Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02207:Col4a3bp'

284566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col4a3bp

Ensembl Gene

ENSMUSG00000021669

Gene Name

collagen, type IV, alpha 3 (Goodpasture antigen) binding protein

Synonyms

GPBP, 2810404O15Rik, Cert, ceramide transport protein, 9230101K08Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

96542618-96640167 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 96624792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077672] [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000109444] [ENSMUST00000179226] [ENSMUST00000179226]

AlphaFold

Q9EQG9

Predicted Effect

probably null
Transcript: ENSMUST00000077672

SMART Domains

Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669

Domain	Start	End	E-Value	Type
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: ENSMUST00000077672

SMART Domains

Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000109444

SMART Domains

Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8486:Col4a3bp	UTSW	13	96634182	missense	probably damaging	0.99
R9039:Col4a3bp	UTSW	13	96543209	missense	probably benign	0.02
R9141:Col4a3bp	UTSW	13	96617060	missense	probably damaging	0.97

Posted On

2015-04-16