Incidental Mutation 'IGL02902:BC003331'
ID363675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC003331
Ensembl Gene ENSMUSG00000006010
Gene NamecDNA sequence BC003331
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.601) question?
Stock #IGL02902
Quality Score
Status
Chromosome1
Chromosomal Location150361305-150393080 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 150384428 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006167] [ENSMUST00000094477] [ENSMUST00000097546] [ENSMUST00000097547] [ENSMUST00000111913]
Predicted Effect probably null
Transcript: ENSMUST00000006167
SMART Domains Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010

DomainStartEndE-ValueType
Pfam:ODR4-like 28 364 1.8e-107 PFAM
transmembrane domain 402 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094477
SMART Domains Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010

DomainStartEndE-ValueType
Pfam:ODR4-like 28 383 2.8e-120 PFAM
transmembrane domain 424 446 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097546
SMART Domains Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010

DomainStartEndE-ValueType
Pfam:ODR4-like 28 364 1.8e-107 PFAM
transmembrane domain 402 424 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097547
SMART Domains Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010

DomainStartEndE-ValueType
Pfam:ODR4-like 28 209 1.2e-57 PFAM
Pfam:ODR4-like 206 354 3.1e-43 PFAM
transmembrane domain 392 414 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111913
SMART Domains Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010

DomainStartEndE-ValueType
Pfam:ODR4-like 28 386 7.1e-113 PFAM
transmembrane domain 424 446 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150615
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 86,046,365 V135F possibly damaging Het
Aatk T C 11: 120,011,777 T541A probably benign Het
Abcc1 T C 16: 14,423,127 L516P probably damaging Het
Actl6a T A 3: 32,722,642 V350E possibly damaging Het
Afm A G 5: 90,526,363 K245E possibly damaging Het
Agr3 T C 12: 35,946,916 V63A probably damaging Het
Arhgef28 A T 13: 97,946,875 M1162K probably damaging Het
Casq2 T A 3: 102,086,797 C53* probably null Het
Ccdc181 T C 1: 164,279,901 V51A probably benign Het
Cd101 A G 3: 101,018,994 probably benign Het
Csdc2 T C 15: 81,948,600 V69A probably benign Het
Cyp2c23 A T 19: 44,021,558 probably benign Het
Dnph1 A G 17: 46,498,501 probably benign Het
Egf T C 3: 129,681,147 T1124A probably benign Het
Gm13089 A G 4: 143,698,343 C177R probably damaging Het
Gpr45 A G 1: 43,033,211 E338G possibly damaging Het
Grb14 A C 2: 64,938,418 L98R probably damaging Het
Gucy1a1 T C 3: 82,118,917 S77G possibly damaging Het
Helb A G 10: 120,089,485 S996P probably benign Het
Huwe1 A G X: 151,886,766 E1405G probably damaging Het
Ifi47 T C 11: 49,095,790 I128T probably benign Het
Ift140 T A 17: 25,090,762 Y1089N probably damaging Het
Il1r1 A T 1: 40,302,409 H324L probably benign Het
Irx1 C T 13: 71,959,855 R236H probably benign Het
Itpr3 T C 17: 27,104,556 V1185A probably benign Het
Kif19a T C 11: 114,785,570 V450A possibly damaging Het
Krtap21-1 G T 16: 89,403,558 Y65* probably null Het
Ltn1 A T 16: 87,379,805 N1704K possibly damaging Het
Med1 T C 11: 98,156,509 probably benign Het
Meis2 T A 2: 116,063,323 H36L probably damaging Het
Mier2 T C 10: 79,549,622 N124S probably damaging Het
Mmp20 A G 9: 7,654,170 probably null Het
Muc4 A G 16: 32,750,394 T91A possibly damaging Het
Myo3b T A 2: 70,289,401 V935E probably benign Het
Ndufa7 T C 17: 33,829,658 probably benign Het
Nipal1 A G 5: 72,668,062 E366G possibly damaging Het
Nobox A T 6: 43,305,683 N263K probably benign Het
Notch2 A G 3: 98,111,574 D684G probably damaging Het
Olfr1136 T C 2: 87,693,000 N294S probably damaging Het
Olfr1255 T A 2: 89,817,164 Y273* probably null Het
Olfr303 T C 7: 86,394,535 probably benign Het
Olfr31 A G 14: 14,328,789 H226R probably benign Het
Olfr494 C A 7: 108,368,129 T213K probably damaging Het
Plau A C 14: 20,839,897 D270A possibly damaging Het
Pof1b T C X: 112,649,112 probably null Het
Prtn3 A T 10: 79,881,933 probably null Het
Ptges3 T A 10: 128,068,747 D26E probably benign Het
Pxmp2 T C 5: 110,281,294 E99G probably benign Het
Rasgef1a A G 6: 118,083,107 R106G probably benign Het
Rnf208 T C 2: 25,243,762 V156A probably benign Het
Rps6ka1 A T 4: 133,871,981 I45N possibly damaging Het
Rps6ka4 C T 19: 6,832,255 probably null Het
Rsbn1 G T 3: 103,953,656 C466F possibly damaging Het
Shkbp1 A T 7: 27,342,716 C605S probably damaging Het
Slc2a10 G A 2: 165,518,222 D531N probably benign Het
Sox13 A G 1: 133,389,466 L143P probably damaging Het
Stx2 C T 5: 128,992,221 R142Q probably damaging Het
Tanc1 T A 2: 59,793,087 probably benign Het
Ttc26 A C 6: 38,425,162 S530R probably benign Het
Tubgcp5 C T 7: 55,806,607 Q316* probably null Het
Ubc A G 5: 125,386,229 V678A probably benign Het
Unc5d G A 8: 28,875,606 T117I probably damaging Het
Vmn2r4 T C 3: 64,406,916 I126V probably benign Het
Zfp410 T A 12: 84,331,820 probably null Het
Other mutations in BC003331
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:BC003331 APN 1 150382338 missense probably benign 0.10
IGL02189:BC003331 APN 1 150372033 missense possibly damaging 0.94
IGL02257:BC003331 APN 1 150386404 missense probably damaging 0.99
IGL02485:BC003331 APN 1 150363489 critical splice donor site probably null
IGL02585:BC003331 APN 1 150363521 missense probably damaging 0.96
IGL02712:BC003331 APN 1 150386356 critical splice donor site probably null
IGL03014:BC003331 APN 1 150383053 splice site probably benign
IGL03124:BC003331 APN 1 150386425 missense probably benign 0.00
IGL03181:BC003331 APN 1 150363539 missense probably benign 0.06
IGL03344:BC003331 APN 1 150363544 missense probably damaging 0.99
R1170:BC003331 UTSW 1 150386391 missense probably benign 0.00
R1796:BC003331 UTSW 1 150375554 missense probably benign
R1902:BC003331 UTSW 1 150388609 unclassified probably null
R2149:BC003331 UTSW 1 150388559 missense probably benign 0.05
R2155:BC003331 UTSW 1 150382335 missense possibly damaging 0.68
R2375:BC003331 UTSW 1 150390234 critical splice donor site probably null
R3786:BC003331 UTSW 1 150384531 missense probably benign 0.21
R3948:BC003331 UTSW 1 150388557 nonsense probably null
R4589:BC003331 UTSW 1 150384487 missense probably benign 0.11
R4590:BC003331 UTSW 1 150386352 splice site probably null
R4815:BC003331 UTSW 1 150374846 missense probably damaging 0.99
R5196:BC003331 UTSW 1 150382389 missense probably damaging 1.00
R5437:BC003331 UTSW 1 150363518 missense probably benign 0.01
R5549:BC003331 UTSW 1 150372158 missense possibly damaging 0.86
R5677:BC003331 UTSW 1 150374837 missense probably damaging 1.00
R5896:BC003331 UTSW 1 150380360 missense probably benign 0.10
R6472:BC003331 UTSW 1 150381522 missense probably benign 0.15
R7108:BC003331 UTSW 1 150382290 missense probably benign 0.01
R7402:BC003331 UTSW 1 150386356 critical splice donor site probably null
R7662:BC003331 UTSW 1 150382294 missense probably benign
R7767:BC003331 UTSW 1 150372037 missense probably benign 0.00
R7810:BC003331 UTSW 1 150392908 utr 5 prime probably benign
Posted On2015-12-18