Incidental Mutation 'IGL01018:Ipcef1'
ID 53819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipcef1
Ensembl Gene ENSMUSG00000064065
Gene Name interaction protein for cytohesin exchange factors 1
Synonyms A130090K04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01018
Quality Score
Status
Chromosome 10
Chromosomal Location 6835779-6973185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6869968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 144 (R144Q)
Ref Sequence ENSEMBL: ENSMUSP00000128131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052751] [ENSMUST00000063036] [ENSMUST00000078070] [ENSMUST00000086896] [ENSMUST00000105601] [ENSMUST00000105611] [ENSMUST00000105617] [ENSMUST00000145156] [ENSMUST00000123861] [ENSMUST00000129954] [ENSMUST00000135502] [ENSMUST00000105615] [ENSMUST00000147171] [ENSMUST00000144264] [ENSMUST00000129221] [ENSMUST00000170680] [ENSMUST00000154941]
AlphaFold Q5DU31
Predicted Effect probably benign
Transcript: ENSMUST00000052751
SMART Domains Protein: ENSMUSP00000060329
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 76 325 1.1e-7 PFAM
Pfam:7TM_GPCR_Srsx 79 351 1e-10 PFAM
Pfam:7tm_1 85 336 3.2e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063036
SMART Domains Protein: ENSMUSP00000053498
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7tm_1 24 268 8.7e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078070
AA Change: R195Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: R195Q

DomainStartEndE-ValueType
PH 14 114 5.87e-20 SMART
low complexity region 132 150 N/A INTRINSIC
low complexity region 246 261 N/A INTRINSIC
Blast:PH 286 343 1e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000086896
AA Change: R144Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084110
Gene: ENSMUSG00000064065
AA Change: R144Q

DomainStartEndE-ValueType
Pfam:PH 3 65 7.4e-8 PFAM
low complexity region 85 106 N/A INTRINSIC
low complexity region 195 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105601
SMART Domains Protein: ENSMUSP00000101226
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
SCOP:d1l9ha_ 46 100 3e-9 SMART
PDB:4DKL|A 52 100 3e-21 PDB
low complexity region 119 131 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105611
SMART Domains Protein: ENSMUSP00000101236
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 76 338 1.7e-7 PFAM
Pfam:7TM_GPCR_Srsx 79 351 1.4e-10 PFAM
Pfam:7tm_1 85 336 4.4e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105617
AA Change: R191Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: R191Q

DomainStartEndE-ValueType
PH 14 114 5.87e-20 SMART
low complexity region 132 153 N/A INTRINSIC
low complexity region 242 257 N/A INTRINSIC
Blast:PH 282 339 1e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000145156
AA Change: R214Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114267
Gene: ENSMUSG00000064065
AA Change: R214Q

DomainStartEndE-ValueType
PH 37 137 5.87e-20 SMART
low complexity region 155 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144622
Predicted Effect probably benign
Transcript: ENSMUST00000123861
SMART Domains Protein: ENSMUSP00000120187
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
SCOP:d1l9ha_ 46 100 3e-9 SMART
PDB:4DKL|A 52 100 3e-21 PDB
low complexity region 119 131 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129954
SMART Domains Protein: ENSMUSP00000122385
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 76 338 6.9e-8 PFAM
Pfam:7TM_GPCR_Srsx 79 351 1.5e-10 PFAM
Pfam:7tm_1 85 336 5.4e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135502
SMART Domains Protein: ENSMUSP00000135143
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 76 339 2.2e-7 PFAM
Pfam:7TM_GPCR_Srsx 79 351 1.9e-10 PFAM
Pfam:7tm_1 85 336 7.5e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105615
SMART Domains Protein: ENSMUSP00000101240
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7tm_1 24 268 1.3e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147171
SMART Domains Protein: ENSMUSP00000117950
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7tm_1 24 268 9.2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144264
SMART Domains Protein: ENSMUSP00000115836
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 76 325 1.7e-7 PFAM
Pfam:7TM_GPCR_Srsx 79 351 1e-10 PFAM
Pfam:7tm_1 85 336 3.4e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129221
SMART Domains Protein: ENSMUSP00000123117
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 12 261 1.1e-7 PFAM
Pfam:7TM_GPCR_Srsx 15 287 7.3e-11 PFAM
Pfam:7tm_1 21 272 2.4e-67 PFAM
low complexity region 340 351 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170680
AA Change: R144Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128131
Gene: ENSMUSG00000064065
AA Change: R144Q

DomainStartEndE-ValueType
Pfam:PH 3 65 7.4e-8 PFAM
low complexity region 85 106 N/A INTRINSIC
low complexity region 195 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154998
Predicted Effect probably benign
Transcript: ENSMUST00000154941
SMART Domains Protein: ENSMUSP00000115413
Gene: ENSMUSG00000000766

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 12 261 9.6e-8 PFAM
Pfam:7TM_GPCR_Srsx 15 287 6.1e-11 PFAM
Pfam:7tm_1 21 272 2e-67 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik G T 6: 133,271,460 (GRCm39) R168I probably benign Het
5530400C23Rik A T 6: 133,271,461 (GRCm39) R168S probably benign Het
Armt1 T A 10: 4,400,732 (GRCm39) S160T probably benign Het
Armt1 C T 10: 4,404,237 (GRCm39) probably benign Het
Ccdc170 T C 10: 4,462,788 (GRCm39) W35R probably benign Het
Ccdc170 T C 10: 4,464,114 (GRCm39) V31A probably benign Het
Ccdc170 G T 10: 4,464,155 (GRCm39) A99S probably benign Het
Glp2r C A 11: 67,600,470 (GRCm39) V460F probably benign Het
Gm21411 C T 4: 146,977,067 (GRCm39) S69N possibly damaging Het
Gm21411 T C 4: 146,977,034 (GRCm39) Q80R probably benign Het
Gm21738 G A 14: 19,418,856 (GRCm38) P24L probably benign Het
H2-M10.6 C T 17: 37,123,112 (GRCm39) A15V probably benign Het
H60c T C 10: 3,209,766 (GRCm39) M174V probably benign Het
H60c A C 10: 3,210,343 (GRCm39) F69V probably benign Het
Mapk8ip3 T G 17: 25,118,693 (GRCm39) probably benign Het
Mthfd1l T C 10: 3,982,345 (GRCm39) probably benign Het
Mthfd1l T C 10: 3,928,708 (GRCm39) V100A probably benign Het
Mthfd1l T C 10: 3,957,800 (GRCm39) V279A probably benign Het
Mtrf1l A G 10: 5,764,180 (GRCm39) probably benign Het
Myo18b T C 5: 112,957,613 (GRCm39) E1450G probably damaging Het
Obscn C T 11: 59,018,895 (GRCm39) V973M probably damaging Het
Oprm1 T C 10: 6,987,170 (GRCm39) probably benign Het
Or6p1 G A 1: 174,258,908 (GRCm39) V305I probably benign Het
Pou5f2 A G 13: 78,174,057 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,252,113 (GRCm39) H891Y probably benign Het
Ralgapa2 T G 2: 146,252,112 (GRCm39) H806P probably benign Het
Rmnd1 A G 10: 4,377,392 (GRCm39) W96R probably benign Het
Rmnd1 A T 10: 4,377,290 (GRCm39) S130T probably benign Het
Spata31e2 T C 1: 26,721,991 (GRCm39) E1063G probably damaging Het
Speer4a3 G T 5: 26,155,721 (GRCm39) H208N probably benign Het
Trappc12 A C 12: 28,741,853 (GRCm39) probably benign Het
Ulbp3 G A 10: 3,075,031 (GRCm39) noncoding transcript Het
Ulbp3 C T 10: 3,075,193 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,070,231 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,070,209 (GRCm39) noncoding transcript Het
Vip A G 10: 5,592,480 (GRCm39) D40G probably benign Het
Vmn2r125 C A 4: 156,703,194 (GRCm39) Q191K probably benign Het
Vmn2r125 A C 4: 156,703,195 (GRCm39) Q191P probably benign Het
Vmn2r125 A T 4: 156,703,332 (GRCm39) T237S probably benign Het
Vmn2r125 A G 4: 156,703,140 (GRCm39) N173D probably damaging Het
Vmn2r125 T C 4: 156,702,907 (GRCm39) probably benign Het
Vmn2r125 T A 4: 156,703,521 (GRCm39) L300M probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r129 C A 4: 156,690,730 (GRCm39) noncoding transcript Het
Vmn2r129 A T 4: 156,690,441 (GRCm39) noncoding transcript Het
Vmn2r129 G A 4: 156,686,900 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,687,885 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,686,558 (GRCm39) noncoding transcript Het
Vmn2r40 G A 7: 8,911,175 (GRCm39) S706F probably damaging Het
Zfp14 T A 7: 29,737,526 (GRCm39) R486S probably damaging Het
Other mutations in Ipcef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Ipcef1 APN 10 6,840,551 (GRCm39) missense probably benign
IGL01295:Ipcef1 APN 10 6,850,642 (GRCm39) missense probably damaging 1.00
IGL01738:Ipcef1 APN 10 6,840,575 (GRCm39) missense probably damaging 1.00
IGL03095:Ipcef1 APN 10 6,869,732 (GRCm39) missense probably damaging 1.00
R0001:Ipcef1 UTSW 10 6,850,600 (GRCm39) missense probably damaging 0.99
R0206:Ipcef1 UTSW 10 6,870,062 (GRCm39) missense probably damaging 1.00
R0208:Ipcef1 UTSW 10 6,870,062 (GRCm39) missense probably damaging 1.00
R1161:Ipcef1 UTSW 10 6,930,288 (GRCm39) critical splice acceptor site probably null
R1496:Ipcef1 UTSW 10 6,885,173 (GRCm39) critical splice donor site probably null
R1592:Ipcef1 UTSW 10 6,885,182 (GRCm39) splice site probably null
R1829:Ipcef1 UTSW 10 6,869,900 (GRCm39) missense probably benign 0.27
R1893:Ipcef1 UTSW 10 6,850,680 (GRCm39) missense probably damaging 1.00
R2107:Ipcef1 UTSW 10 6,840,501 (GRCm39) missense probably benign 0.01
R2160:Ipcef1 UTSW 10 6,840,650 (GRCm39) missense probably damaging 1.00
R2413:Ipcef1 UTSW 10 6,885,225 (GRCm39) missense probably damaging 1.00
R2655:Ipcef1 UTSW 10 6,929,657 (GRCm39) missense probably benign 0.02
R2886:Ipcef1 UTSW 10 6,850,641 (GRCm39) missense probably damaging 1.00
R4752:Ipcef1 UTSW 10 6,929,573 (GRCm39) missense probably damaging 1.00
R5134:Ipcef1 UTSW 10 6,869,950 (GRCm39) missense probably benign 0.03
R5800:Ipcef1 UTSW 10 6,840,569 (GRCm39) missense probably damaging 1.00
R5938:Ipcef1 UTSW 10 6,858,029 (GRCm39) unclassified probably benign
R5989:Ipcef1 UTSW 10 6,929,532 (GRCm39) nonsense probably null
R7397:Ipcef1 UTSW 10 6,922,244 (GRCm39) makesense probably null
R7414:Ipcef1 UTSW 10 6,840,673 (GRCm39) nonsense probably null
R7425:Ipcef1 UTSW 10 6,906,066 (GRCm39) missense probably damaging 1.00
R7859:Ipcef1 UTSW 10 6,840,569 (GRCm39) missense probably damaging 1.00
R7966:Ipcef1 UTSW 10 6,850,668 (GRCm39) missense probably damaging 1.00
R8255:Ipcef1 UTSW 10 6,870,007 (GRCm39) missense probably benign 0.10
R8964:Ipcef1 UTSW 10 6,869,789 (GRCm39) missense possibly damaging 0.60
R9276:Ipcef1 UTSW 10 6,857,936 (GRCm39) unclassified probably benign
R9280:Ipcef1 UTSW 10 6,850,736 (GRCm39) missense probably benign 0.42
R9359:Ipcef1 UTSW 10 6,840,663 (GRCm39) missense probably damaging 1.00
R9407:Ipcef1 UTSW 10 6,870,036 (GRCm39) nonsense probably null
R9526:Ipcef1 UTSW 10 6,840,620 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-28