Incidental Mutation 'IGL02445:Hepacam2'
ID 293554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hepacam2
Ensembl Gene ENSMUSG00000044156
Gene Name HEPACAM family member 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # IGL02445
Quality Score
Status
Chromosome 6
Chromosomal Location 3457202-3498319 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3483481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 100 (G100D)
Ref Sequence ENSEMBL: ENSMUSP00000143834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049985] [ENSMUST00000200854] [ENSMUST00000201607]
AlphaFold Q4VAH7
Predicted Effect probably damaging
Transcript: ENSMUST00000049985
AA Change: G176D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: G176D

DomainStartEndE-ValueType
IG 39 142 7.77e-1 SMART
IGc2 165 227 6.21e-9 SMART
IG 256 334 1.87e0 SMART
transmembrane domain 351 373 N/A INTRINSIC
low complexity region 420 437 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200854
AA Change: G100D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144362
Gene: ENSMUSG00000044156
AA Change: G100D

DomainStartEndE-ValueType
IG_like 2 66 2.88e1 SMART
IGc2 89 151 6.21e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201276
Predicted Effect probably damaging
Transcript: ENSMUST00000201607
AA Change: G100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156
AA Change: G100D

DomainStartEndE-ValueType
IG_like 2 66 1.2e-1 SMART
IGc2 89 151 2.5e-11 SMART
Blast:IG 180 206 9e-11 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,383,198 (GRCm39) T2127M probably damaging Het
Acp2 A G 2: 91,036,606 (GRCm39) D175G possibly damaging Het
Adamts12 T C 15: 11,286,798 (GRCm39) L801P probably damaging Het
Adcy10 T G 1: 165,398,313 (GRCm39) V1470G possibly damaging Het
Ankar T G 1: 72,705,524 (GRCm39) K829Q probably benign Het
Arhgef10l T C 4: 140,274,318 (GRCm39) Y531C probably benign Het
Atm T C 9: 53,365,630 (GRCm39) I2590V probably benign Het
Brme1 T A 8: 84,886,137 (GRCm39) M31K probably benign Het
Cblb T C 16: 51,986,668 (GRCm39) L485P probably damaging Het
Col4a1 T C 8: 11,283,911 (GRCm39) probably benign Het
Coprs T C 8: 13,935,797 (GRCm39) K74R possibly damaging Het
Cul3 A T 1: 80,281,886 (GRCm39) L31M possibly damaging Het
Cyp3a59 C A 5: 146,033,463 (GRCm39) Q200K probably benign Het
Ddx19b C A 8: 111,735,456 (GRCm39) V402L probably damaging Het
Disc1 T A 8: 125,875,142 (GRCm39) probably benign Het
Dsg4 C T 18: 20,579,307 (GRCm39) probably benign Het
Dspp A C 5: 104,324,963 (GRCm39) Y442S probably damaging Het
Dtl C T 1: 191,290,172 (GRCm39) probably null Het
Ezh1 A C 11: 101,101,513 (GRCm39) V175G possibly damaging Het
Herc1 T A 9: 66,340,764 (GRCm39) H1704Q possibly damaging Het
Itprid2 G A 2: 79,487,842 (GRCm39) E642K probably damaging Het
Kif26a T C 12: 112,140,177 (GRCm39) S469P probably damaging Het
Lefty1 T C 1: 180,765,242 (GRCm39) M270T probably benign Het
Nap1l3 A T X: 121,305,752 (GRCm39) V322D probably damaging Het
Ndufv2 A G 17: 66,387,889 (GRCm39) probably benign Het
Or14j5 A T 17: 38,162,008 (GRCm39) H175L probably damaging Het
Or4p18 G A 2: 88,232,456 (GRCm39) T274I possibly damaging Het
Or8b55 T C 9: 38,726,901 (GRCm39) I34T possibly damaging Het
Otol1 A T 3: 69,935,367 (GRCm39) D453V probably damaging Het
Papolb G A 5: 142,514,480 (GRCm39) H388Y probably benign Het
Ppp1r10 A G 17: 36,237,094 (GRCm39) E128G probably damaging Het
Prss12 T A 3: 123,280,669 (GRCm39) D451E probably damaging Het
Psmc1 T C 12: 100,081,087 (GRCm39) probably benign Het
Pygo1 T A 9: 72,833,222 (GRCm39) I10N probably benign Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Ret G A 6: 118,158,860 (GRCm39) T184I probably damaging Het
Rhd A T 4: 134,611,481 (GRCm39) M214L possibly damaging Het
Ripor3 C A 2: 167,834,682 (GRCm39) probably benign Het
Sec16a A G 2: 26,312,052 (GRCm39) L2036P probably benign Het
Slc26a3 C A 12: 31,507,051 (GRCm39) D335E possibly damaging Het
Taf6 A G 5: 138,182,756 (GRCm39) probably benign Het
Tnk2 T C 16: 32,494,408 (GRCm39) V442A probably benign Het
Virma A G 4: 11,527,029 (GRCm39) M1143V probably damaging Het
Vmn2r77 A T 7: 86,452,848 (GRCm39) R522* probably null Het
Vmn2r-ps129 A G 17: 23,227,393 (GRCm39) noncoding transcript Het
Zfp473 A G 7: 44,383,107 (GRCm39) C408R probably damaging Het
Other mutations in Hepacam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Hepacam2 APN 6 3,487,117 (GRCm39) missense probably benign 0.07
IGL01945:Hepacam2 APN 6 3,487,117 (GRCm39) missense probably benign 0.07
IGL02254:Hepacam2 APN 6 3,483,421 (GRCm39) missense probably benign 0.06
IGL02546:Hepacam2 APN 6 3,483,568 (GRCm39) missense possibly damaging 0.93
IGL02620:Hepacam2 APN 6 3,487,280 (GRCm39) splice site probably benign
IGL02697:Hepacam2 APN 6 3,476,036 (GRCm39) missense possibly damaging 0.79
R0089:Hepacam2 UTSW 6 3,487,094 (GRCm39) missense probably damaging 0.96
R0208:Hepacam2 UTSW 6 3,467,505 (GRCm39) splice site probably benign
R0230:Hepacam2 UTSW 6 3,463,336 (GRCm39) missense probably benign 0.01
R0299:Hepacam2 UTSW 6 3,476,121 (GRCm39) missense probably damaging 1.00
R0499:Hepacam2 UTSW 6 3,476,121 (GRCm39) missense probably damaging 1.00
R0608:Hepacam2 UTSW 6 3,483,479 (GRCm39) missense possibly damaging 0.93
R1350:Hepacam2 UTSW 6 3,467,530 (GRCm39) nonsense probably null
R1663:Hepacam2 UTSW 6 3,483,439 (GRCm39) missense possibly damaging 0.76
R1749:Hepacam2 UTSW 6 3,483,379 (GRCm39) missense probably damaging 1.00
R1997:Hepacam2 UTSW 6 3,487,241 (GRCm39) missense probably damaging 1.00
R2146:Hepacam2 UTSW 6 3,463,378 (GRCm39) splice site probably benign
R3911:Hepacam2 UTSW 6 3,494,477 (GRCm39) start codon destroyed probably null 0.98
R4281:Hepacam2 UTSW 6 3,475,938 (GRCm39) missense probably damaging 0.98
R4290:Hepacam2 UTSW 6 3,487,237 (GRCm39) missense probably benign 0.01
R4371:Hepacam2 UTSW 6 3,486,988 (GRCm39) missense probably damaging 1.00
R4794:Hepacam2 UTSW 6 3,475,933 (GRCm39) missense probably damaging 0.96
R4890:Hepacam2 UTSW 6 3,487,231 (GRCm39) missense probably damaging 0.96
R5330:Hepacam2 UTSW 6 3,483,377 (GRCm39) missense probably benign 0.00
R5331:Hepacam2 UTSW 6 3,483,377 (GRCm39) missense probably benign 0.00
R5677:Hepacam2 UTSW 6 3,466,142 (GRCm39) missense probably damaging 1.00
R5796:Hepacam2 UTSW 6 3,466,200 (GRCm39) splice site probably null
R5844:Hepacam2 UTSW 6 3,476,073 (GRCm39) missense probably damaging 0.99
R5979:Hepacam2 UTSW 6 3,476,149 (GRCm39) missense probably damaging 1.00
R6017:Hepacam2 UTSW 6 3,483,332 (GRCm39) missense probably damaging 1.00
R7460:Hepacam2 UTSW 6 3,487,199 (GRCm39) missense probably benign 0.20
R8458:Hepacam2 UTSW 6 3,483,358 (GRCm39) missense probably damaging 1.00
R8928:Hepacam2 UTSW 6 3,467,623 (GRCm39) critical splice donor site probably null
R9525:Hepacam2 UTSW 6 3,476,046 (GRCm39) missense probably benign 0.33
R9762:Hepacam2 UTSW 6 3,486,940 (GRCm39) missense probably damaging 1.00
Z1177:Hepacam2 UTSW 6 3,483,352 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16