Incidental Mutation 'R8434:Ankrd13b'
ID 653911
Institutional Source Beutler Lab
Gene Symbol Ankrd13b
Ensembl Gene ENSMUSG00000037907
Gene Name ankyrin repeat domain 13b
Synonyms B930093C12Rik
MMRRC Submission 067900-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R8434 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77361311-77380504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77368552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 56 (T56I)
Ref Sequence ENSEMBL: ENSMUSP00000073584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037593] [ENSMUST00000092892] [ENSMUST00000145934]
AlphaFold Q5F259
Predicted Effect probably benign
Transcript: ENSMUST00000037593
AA Change: T56I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: T56I

DomainStartEndE-ValueType
ANK 13 43 3.16e2 SMART
ANK 47 76 2.85e-5 SMART
ANK 80 109 1.17e2 SMART
Pfam:GPCR_chapero_1 163 491 5.5e-111 PFAM
UIM 503 522 1.81e-1 SMART
low complexity region 552 580 N/A INTRINSIC
UIM 585 604 3.15e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092892
AA Change: T56I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: T56I

DomainStartEndE-ValueType
ANK 13 43 3.16e2 SMART
ANK 47 76 2.85e-5 SMART
ANK 80 109 1.17e2 SMART
Pfam:GPCR_chapero_1 163 490 3.2e-110 PFAM
UIM 503 522 1.81e-1 SMART
low complexity region 673 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127291
SMART Domains Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 1 120 9.7e-31 PFAM
low complexity region 121 133 N/A INTRINSIC
low complexity region 184 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145934
SMART Domains Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 2 276 9.7e-90 PFAM
UIM 288 307 1.81e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,021 (GRCm39) T737A probably damaging Het
2310034C09Rik A G 16: 88,556,260 (GRCm39) Y158C probably damaging Het
Abhd18 T A 3: 40,885,331 (GRCm39) S239T possibly damaging Het
Arhgef10l T A 4: 140,291,582 (GRCm39) Q454L possibly damaging Het
Atp1a2 T C 1: 172,112,179 (GRCm39) E572G probably benign Het
Cdk5rap2 T C 4: 70,282,257 (GRCm39) H164R probably benign Het
Clca4b A G 3: 144,631,917 (GRCm39) M196T probably benign Het
Cnbd1 T G 4: 19,055,045 (GRCm39) K127T probably benign Het
Cog3 A T 14: 75,979,836 (GRCm39) V165E probably damaging Het
Crim1 G A 17: 78,654,686 (GRCm39) R654H probably benign Het
Ctnnb1 G A 9: 120,786,628 (GRCm39) V617I possibly damaging Het
Dach1 T A 14: 98,406,129 (GRCm39) Q206L probably damaging Het
Dhx30 C T 9: 109,929,974 (GRCm39) V41I probably benign Het
Dnase2a T C 8: 85,636,410 (GRCm39) L176P probably damaging Het
Dpp10 T C 1: 123,360,739 (GRCm39) D262G probably damaging Het
Dsel T A 1: 111,789,385 (GRCm39) E383D probably damaging Het
Flt1 T A 5: 147,576,253 (GRCm39) Y585F probably damaging Het
Fubp1 T A 3: 151,926,190 (GRCm39) I304N probably damaging Het
Gab2 A G 7: 96,948,337 (GRCm39) D309G probably damaging Het
Gon4l T C 3: 88,762,086 (GRCm39) V291A probably damaging Het
Gpam C T 19: 55,070,063 (GRCm39) V398M possibly damaging Het
Grin3b C T 10: 79,810,422 (GRCm39) R643C probably damaging Het
Hdac3 T A 18: 38,074,475 (GRCm39) H339L possibly damaging Het
Hsdl2 A T 4: 59,610,621 (GRCm39) Q326L unknown Het
Insr T C 8: 3,215,514 (GRCm39) probably benign Het
Ivl T A 3: 92,479,943 (GRCm39) T41S probably benign Het
Lama4 C T 10: 38,902,703 (GRCm39) P226S possibly damaging Het
Lpin1 A G 12: 16,613,621 (GRCm39) probably null Het
Lrrc42 A T 4: 107,104,721 (GRCm39) N81K probably damaging Het
Mast4 A T 13: 102,897,900 (GRCm39) H838Q probably damaging Het
Mcmdc2 A G 1: 9,990,806 (GRCm39) M314V possibly damaging Het
Me3 A G 7: 89,389,086 (GRCm39) E130G probably damaging Het
Mpnd A G 17: 56,316,405 (GRCm39) D28G possibly damaging Het
Mtch2 G T 2: 90,683,208 (GRCm39) E102* probably null Het
Myh13 A T 11: 67,254,011 (GRCm39) probably null Het
Or10ag55-ps1 G A 2: 87,114,978 (GRCm39) V115I probably benign Het
Or5ae2 C A 7: 84,506,497 (GRCm39) H309N probably benign Het
Plch2 T A 4: 155,074,192 (GRCm39) D891V probably damaging Het
Ppfibp2 T C 7: 107,327,957 (GRCm39) probably null Het
Rag1 A G 2: 101,473,009 (GRCm39) L711P probably damaging Het
Sacs T A 14: 61,450,636 (GRCm39) Y4227* probably null Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sema3a T C 5: 13,523,487 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,563 (GRCm39) G219R probably damaging Het
Sp1 C T 15: 102,318,118 (GRCm39) L546F probably benign Het
Syne1 T C 10: 5,073,057 (GRCm39) N1256S probably benign Het
Tbc1d5 G T 17: 51,089,455 (GRCm39) probably benign Het
Tns1 T C 1: 73,964,765 (GRCm39) S33G probably benign Het
Tpsab1 A G 17: 25,564,445 (GRCm39) L3P possibly damaging Het
Trgv3 A G 13: 19,427,036 (GRCm39) T8A probably benign Het
Vav2 A T 2: 27,159,050 (GRCm39) probably benign Het
Vmn1r44 T C 6: 89,870,610 (GRCm39) S119P possibly damaging Het
Vmn2r31 A G 7: 7,387,699 (GRCm39) L624P probably damaging Het
Vps33a A T 5: 123,671,944 (GRCm39) W475R possibly damaging Het
Xpnpep3 G T 15: 81,311,795 (GRCm39) R167L possibly damaging Het
Zfhx4 T A 3: 5,463,918 (GRCm39) S1384T probably damaging Het
Zfp3 G A 11: 70,663,384 (GRCm39) E448K probably benign Het
Zfp362 T A 4: 128,679,769 (GRCm39) H299L probably damaging Het
Zfp664 C T 5: 124,962,827 (GRCm39) L74F possibly damaging Het
Zfp808 A G 13: 62,319,926 (GRCm39) Y385C probably damaging Het
Other mutations in Ankrd13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Ankrd13b APN 11 77,363,578 (GRCm39) missense probably damaging 1.00
IGL01396:Ankrd13b APN 11 77,363,198 (GRCm39) splice site probably null
IGL02731:Ankrd13b APN 11 77,367,045 (GRCm39) missense probably damaging 0.99
R0310:Ankrd13b UTSW 11 77,363,571 (GRCm39) missense possibly damaging 0.71
R0496:Ankrd13b UTSW 11 77,363,867 (GRCm39) missense probably damaging 1.00
R0511:Ankrd13b UTSW 11 77,364,114 (GRCm39) missense possibly damaging 0.89
R0831:Ankrd13b UTSW 11 77,363,585 (GRCm39) missense probably damaging 0.99
R1156:Ankrd13b UTSW 11 77,363,687 (GRCm39) missense probably damaging 1.00
R1237:Ankrd13b UTSW 11 77,365,400 (GRCm39) missense probably damaging 1.00
R2259:Ankrd13b UTSW 11 77,367,168 (GRCm39) missense probably damaging 1.00
R3110:Ankrd13b UTSW 11 77,368,331 (GRCm39) missense possibly damaging 0.67
R3112:Ankrd13b UTSW 11 77,368,331 (GRCm39) missense possibly damaging 0.67
R4190:Ankrd13b UTSW 11 77,367,201 (GRCm39) missense probably damaging 1.00
R4471:Ankrd13b UTSW 11 77,367,040 (GRCm39) missense probably damaging 1.00
R4599:Ankrd13b UTSW 11 77,362,494 (GRCm39) missense probably benign
R5253:Ankrd13b UTSW 11 77,364,061 (GRCm39) intron probably benign
R5677:Ankrd13b UTSW 11 77,368,370 (GRCm39) missense probably damaging 0.99
R7073:Ankrd13b UTSW 11 77,363,335 (GRCm39) missense probably benign 0.39
R7388:Ankrd13b UTSW 11 77,363,583 (GRCm39) missense probably benign 0.02
R7417:Ankrd13b UTSW 11 77,367,020 (GRCm39) missense probably damaging 0.97
R7592:Ankrd13b UTSW 11 77,367,327 (GRCm39) missense probably benign 0.45
R7596:Ankrd13b UTSW 11 77,363,140 (GRCm39) missense probably benign 0.18
R7643:Ankrd13b UTSW 11 77,363,911 (GRCm39) missense probably benign 0.01
R8959:Ankrd13b UTSW 11 77,367,452 (GRCm39) missense probably damaging 1.00
R9668:Ankrd13b UTSW 11 77,368,594 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TAGCTTCTCCAGGAGCATGG -3'
(R):5'- TCCTGGCATAGCTCATCATGTC -3'

Sequencing Primer
(F):5'- TTCTCCAGGAGCATGGGGATAC -3'
(R):5'- GCATAGCTCATCATGTCGGTCTC -3'
Posted On 2020-10-20