Incidental Mutation 'R4511:Anks1b'
ID 331175
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 041586-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4511 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 89709371-90809162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90346652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 651 (T651A)
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 benign
Transcript: ENSMUST00000099368
AA Change: T651A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: T651A

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 benign
Transcript: ENSMUST00000183156
AA Change: T651A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: T651A

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: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,819 (GRCm39) D397E probably benign Het
Abcc10 A G 17: 46,618,136 (GRCm39) F1005L probably damaging Het
Ackr4 T C 9: 103,975,930 (GRCm39) E339G probably benign Het
Adam39 G T 8: 41,279,328 (GRCm39) C573F probably damaging Het
Aoc1 C A 6: 48,884,740 (GRCm39) H594Q probably damaging Het
Atp4a G T 7: 30,423,678 (GRCm39) E928* probably null Het
Atp5pf T C 16: 84,624,862 (GRCm39) D104G probably benign Het
Atp8b5 A G 4: 43,320,629 (GRCm39) T206A probably damaging Het
Atrn G A 2: 130,777,497 (GRCm39) W182* probably null Het
Bltp2 T C 11: 78,168,154 (GRCm39) S1530P possibly damaging Het
Cacna1e G A 1: 154,437,579 (GRCm39) T257I probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Crebrf A G 17: 26,961,938 (GRCm39) Y345C probably benign Het
Cyp26b1 G A 6: 84,551,473 (GRCm39) R248W probably damaging Het
Dclk3 C A 9: 111,297,060 (GRCm39) H201Q probably benign Het
Ddx17 A T 15: 79,422,793 (GRCm39) V315E probably damaging Het
Dhrs11 T C 11: 84,716,342 (GRCm39) *51W probably null Het
Fgfr4 C A 13: 55,309,328 (GRCm39) P455Q possibly damaging Het
Gabbr1 A G 17: 37,380,103 (GRCm39) K697E probably damaging Het
Gcnt1 G A 19: 17,307,641 (GRCm39) T28I probably benign Het
Gm12185 T A 11: 48,799,305 (GRCm39) H396L possibly damaging Het
Gm21976 A G 13: 98,441,839 (GRCm39) R123G probably benign Het
Hecw1 A C 13: 14,531,776 (GRCm39) V166G probably damaging Het
Hpx A G 7: 105,241,295 (GRCm39) V372A possibly damaging Het
Igkv2-109 A G 6: 68,279,962 (GRCm39) Y61C probably damaging Het
Igsf1 A G X: 48,875,050 (GRCm39) F789S probably damaging Het
Il4ra A G 7: 125,175,280 (GRCm39) D496G possibly damaging Het
Ilf3 A G 9: 21,310,511 (GRCm39) T547A possibly damaging Het
Insrr C A 3: 87,715,978 (GRCm39) P558T possibly damaging Het
Ints9 A G 14: 65,266,381 (GRCm39) D411G possibly damaging Het
Irak3 T A 10: 119,981,813 (GRCm39) H393L probably damaging Het
Isx G A 8: 75,600,298 (GRCm39) M10I probably benign Het
Itga11 A G 9: 62,668,870 (GRCm39) D709G probably damaging Het
Kcng2 G T 18: 80,338,930 (GRCm39) R453S probably benign Het
Kif5b A G 18: 6,214,011 (GRCm39) V664A probably benign Het
Lalba A G 15: 98,380,422 (GRCm39) L44P probably benign Het
Ldlrad1 T G 4: 107,066,715 (GRCm39) F17V probably benign Het
Lnx1 C T 5: 74,780,853 (GRCm39) D382N probably damaging Het
Lrp1 T C 10: 127,429,717 (GRCm39) Y451C probably damaging Het
Lrp2 A T 2: 69,310,406 (GRCm39) N2722K possibly damaging Het
Mctp1 G A 13: 76,973,391 (GRCm39) V431I probably benign Het
Mmrn2 T C 14: 34,125,016 (GRCm39) F866L possibly damaging Het
Mylk2 A G 2: 152,759,330 (GRCm39) E367G probably damaging Het
Nfatc1 A G 18: 80,678,794 (GRCm39) S865P probably damaging Het
Nol6 G C 4: 41,123,526 (GRCm39) T74R probably damaging Het
Notch2 T C 3: 98,053,637 (GRCm39) M2100T probably benign Het
Parp1 A G 1: 180,418,841 (GRCm39) K667R possibly damaging Het
Phlda3 A G 1: 135,694,400 (GRCm39) T72A probably damaging Het
Polg T C 7: 79,105,270 (GRCm39) Q758R probably benign Het
Polq G A 16: 36,868,925 (GRCm39) R765H probably damaging Het
Pramel19 A T 4: 101,798,757 (GRCm39) M243L probably benign Het
Prkd1 T C 12: 50,439,762 (GRCm39) D355G possibly damaging Het
Prpf8 T C 11: 75,382,652 (GRCm39) Y398H probably damaging Het
Ripk1 T C 13: 34,210,731 (GRCm39) Y309H probably damaging Het
Rngtt A T 4: 33,339,032 (GRCm39) Q279L possibly damaging Het
Rusf1 A T 7: 127,875,312 (GRCm39) F319Y probably damaging Het
Samd4 T A 14: 47,315,042 (GRCm39) V114D probably benign Het
Sec23ip G A 7: 128,380,900 (GRCm39) E956K probably damaging Het
Slc4a1ap A T 5: 31,684,747 (GRCm39) T128S probably benign Het
Slc5a11 A T 7: 122,834,858 (GRCm39) I6F probably benign Het
Slc6a19 A C 13: 73,832,094 (GRCm39) L494R probably damaging Het
Slc6a21 A G 7: 44,936,713 (GRCm39) D189G probably damaging Het
Slc7a1 G T 5: 148,277,372 (GRCm39) A381D probably damaging Het
Smc4 T A 3: 68,923,980 (GRCm39) probably null Het
Stk19 T C 17: 35,051,504 (GRCm39) E17G probably damaging Het
Tekt5 A C 16: 10,175,877 (GRCm39) V556G probably benign Het
Tenm4 T C 7: 96,544,070 (GRCm39) F2029L probably benign Het
Thnsl1 T C 2: 21,217,236 (GRCm39) V330A probably damaging Het
Tnfrsf21 A G 17: 43,375,910 (GRCm39) D432G probably damaging Het
Tnip1 T A 11: 54,817,616 (GRCm39) S244C probably benign Het
Tnrc6c A T 11: 117,633,784 (GRCm39) N1294I possibly damaging Het
Trpm3 A G 19: 22,965,381 (GRCm39) I1625M probably benign Het
Ttn A T 2: 76,575,773 (GRCm39) V25040E probably damaging Het
Vwa5a A G 9: 38,633,853 (GRCm39) N19D possibly damaging Het
Washc2 A T 6: 116,197,517 (GRCm39) D250V probably damaging Het
Xpo1 A G 11: 23,237,401 (GRCm39) T755A possibly damaging Het
Zfp462 C T 4: 55,008,934 (GRCm39) T300I possibly damaging Het
Zfp937 A C 2: 150,080,431 (GRCm39) T154P probably damaging Het
Zzef1 A G 11: 72,778,996 (GRCm39) D1819G probably benign 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
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
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'- GTAAGCAAGCATCCTGACGG -3'
(R):5'- TGGATTCACACCCCATTGG -3'

Sequencing Primer
(F):5'- TGATCTCTCTCAGCAGGAAGATGAC -3'
(R):5'- CATTGGTCACCATTGCGGGATC -3'
Posted On 2015-07-21