Incidental Mutation 'IGL02749:Col4a3bp'
ID306195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col4a3bp
Ensembl Gene ENSMUSG00000021669
Gene Namecollagen, type IV, alpha 3 (Goodpasture antigen) binding protein
SynonymsGPBP, 2810404O15Rik, Cert, ceramide transport protein, 9230101K08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02749
Quality Score
Status
Chromosome13
Chromosomal Location96542618-96640167 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 96629135 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 469 (N469K)
Ref Sequence ENSEMBL: ENSMUSP00000076856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000179226]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077672
AA Change: N469K

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: N469K

DomainStartEndE-ValueType
PH 24 119 4.52e-21 SMART
low complexity region 138 150 N/A INTRINSIC
coiled coil region 273 301 N/A INTRINSIC
START 398 619 1.15e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109444
AA Change: N443K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: N443K

DomainStartEndE-ValueType
PH 24 119 4.52e-21 SMART
low complexity region 138 150 N/A INTRINSIC
coiled coil region 273 301 N/A INTRINSIC
START 372 593 1.15e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179226
AA Change: N443K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: N443K

DomainStartEndE-ValueType
PH 24 119 4.52e-21 SMART
low complexity region 138 150 N/A INTRINSIC
coiled coil region 273 301 N/A INTRINSIC
START 372 593 1.15e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223471
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 kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Col4a3bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Col4a3bp APN 13 96614802 missense probably damaging 0.99
IGL02121:Col4a3bp APN 13 96599474 missense probably benign 0.45
IGL02207:Col4a3bp APN 13 96624792 critical splice donor site probably null
IGL02285:Col4a3bp APN 13 96616482 missense probably benign 0.10
IGL02425:Col4a3bp APN 13 96609882 missense probably damaging 1.00
IGL03288:Col4a3bp APN 13 96634192 missense probably benign 0.00
PIT4508001:Col4a3bp UTSW 13 96630776 missense probably damaging 1.00
R0197:Col4a3bp UTSW 13 96549287 missense probably benign 0.05
R0317:Col4a3bp UTSW 13 96634121 nonsense probably null
R2103:Col4a3bp UTSW 13 96634886 missense probably damaging 1.00
R2104:Col4a3bp UTSW 13 96634886 missense probably damaging 1.00
R4664:Col4a3bp UTSW 13 96599457 missense probably benign 0.01
R4782:Col4a3bp UTSW 13 96612265 missense probably benign
R4824:Col4a3bp UTSW 13 96616487 missense probably benign
R5060:Col4a3bp UTSW 13 96603155 missense probably benign 0.37
R5131:Col4a3bp UTSW 13 96614835 missense probably damaging 1.00
R5385:Col4a3bp UTSW 13 96629067 missense possibly damaging 0.94
R5503:Col4a3bp UTSW 13 96543239 missense possibly damaging 0.61
R6034:Col4a3bp UTSW 13 96609800 missense probably benign 0.06
R6034:Col4a3bp UTSW 13 96609800 missense probably benign 0.06
R7193:Col4a3bp UTSW 13 96630833 critical splice donor site probably null
R7819:Col4a3bp UTSW 13 96629067 missense possibly damaging 0.74
R7827:Col4a3bp UTSW 13 96617055 missense probably damaging 1.00
R8147:Col4a3bp UTSW 13 96543228 missense probably benign
R8228:Col4a3bp UTSW 13 96543215 missense probably benign 0.08
Posted On2015-04-16