Incidental Mutation 'R6285:Gpank1'
ID 508207
Institutional Source Beutler Lab
Gene Symbol Gpank1
Ensembl Gene ENSMUSG00000092417
Gene Name G patch domain and ankyrin repeats 1
Synonyms D17H6S54E, G5, Bat4
MMRRC Submission 044455-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6285 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35340472-35343791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35343266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 226 (S226T)
Ref Sequence ENSEMBL: ENSMUSP00000133240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025246] [ENSMUST00000025249] [ENSMUST00000052167] [ENSMUST00000061859] [ENSMUST00000165306] [ENSMUST00000172765] [ENSMUST00000173114] [ENSMUST00000174779] [ENSMUST00000173043] [ENSMUST00000173380] [ENSMUST00000173915] [ENSMUST00000174306] [ENSMUST00000174024]
AlphaFold Q61858
Predicted Effect probably benign
Transcript: ENSMUST00000025246
SMART Domains Protein: ENSMUSP00000025246
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 191 9.99e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025249
SMART Domains Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391

DomainStartEndE-ValueType
Pfam:ApoM 1 189 9.2e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000052167
AA Change: S249T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417
AA Change: S249T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 82 99 N/A INTRINSIC
ANK 156 186 4.36e-1 SMART
G_patch 269 315 1.45e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061859
SMART Domains Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311

DomainStartEndE-ValueType
Pfam:DUF4661 16 264 8.3e-141 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165306
AA Change: S226T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417
AA Change: S226T

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
ANK 133 163 4.36e-1 SMART
G_patch 246 292 1.45e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172765
SMART Domains Protein: ENSMUSP00000134523
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 29 206 6.86e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174855
Predicted Effect probably benign
Transcript: ENSMUST00000173114
SMART Domains Protein: ENSMUSP00000134218
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 191 9.99e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174779
SMART Domains Protein: ENSMUSP00000133684
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 1 140 2.47e-83 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173576
Predicted Effect probably benign
Transcript: ENSMUST00000173043
SMART Domains Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
ANK 133 163 2.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173380
SMART Domains Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173915
SMART Domains Protein: ENSMUSP00000133425
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 58 6.45e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174306
SMART Domains Protein: ENSMUSP00000134413
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 122 3.01e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174024
SMART Domains Protein: ENSMUSP00000134673
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 169 5.07e-71 SMART
Blast:CK_II_beta 189 220 6e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177018
Meta Mutation Damage Score 0.0861 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,136,324 (GRCm39) M370L probably benign Het
Aimp1 A G 3: 132,373,265 (GRCm39) M225T possibly damaging Het
Atp8a1 T C 5: 67,824,950 (GRCm39) I809V possibly damaging Het
Bbs10 A G 10: 111,135,622 (GRCm39) Y245C probably damaging Het
Cabin1 A T 10: 75,520,157 (GRCm39) F1572Y probably damaging Het
Cd79a A G 7: 24,598,772 (GRCm39) N107S possibly damaging Het
Cdc7 G A 5: 107,130,925 (GRCm39) A428T probably benign Het
Cep290 A G 10: 100,359,191 (GRCm39) T974A probably benign Het
Cep350 A T 1: 155,829,120 (GRCm39) N261K possibly damaging Het
Cfap46 T A 7: 139,241,001 (GRCm39) D8V probably damaging Het
Col6a4 T C 9: 105,952,185 (GRCm39) D571G probably damaging Het
Cpe A C 8: 65,070,645 (GRCm39) V200G probably benign Het
Ctnnd1 C T 2: 84,444,231 (GRCm39) probably null Het
D5Ertd579e A C 5: 36,772,921 (GRCm39) C491W probably damaging Het
Dek A G 13: 47,252,856 (GRCm39) I183T probably damaging Het
Dennd1a A T 2: 37,742,453 (GRCm39) H437Q possibly damaging Het
Dido1 C T 2: 180,302,940 (GRCm39) A1655T probably benign Het
Eva1b A G 4: 126,043,278 (GRCm39) D106G probably damaging Het
Evc2 G T 5: 37,581,923 (GRCm39) S1189I possibly damaging Het
Faap100 A T 11: 120,267,558 (GRCm39) L405Q probably damaging Het
Fbxw15 T A 9: 109,386,234 (GRCm39) M249L probably benign Het
Gbp10 A T 5: 105,366,326 (GRCm39) L526Q probably damaging Het
Gm19402 A C 10: 77,526,354 (GRCm39) probably benign Het
Gm2244 A G 14: 19,590,865 (GRCm39) Y141H probably damaging Het
Gm4181 A T 14: 51,870,666 (GRCm39) N98K probably damaging Het
Golga4 C T 9: 118,387,695 (GRCm39) R616* probably null Het
Hipk3 T C 2: 104,301,770 (GRCm39) M141V probably damaging Het
Hoxc11 T C 15: 102,863,178 (GRCm39) V73A probably benign Het
Igf1r T G 7: 67,653,885 (GRCm39) I141S possibly damaging Het
Jak2 T A 19: 29,273,059 (GRCm39) F628I probably benign Het
Kcp C A 6: 29,502,364 (GRCm39) V227L probably benign Het
Knl1 T G 2: 118,902,422 (GRCm39) C1374W probably damaging Het
Larp6 A T 9: 60,645,043 (GRCm39) R394S probably benign Het
Lilra5 G A 7: 4,245,114 (GRCm39) G253R probably damaging Het
Map3k4 A G 17: 12,482,945 (GRCm39) S591P probably damaging Het
Mdfic2 T C 6: 98,215,134 (GRCm39) D163G probably damaging Het
Minar2 A G 18: 59,205,296 (GRCm39) K28R probably benign Het
Mrpl16 T A 19: 11,750,332 (GRCm39) I72K probably damaging Het
Nol11 C G 11: 107,071,860 (GRCm39) R244S probably benign Het
Nr2f1 T C 13: 78,343,782 (GRCm39) T161A probably benign Het
Nrdc G T 4: 108,895,203 (GRCm39) V476F probably damaging Het
Or10j7 G T 1: 173,011,477 (GRCm39) H175N probably damaging Het
Or10z1 A T 1: 174,078,395 (GRCm39) S33T possibly damaging Het
Or13a22 T A 7: 140,072,626 (GRCm39) L25Q possibly damaging Het
Or13m2-ps1 A T 6: 42,777,843 (GRCm39) H56L probably benign Het
P2rx1 A G 11: 72,898,974 (GRCm39) I62V probably benign Het
Pcdhgc5 A T 18: 37,953,674 (GRCm39) Y316F probably benign Het
Pecam1 T C 11: 106,576,065 (GRCm39) D490G probably benign Het
Pfkfb2 A T 1: 130,635,299 (GRCm39) Y87* probably null Het
Poldip2 A G 11: 78,408,458 (GRCm39) probably null Het
Ppp2r5b T A 19: 6,280,566 (GRCm39) Q304L probably benign Het
Pramel26 A G 4: 143,542,609 (GRCm39) C4R probably damaging Het
Psg26 A G 7: 18,216,753 (GRCm39) F29L probably benign Het
Ptk6 A T 2: 180,838,886 (GRCm39) L289Q probably null Het
Ptprt A T 2: 161,743,417 (GRCm39) I508N possibly damaging Het
Rasgrp4 T C 7: 28,847,808 (GRCm39) F406S probably damaging Het
Rspo3 A G 10: 29,375,926 (GRCm39) probably null Het
Septin8 G T 11: 53,425,594 (GRCm39) probably null Het
Sirt2 A C 7: 28,487,471 (GRCm39) T345P probably benign Het
Slc6a20b T C 9: 123,438,161 (GRCm39) E205G possibly damaging Het
Sqstm1 G A 11: 50,093,418 (GRCm39) Q327* probably null Het
Susd3 T A 13: 49,390,997 (GRCm39) S98C probably damaging Het
Tada2b G A 5: 36,634,186 (GRCm39) R56W probably damaging Het
Tbc1d2 A T 4: 46,615,045 (GRCm39) V546E possibly damaging Het
Tbx6 A G 7: 126,380,740 (GRCm39) Q21R possibly damaging Het
Usp24 T G 4: 106,231,297 (GRCm39) probably null Het
Vinac1 T G 2: 128,879,719 (GRCm39) T736P possibly damaging Het
Vmn2r103 A G 17: 20,032,406 (GRCm39) T727A probably benign Het
Wdr48 C T 9: 119,749,676 (GRCm39) T531M probably damaging Het
Other mutations in Gpank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0515:Gpank1 UTSW 17 35,342,475 (GRCm39) missense probably damaging 1.00
R1055:Gpank1 UTSW 17 35,343,284 (GRCm39) missense probably damaging 1.00
R2850:Gpank1 UTSW 17 35,343,557 (GRCm39) missense probably benign 0.21
R4274:Gpank1 UTSW 17 35,343,245 (GRCm39) missense probably benign 0.22
R5716:Gpank1 UTSW 17 35,342,229 (GRCm39) missense probably damaging 0.97
R9090:Gpank1 UTSW 17 35,340,734 (GRCm39) unclassified probably benign
R9271:Gpank1 UTSW 17 35,340,734 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AAGATGCTGCTGACATTGGG -3'
(R):5'- GGGATCTATAACCCAATCCTTCCTG -3'

Sequencing Primer
(F):5'- TGCTGCTGACATTGGGAGAAAG -3'
(R):5'- CCTGGTCCCTCTTGAGGATAG -3'
Posted On 2018-03-15