Incidental Mutation 'R5917:Anks1b'
ID 461414
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 044114-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5917 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 89709371-90809162 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 90412803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099364] [ENSMUST00000099368] [ENSMUST00000182045] [ENSMUST00000182053] [ENSMUST00000182083] [ENSMUST00000182113] [ENSMUST00000182430] [ENSMUST00000182595] [ENSMUST00000182284] [ENSMUST00000183136] [ENSMUST00000182960] [ENSMUST00000182427] [ENSMUST00000182786] [ENSMUST00000183156] [ENSMUST00000182550] [ENSMUST00000182600] [ENSMUST00000182356] [ENSMUST00000182907]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000099364
SMART Domains Protein: ENSMUSP00000096965
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
PTB 131 269 1.5e-40 SMART
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000182003
Predicted Effect probably benign
Transcript: ENSMUST00000182045
SMART Domains Protein: ENSMUSP00000138679
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
Pfam:SAM_1 34 69 1.6e-9 PFAM
Pfam:SAM_2 34 75 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182053
SMART Domains Protein: ENSMUSP00000138644
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 2 71 1.19e-19 SMART
SAM 76 144 5.66e-17 SMART
PTB 192 330 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182083
Predicted Effect probably benign
Transcript: ENSMUST00000182113
SMART Domains Protein: ENSMUSP00000138655
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 33 102 1.19e-19 SMART
SAM 107 175 5.66e-17 SMART
low complexity region 195 210 N/A INTRINSIC
PTB 307 445 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182430
SMART Domains Protein: ENSMUSP00000138660
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 33 102 1.19e-19 SMART
SAM 107 175 5.66e-17 SMART
PTB 223 361 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182595
SMART Domains Protein: ENSMUSP00000138314
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 33 102 1.19e-19 SMART
SAM 107 175 5.66e-17 SMART
low complexity region 195 210 N/A INTRINSIC
PTB 283 421 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182284
SMART Domains Protein: ENSMUSP00000138794
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 33 102 1.19e-19 SMART
SAM 107 175 5.66e-17 SMART
PTB 248 386 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183136
SMART Domains Protein: ENSMUSP00000138738
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 33 102 1.19e-19 SMART
SAM 107 175 5.66e-17 SMART
low complexity region 195 210 N/A INTRINSIC
PTB 307 445 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182960
SMART Domains Protein: ENSMUSP00000138222
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 33 102 1.19e-19 SMART
SAM 107 175 5.66e-17 SMART
PTB 247 385 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182427
SMART Domains Protein: ENSMUSP00000138480
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 2 71 1.19e-19 SMART
SAM 76 144 5.66e-17 SMART
low complexity region 164 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182786
SMART Domains Protein: ENSMUSP00000138720
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
Pfam:SAM_2 1 42 8.4e-8 PFAM
Pfam:SAM_1 2 43 5.4e-7 PFAM
Pfam:SAM_1 51 97 4.4e-10 PFAM
Pfam:SAM_2 52 95 6.1e-7 PFAM
PTB 155 293 2.94e-38 SMART
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000182550
SMART Domains Protein: ENSMUSP00000138643
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 33 102 1.19e-19 SMART
SAM 107 175 5.66e-17 SMART
low complexity region 195 210 N/A INTRINSIC
PTB 308 446 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182600
SMART Domains Protein: ENSMUSP00000138650
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 1 45 4.05e1 SMART
SAM 50 118 5.66e-17 SMART
PTB 216 354 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182356
SMART Domains Protein: ENSMUSP00000138234
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
SAM 1 45 4.05e1 SMART
SAM 50 118 5.66e-17 SMART
low complexity region 138 153 N/A INTRINSIC
PTB 226 364 2.94e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182907
SMART Domains Protein: ENSMUSP00000138614
Gene: ENSMUSG00000058589

DomainStartEndE-ValueType
low complexity region 21 45 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,832,516 (GRCm39) R1153* probably null Het
Amdhd1 T C 10: 93,360,332 (GRCm39) H409R possibly damaging Het
Ascc2 T C 11: 4,631,506 (GRCm39) L649P probably benign Het
Chst15 A G 7: 131,872,246 (GRCm39) F12L probably benign Het
Clec4a4 A T 6: 122,981,017 (GRCm39) K83N probably benign Het
Comp T A 8: 70,829,011 (GRCm39) probably null Het
Cryz T A 3: 154,327,403 (GRCm39) S144T probably benign Het
Ctss A G 3: 95,450,424 (GRCm39) D125G probably benign Het
Dact1 G T 12: 71,365,456 (GRCm39) V746L possibly damaging Het
Dhx29 A G 13: 113,099,377 (GRCm39) H1134R probably damaging Het
Dlgap4 A G 2: 156,546,460 (GRCm39) D376G probably damaging Het
Dnah3 T A 7: 119,615,749 (GRCm39) H1660L probably damaging Het
Ep300 T A 15: 81,512,808 (GRCm39) probably benign Het
Fbxo30 A T 10: 11,165,262 (GRCm39) probably null Het
Fcrl2 T A 3: 87,164,094 (GRCm39) H345L probably damaging Het
Galnt11 C A 5: 25,452,670 (GRCm39) probably null Het
Il31ra A G 13: 112,682,846 (GRCm39) C87R probably benign Het
Itga4 A T 2: 79,117,442 (GRCm39) Q416L probably damaging Het
Kcnt2 A T 1: 140,461,666 (GRCm39) T806S probably damaging Het
Lama2 A G 10: 27,066,693 (GRCm39) S1063P probably damaging Het
Lama4 T A 10: 38,924,028 (GRCm39) S479T probably benign Het
Lgi4 C T 7: 30,759,603 (GRCm39) T53M possibly damaging Het
Limk1 A G 5: 134,686,789 (GRCm39) F533L probably damaging Het
Loxl1 A G 9: 58,220,006 (GRCm39) L55P probably damaging Het
Map1a A G 2: 121,135,697 (GRCm39) E1933G probably damaging Het
Matn2 T A 15: 34,409,912 (GRCm39) C447* probably null Het
Mmrn1 T C 6: 60,950,134 (GRCm39) probably null Het
Or2a7 C T 6: 43,151,646 (GRCm39) S242F probably damaging Het
Or4a66 A T 2: 88,531,049 (GRCm39) I208N possibly damaging Het
Or4d1 A T 11: 87,805,215 (GRCm39) N172K probably damaging Het
Otor A G 2: 142,920,431 (GRCm39) I4M probably benign Het
P2rx3 A T 2: 84,865,591 (GRCm39) V18E probably damaging Het
Pcdh7 T C 5: 57,879,097 (GRCm39) V884A probably damaging Het
Pcdhb4 T A 18: 37,442,619 (GRCm39) V643D probably damaging Het
Pelo A G 13: 115,225,930 (GRCm39) S176P possibly damaging Het
Ppp2r3d A T 9: 101,089,183 (GRCm39) V380E probably benign Het
Proc T A 18: 32,260,513 (GRCm39) D204V probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Resf1 T C 6: 149,236,179 (GRCm39) F1500L probably damaging Het
Rtl1 T G 12: 109,558,087 (GRCm39) T1251P possibly damaging Het
Sema6a T G 18: 47,414,405 (GRCm39) I482L probably benign Het
Smpdl3a T A 10: 57,681,654 (GRCm39) probably null Het
Strc T A 2: 121,209,790 (GRCm39) M178L probably benign Het
Taok1 A T 11: 77,451,144 (GRCm39) M312K probably damaging Het
Tle2 T C 10: 81,416,750 (GRCm39) probably null Het
Tle3 A G 9: 61,316,190 (GRCm39) D296G probably benign Het
Trank1 A G 9: 111,191,485 (GRCm39) D498G probably benign Het
Vars1 C A 17: 35,231,491 (GRCm39) L672M probably damaging Het
Vps13d G A 4: 144,826,580 (GRCm39) T2866I probably damaging Het
Zfp423 C A 8: 88,508,860 (GRCm39) E370* probably null Het
Zfp521 T A 18: 13,978,612 (GRCm39) K600N probably damaging Het
Zfp788 A G 7: 41,298,572 (GRCm39) K351E probably benign Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably 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
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
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'- CTAGCAGTCACATAGAACGCAG -3'
(R):5'- CCAATGCTTTCCAGCCATTG -3'

Sequencing Primer
(F):5'- AACGCAGAGCAGCCTAGGC -3'
(R):5'- AGCCATTGTCCCACTGTTTGG -3'
Posted On 2017-02-28