Incidental Mutation 'R7596:Ankrd13b'
ID 587738
Institutional Source Beutler Lab
Gene Symbol Ankrd13b
Ensembl Gene ENSMUSG00000037907
Gene Name ankyrin repeat domain 13b
Synonyms B930093C12Rik
MMRRC Submission 045671-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R7596 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77361311-77380504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 77363140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 547 (R547L)
Ref Sequence ENSEMBL: ENSMUSP00000073584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021190] [ENSMUST00000037593] [ENSMUST00000052515] [ENSMUST00000079770] [ENSMUST00000092892] [ENSMUST00000102493] [ENSMUST00000108391] [ENSMUST00000145934]
AlphaFold Q5F259
Predicted Effect probably benign
Transcript: ENSMUST00000021190
SMART Domains Protein: ENSMUSP00000021190
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: ENSMUST00000037593
AA Change: R547L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: R547L

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 benign
Transcript: ENSMUST00000079770
SMART Domains Protein: ENSMUSP00000078703
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 390 423 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092892
AA Change: R547L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: R547L

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 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
AA Change: R332L

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: R332L

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (53/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G A 16: 88,556,224 (GRCm39) S146N probably damaging Het
Adam26b A C 8: 43,973,237 (GRCm39) D588E probably benign Het
Bckdk G T 7: 127,505,572 (GRCm39) E232* probably null Het
C8a T C 4: 104,711,064 (GRCm39) K244E possibly damaging Het
Cad A G 5: 31,226,392 (GRCm39) I1145V probably benign Het
Cd28 C A 1: 60,802,487 (GRCm39) H135Q possibly damaging Het
Ceacam19 A G 7: 19,615,812 (GRCm39) I209T possibly damaging Het
Cecr2 A G 6: 120,739,167 (GRCm39) N1298S probably benign Het
Cpne5 C T 17: 29,445,191 (GRCm39) D38N possibly damaging Het
Dcn A T 10: 97,345,871 (GRCm39) I228F probably damaging Het
Gm5591 T G 7: 38,219,608 (GRCm39) I422L probably benign Het
Gnptab T G 10: 88,279,232 (GRCm39) F1201V probably damaging Het
Hc A G 2: 34,890,859 (GRCm39) V1319A probably damaging Het
Htr3b T C 9: 48,847,361 (GRCm39) N385D probably benign Het
Ikbip A T 10: 90,918,891 (GRCm39) probably benign Het
Kcnk1 T C 8: 126,722,350 (GRCm39) L51P probably damaging Het
Lcn2 A G 2: 32,275,721 (GRCm39) Y160H probably damaging Het
Lig1 T C 7: 13,039,923 (GRCm39) S712P probably damaging Het
Lrrc19 T G 4: 94,531,592 (GRCm39) M7L probably benign Het
Lrrc4b C T 7: 44,111,310 (GRCm39) T394M probably damaging Het
Map7 A G 10: 20,153,927 (GRCm39) N681S unknown Het
Mdga2 A T 12: 66,552,897 (GRCm39) M912K probably damaging Het
Mlst8 C T 17: 24,697,084 (GRCm39) probably null Het
Ms4a13 A T 19: 11,147,329 (GRCm39) V195D unknown Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Nr4a2 G C 2: 56,998,243 (GRCm39) F574L probably damaging Het
Nup107 T C 10: 117,613,065 (GRCm39) N288D probably damaging Het
Or11g26 A T 14: 50,753,002 (GRCm39) T114S probably benign Het
Or13a1 T A 6: 116,471,158 (GRCm39) V196D probably benign Het
Or5b3 C T 19: 13,388,511 (GRCm39) H193Y probably benign Het
Pcolce A G 5: 137,605,087 (GRCm39) probably null Het
Pik3cg A G 12: 32,254,740 (GRCm39) F416L probably damaging Het
Podnl1 A G 8: 84,853,024 (GRCm39) I65V Het
Prpf8 T C 11: 75,382,330 (GRCm39) F387S probably benign Het
Rev3l A G 10: 39,697,534 (GRCm39) Y677C probably damaging Het
Rhpn1 A G 15: 75,584,162 (GRCm39) T430A probably benign Het
Rnf187 T C 11: 58,829,241 (GRCm39) R124G possibly damaging Het
Rpl9-ps6 C T 19: 32,443,783 (GRCm39) V57I probably benign Het
Samhd1 A T 2: 156,943,754 (GRCm39) F587I probably damaging Het
Slc30a6 A G 17: 74,722,664 (GRCm39) T244A probably benign Het
Slc35f4 T A 14: 49,543,666 (GRCm39) Y310F probably damaging Het
Smarcc2 A G 10: 128,318,662 (GRCm39) Y648C probably damaging Het
Smc5 A C 19: 23,191,533 (GRCm39) V889G probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spopfm2 T A 3: 94,083,737 (GRCm39) T25S probably benign Het
Tango2 A G 16: 18,120,574 (GRCm39) V229A probably damaging Het
Tnks1bp1 A G 2: 84,893,057 (GRCm39) T995A probably benign Het
Trio A T 15: 27,749,912 (GRCm39) I2263N probably damaging Het
Ttc28 T C 5: 111,427,990 (GRCm39) F1829L probably damaging Het
Ttn A G 2: 76,638,923 (GRCm39) S13920P probably damaging Het
Ube2b T C 11: 51,877,570 (GRCm39) N133S probably damaging Het
Ubn1 T A 16: 4,899,422 (GRCm39) H1055Q probably benign Het
Ubtf G A 11: 102,197,533 (GRCm39) T705M unknown Het
Vmn2r109 A T 17: 20,760,942 (GRCm39) M805K probably damaging Het
Vsig10 T C 5: 117,472,848 (GRCm39) V147A possibly damaging Het
Zbtb16 C A 9: 48,743,704 (GRCm39) V203L possibly 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
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'- AAGCCATCTTGATAACGGGTTC -3'
(R):5'- TGAAGATGATGACCTGCTGCG -3'

Sequencing Primer
(F):5'- CTTGATAACGGGTTCTCGATACCAG -3'
(R):5'- TTTGCCATCCAGCAGAGC -3'
Posted On 2019-10-24