
Predicted Effect possibly damaging
Transcript: ENSMUST00000053499
AA Change: I4K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I4K

DomainStartEndE-ValueType
low complexity region 46 51 N/A INTRINSIC
low complexity region 484 496 N/A INTRINSIC
ANK 532 561 1.25e2 SMART
ANK 582 611 3.49e0 SMART
ANK 615 644 4.44e2 SMART
ANK 651 680 3.8e-1 SMART
ANK 684 714 9.87e0 SMART
ARM 744 784 5.96e-3 SMART
ARM 785 825 4.09e0 SMART
Blast:ARM 827 865 1e-15 BLAST
ARM 867 907 8.34e0 SMART
ARM 909 949 8.34e0 SMART
Blast:ARM 951 991 2e-13 BLAST
ARM 1034 1077 4.82e1 SMART
ARM 1084 1123 1.3e1 SMART
ARM 1257 1297 6.01e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211837
AA Change: I4K

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000212573
Predicted Effect probably benign
Transcript: ENSMUST00000212710
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,127,422 (GRCm38) I1124T probably damaging Het
Acacb A G 5: 114,229,914 (GRCm38) T1658A possibly damaging Het
Acvrl1 C A 15: 101,135,773 (GRCm38) P112Q probably damaging Het
Als2cr12 T C 1: 58,678,348 (GRCm38) I135V possibly damaging Het
Ankfn1 G C 11: 89,441,426 (GRCm38) D431E possibly damaging Het
Apobec4 T C 1: 152,756,674 (GRCm38) V151A possibly damaging Het
Atp10b A G 11: 43,203,122 (GRCm38) S498G probably benign Het
Azin1 A G 15: 38,493,500 (GRCm38) V293A probably benign Het
Ccdc88b T C 19: 6,857,715 (GRCm38) E46G probably damaging Het
Ccdc96 T C 5: 36,484,875 (GRCm38) probably benign Het
Ccnyl1 A G 1: 64,713,131 (GRCm38) D169G probably benign Het
Cdca3 T A 6: 124,832,164 (GRCm38) V89E probably damaging Het
Cdh19 A T 1: 110,895,381 (GRCm38) probably null Het
Chka G A 19: 3,886,375 (GRCm38) V238I probably damaging Het
Cntn3 T C 6: 102,242,022 (GRCm38) K546E possibly damaging Het
Crybg3 A G 16: 59,539,817 (GRCm38) V787A probably damaging Het
Dlgap3 T C 4: 127,195,715 (GRCm38) probably null Het
Dnah8 C T 17: 30,683,634 (GRCm38) L889F probably benign Het
Dnah9 T C 11: 66,076,358 (GRCm38) E1658G probably damaging Het
Dnajc11 A G 4: 151,968,539 (GRCm38) D102G probably damaging Het
Dync1i2 T G 2: 71,233,674 (GRCm38) S121A probably damaging Het
Ece1 G A 4: 137,957,175 (GRCm38) E591K probably damaging Het
Enthd1 G A 15: 80,560,309 (GRCm38) S15L probably damaging Het
Epb41l2 T A 10: 25,471,626 (GRCm38) H372Q probably damaging Het
Errfi1 T A 4: 150,866,747 (GRCm38) Y211N probably damaging Het
Fam193b G A 13: 55,543,437 (GRCm38) T208M probably benign Het
Fmnl2 C T 2: 53,107,540 (GRCm38) T501M possibly damaging Het
Gkn3 C T 6: 87,383,525 (GRCm38) A163T probably damaging Het
Gm340 G C 19: 41,585,895 (GRCm38) A1030P probably benign Het
Gm4841 G T 18: 60,270,063 (GRCm38) D319E probably benign Het
Gm5724 C A 6: 141,723,222 (GRCm38) A495S probably damaging Het
Gucd1 A G 10: 75,509,660 (GRCm38) F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 123,864,689 (GRCm38) probably null Het
Helz2 T C 2: 181,238,417 (GRCm38) D502G probably damaging Het
Hspa2 A G 12: 76,404,865 (GRCm38) E111G possibly damaging Het
Htr2a T A 14: 74,645,059 (GRCm38) S162T probably damaging Het
Ift80 A G 3: 68,962,290 (GRCm38) Y223H possibly damaging Het
Il1rl1 A G 1: 40,446,678 (GRCm38) K330E probably benign Het
Il23r A T 6: 67,423,661 (GRCm38) F562I probably damaging Het
Isx T C 8: 74,873,859 (GRCm38) probably null Het
Jcad G A 18: 4,674,055 (GRCm38) V606I probably benign Het
Kcnn2 A T 18: 45,683,120 (GRCm38) T333S possibly damaging Het
Kcnq5 C T 1: 21,403,050 (GRCm38) A630T probably damaging Het
Kif2c T C 4: 117,171,749 (GRCm38) M188V probably benign Het
Kntc1 T C 5: 123,765,023 (GRCm38) V321A possibly damaging Het
Krtap4-8 A T 11: 99,780,445 (GRCm38) probably benign Het
Lgals3bp A C 11: 118,398,469 (GRCm38) L52R probably damaging Het
Lipk C A 19: 34,021,699 (GRCm38) H126Q probably damaging Het
Lpgat1 T C 1: 191,763,667 (GRCm38) Y323H probably damaging Het
Lrp2 T G 2: 69,481,173 (GRCm38) N2654H probably damaging Het
Lsm14b C T 2: 180,027,981 (GRCm38) Q6* probably null Het
Lysmd3 C T 13: 81,669,465 (GRCm38) A187V possibly damaging Het
Map2k5 A G 9: 63,293,719 (GRCm38) S211P probably damaging Het
Mlph A T 1: 90,941,697 (GRCm38) I474F probably damaging Het
Mpped2 T C 2: 106,783,746 (GRCm38) S142P probably damaging Het
Nemf A C 12: 69,324,288 (GRCm38) M678R probably benign Het
Nfe2l1 A T 11: 96,827,689 (GRCm38) Y7N probably damaging Het
Nfkbie T G 17: 45,556,306 (GRCm38) D122E probably benign Het
Noc3l C A 19: 38,789,622 (GRCm38) A783S probably benign Het
Nol8 T C 13: 49,662,753 (GRCm38) V761A probably damaging Het
Nvl A G 1: 181,101,587 (GRCm38) L743P probably damaging Het
Olfr3 T A 2: 36,812,472 (GRCm38) I207F probably benign Het
Plcb1 A G 2: 135,251,747 (GRCm38) K160R possibly damaging Het
Plekhg3 G T 12: 76,578,322 (GRCm38) G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,075,420 (GRCm38) probably null Het
Popdc3 G A 10: 45,314,906 (GRCm38) V38I probably benign Het
Prdx3 A T 19: 60,870,113 (GRCm38) V114D possibly damaging Het
Prkdc T A 16: 15,667,715 (GRCm38) S469T probably benign Het
Rbm22 G A 18: 60,564,391 (GRCm38) R56H probably damaging Het
Reln A T 5: 22,286,896 (GRCm38) F113I possibly damaging Het
Rims1 A G 1: 22,427,481 (GRCm38) Y808H probably damaging Het
Rsbn1 C A 3: 103,929,020 (GRCm38) T458N possibly damaging Het
Serpina3b A G 12: 104,130,630 (GRCm38) S57G possibly damaging Het
Skor2 G T 18: 76,861,183 (GRCm38) probably null Het
Slc22a4 A T 11: 53,988,893 (GRCm38) Y447N probably damaging Het
Stx19 G T 16: 62,822,319 (GRCm38) R166L probably damaging Het
Svep1 T C 4: 58,205,869 (GRCm38) T170A possibly damaging Het
Sycp2 T G 2: 178,374,432 (GRCm38) S746R probably benign Het
Tchh G T 3: 93,447,882 (GRCm38) R1543L unknown Het
Tjp2 T C 19: 24,100,805 (GRCm38) D908G probably damaging Het
Ttc8 C A 12: 98,979,809 (GRCm38) A452E possibly damaging Het
Unc5a T A 13: 55,003,883 (GRCm38) W709R probably null Het
Unc80 T A 1: 66,510,792 (GRCm38) S736R possibly damaging Het
Vmn2r100 C A 17: 19,522,526 (GRCm38) H387Q probably benign Het
Vmn2r39 C T 7: 9,023,470 (GRCm38) probably null Het
Vmn2r88 T A 14: 51,413,245 (GRCm38) D138E probably benign Het
Vwce T C 19: 10,648,467 (GRCm38) F448L possibly damaging Het
Wdr75 C T 1: 45,822,485 (GRCm38) S695F probably benign Het
Zfand4 T C 6: 116,288,161 (GRCm38) probably null Het
Zfp511 T A 7: 140,037,511 (GRCm38) probably null Het
Zfyve9 T C 4: 108,644,368 (GRCm38) K584E possibly damaging Het
Other mutations in Ankar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Ankar APN 1 72,690,131 (GRCm38) missense probably damaging 1.00
IGL01013:Ankar APN 1 72,650,989 (GRCm38) missense possibly damaging 0.90
IGL01135:Ankar APN 1 72,665,219 (GRCm38) missense probably benign 0.28
IGL01824:Ankar APN 1 72,651,727 (GRCm38) missense probably benign 0.40
IGL01885:Ankar APN 1 72,658,703 (GRCm38) missense probably damaging 1.00
IGL01932:Ankar APN 1 72,698,987 (GRCm38) missense probably benign 0.25
IGL02143:Ankar APN 1 72,658,649 (GRCm38) critical splice donor site probably null
IGL02326:Ankar APN 1 72,666,355 (GRCm38) missense probably damaging 1.00
IGL02445:Ankar APN 1 72,666,365 (GRCm38) missense probably benign 0.05
IGL02606:Ankar APN 1 72,690,285 (GRCm38) missense possibly damaging 0.61
IGL02635:Ankar APN 1 72,652,431 (GRCm38) missense possibly damaging 0.93
IGL02680:Ankar APN 1 72,670,116 (GRCm38) missense probably damaging 1.00
IGL02704:Ankar APN 1 72,652,343 (GRCm38) missense possibly damaging 0.88
IGL03086:Ankar APN 1 72,643,278 (GRCm38) missense possibly damaging 0.84
IGL03269:Ankar APN 1 72,665,201 (GRCm38) missense probably damaging 0.99
IGL03368:Ankar APN 1 72,675,813 (GRCm38) missense probably damaging 1.00
R0050:Ankar UTSW 1 72,656,164 (GRCm38) missense probably damaging 1.00
R0050:Ankar UTSW 1 72,656,164 (GRCm38) missense probably damaging 1.00
R0488:Ankar UTSW 1 72,658,732 (GRCm38) missense probably damaging 1.00
R0650:Ankar UTSW 1 72,656,221 (GRCm38) splice site probably benign
R1121:Ankar UTSW 1 72,651,663 (GRCm38) splice site probably null
R1163:Ankar UTSW 1 72,688,705 (GRCm38) missense possibly damaging 0.82
R1300:Ankar UTSW 1 72,643,164 (GRCm38) missense probably benign 0.00
R1309:Ankar UTSW 1 72,674,004 (GRCm38) missense possibly damaging 0.59
R1366:Ankar UTSW 1 72,698,649 (GRCm38) missense probably damaging 1.00
R1456:Ankar UTSW 1 72,665,118 (GRCm38) missense probably benign 0.34
R1495:Ankar UTSW 1 72,643,291 (GRCm38) missense probably benign
R1583:Ankar UTSW 1 72,679,555 (GRCm38) splice site probably benign
R1635:Ankar UTSW 1 72,650,138 (GRCm38) missense probably damaging 0.99
R1975:Ankar UTSW 1 72,658,441 (GRCm38) missense possibly damaging 0.95
R2036:Ankar UTSW 1 72,666,530 (GRCm38) nonsense probably null
R2511:Ankar UTSW 1 72,658,694 (GRCm38) missense probably damaging 1.00
R2965:Ankar UTSW 1 72,675,820 (GRCm38) missense probably benign 0.00
R3404:Ankar UTSW 1 72,643,093 (GRCm38) nonsense probably null
R3417:Ankar UTSW 1 72,658,976 (GRCm38) critical splice donor site probably null
R4072:Ankar UTSW 1 72,688,592 (GRCm38) missense probably damaging 1.00
R4231:Ankar UTSW 1 72,658,542 (GRCm38) missense probably benign 0.23
R4447:Ankar UTSW 1 72,687,789 (GRCm38) missense possibly damaging 0.60
R4632:Ankar UTSW 1 72,647,184 (GRCm38) missense probably benign 0.01
R4754:Ankar UTSW 1 72,698,694 (GRCm38) missense probably damaging 1.00
R4884:Ankar UTSW 1 72,698,807 (GRCm38) missense probably damaging 0.97
R5068:Ankar UTSW 1 72,680,210 (GRCm38) splice site probably null
R5069:Ankar UTSW 1 72,680,210 (GRCm38) splice site probably null
R5070:Ankar UTSW 1 72,680,210 (GRCm38) splice site probably null
R5189:Ankar UTSW 1 72,658,414 (GRCm38) missense probably benign 0.01
R5247:Ankar UTSW 1 72,680,184 (GRCm38) missense probably benign 0.08
R5322:Ankar UTSW 1 72,690,386 (GRCm38) splice site probably null
R5345:Ankar UTSW 1 72,670,151 (GRCm38) missense possibly damaging 0.94
R5864:Ankar UTSW 1 72,659,165 (GRCm38) missense probably benign 0.00
R5976:Ankar UTSW 1 72,643,291 (GRCm38) missense probably benign
R6003:Ankar UTSW 1 72,698,887 (GRCm38) missense probably damaging 1.00
R6042:Ankar UTSW 1 72,674,054 (GRCm38) nonsense probably null
R6296:Ankar UTSW 1 72,643,258 (GRCm38) missense probably damaging 1.00
R6488:Ankar UTSW 1 72,681,808 (GRCm38) critical splice donor site probably null
R6885:Ankar UTSW 1 72,643,036 (GRCm38) missense unknown
R6985:Ankar UTSW 1 72,658,482 (GRCm38) missense probably damaging 1.00
R7060:Ankar UTSW 1 72,656,113 (GRCm38) missense probably benign 0.18
R7099:Ankar UTSW 1 72,643,293 (GRCm38) missense probably damaging 0.99
R7194:Ankar UTSW 1 72,659,033 (GRCm38) missense probably benign 0.32
R7221:Ankar UTSW 1 72,650,231 (GRCm38) missense probably damaging 1.00
R7222:Ankar UTSW 1 72,666,355 (GRCm38) missense probably damaging 0.99
R7258:Ankar UTSW 1 72,651,727 (GRCm38) missense probably benign 0.40
R7303:Ankar UTSW 1 72,659,033 (GRCm38) missense probably benign 0.32
R7308:Ankar UTSW 1 72,651,794 (GRCm38) nonsense probably null
R7384:Ankar UTSW 1 72,658,465 (GRCm38) missense probably benign 0.00
R7424:Ankar UTSW 1 72,680,058 (GRCm38) missense probably damaging 1.00
R7464:Ankar UTSW 1 72,698,894 (GRCm38) missense possibly damaging 0.94
R7525:Ankar UTSW 1 72,688,641 (GRCm38) missense probably benign 0.18
R7618:Ankar UTSW 1 72,675,766 (GRCm38) missense probably benign 0.22
R7659:Ankar UTSW 1 72,690,135 (GRCm38) missense possibly damaging 0.95
R7974:Ankar UTSW 1 72,698,979 (GRCm38) nonsense probably null
R8008:Ankar UTSW 1 72,666,484 (GRCm38) missense possibly damaging 0.47
R8119:Ankar UTSW 1 72,647,001 (GRCm38) missense probably damaging 0.98
R8244:Ankar UTSW 1 72,651,024 (GRCm38) missense probably benign
R8342:Ankar UTSW 1 72,652,460 (GRCm38) missense probably damaging 1.00
R8494:Ankar UTSW 1 72,658,794 (GRCm38) missense probably benign 0.16
R8851:Ankar UTSW 1 72,652,376 (GRCm38) missense probably damaging 1.00
R8970:Ankar UTSW 1 72,652,337 (GRCm38) critical splice donor site probably null
R9228:Ankar UTSW 1 72,674,051 (GRCm38) missense probably benign 0.27
R9511:Ankar UTSW 1 72,680,002 (GRCm38) missense probably benign 0.23
R9577:Ankar UTSW 1 72,681,908 (GRCm38) missense probably benign 0.02
R9612:Ankar UTSW 1 72,665,135 (GRCm38) missense possibly damaging 0.65
R9647:Ankar UTSW 1 72,650,148 (GRCm38) missense probably damaging 1.00
R9803:Ankar UTSW 1 72,659,181 (GRCm38) missense possibly damaging 0.47
Z1176:Ankar UTSW 1 72,689,961 (GRCm38) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGCTGAGAACGAGCATCATCC -3'
(R):5'- CTCAGTAACCTTTGACTGAAAAGC -3'

Sequencing Primer
(F):5'- GAGAACGAGCATCATCCTTGGC -3'
(R):5'- TGATTGATGCAAAAGATTTTACAACC -3'
Posted On 2015-10-21