Incidental Mutation 'IGL02820:Anks1b'
ID 360985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anks1b
Ensembl Gene ENSMUSG00000058589
Gene Name ankyrin repeat and sterile alpha motif domain containing 1B
Synonyms C030032C09Rik, Gm10937, AIDA-1b, LOC380650, E530015N03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02820
Quality Score
Status
Chromosome 10
Chromosomal Location 89709371-90809162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89912921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 349 (C349R)
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 possibly damaging
Transcript: ENSMUST00000099368
AA Change: C349R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: C349R

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 possibly damaging
Transcript: ENSMUST00000182936
AA Change: C315R

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: C315R

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 unknown
Transcript: ENSMUST00000183109
AA Change: C86R
Predicted Effect possibly damaging
Transcript: ENSMUST00000183156
AA Change: C349R

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: C349R

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,124,417 (GRCm39) Y86C probably benign Het
Adgra2 G A 8: 27,607,535 (GRCm39) V47M probably damaging Het
Anks4b A T 7: 119,781,914 (GRCm39) probably benign Het
Apobec2 A G 17: 48,730,295 (GRCm39) S124P probably damaging Het
Brd8 G A 18: 34,740,354 (GRCm39) S493L probably benign Het
Cbln3 A G 14: 56,120,944 (GRCm39) Y126H probably damaging Het
Ccdc138 T C 10: 58,364,721 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ceacam2 T A 7: 25,219,411 (GRCm39) H283L probably damaging Het
Cfap251 A G 5: 123,392,699 (GRCm39) probably benign Het
Clasp1 A G 1: 118,478,834 (GRCm39) D718G possibly damaging Het
Clmn A T 12: 104,739,493 (GRCm39) Y979N probably damaging Het
Ddias T C 7: 92,508,551 (GRCm39) T455A probably benign Het
Dennd5b T C 6: 148,920,840 (GRCm39) R851G probably null Het
Dock1 T C 7: 134,768,944 (GRCm39) V1771A probably benign Het
Dysf T A 6: 84,077,187 (GRCm39) L694Q probably damaging Het
Faim2 T C 15: 99,419,138 (GRCm39) Y77C probably benign Het
Fbxw22 A T 9: 109,215,732 (GRCm39) I172N probably damaging Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Fyb1 T G 15: 6,688,040 (GRCm39) V800G possibly damaging Het
Gcm1 T C 9: 77,971,844 (GRCm39) F262L probably benign Het
Gm21983 T C 7: 26,879,605 (GRCm39) M121V probably benign Het
Gm9996 A T 10: 29,019,657 (GRCm39) probably benign Het
Gstm3 A T 3: 107,876,074 (GRCm39) probably benign Het
Gsto2 G T 19: 47,863,398 (GRCm39) E91D probably damaging Het
Hs6st3 G T 14: 119,376,492 (GRCm39) M222I possibly damaging Het
Ighv3-6 T C 12: 114,251,850 (GRCm39) D90G probably damaging Het
Itgb1bp1 C T 12: 21,326,854 (GRCm39) A40T possibly damaging Het
Kcns3 C T 12: 11,141,872 (GRCm39) E276K probably benign Het
Lamc3 C T 2: 31,813,034 (GRCm39) R1007C probably damaging Het
Lnx2 A T 5: 146,978,877 (GRCm39) M125K probably damaging Het
Lyst T A 13: 13,812,643 (GRCm39) N1018K probably benign Het
Mctp2 T A 7: 71,895,290 (GRCm39) S186C probably damaging Het
Or1j20 A T 2: 36,759,871 (GRCm39) T98S probably benign Het
Polg T C 7: 79,109,519 (GRCm39) T433A possibly damaging Het
Rdh13 C T 7: 4,438,059 (GRCm39) V127M probably damaging Het
Rdh16 A G 10: 127,649,470 (GRCm39) T309A probably benign Het
Reep5 A T 18: 34,506,312 (GRCm39) D21E probably benign Het
Rptn A T 3: 93,304,227 (GRCm39) N520I probably benign Het
Rttn T C 18: 89,047,122 (GRCm39) L928P probably damaging Het
Slc44a2 A G 9: 21,254,273 (GRCm39) I212V probably benign Het
Snupn A G 9: 56,870,332 (GRCm39) T71A probably benign Het
Ssu2 T C 6: 112,359,353 (GRCm39) N89S probably benign Het
Thsd7a A G 6: 12,321,071 (GRCm39) S1535P probably damaging Het
Tmt1a C A 15: 100,202,933 (GRCm39) S51* probably null Het
Uba7 A T 9: 107,858,715 (GRCm39) S849C probably benign Het
Vmn2r80 A G 10: 79,007,439 (GRCm39) T472A probably benign Het
Wdr6 A G 9: 108,455,743 (GRCm39) I17T probably benign Het
Xkr9 G A 1: 13,771,173 (GRCm39) V230I 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
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
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
Posted On 2015-12-18