Incidental Mutation 'R6296:Ankar'
ID 508739
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 044407-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6296 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 72642980-72700579 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 72643258 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 1383 (T1383P)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]
AlphaFold A2RT91
Predicted Effect probably damaging
Transcript: ENSMUST00000053499
AA Change: T1383P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: T1383P

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 damaging
Transcript: ENSMUST00000211837
AA Change: T1382P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212057
Predicted Effect probably damaging
Transcript: ENSMUST00000212573
AA Change: T1165P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,195,754 (GRCm38) K277R probably damaging Het
Aatf T C 11: 84,473,100 (GRCm38) Y267C probably benign Het
Adcy5 A G 16: 35,303,710 (GRCm38) Y1253C probably damaging Het
Adgra3 G A 5: 49,960,847 (GRCm38) P1120S probably benign Het
Adm A G 7: 110,628,354 (GRCm38) T26A probably benign Het
Ahnak T G 19: 9,003,305 (GRCm38) V651G probably damaging Het
Akr7a5 G A 4: 139,318,221 (GRCm38) V358I probably benign Het
Bpifb6 G C 2: 153,906,892 (GRCm38) K269N possibly damaging Het
Cacna1c T C 6: 118,598,723 (GRCm38) E1927G possibly damaging Het
Cacna1c T A 6: 118,652,714 (GRCm38) T1249S probably benign Het
Cacna1h G A 17: 25,383,079 (GRCm38) R1596C probably damaging Het
Cbll1 A G 12: 31,487,508 (GRCm38) V415A probably benign Het
Cd300lf C T 11: 115,124,369 (GRCm38) V132I probably benign Het
Cfap54 T C 10: 93,066,846 (GRCm38) Y148C probably damaging Het
Coa5 A G 1: 37,428,347 (GRCm38) S60P probably damaging Het
Col6a2 T C 10: 76,611,049 (GRCm38) N342D probably damaging Het
Cyp2c29 T G 19: 39,330,261 (GRCm38) I434S possibly damaging Het
Ddx11 G A 17: 66,150,729 (GRCm38) probably null Het
Dgke C T 11: 89,040,749 (GRCm38) V560I probably benign Het
Dusp16 C A 6: 134,720,493 (GRCm38) probably null Het
Enpp4 G T 17: 44,102,480 (GRCm38) N54K probably benign Het
Epn1 G A 7: 5,090,123 (GRCm38) A145T probably damaging Het
Erc2 A T 14: 28,080,155 (GRCm38) K764M probably damaging Het
Ercc6 G T 14: 32,526,403 (GRCm38) E304* probably null Het
Fam117a T A 11: 95,364,145 (GRCm38) C115S possibly damaging Het
Galntl5 T C 5: 25,186,165 (GRCm38) S21P probably benign Het
Gm6358 T C 16: 89,141,082 (GRCm38) S70P unknown Het
Grip1 C T 10: 120,075,464 (GRCm38) Q696* probably null Het
Haus5 C T 7: 30,658,976 (GRCm38) W298* probably null Het
Hsfy2 T A 1: 56,637,192 (GRCm38) H62L probably benign Het
Ighm T C 12: 113,421,567 (GRCm38) I258V unknown Het
Igkv13-71-1 G T 6: 69,235,799 (GRCm38) noncoding transcript Het
Inava C T 1: 136,221,071 (GRCm38) probably null Het
Irx1 A C 13: 71,959,668 (GRCm38) S298R probably damaging Het
Jarid2 T A 13: 44,903,063 (GRCm38) Y443N possibly damaging Het
Kcnc1 G A 7: 46,435,316 (GRCm38) A555T probably benign Het
Krtap4-6 T A 11: 99,665,419 (GRCm38) R161* probably null Het
Lipo1 T C 19: 33,780,337 (GRCm38) D244G probably benign Het
Lmo2 T G 2: 103,970,601 (GRCm38) V39G possibly damaging Het
Lrch2 C T X: 147,480,557 (GRCm38) A369T probably damaging Homo
Macf1 A T 4: 123,432,875 (GRCm38) I4943N probably damaging Het
Mkx A T 18: 7,000,591 (GRCm38) probably null Het
Nek1 C T 8: 61,072,309 (GRCm38) Q594* probably null Het
Nipbl T C 15: 8,300,895 (GRCm38) M2349V possibly damaging Het
Nup155 T A 15: 8,153,155 (GRCm38) C1201S probably damaging Het
Or2y8 C A 11: 52,144,596 (GRCm38) R311S probably benign Het
Or4a76 G A 2: 89,630,631 (GRCm38) T89I probably damaging Het
Or5ac25 T C 16: 59,361,406 (GRCm38) K271E probably benign Het
Osbpl1a A G 18: 12,819,503 (GRCm38) probably null Het
Pbx1 T C 1: 168,183,615 (GRCm38) D372G possibly damaging Het
Pikfyve T A 1: 65,262,953 (GRCm38) S1668T probably damaging Het
Pitpnc1 T C 11: 107,226,266 (GRCm38) H193R probably damaging Het
Plag1 G T 4: 3,904,499 (GRCm38) H231N probably damaging Het
Prmt8 A G 6: 127,711,804 (GRCm38) I201T probably damaging Het
Ptpn23 A T 9: 110,393,826 (GRCm38) N54K probably damaging Het
Rab11fip4 T C 11: 79,690,829 (GRCm38) probably null Het
Rassf9 T A 10: 102,545,753 (GRCm38) I332N probably damaging Het
Rgs9 T C 11: 109,268,987 (GRCm38) N173S probably benign Het
Rhbdl1 A G 17: 25,834,969 (GRCm38) L309P probably damaging Het
Rnf214 A G 9: 45,867,821 (GRCm38) S389P probably benign Het
Rxfp1 A C 3: 79,667,848 (GRCm38) L181R probably damaging Het
Sfxn1 C T 13: 54,093,880 (GRCm38) T208I probably benign Het
Sgo2b C T 8: 63,927,793 (GRCm38) M668I probably benign Het
Sh3bp4 C A 1: 89,145,489 (GRCm38) S686R probably damaging Het
Spata31d1d G A 13: 59,728,464 (GRCm38) T419I possibly damaging Het
Spata31d1e T C 13: 59,742,683 (GRCm38) D441G probably benign Het
Spink5 T C 18: 44,014,757 (GRCm38) S857P probably damaging Het
Stard13 A T 5: 151,062,673 (GRCm38) S339R probably damaging Het
Stk35 T A 2: 129,810,888 (GRCm38) Y436* probably null Het
Supt6 C T 11: 78,226,059 (GRCm38) R589Q possibly damaging Het
Tinag T A 9: 76,996,935 (GRCm38) E402V possibly damaging Het
Tmem183a T C 1: 134,361,611 (GRCm38) D27G probably damaging Het
Tnfrsf13c T C 15: 82,223,902 (GRCm38) T56A probably damaging Het
Tnrc18 A C 5: 142,733,576 (GRCm38) L1985R unknown Het
Ttn G A 2: 76,749,329 (GRCm38) T23740M probably damaging Het
Ufl1 G T 4: 25,270,572 (GRCm38) Q215K probably benign Het
Unkl T C 17: 25,231,865 (GRCm38) *232R probably null Het
Wnk4 A T 11: 101,273,998 (GRCm38) N718Y probably damaging Het
Xkr4 T C 1: 3,216,570 (GRCm38) T466A probably benign Het
Zfp451 T A 1: 33,769,817 (GRCm38) K988* probably null Het
Zfp503 G C 14: 21,985,800 (GRCm38) Y349* probably null Het
Zfp990 T A 4: 145,538,103 (GRCm38) F557Y 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
R4720:Ankar UTSW 1 72,699,011 (GRCm38) missense possibly damaging 0.55
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
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'- AAATGCTGGAGGGTCTGGGT -3'
(R):5'- GGCCAATGACAGTGTATGTTGTC -3'

Sequencing Primer
(F):5'- GGGTTGGCTTTCTGTTCATCTTTCC -3'
(R):5'- CTGATCCTTTTTAGAAGACCCGAG -3'
Posted On 2018-04-02