Incidental Mutation 'R1237:Ankrd13b'
ID 152467
Institutional Source Beutler Lab
Gene Symbol Ankrd13b
Ensembl Gene ENSMUSG00000037907
Gene Name ankyrin repeat domain 13b
Synonyms B930093C12Rik
MMRRC Submission 039304-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R1237 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 77361311-77380504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77365400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 70 (T70A)
Ref Sequence ENSEMBL: ENSMUSP00000119633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037593] [ENSMUST00000052515] [ENSMUST00000092892] [ENSMUST00000102493] [ENSMUST00000108391] [ENSMUST00000145934]
AlphaFold Q5F259
Predicted Effect probably damaging
Transcript: ENSMUST00000037593
AA Change: T285A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: T285A

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: ENSMUST00000052515
SMART Domains Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 217 351 1.19e-91 SMART
low complexity region 374 389 N/A INTRINSIC
coiled coil region 390 424 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092892
AA Change: T285A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: T285A

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: ENSMUST00000102493
SMART Domains Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108391
SMART Domains Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000127291
AA Change: T32A
SMART Domains Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907
AA Change: T32A

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 damaging
Transcript: ENSMUST00000145934
AA Change: T70A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: T70A

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 2 276 9.7e-90 PFAM
UIM 288 307 1.81e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135227
Meta Mutation Damage Score 0.1283 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,096,223 (GRCm39) T500A probably damaging Het
Amz1 A T 5: 140,727,039 (GRCm39) M1L probably damaging Het
Angptl1 T A 1: 156,686,154 (GRCm39) N413K probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc174 C T 6: 91,867,768 (GRCm39) probably benign Het
Ccnc T A 4: 21,730,457 (GRCm39) F31L probably benign Het
Celsr1 A C 15: 85,788,175 (GRCm39) S2692R probably benign Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Ddhd1 A T 14: 45,839,107 (GRCm39) D65E probably benign Het
Dync1h1 A G 12: 110,632,393 (GRCm39) N4504S probably benign Het
Enthd1 A G 15: 80,418,799 (GRCm39) S167P probably damaging Het
Fat1 A T 8: 45,497,316 (GRCm39) Y4267F probably damaging Het
Hectd4 C T 5: 121,459,570 (GRCm39) A813V possibly damaging Het
Ibtk T C 9: 85,602,801 (GRCm39) S735G probably benign Het
Itga4 A G 2: 79,109,490 (GRCm39) I230V probably null Het
Kcnh8 A T 17: 53,200,988 (GRCm39) Q474L probably damaging Het
Kcnh8 G T 17: 53,200,989 (GRCm39) Q474H probably damaging Het
Mib1 C T 18: 10,768,149 (GRCm39) T466I probably damaging Het
Or12d12 T A 17: 37,611,156 (GRCm39) R52S probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or2l5 A C 16: 19,334,375 (GRCm39) Y4D probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Prdx6b A G 2: 80,123,520 (GRCm39) I110V probably benign Het
Prf1 A C 10: 61,139,428 (GRCm39) D462A probably benign Het
Rps6ka5 T C 12: 100,541,964 (GRCm39) D391G possibly damaging Het
Scn7a A T 2: 66,510,639 (GRCm39) N1254K probably damaging Het
Skor2 A T 18: 76,963,827 (GRCm39) K924* probably null Het
Slc22a21 A G 11: 53,870,598 (GRCm39) I29T probably benign Het
Tas2r140 T C 6: 133,032,171 (GRCm39) T196A probably benign Het
Thrap3 A G 4: 126,073,862 (GRCm39) S295P probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Unc93b1 A G 19: 3,985,228 (GRCm39) E12G possibly damaging Het
Vgll3 T A 16: 65,636,459 (GRCm39) Y203* probably null Het
Vmn1r212 G A 13: 23,067,638 (GRCm39) Q232* probably null Het
Vmn2r107 T A 17: 20,576,947 (GRCm39) L315* probably null Het
Vmn2r84 T A 10: 130,223,725 (GRCm39) probably null Het
Washc5 A G 15: 59,210,757 (GRCm39) probably benign 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
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
R8434:Ankrd13b UTSW 11 77,368,552 (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'- GTCTGAGCCATCCTGGCACTGG -3'
(R):5'- GGCAGAGGTCCCCTCTAAGACG -3'

Sequencing Primer
(F):5'- TTACAGCACCTGTCCTCACTTG -3'
(R):5'- acttccatactactgttcatcacc -3'
Posted On 2014-01-29