Incidental Mutation 'IGL02207:Col4a3bp'
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 #IGL02207
Quality Score
Chromosomal Location96542618-96640167 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 96624792 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000179226]
Predicted Effect probably null
Transcript: ENSMUST00000077672
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669

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 null
Transcript: ENSMUST00000109444
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669

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 null
Transcript: ENSMUST00000179226
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110034G24Rik A T 2: 132,691,946 probably benign Het
Adamtsl2 A G 2: 27,102,981 E702G probably damaging Het
Adgre5 T C 8: 83,728,284 T260A probably damaging Het
Agap3 A T 5: 24,499,936 T660S probably benign Het
Amotl2 A T 9: 102,724,697 E380V probably damaging Het
Ap4e1 A G 2: 127,011,816 E58G probably damaging Het
Arap3 G A 18: 37,987,853 A713V probably benign Het
B4galt2 T C 4: 117,881,521 D33G probably damaging Het
Bbs7 A T 3: 36,604,490 S212T probably benign Het
Ccl26 A G 5: 135,563,370 Y38H probably benign Het
Ccne2 A T 4: 11,202,261 S339C probably benign Het
Cd55 A G 1: 130,452,419 V274A possibly damaging Het
Cenpw T G 10: 30,198,581 probably null Het
Chrnb4 T C 9: 55,035,216 D258G probably damaging Het
Commd3 T C 2: 18,674,008 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b23 C A 7: 26,681,755 R59L probably damaging Het
Edar G T 10: 58,610,521 T194K probably damaging Het
Edem3 A G 1: 151,808,360 I733V possibly damaging Het
Elmod2 T C 8: 83,321,506 Y109C probably benign Het
Eps15 C T 4: 109,304,748 probably benign Het
Fat4 T C 3: 38,951,263 V1937A probably benign Het
Fdx1l T A 9: 21,068,119 probably null Het
Flg2 A T 3: 93,220,128 I2116F unknown Het
Gm15091 A G X: 149,977,466 D424G possibly damaging Het
Gm16380 T A 9: 53,884,539 noncoding transcript Het
Gm6614 A T 6: 141,990,432 I309N possibly damaging Het
Gpn2 G A 4: 133,584,636 V60M possibly damaging Het
Grip1 G A 10: 120,075,309 R1044K probably damaging Het
H2-D1 T A 17: 35,263,414 S37T possibly damaging Het
Havcr1 C T 11: 46,778,576 A294V probably benign Het
Herc4 G A 10: 63,299,244 probably null Het
Ift140 A G 17: 25,055,598 Y748C probably benign Het
Il20ra A G 10: 19,751,578 T242A probably damaging Het
Ilvbl G A 10: 78,583,702 probably null Het
Kif18a A T 2: 109,296,707 I329L probably damaging Het
Kmt2a T A 9: 44,847,682 I957F probably damaging Het
Krt1 A G 15: 101,848,616 I282T possibly damaging Het
Lamb1 T G 12: 31,329,435 V1768G probably damaging Het
Nek9 A T 12: 85,303,483 L939* probably null Het
Nfe2l2 A G 2: 75,678,525 L122P probably damaging Het
Nin T C 12: 70,056,657 M270V probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nrde2 T C 12: 100,130,931 Y870C probably benign Het
Nsmce2 A G 15: 59,416,078 M71V probably benign Het
Ocstamp T C 2: 165,397,663 H201R possibly damaging Het
Olfr1126 A G 2: 87,457,450 D95G probably benign Het
Olfr744 G A 14: 50,618,558 G112D probably damaging Het
Oog4 T C 4: 143,438,940 I212M probably benign Het
Osmr T C 15: 6,847,147 T99A probably benign Het
Pdia4 A T 6: 47,796,807 M536K probably benign Het
Pdyn A T 2: 129,688,518 L77H probably damaging Het
Pikfyve T C 1: 65,251,678 probably null Het
Plcb1 A G 2: 135,387,171 E1105G probably damaging Het
Rb1 A T 14: 73,206,085 D743E probably damaging Het
Rdh14 G A 12: 10,394,712 V188I possibly damaging Het
Scd3 T C 19: 44,215,589 V72A possibly damaging Het
Slc25a27 G A 17: 43,661,684 R104W probably damaging Het
Slc29a4 A G 5: 142,718,885 D394G possibly damaging Het
Snx29 T G 16: 11,738,352 M407R probably damaging Het
Syf2 A G 4: 134,935,052 probably null Het
Syn1 T C X: 20,865,137 Q321R probably benign Het
Tbc1d12 A T 19: 38,916,647 D602V probably damaging Het
Tenm4 A T 7: 96,874,116 I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 probably benign Het
Trav6-2 G A 14: 52,667,432 V8M possibly damaging Het
Unc119b A G 5: 115,134,754 S53P probably benign Het
Vmp1 T A 11: 86,607,193 I299F possibly damaging Het
Xpot T C 10: 121,613,580 Y194C probably damaging Het
Zbtb10 T A 3: 9,280,465 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
IGL02285:Col4a3bp APN 13 96616482 missense probably benign 0.10
IGL02425:Col4a3bp APN 13 96609882 missense probably damaging 1.00
IGL02749:Col4a3bp APN 13 96629135 missense possibly damaging 0.60
IGL03288:Col4a3bp APN 13 96634192 missense probably benign 0.00
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
Posted On2015-04-16