Incidental Mutation 'R1843:Anks1b'
ID 207448
Institutional Source Beutler Lab
Gene Symbol Anks1b
Ensembl Gene ENSMUSG00000058589
Gene Name ankyrin repeat and sterile alpha motif domain containing 1B
Synonyms C030032C09Rik, AIDA-1b, LOC380650, Gm10937, E530015N03Rik
MMRRC Submission 039868-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1843 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 89873509-90973300 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 90512889 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099368] [ENSMUST00000099368] [ENSMUST00000182907] [ENSMUST00000182936] [ENSMUST00000183156] [ENSMUST00000183156]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000099368
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 4.75e-2 SMART
low complexity region 498 513 N/A INTRINSIC
low complexity region 551 577 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
SAM 806 875 2.06e-19 SMART
SAM 880 931 4.44e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000099368
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 4.75e-2 SMART
low complexity region 498 513 N/A INTRINSIC
low complexity region 551 577 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
SAM 806 875 2.06e-19 SMART
SAM 880 931 4.44e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182907
SMART Domains Protein: ENSMUSP00000138614
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182936
SMART Domains Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 5.03e2 SMART
low complexity region 464 479 N/A INTRINSIC
low complexity region 517 543 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000183156
SMART Domains Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 4.75e-2 SMART
low complexity region 498 513 N/A INTRINSIC
low complexity region 551 577 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
SAM 806 875 2.06e-19 SMART
SAM 880 948 5.66e-17 SMART
low complexity region 968 983 N/A INTRINSIC
PTB 1056 1194 2.94e-38 SMART
Predicted Effect probably null
Transcript: ENSMUST00000183156
SMART Domains Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 46 N/A INTRINSIC
ANK 58 87 1.88e-5 SMART
ANK 91 123 3.13e-2 SMART
ANK 127 156 6.92e-4 SMART
ANK 160 189 3.08e-1 SMART
ANK 193 222 1.43e-5 SMART
ANK 225 254 4.75e-2 SMART
low complexity region 498 513 N/A INTRINSIC
low complexity region 551 577 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
SAM 806 875 2.06e-19 SMART
SAM 880 948 5.66e-17 SMART
low complexity region 968 983 N/A INTRINSIC
PTB 1056 1194 2.94e-38 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons alters hippocampal synaptic transmission. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 105,708,974 (GRCm38) T88M probably damaging Het
9130011E15Rik A C 19: 45,975,252 (GRCm38) S42R probably benign Het
9430038I01Rik A G 7: 137,377,066 (GRCm38) probably benign Het
Adgra3 A C 5: 49,961,492 (GRCm38) S905A probably damaging Het
Adgrv1 A G 13: 81,544,533 (GRCm38) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,673,314 (GRCm38) T26A probably benign Het
Ankrd13d T C 19: 4,271,595 (GRCm38) K360E probably damaging Het
Apob T C 12: 8,007,602 (GRCm38) F2028S possibly damaging Het
Arap3 G A 18: 37,975,583 (GRCm38) R1265W probably damaging Het
Arhgef37 A G 18: 61,518,050 (GRCm38) Y135H probably damaging Het
Atp1a1 T C 3: 101,582,017 (GRCm38) T760A probably benign Het
Cdc42bpb T A 12: 111,322,821 (GRCm38) M497L probably benign Het
Ces5a C T 8: 93,514,231 (GRCm38) V413M probably damaging Het
Chd5 A T 4: 152,385,806 (GRCm38) Y1903F probably damaging Het
Chd9 T A 8: 91,010,794 (GRCm38) N1500K probably benign Het
Chmp7 G T 14: 69,719,799 (GRCm38) D303E probably benign Het
Chrnb4 A T 9: 55,034,818 (GRCm38) Y391N possibly damaging Het
Crtc1 T C 8: 70,388,152 (GRCm38) T475A probably benign Het
Cyp2c69 A G 19: 39,877,528 (GRCm38) I207T probably benign Het
Dcp1a A G 14: 30,518,983 (GRCm38) E250G probably damaging Het
Ddx20 T C 3: 105,679,082 (GRCm38) Q649R probably benign Het
Defb12 T A 8: 19,112,738 (GRCm38) K59N probably damaging Het
Dpy19l3 A T 7: 35,729,760 (GRCm38) I85N probably damaging Het
Duox2 C T 2: 122,292,258 (GRCm38) probably null Het
E430018J23Rik A C 7: 127,391,488 (GRCm38) D442E probably benign Het
Ebi3 T A 17: 55,956,679 (GRCm38) Y197N probably damaging Het
Emc1 G A 4: 139,375,512 (GRCm38) R994Q probably benign Het
Ercc6 G T 14: 32,546,820 (GRCm38) M530I probably damaging Het
Evl T A 12: 108,652,996 (GRCm38) D70E probably damaging Het
Fam35a A G 14: 34,267,803 (GRCm38) I382T probably benign Het
Fbln2 A G 6: 91,265,775 (GRCm38) N819S probably damaging Het
Foxk2 A G 11: 121,285,537 (GRCm38) I170V probably benign Het
Gfm1 T C 3: 67,435,610 (GRCm38) V159A probably damaging Het
Gm10837 A G 14: 122,490,765 (GRCm38) T18A unknown Het
Gm12887 A T 4: 121,622,030 (GRCm38) V25E probably damaging Het
Hectd4 A G 5: 121,297,180 (GRCm38) H985R possibly damaging Het
Hsfy2 A G 1: 56,636,632 (GRCm38) Y249H possibly damaging Het
Hspg2 T C 4: 137,545,567 (GRCm38) V2639A probably damaging Het
Igf2r A G 17: 12,704,270 (GRCm38) probably null Het
Invs T A 4: 48,422,035 (GRCm38) I889N probably damaging Het
Kcnq1 A T 7: 143,183,120 (GRCm38) M209L probably benign Het
Klra7 A G 6: 130,229,994 (GRCm38) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,333,526 (GRCm38) probably benign Het
Lrif1 T A 3: 106,732,811 (GRCm38) V404D probably damaging Het
Lrriq1 T A 10: 103,227,173 (GRCm38) probably null Het
Lypd6 T A 2: 50,188,762 (GRCm38) I90N possibly damaging Het
Mbp A G 18: 82,584,122 (GRCm38) D174G probably damaging Het
Megf9 G T 4: 70,534,785 (GRCm38) P13Q probably damaging Het
Myo15b A T 11: 115,869,586 (GRCm38) T1155S probably benign Het
Nlrp6 T A 7: 140,923,093 (GRCm38) C371S probably damaging Het
Nosip T A 7: 45,077,309 (GRCm38) probably null Het
Nox3 G T 17: 3,669,878 (GRCm38) P344H probably damaging Het
Nup210l T C 3: 90,172,086 (GRCm38) V959A probably damaging Het
Olfr1360 C A 13: 21,674,672 (GRCm38) V91L probably benign Het
Olfr1475 A G 19: 13,479,931 (GRCm38) I89T probably benign Het
Olfr175-ps1 T A 16: 58,824,077 (GRCm38) I211F probably damaging Het
Olfr267 T C 4: 58,785,384 (GRCm38) I113V probably benign Het
Olfr959 A G 9: 39,572,735 (GRCm38) Y175H possibly damaging Het
Osbpl3 A C 6: 50,370,143 (GRCm38) S25A probably damaging Het
Otog G A 7: 46,246,283 (GRCm38) C107Y probably damaging Het
Pax7 G A 4: 139,784,491 (GRCm38) R260C probably damaging Het
Pbrm1 A T 14: 31,038,957 (GRCm38) I224F probably damaging Het
Pcdh1 T A 18: 38,192,225 (GRCm38) probably null Het
Pcnx T C 12: 81,980,935 (GRCm38) L1585P probably damaging Het
Pde4c C T 8: 70,747,950 (GRCm38) H362Y probably damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pgm2 A T 4: 99,961,478 (GRCm38) Q90L probably damaging Het
Phlpp1 A G 1: 106,343,505 (GRCm38) H814R probably benign Het
Pknox2 A T 9: 36,954,831 (GRCm38) M5K possibly damaging Het
Pole G A 5: 110,330,835 (GRCm38) probably null Het
Polr1b A G 2: 129,102,966 (GRCm38) I61V probably benign Het
Prelp T C 1: 133,914,757 (GRCm38) K217E probably damaging Het
Prkce C T 17: 86,475,546 (GRCm38) Q202* probably null Het
Psmd2 T G 16: 20,656,582 (GRCm38) M370R probably benign Het
Rimklb A T 6: 122,464,009 (GRCm38) H68Q probably damaging Het
Rnasel A G 1: 153,754,674 (GRCm38) D312G possibly damaging Het
Rxrg A T 1: 167,598,752 (GRCm38) M1L probably benign Het
Scrn1 A G 6: 54,522,841 (GRCm38) F220L possibly damaging Het
Scyl3 A G 1: 163,950,675 (GRCm38) S461G probably benign Het
Serpina1c T A 12: 103,895,023 (GRCm38) T411S probably benign Het
Serpinb6d C T 13: 33,671,381 (GRCm38) P346L probably benign Het
Slc9a3r2 C T 17: 24,641,719 (GRCm38) S150N possibly damaging Het
Spg21 G T 9: 65,465,336 (GRCm38) V17F probably damaging Het
Spink5 A T 18: 43,999,891 (GRCm38) M525L probably benign Het
Sun2 T C 15: 79,737,563 (GRCm38) T155A probably benign Het
Tchh T A 3: 93,446,780 (GRCm38) F1176I unknown Het
Tex15 T A 8: 33,576,654 (GRCm38) D2037E probably benign Het
Tfdp2 T C 9: 96,317,804 (GRCm38) C392R possibly damaging Het
Tmem30c T C 16: 57,276,780 (GRCm38) N139S probably benign Het
Tns2 C T 15: 102,113,133 (GRCm38) probably null Het
Trim66 T C 7: 109,475,839 (GRCm38) E405G probably damaging Het
Trpc4 T A 3: 54,279,994 (GRCm38) F456I probably benign Het
Tspo2 T C 17: 48,448,790 (GRCm38) D108G possibly damaging Het
Tyk2 A T 9: 21,121,554 (GRCm38) C304* probably null Het
Vgll4 A T 6: 114,862,795 (GRCm38) S185T probably benign Het
Vmn2r94 A C 17: 18,244,470 (GRCm38) S519R probably benign Het
Vmn2r96 T G 17: 18,597,921 (GRCm38) S587A probably benign Het
Vps4b C A 1: 106,778,982 (GRCm38) A287S possibly damaging Het
Yeats2 C T 16: 20,229,564 (GRCm38) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm38) S659A possibly damaging Het
Zfp507 C T 7: 35,793,725 (GRCm38) R631Q probably damaging Het
Zswim5 G T 4: 116,877,699 (GRCm38) E80D unknown Het
Other mutations in Anks1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Anks1b APN 10 90,897,238 (GRCm38) splice site probably benign
IGL01890:Anks1b APN 10 90,644,527 (GRCm38) missense probably benign 0.15
IGL01966:Anks1b APN 10 90,895,132 (GRCm38) missense probably damaging 1.00
IGL02176:Anks1b APN 10 90,042,668 (GRCm38) missense probably damaging 0.99
IGL02205:Anks1b APN 10 90,071,094 (GRCm38) missense probably benign 0.00
IGL02465:Anks1b APN 10 90,163,265 (GRCm38) nonsense probably null
IGL02534:Anks1b APN 10 90,895,117 (GRCm38) missense probably benign 0.45
IGL02554:Anks1b APN 10 90,921,378 (GRCm38) missense probably damaging 1.00
IGL02820:Anks1b APN 10 90,077,059 (GRCm38) missense possibly damaging 0.93
IGL03164:Anks1b APN 10 90,042,692 (GRCm38) missense probably damaging 1.00
R0096:Anks1b UTSW 10 90,074,062 (GRCm38) missense possibly damaging 0.90
R0482:Anks1b UTSW 10 90,359,195 (GRCm38) missense probably benign 0.00
R0542:Anks1b UTSW 10 90,073,967 (GRCm38) splice site probably benign
R0848:Anks1b UTSW 10 90,071,125 (GRCm38) missense probably damaging 0.99
R1056:Anks1b UTSW 10 90,921,429 (GRCm38) splice site probably null
R1398:Anks1b UTSW 10 90,050,029 (GRCm38) missense probably damaging 1.00
R1446:Anks1b UTSW 10 90,511,073 (GRCm38) missense probably benign 0.00
R1548:Anks1b UTSW 10 90,049,985 (GRCm38) missense possibly damaging 0.79
R1551:Anks1b UTSW 10 90,076,981 (GRCm38) missense probably benign 0.00
R1607:Anks1b UTSW 10 90,042,548 (GRCm38) missense probably damaging 1.00
R1667:Anks1b UTSW 10 90,511,184 (GRCm38) critical splice donor site probably null
R1701:Anks1b UTSW 10 90,049,954 (GRCm38) missense probably damaging 1.00
R1899:Anks1b UTSW 10 90,260,756 (GRCm38) missense probably damaging 1.00
R1957:Anks1b UTSW 10 90,049,930 (GRCm38) missense probably damaging 1.00
R2036:Anks1b UTSW 10 90,969,853 (GRCm38) missense probably damaging 0.99
R2279:Anks1b UTSW 10 90,050,096 (GRCm38) missense probably damaging 1.00
R2280:Anks1b UTSW 10 90,966,302 (GRCm38) missense probably damaging 1.00
R2937:Anks1b UTSW 10 90,077,066 (GRCm38) missense probably damaging 1.00
R3739:Anks1b UTSW 10 90,033,216 (GRCm38) missense probably damaging 1.00
R4061:Anks1b UTSW 10 90,307,622 (GRCm38) missense probably damaging 0.98
R4459:Anks1b UTSW 10 90,510,844 (GRCm38) missense probably damaging 1.00
R4479:Anks1b UTSW 10 90,049,892 (GRCm38) missense probably damaging 1.00
R4510:Anks1b UTSW 10 90,510,790 (GRCm38) missense probably benign 0.01
R4511:Anks1b UTSW 10 90,510,790 (GRCm38) missense probably benign 0.01
R4780:Anks1b UTSW 10 89,873,732 (GRCm38) missense probably damaging 1.00
R4785:Anks1b UTSW 10 90,914,750 (GRCm38) missense probably null 0.88
R4790:Anks1b UTSW 10 90,163,275 (GRCm38) missense probably damaging 0.99
R5012:Anks1b UTSW 10 90,359,137 (GRCm38) missense probably benign 0.06
R5400:Anks1b UTSW 10 90,512,824 (GRCm38) missense probably damaging 1.00
R5586:Anks1b UTSW 10 90,077,064 (GRCm38) missense probably damaging 0.98
R5687:Anks1b UTSW 10 90,914,711 (GRCm38) missense probably benign 0.03
R5899:Anks1b UTSW 10 90,923,517 (GRCm38) splice site probably null
R5917:Anks1b UTSW 10 90,576,941 (GRCm38) intron probably benign
R5999:Anks1b UTSW 10 90,359,048 (GRCm38) missense probably damaging 1.00
R6080:Anks1b UTSW 10 90,966,349 (GRCm38) nonsense probably null
R6216:Anks1b UTSW 10 90,260,756 (GRCm38) missense probably damaging 1.00
R6265:Anks1b UTSW 10 90,941,500 (GRCm38) missense probably damaging 1.00
R6298:Anks1b UTSW 10 90,680,837 (GRCm38) missense probably damaging 1.00
R6337:Anks1b UTSW 10 90,921,296 (GRCm38) missense probably benign 0.27
R6522:Anks1b UTSW 10 90,897,327 (GRCm38) intron probably benign
R6843:Anks1b UTSW 10 90,948,598 (GRCm38) missense probably damaging 1.00
R6852:Anks1b UTSW 10 90,260,654 (GRCm38) missense probably damaging 1.00
R6933:Anks1b UTSW 10 90,069,490 (GRCm38) missense probably damaging 1.00
R7114:Anks1b UTSW 10 90,307,698 (GRCm38) missense probably damaging 1.00
R7211:Anks1b UTSW 10 90,511,070 (GRCm38) missense possibly damaging 0.94
R7241:Anks1b UTSW 10 90,512,837 (GRCm38) missense probably damaging 1.00
R7264:Anks1b UTSW 10 90,512,870 (GRCm38) missense probably benign 0.08
R7325:Anks1b UTSW 10 90,941,432 (GRCm38) missense probably damaging 1.00
R7392:Anks1b UTSW 10 90,680,786 (GRCm38) missense possibly damaging 0.47
R7578:Anks1b UTSW 10 90,049,927 (GRCm38) missense probably damaging 1.00
R7604:Anks1b UTSW 10 90,260,846 (GRCm38) splice site probably null
R7633:Anks1b UTSW 10 90,948,584 (GRCm38) missense probably damaging 1.00
R7881:Anks1b UTSW 10 90,967,018 (GRCm38) missense probably benign 0.07
R7910:Anks1b UTSW 10 90,680,792 (GRCm38) missense probably damaging 1.00
R7941:Anks1b UTSW 10 90,577,155 (GRCm38) missense probably damaging 0.98
R8045:Anks1b UTSW 10 90,680,860 (GRCm38) missense probably benign
R8146:Anks1b UTSW 10 90,307,698 (GRCm38) missense probably damaging 1.00
R8176:Anks1b UTSW 10 90,069,491 (GRCm38) missense probably damaging 1.00
R8535:Anks1b UTSW 10 90,948,631 (GRCm38) missense probably benign 0.00
R8681:Anks1b UTSW 10 90,050,006 (GRCm38) missense probably damaging 0.99
R9300:Anks1b UTSW 10 90,577,104 (GRCm38) missense possibly damaging 0.93
R9469:Anks1b UTSW 10 90,897,343 (GRCm38) missense possibly damaging 0.58
R9541:Anks1b UTSW 10 90,577,085 (GRCm38) missense probably benign 0.02
R9550:Anks1b UTSW 10 90,576,498 (GRCm38) start codon destroyed probably null
R9653:Anks1b UTSW 10 90,510,662 (GRCm38) missense probably damaging 1.00
RF004:Anks1b UTSW 10 90,033,225 (GRCm38) missense probably damaging 1.00
RF008:Anks1b UTSW 10 90,033,225 (GRCm38) missense probably damaging 1.00
RF017:Anks1b UTSW 10 90,033,225 (GRCm38) missense probably damaging 1.00
RF018:Anks1b UTSW 10 90,033,225 (GRCm38) missense probably damaging 1.00
RF023:Anks1b UTSW 10 90,033,225 (GRCm38) missense probably damaging 1.00
X0064:Anks1b UTSW 10 90,512,845 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTGGTAGTAGCACCAAG -3'
(R):5'- CTGACATCATAAAAGAGCAACGTGG -3'

Sequencing Primer
(F):5'- TGTGGTAGTAGCACCAAGAATATATG -3'
(R):5'- GTGGGGAAAAATTCTCAATTTGCCC -3'
Posted On 2014-06-23