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, Gm10937, AIDA-1b, LOC380650, 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 89709371-90809162 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 90348751 bp (GRCm39)
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: 106,435,606 (GRCm39) T88M probably damaging Het
9430038I01Rik A G 7: 136,978,795 (GRCm39) probably benign Het
Adgra3 A C 5: 50,118,834 (GRCm39) S905A probably damaging Het
Adgrv1 A G 13: 81,692,652 (GRCm39) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,509,176 (GRCm39) T26A probably benign Het
Ankrd13d T C 19: 4,321,623 (GRCm39) K360E probably damaging Het
Apob T C 12: 8,057,602 (GRCm39) F2028S possibly damaging Het
Arap3 G A 18: 38,108,636 (GRCm39) R1265W probably damaging Het
Arhgef37 A G 18: 61,651,121 (GRCm39) Y135H probably damaging Het
Armh3 A C 19: 45,963,691 (GRCm39) S42R probably benign Het
Atp1a1 T C 3: 101,489,333 (GRCm39) T760A probably benign Het
Cdc42bpb T A 12: 111,289,255 (GRCm39) M497L probably benign Het
Ces5a C T 8: 94,240,859 (GRCm39) V413M probably damaging Het
Chd5 A T 4: 152,470,263 (GRCm39) Y1903F probably damaging Het
Chd9 T A 8: 91,737,422 (GRCm39) N1500K probably benign Het
Chmp7 G T 14: 69,957,248 (GRCm39) D303E probably benign Het
Chrnb4 A T 9: 54,942,102 (GRCm39) Y391N possibly damaging Het
Crtc1 T C 8: 70,840,802 (GRCm39) T475A probably benign Het
Cyp2c69 A G 19: 39,865,972 (GRCm39) I207T probably benign Het
Dcp1a A G 14: 30,240,940 (GRCm39) E250G probably damaging Het
Ddx20 T C 3: 105,586,398 (GRCm39) Q649R probably benign Het
Defb12 T A 8: 19,162,754 (GRCm39) K59N probably damaging Het
Dpy19l3 A T 7: 35,429,185 (GRCm39) I85N probably damaging Het
Duox2 C T 2: 122,122,739 (GRCm39) probably null Het
Ebi3 T A 17: 56,263,679 (GRCm39) Y197N probably damaging Het
Emc1 G A 4: 139,102,823 (GRCm39) R994Q probably benign Het
Ercc6 G T 14: 32,268,777 (GRCm39) M530I probably damaging Het
Evl T A 12: 108,619,255 (GRCm39) D70E probably damaging Het
Fbln2 A G 6: 91,242,757 (GRCm39) N819S probably damaging Het
Foxk2 A G 11: 121,176,363 (GRCm39) I170V probably benign Het
Gfm1 T C 3: 67,342,943 (GRCm39) V159A probably damaging Het
Gm10837 A G 14: 122,728,177 (GRCm39) T18A unknown Het
Gm12887 A T 4: 121,479,227 (GRCm39) V25E probably damaging Het
Hectd4 A G 5: 121,435,243 (GRCm39) H985R possibly damaging Het
Hsfy2 A G 1: 56,675,791 (GRCm39) Y249H possibly damaging Het
Hspg2 T C 4: 137,272,878 (GRCm39) V2639A probably damaging Het
Igf2r A G 17: 12,923,157 (GRCm39) probably null Het
Invs T A 4: 48,422,035 (GRCm39) I889N probably damaging Het
Kcnq1 A T 7: 142,736,857 (GRCm39) M209L probably benign Het
Klra7 A G 6: 130,206,957 (GRCm39) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrif1 T A 3: 106,640,127 (GRCm39) V404D probably damaging Het
Lrriq1 T A 10: 103,063,034 (GRCm39) probably null Het
Lypd6 T A 2: 50,078,774 (GRCm39) I90N possibly damaging Het
Mbp A G 18: 82,602,247 (GRCm39) D174G probably damaging Het
Megf9 G T 4: 70,453,022 (GRCm39) P13Q probably damaging Het
Myo15b A T 11: 115,760,412 (GRCm39) T1155S probably benign Het
Nherf2 C T 17: 24,860,693 (GRCm39) S150N possibly damaging Het
Nlrp6 T A 7: 140,503,006 (GRCm39) C371S probably damaging Het
Nosip T A 7: 44,726,733 (GRCm39) probably null Het
Nox3 G T 17: 3,720,153 (GRCm39) P344H probably damaging Het
Nup210l T C 3: 90,079,393 (GRCm39) V959A probably damaging Het
Or10d1 A G 9: 39,484,031 (GRCm39) Y175H possibly damaging Het
Or2b2b C A 13: 21,858,842 (GRCm39) V91L probably benign Het
Or2k2 T C 4: 58,785,384 (GRCm39) I113V probably benign Het
Or5b119 A G 19: 13,457,295 (GRCm39) I89T probably benign Het
Or5k8 T A 16: 58,644,440 (GRCm39) I211F probably damaging Het
Osbpl3 A C 6: 50,347,123 (GRCm39) S25A probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pax7 G A 4: 139,511,802 (GRCm39) R260C probably damaging Het
Pbrm1 A T 14: 30,760,914 (GRCm39) I224F probably damaging Het
Pcdh1 T A 18: 38,325,278 (GRCm39) probably null Het
Pcnx1 T C 12: 82,027,709 (GRCm39) L1585P probably damaging Het
Pde4c C T 8: 71,200,599 (GRCm39) H362Y probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pgm1 A T 4: 99,818,675 (GRCm39) Q90L probably damaging Het
Phlpp1 A G 1: 106,271,235 (GRCm39) H814R probably benign Het
Pknox2 A T 9: 36,866,127 (GRCm39) M5K possibly damaging Het
Pole G A 5: 110,478,701 (GRCm39) probably null Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prelp T C 1: 133,842,495 (GRCm39) K217E probably damaging Het
Prkce C T 17: 86,782,974 (GRCm39) Q202* probably null Het
Psmd2 T G 16: 20,475,332 (GRCm39) M370R probably benign Het
Rimklb A T 6: 122,440,968 (GRCm39) H68Q probably damaging Het
Rnasel A G 1: 153,630,420 (GRCm39) D312G possibly damaging Het
Rxrg A T 1: 167,426,321 (GRCm39) M1L probably benign Het
Scrn1 A G 6: 54,499,826 (GRCm39) F220L possibly damaging Het
Scyl3 A G 1: 163,778,244 (GRCm39) S461G probably benign Het
Serpina1c T A 12: 103,861,282 (GRCm39) T411S probably benign Het
Serpinb6d C T 13: 33,855,364 (GRCm39) P346L probably benign Het
Shld2 A G 14: 33,989,760 (GRCm39) I382T probably benign Het
Spg21 G T 9: 65,372,618 (GRCm39) V17F probably damaging Het
Spink5 A T 18: 44,132,958 (GRCm39) M525L probably benign Het
Sun2 T C 15: 79,621,764 (GRCm39) T155A probably benign Het
Tchh T A 3: 93,354,087 (GRCm39) F1176I unknown Het
Tex15 T A 8: 34,066,682 (GRCm39) D2037E probably benign Het
Tfdp2 T C 9: 96,199,857 (GRCm39) C392R possibly damaging Het
Tmem30c T C 16: 57,097,143 (GRCm39) N139S probably benign Het
Tns2 C T 15: 102,021,568 (GRCm39) probably null Het
Trim66 T C 7: 109,075,046 (GRCm39) E405G probably damaging Het
Trpc4 T A 3: 54,187,415 (GRCm39) F456I probably benign Het
Tspo2 T C 17: 48,755,818 (GRCm39) D108G possibly damaging Het
Tyk2 A T 9: 21,032,850 (GRCm39) C304* probably null Het
Vgll4 A T 6: 114,839,756 (GRCm39) S185T probably benign Het
Vmn2r94 A C 17: 18,464,732 (GRCm39) S519R probably benign Het
Vmn2r96 T G 17: 18,818,183 (GRCm39) S587A probably benign Het
Vps4b C A 1: 106,706,712 (GRCm39) A287S possibly damaging Het
Yeats2 C T 16: 20,048,314 (GRCm39) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm39) S659A possibly damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp764l1 A C 7: 126,990,660 (GRCm39) D442E probably benign Het
Zswim5 G T 4: 116,734,896 (GRCm39) E80D unknown Het
Other mutations in Anks1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Anks1b APN 10 90,733,100 (GRCm39) splice site probably benign
IGL01890:Anks1b APN 10 90,480,389 (GRCm39) missense probably benign 0.15
IGL01966:Anks1b APN 10 90,730,994 (GRCm39) missense probably damaging 1.00
IGL02176:Anks1b APN 10 89,878,530 (GRCm39) missense probably damaging 0.99
IGL02205:Anks1b APN 10 89,906,956 (GRCm39) missense probably benign 0.00
IGL02465:Anks1b APN 10 89,999,127 (GRCm39) nonsense probably null
IGL02534:Anks1b APN 10 90,730,979 (GRCm39) missense probably benign 0.45
IGL02554:Anks1b APN 10 90,757,240 (GRCm39) missense probably damaging 1.00
IGL02820:Anks1b APN 10 89,912,921 (GRCm39) missense possibly damaging 0.93
IGL03164:Anks1b APN 10 89,878,554 (GRCm39) missense probably damaging 1.00
R0096:Anks1b UTSW 10 89,909,924 (GRCm39) missense possibly damaging 0.90
R0096:Anks1b UTSW 10 89,909,924 (GRCm39) missense possibly damaging 0.90
R0482:Anks1b UTSW 10 90,195,057 (GRCm39) missense probably benign 0.00
R0542:Anks1b UTSW 10 89,909,829 (GRCm39) splice site probably benign
R0848:Anks1b UTSW 10 89,906,987 (GRCm39) missense probably damaging 0.99
R1056:Anks1b UTSW 10 90,757,291 (GRCm39) splice site probably null
R1398:Anks1b UTSW 10 89,885,891 (GRCm39) missense probably damaging 1.00
R1446:Anks1b UTSW 10 90,346,935 (GRCm39) missense probably benign 0.00
R1548:Anks1b UTSW 10 89,885,847 (GRCm39) missense possibly damaging 0.79
R1551:Anks1b UTSW 10 89,912,843 (GRCm39) missense probably benign 0.00
R1607:Anks1b UTSW 10 89,878,410 (GRCm39) missense probably damaging 1.00
R1667:Anks1b UTSW 10 90,347,046 (GRCm39) critical splice donor site probably null
R1701:Anks1b UTSW 10 89,885,816 (GRCm39) missense probably damaging 1.00
R1899:Anks1b UTSW 10 90,096,618 (GRCm39) missense probably damaging 1.00
R1957:Anks1b UTSW 10 89,885,792 (GRCm39) missense probably damaging 1.00
R2036:Anks1b UTSW 10 90,805,715 (GRCm39) missense probably damaging 0.99
R2279:Anks1b UTSW 10 89,885,958 (GRCm39) missense probably damaging 1.00
R2280:Anks1b UTSW 10 90,802,164 (GRCm39) missense probably damaging 1.00
R2937:Anks1b UTSW 10 89,912,928 (GRCm39) missense probably damaging 1.00
R3739:Anks1b UTSW 10 89,869,078 (GRCm39) missense probably damaging 1.00
R4061:Anks1b UTSW 10 90,143,484 (GRCm39) missense probably damaging 0.98
R4459:Anks1b UTSW 10 90,346,706 (GRCm39) missense probably damaging 1.00
R4479:Anks1b UTSW 10 89,885,754 (GRCm39) missense probably damaging 1.00
R4510:Anks1b UTSW 10 90,346,652 (GRCm39) missense probably benign 0.01
R4511:Anks1b UTSW 10 90,346,652 (GRCm39) missense probably benign 0.01
R4780:Anks1b UTSW 10 89,709,594 (GRCm39) missense probably damaging 1.00
R4785:Anks1b UTSW 10 90,750,612 (GRCm39) missense probably null 0.88
R4790:Anks1b UTSW 10 89,999,137 (GRCm39) missense probably damaging 0.99
R5012:Anks1b UTSW 10 90,194,999 (GRCm39) missense probably benign 0.06
R5400:Anks1b UTSW 10 90,348,686 (GRCm39) missense probably damaging 1.00
R5586:Anks1b UTSW 10 89,912,926 (GRCm39) missense probably damaging 0.98
R5687:Anks1b UTSW 10 90,750,573 (GRCm39) missense probably benign 0.03
R5899:Anks1b UTSW 10 90,759,379 (GRCm39) splice site probably null
R5917:Anks1b UTSW 10 90,412,803 (GRCm39) intron probably benign
R5999:Anks1b UTSW 10 90,194,910 (GRCm39) missense probably damaging 1.00
R6080:Anks1b UTSW 10 90,802,211 (GRCm39) nonsense probably null
R6216:Anks1b UTSW 10 90,096,618 (GRCm39) missense probably damaging 1.00
R6265:Anks1b UTSW 10 90,777,362 (GRCm39) missense probably damaging 1.00
R6298:Anks1b UTSW 10 90,516,699 (GRCm39) missense probably damaging 1.00
R6337:Anks1b UTSW 10 90,757,158 (GRCm39) missense probably benign 0.27
R6522:Anks1b UTSW 10 90,733,189 (GRCm39) intron probably benign
R6843:Anks1b UTSW 10 90,784,460 (GRCm39) missense probably damaging 1.00
R6852:Anks1b UTSW 10 90,096,516 (GRCm39) missense probably damaging 1.00
R6933:Anks1b UTSW 10 89,905,352 (GRCm39) missense probably damaging 1.00
R7114:Anks1b UTSW 10 90,143,560 (GRCm39) missense probably damaging 1.00
R7211:Anks1b UTSW 10 90,346,932 (GRCm39) missense possibly damaging 0.94
R7241:Anks1b UTSW 10 90,348,699 (GRCm39) missense probably damaging 1.00
R7264:Anks1b UTSW 10 90,348,732 (GRCm39) missense probably benign 0.08
R7325:Anks1b UTSW 10 90,777,294 (GRCm39) missense probably damaging 1.00
R7392:Anks1b UTSW 10 90,516,648 (GRCm39) missense possibly damaging 0.47
R7578:Anks1b UTSW 10 89,885,789 (GRCm39) missense probably damaging 1.00
R7604:Anks1b UTSW 10 90,096,708 (GRCm39) splice site probably null
R7633:Anks1b UTSW 10 90,784,446 (GRCm39) missense probably damaging 1.00
R7881:Anks1b UTSW 10 90,802,880 (GRCm39) missense probably benign 0.07
R7910:Anks1b UTSW 10 90,516,654 (GRCm39) missense probably damaging 1.00
R7941:Anks1b UTSW 10 90,413,017 (GRCm39) missense probably damaging 0.98
R8045:Anks1b UTSW 10 90,516,722 (GRCm39) missense probably benign
R8146:Anks1b UTSW 10 90,143,560 (GRCm39) missense probably damaging 1.00
R8176:Anks1b UTSW 10 89,905,353 (GRCm39) missense probably damaging 1.00
R8535:Anks1b UTSW 10 90,784,493 (GRCm39) missense probably benign 0.00
R8681:Anks1b UTSW 10 89,885,868 (GRCm39) missense probably damaging 0.99
R9300:Anks1b UTSW 10 90,412,966 (GRCm39) missense possibly damaging 0.93
R9469:Anks1b UTSW 10 90,733,205 (GRCm39) missense possibly damaging 0.58
R9541:Anks1b UTSW 10 90,412,947 (GRCm39) missense probably benign 0.02
R9550:Anks1b UTSW 10 90,412,360 (GRCm39) start codon destroyed probably null
R9653:Anks1b UTSW 10 90,346,524 (GRCm39) missense probably damaging 1.00
RF004:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF008:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF017:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF018:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
RF023:Anks1b UTSW 10 89,869,087 (GRCm39) missense probably damaging 1.00
X0064:Anks1b UTSW 10 90,348,707 (GRCm39) 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