Incidental Mutation 'IGL02731:Ankrd13b'
ID305443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd13b
Ensembl Gene ENSMUSG00000037907
Gene Nameankyrin repeat domain 13b
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.388) question?
Stock #IGL02731
Quality Score
Status
Chromosome11
Chromosomal Location77470485-77489678 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77476219 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 9 (S9R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037593] [ENSMUST00000092892] [ENSMUST00000145934]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037593
AA Change: S262R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: S262R

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 possibly damaging
Transcript: ENSMUST00000092892
AA Change: S262R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: S262R

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 damaging
Transcript: ENSMUST00000127291
AA Change: S9R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907
AA Change: S9R

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 noncoding transcript
Transcript: ENSMUST00000135227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143872
Predicted Effect probably damaging
Transcript: ENSMUST00000145934
AA Change: S47R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: S47R

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 2 276 9.7e-90 PFAM
UIM 288 307 1.81e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A T 11: 61,893,476 D515E possibly damaging Het
Ano9 G A 7: 141,107,204 A374V probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep78 T A 19: 15,956,306 H636L probably benign Het
Chd2 A G 7: 73,493,456 V563A probably damaging Het
Cndp1 G T 18: 84,631,958 D203E probably damaging Het
Col16a1 G A 4: 130,053,530 probably benign Het
Copa T C 1: 172,102,218 V284A possibly damaging Het
Dlec1 A G 9: 119,147,120 T1656A probably benign Het
Dopey1 T C 9: 86,487,381 I89T probably damaging Het
Eif2ak4 T C 2: 118,388,814 S36P probably benign Het
Ep300 A T 15: 81,648,414 I1618F unknown Het
Fan1 G A 7: 64,372,993 L171F possibly damaging Het
Fancm A G 12: 65,088,305 T291A probably benign Het
Gm14325 T C 2: 177,832,986 K101R probably damaging Het
Hmx3 A T 7: 131,543,963 probably null Het
Htt G T 5: 34,803,793 V255L probably benign Het
L3mbtl3 C T 10: 26,344,176 probably null Het
Lmbr1l A G 15: 98,917,896 L9P probably damaging Het
Lyzl6 A T 11: 103,635,077 Y72* probably null Het
Mib1 A G 18: 10,800,115 E818G possibly damaging Het
Neb T C 2: 52,160,703 T6405A probably damaging Het
Npas3 A G 12: 54,067,795 D482G probably benign Het
Nuak2 C A 1: 132,316,357 A43E probably damaging Het
Olfr1123 G A 2: 87,418,707 V220I probably benign Het
Olfr1242 T C 2: 89,493,457 Y285C probably damaging Het
Olfr1289 A T 2: 111,483,528 I33L probably benign Het
Olfr1434 T C 19: 12,283,842 S265P probably damaging Het
Pde11a C A 2: 75,991,239 A899S probably benign Het
Ppfibp2 A T 7: 107,746,422 I884F possibly damaging Het
Pus7l A G 15: 94,523,464 V655A probably benign Het
Rad51ap2 A G 12: 11,456,896 D273G probably damaging Het
Rc3h2 T C 2: 37,382,811 D751G probably benign Het
Sdk1 C T 5: 142,172,544 A1863V probably damaging Het
Spns3 T C 11: 72,529,577 Y361C probably damaging Het
Srp72 T A 5: 76,994,215 I372N probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tcf20 A G 15: 82,853,237 S1338P probably benign Het
Tcte1 G A 17: 45,539,886 V363I probably benign Het
Vmn1r42 T C 6: 89,845,425 K54R probably benign Het
Vps13b A G 15: 35,917,128 N3706S probably benign Het
Vwde T C 6: 13,192,614 Y430C probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Zfp959 G A 17: 55,895,956 probably benign Het
Other mutations in Ankrd13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Ankrd13b APN 11 77472752 missense probably damaging 1.00
IGL01396:Ankrd13b APN 11 77472372 unclassified probably null
R0310:Ankrd13b UTSW 11 77472745 missense possibly damaging 0.71
R0496:Ankrd13b UTSW 11 77473041 missense probably damaging 1.00
R0511:Ankrd13b UTSW 11 77473288 missense possibly damaging 0.89
R0831:Ankrd13b UTSW 11 77472759 missense probably damaging 0.99
R1156:Ankrd13b UTSW 11 77472861 missense probably damaging 1.00
R1237:Ankrd13b UTSW 11 77474574 missense probably damaging 1.00
R2259:Ankrd13b UTSW 11 77476342 missense probably damaging 1.00
R3110:Ankrd13b UTSW 11 77477505 missense possibly damaging 0.67
R3112:Ankrd13b UTSW 11 77477505 missense possibly damaging 0.67
R4190:Ankrd13b UTSW 11 77476375 missense probably damaging 1.00
R4471:Ankrd13b UTSW 11 77476214 missense probably damaging 1.00
R4599:Ankrd13b UTSW 11 77471668 missense probably benign
R5253:Ankrd13b UTSW 11 77473235 intron probably benign
R5677:Ankrd13b UTSW 11 77477544 missense probably damaging 0.99
R7073:Ankrd13b UTSW 11 77472509 missense probably benign 0.39
R7388:Ankrd13b UTSW 11 77472757 missense probably benign 0.02
R7417:Ankrd13b UTSW 11 77476194 missense probably damaging 0.97
R7592:Ankrd13b UTSW 11 77476501 missense probably benign 0.45
R7596:Ankrd13b UTSW 11 77472314 missense probably benign 0.18
R7643:Ankrd13b UTSW 11 77473085 missense probably benign 0.01
Posted On2015-04-16