Incidental Mutation 'R1701:Anks1b'
ID 189737
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 039734-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1701 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 89709371-90809162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89885816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 171 (Y171H)
Ref Sequence ENSEMBL: ENSMUSP00000138539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099368] [ENSMUST00000182907] [ENSMUST00000182936] [ENSMUST00000183156]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000099368
AA Change: Y171H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: Y171H

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 damaging
Transcript: ENSMUST00000182936
AA Change: Y171H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: Y171H

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 noncoding transcript
Transcript: ENSMUST00000183012
Predicted Effect probably damaging
Transcript: ENSMUST00000183156
AA Change: Y171H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: Y171H

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,142 (GRCm39) L53P probably damaging Het
Acadsb T A 7: 131,026,213 (GRCm39) F19I probably benign Het
Aldh3a2 C T 11: 61,147,598 (GRCm39) G303S probably damaging Het
Anxa7 A T 14: 20,510,229 (GRCm39) I385N probably damaging Het
Astn1 A T 1: 158,331,877 (GRCm39) T324S possibly damaging Het
Ccdc88a T C 11: 29,427,427 (GRCm39) V235A possibly damaging Het
Crhr2 T C 6: 55,076,255 (GRCm39) K258R probably damaging Het
Ctnnd1 T C 2: 84,439,335 (GRCm39) E786G probably damaging Het
Ctnnd2 G A 15: 30,922,127 (GRCm39) D918N probably damaging Het
Dnah9 A G 11: 65,802,750 (GRCm39) S200P probably damaging Het
Dot1l T C 10: 80,626,576 (GRCm39) S1266P possibly damaging Het
Efemp1 A G 11: 28,871,750 (GRCm39) T422A possibly damaging Het
Fam135b T C 15: 71,331,578 (GRCm39) H1137R probably damaging Het
Flot2 C T 11: 77,940,373 (GRCm39) S40L possibly damaging Het
Fras1 G A 5: 96,748,643 (GRCm39) S706N probably benign Het
Gbf1 T C 19: 46,250,114 (GRCm39) L357P probably damaging Het
Gpatch2l A G 12: 86,335,726 (GRCm39) S476G probably benign Het
Hbb-bh2 T C 7: 103,489,450 (GRCm39) T34A probably benign Het
Ints8 A G 4: 11,231,656 (GRCm39) L443P probably damaging Het
Intu T A 3: 40,618,694 (GRCm39) D233E probably damaging Het
Itprid2 A G 2: 79,466,394 (GRCm39) K75E probably damaging Het
Kctd1 T A 18: 15,102,617 (GRCm39) I259L possibly damaging Het
Lama5 A G 2: 179,863,162 (GRCm39) C108R probably damaging Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrig2 T C 3: 104,401,993 (GRCm39) I111V probably benign Het
Mtcl2 T C 2: 156,872,539 (GRCm39) N936S probably damaging Het
Myh8 G T 11: 67,170,964 (GRCm39) C125F probably damaging Het
Or2d3c C A 7: 106,526,129 (GRCm39) C179F probably damaging Het
Or2h2 C T 17: 37,396,623 (GRCm39) V145M probably benign Het
Or51a10 T C 7: 103,699,402 (GRCm39) E53G possibly damaging Het
Or5ac21 T C 16: 59,123,651 (GRCm39) I46T probably benign Het
Or5p76 T G 7: 108,122,731 (GRCm39) Q142P probably benign Het
Or5w16 T A 2: 87,576,894 (GRCm39) M118K probably damaging Het
Or6c202 T C 10: 128,995,974 (GRCm39) Q293R probably damaging Het
Or8g4 A T 9: 39,662,365 (GRCm39) I228F probably damaging Het
Pate8 A G 9: 36,493,114 (GRCm39) probably benign Het
Phc2 C T 4: 128,645,400 (GRCm39) P836S probably damaging Het
Pla2g7 T C 17: 43,911,415 (GRCm39) F189S probably damaging Het
Ptprk A G 10: 28,342,054 (GRCm39) D487G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Robo4 G T 9: 37,314,739 (GRCm39) V198L probably benign Het
Selenbp1 C A 3: 94,844,701 (GRCm39) H119Q probably damaging Het
Slc25a13 T C 6: 6,152,525 (GRCm39) probably null Het
Slc35f5 A G 1: 125,498,330 (GRCm39) E176G possibly damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Tenm4 G A 7: 96,552,096 (GRCm39) V2512M probably damaging Het
Tmc8 A G 11: 117,682,188 (GRCm39) probably null Het
Trim30d C T 7: 104,133,389 (GRCm39) W21* probably null Het
Ube3c G A 5: 29,806,200 (GRCm39) V281I probably benign Het
Usp17ld T C 7: 102,899,783 (GRCm39) K383R probably benign Het
Vmn1r172 A T 7: 23,359,529 (GRCm39) Y138F probably damaging Het
Vmn1r180 T C 7: 23,652,395 (GRCm39) V186A possibly damaging Het
Vmn2r25 T A 6: 123,828,754 (GRCm39) probably null Het
Vmn2r61 T C 7: 41,949,935 (GRCm39) F785S probably damaging Het
Zfp141 T A 7: 42,125,470 (GRCm39) Y334F probably benign Het
Zfp609 T C 9: 65,638,282 (GRCm39) I317V probably benign Het
Zfp879 A G 11: 50,724,060 (GRCm39) I259T possibly damaging 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
R1843:Anks1b UTSW 10 90,348,751 (GRCm39) critical splice donor site probably null
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'- GACCTGTGTGGCTAAGCCATTACTC -3'
(R):5'- AGACTCACTTGACAGCTCACGTCC -3'

Sequencing Primer
(F):5'- GGCTAAGCCATTACTCTTGGAAG -3'
(R):5'- GACAGCTCACGTCCATCCC -3'
Posted On 2014-05-14