Incidental Mutation 'IGL02437:BC004004'
ID293302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC004004
Ensembl Gene ENSMUSG00000052712
Gene NamecDNA sequence BC004004
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02437
Quality Score
Status
Chromosome17
Chromosomal Location29268788-29302881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29298697 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 295 (L295P)
Ref Sequence ENSEMBL: ENSMUSP00000117309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064709] [ENSMUST00000120346] [ENSMUST00000149405]
Predicted Effect probably damaging
Transcript: ENSMUST00000064709
AA Change: L295P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066224
Gene: ENSMUSG00000052712
AA Change: L295P

DomainStartEndE-ValueType
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 222 236 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120346
AA Change: L295P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113315
Gene: ENSMUSG00000052712
AA Change: L295P

DomainStartEndE-ValueType
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 222 236 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000149405
AA Change: L295P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117309
Gene: ENSMUSG00000052712
AA Change: L295P

DomainStartEndE-ValueType
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 222 236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150874
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging Het
Other mutations in BC004004
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:BC004004 APN 17 29282251 missense probably damaging 1.00
IGL01454:BC004004 APN 17 29294021 missense possibly damaging 0.76
R0677:BC004004 UTSW 17 29298664 missense probably damaging 1.00
R1440:BC004004 UTSW 17 29296691 critical splice donor site probably null
R3744:BC004004 UTSW 17 29301449 makesense probably null
R4017:BC004004 UTSW 17 29298732 missense probably damaging 0.98
R4417:BC004004 UTSW 17 29282275 splice site probably benign
R4883:BC004004 UTSW 17 29282192 missense probably damaging 1.00
R5071:BC004004 UTSW 17 29294415 critical splice donor site probably null
R5619:BC004004 UTSW 17 29282729 missense probably damaging 1.00
R5768:BC004004 UTSW 17 29282735 missense probably damaging 1.00
R5846:BC004004 UTSW 17 29282308 intron probably benign
R6259:BC004004 UTSW 17 29298712 missense possibly damaging 0.87
Posted On2015-04-16