Incidental Mutation 'R1551:Anks1b'
ID 169935
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 039590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1551 (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 89912843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 289 (T289A)
Ref Sequence ENSEMBL: ENSMUSP00000138209 (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: T323A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: T323A

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
AA Change: T289A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: T289A

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: T60A
Predicted Effect probably benign
Transcript: ENSMUST00000183156
AA Change: T323A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: T323A

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: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 83.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,101 (GRCm39) I1534M probably benign Het
Acad11 G A 9: 104,003,785 (GRCm39) A626T probably damaging Het
Akap9 T A 5: 4,119,174 (GRCm39) N3560K probably benign Het
Aldh3a2 C T 11: 61,144,470 (GRCm39) V363I probably benign Het
Atp11a A G 8: 12,862,340 (GRCm39) N64S probably damaging Het
Atp11c T C X: 59,282,072 (GRCm39) probably null Het
Cd101 T C 3: 100,919,329 (GRCm39) H591R probably damaging Het
Cd36 C T 5: 18,002,120 (GRCm39) V294I probably benign Het
Cfap47 C A X: 78,532,251 (GRCm39) L842F probably damaging Het
Cgref1 T C 5: 31,090,929 (GRCm39) E295G probably benign Het
Cit A G 5: 116,083,901 (GRCm39) M787V probably benign Het
Clcn6 G A 4: 148,097,235 (GRCm39) P611S possibly damaging Het
Clec12a A C 6: 129,327,384 (GRCm39) M1L probably damaging Het
Cmtm6 C T 9: 114,575,573 (GRCm39) R161W probably damaging Het
Colec10 G T 15: 54,325,658 (GRCm39) V163L probably damaging Het
Coq8b A G 7: 26,956,907 (GRCm39) Y520C probably damaging Het
Ctsll3 C A 13: 60,948,821 (GRCm39) E45* probably null Het
Dsg3 A G 18: 20,669,975 (GRCm39) E663G possibly damaging Het
Dst G A 1: 34,231,293 (GRCm39) R2962H probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fbxo36 T C 1: 84,858,835 (GRCm39) I40T probably damaging Het
Fgd2 G A 17: 29,597,383 (GRCm39) V568M probably damaging Het
Fmn1 T C 2: 113,356,207 (GRCm39) Y883H possibly damaging Het
Fpr-rs4 A T 17: 18,242,589 (GRCm39) T199S possibly damaging Het
Gm12789 A G 4: 101,846,131 (GRCm39) K131E probably benign Het
Gm17641 C A 3: 68,777,448 (GRCm39) silent Het
Gm6665 G T 18: 31,953,340 (GRCm39) R43S probably damaging Het
Gzmc T A 14: 56,470,203 (GRCm39) H98L probably damaging Het
Hecw1 T A 13: 14,491,528 (GRCm39) E75V probably damaging Het
Herc2 G T 7: 55,796,417 (GRCm39) V1930L probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Htr6 A T 4: 138,801,776 (GRCm39) C99* probably null Het
Lgals2 C T 15: 78,736,511 (GRCm39) M16I probably benign Het
Lrrc8c A G 5: 105,756,090 (GRCm39) N622D probably damaging Het
Myo15a A T 11: 60,383,791 (GRCm39) I1613F possibly damaging Het
Oacyl C T 18: 65,875,280 (GRCm39) R455C probably benign Het
Or13c25 A T 4: 52,911,397 (GRCm39) Y132* probably null Het
Or5ac21 T A 16: 59,123,766 (GRCm39) N84K probably benign Het
Or5bh3 T C X: 49,098,872 (GRCm39) T81A possibly damaging Het
Orm3 A G 4: 63,275,146 (GRCm39) probably null Het
Phf2 G C 13: 48,985,579 (GRCm39) T67S unknown Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pigt T C 2: 164,349,323 (GRCm39) V542A probably damaging Het
Pnpla7 T C 2: 24,937,720 (GRCm39) F992L probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Pramel11 A G 4: 143,622,263 (GRCm39) M364T probably benign Het
Prmt7 A G 8: 106,964,014 (GRCm39) T303A probably benign Het
Prpf4b A T 13: 35,078,426 (GRCm39) I679F possibly damaging Het
Psd4 T A 2: 24,293,292 (GRCm39) M719K probably benign Het
Ranbp9 A T 13: 43,578,593 (GRCm39) M160K probably benign Het
Rfc1 A G 5: 65,434,706 (GRCm39) Y687H probably damaging Het
Rimbp2 T C 5: 128,883,423 (GRCm39) K119R probably damaging Het
Rnf113a1 T C X: 36,455,046 (GRCm39) M1T probably null Het
Rnf40 A C 7: 127,195,506 (GRCm39) K511Q possibly damaging Het
Ryr2 T A 13: 11,800,029 (GRCm39) probably null Het
Scrib A T 15: 75,937,011 (GRCm39) V365E probably damaging Het
Slc6a17 A G 3: 107,379,443 (GRCm39) V575A possibly damaging Het
Spta1 A G 1: 174,067,732 (GRCm39) N2053S possibly damaging Het
Ssbp2 G A 13: 91,790,511 (GRCm39) probably null Het
Stab1 G T 14: 30,882,456 (GRCm39) N460K probably benign Het
Tbc1d9 T A 8: 83,992,787 (GRCm39) C964S probably benign Het
Tmed11 A G 5: 108,927,680 (GRCm39) probably null Het
Tmem191 C A 16: 17,095,984 (GRCm39) R285S probably damaging Het
Tpr T C 1: 150,312,552 (GRCm39) S1917P probably benign Het
Vill A T 9: 118,892,440 (GRCm39) H357L probably benign Het
Vmn1r229 A G 17: 21,035,051 (GRCm39) T99A probably benign Het
Vmn2r14 A G 5: 109,369,283 (GRCm39) S97P probably damaging Het
Wasf2 G T 4: 132,917,483 (GRCm39) R194L 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
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
Predicted Primers PCR Primer
(F):5'- AGTGCCTTGCTTCTGCCTGATG -3'
(R):5'- CACATGCGGTTTGACGCTATCTTTG -3'

Sequencing Primer
(F):5'- ATGTTTCTAGCCACTTACGTGTTG -3'
(R):5'- ctctaccactgagctacacc -3'
Posted On 2014-04-13