Mutagenetix > Incidental Mutation

Incidental Mutation 'R5503:Col4a3bp'

430768

Institutional Source

Beutler Lab

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

MMRRC Submission

043064-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5503 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

96542618-96640167 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96543239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 26 (R26C)

Ref Sequence

ENSEMBL: ENSMUSP00000136766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000179226] [ENSMUST00000223475]

AlphaFold

Q9EQG9

Predicted Effect

probably benign
Transcript: ENSMUST00000022172

SMART Domains

Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668

Domain	Start	End	E-Value	Type
Pfam:IMS	105	324	1.7e-47	PFAM
Pfam:IMS_C	406	525	5.5e-22	PFAM
PDB:2LSJ\|B	559	582	9e-8	PDB
ZnF_Rad18	619	645	2.89e-9	SMART
ZnF_Rad18	761	787	2.31e-8	SMART
low complexity region	828	839	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077672
AA Change: R26C

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: R26C

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

possibly damaging
Transcript: ENSMUST00000109444
AA Change: R26C

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: R26C

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

possibly damaging
Transcript: ENSMUST00000179226
AA Change: R26C

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: R26C

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: ENSMUST00000220464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222434

Predicted Effect

probably benign
Transcript: ENSMUST00000223475

Meta Mutation Damage Score

0.4301

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
Abca6	A	G	11: 110,218,257 (GRCm38)	S696P	probably damaging	Het
Abca9	G	A	11: 110,141,610 (GRCm38)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,306,241 (GRCm38)	R1161G	probably benign	Het
Amy1	T	C	3: 113,556,060 (GRCm38)	D487G	probably benign	Het
Arap2	G	A	5: 62,630,186 (GRCm38)	A1409V	probably damaging	Het
B020004J07Rik	A	T	4: 101,835,802 (GRCm38)	Y334N	probably benign	Het
B4galt6	C	A	18: 20,745,352 (GRCm38)		probably null	Het
Cacna1s	G	A	1: 136,086,742 (GRCm38)	G382D	probably damaging	Het
Camk2a	A	G	18: 60,978,000 (GRCm38)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,534 (GRCm38)	Y492C	probably damaging	Het
Col18a1	C	T	10: 77,071,620 (GRCm38)	G861D	probably damaging	Het
Crybg1	C	A	10: 43,998,766 (GRCm38)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,461,473 (GRCm38)	L27F	probably damaging	Het
Dab1	T	A	4: 104,512,264 (GRCm38)	C3S	probably benign	Het
Dapk1	T	C	13: 60,725,312 (GRCm38)	F343L	probably benign	Het
Dgat1	A	T	15: 76,502,194 (GRCm38)		probably benign	Het
Dnah11	C	A	12: 117,880,451 (GRCm38)		probably null	Het
Dsg2	T	A	18: 20,580,651 (GRCm38)	Y226*	probably null	Het
Epg5	T	A	18: 77,951,207 (GRCm38)	M351K	possibly damaging	Het
F13b	A	G	1: 139,522,543 (GRCm38)	T648A	probably benign	Het
Fgf17	T	C	14: 70,636,968 (GRCm38)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,327,887 (GRCm38)	P435S	probably benign	Het
Gfm1	G	A	3: 67,453,727 (GRCm38)		probably null	Het
Gigyf1	T	C	5: 137,523,467 (GRCm38)		probably benign	Het
Gm12830	A	T	4: 114,821,739 (GRCm38)	T6S	unknown	Het
Gm6465	A	T	5: 11,848,183 (GRCm38)	N88I	probably damaging	Het
Gpr18	C	T	14: 121,911,747 (GRCm38)	V289I	probably damaging	Het
Ipp	G	T	4: 116,537,938 (GRCm38)	E557*	probably null	Het
Klhl12	T	A	1: 134,485,915 (GRCm38)		probably null	Het
Klhl38	A	G	15: 58,322,349 (GRCm38)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,931,889 (GRCm38)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,819,876 (GRCm38)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,573,976 (GRCm38)	K118E	probably benign	Het
Marf1	A	C	16: 14,152,231 (GRCm38)	L208R	probably damaging	Het
Misp	G	A	10: 79,826,718 (GRCm38)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,395,327 (GRCm38)	M133K	probably damaging	Het
Mon2	A	T	10: 123,032,645 (GRCm38)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,173,449 (GRCm38)	I77V	probably benign	Het
Napa	C	A	7: 16,115,624 (GRCm38)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,425,622 (GRCm38)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,985,650 (GRCm38)	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,906,368 (GRCm38)	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,715,629 (GRCm38)	P94L	probably benign	Het
Notch3	A	T	17: 32,147,055 (GRCm38)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,245,939 (GRCm38)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,433,057 (GRCm38)	D143G	probably benign	Het
Olfr1415	C	A	1: 92,491,196 (GRCm38)	K186N	probably benign	Het
Olfr27	A	G	9: 39,144,484 (GRCm38)	N128S	probably benign	Het
Olfr316	T	A	11: 58,758,328 (GRCm38)	V221E	probably damaging	Het
Olfr45	A	C	7: 140,691,396 (GRCm38)	M164L	probably benign	Het
Olfr77	A	G	9: 19,920,379 (GRCm38)	T57A	probably benign	Het
Olfr912	T	C	9: 38,582,072 (GRCm38)	V265A	probably benign	Het
Oplah	A	G	15: 76,305,446 (GRCm38)		probably null	Het
Phb2	T	A	6: 124,713,022 (GRCm38)		probably benign	Het
Plcl2	A	G	17: 50,509,929 (GRCm38)	I108V	probably benign	Het
Plpp6	T	A	19: 28,964,746 (GRCm38)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,138,156 (GRCm38)	G189E	probably damaging	Het
Ptprn	C	T	1: 75,251,875 (GRCm38)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,688,328 (GRCm38)		probably null	Het
Rai1	G	A	11: 60,186,453 (GRCm38)	V448I	probably benign	Het
Rbm20	T	A	19: 53,851,354 (GRCm38)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,313,055 (GRCm38)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,119,507 (GRCm38)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,635,126 (GRCm38)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,907,883 (GRCm38)	D133E	probably benign	Het
Ryr1	T	C	7: 29,069,028 (GRCm38)	K2839E	possibly damaging	Het
Sept5	T	C	16: 18,623,368 (GRCm38)	K268R	probably benign	Het
Serpinb6b	T	A	13: 32,977,659 (GRCm38)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,762,385 (GRCm38)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,623,936 (GRCm38)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,682,046 (GRCm38)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,347,900 (GRCm38)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,611,977 (GRCm38)	F5V	probably damaging	Het
Spag17	A	G	3: 100,027,244 (GRCm38)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,395,551 (GRCm38)		probably benign	Het
Tlr1	A	T	5: 64,926,292 (GRCm38)	V314D	probably damaging	Het
Trappc8	A	T	18: 20,836,900 (GRCm38)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,760,947 (GRCm38)	*691Q	probably null	Het
Vav1	A	T	17: 57,303,079 (GRCm38)	K420*	probably null	Het
Vmn1r174	C	G	7: 23,754,137 (GRCm38)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,386,804 (GRCm38)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,166 (GRCm38)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 81,144,797 (GRCm38)	E275G	probably damaging	Het
Zfp280b	A	G	10: 76,039,462 (GRCm38)		probably null	Het
Zfp763	A	G	17: 33,019,533 (GRCm38)	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,378,529 (GRCm38)	W161R	probably benign	Het

Other mutations in Col4a3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Col4a3bp	APN	13	96,614,802 (GRCm38)	missense	probably damaging	0.99
IGL02121:Col4a3bp	APN	13	96,599,474 (GRCm38)	missense	probably benign	0.45
IGL02207:Col4a3bp	APN	13	96,624,792 (GRCm38)	critical splice donor site	probably null
IGL02285:Col4a3bp	APN	13	96,616,482 (GRCm38)	missense	probably benign	0.10
IGL02425:Col4a3bp	APN	13	96,609,882 (GRCm38)	missense	probably damaging	1.00
IGL02749:Col4a3bp	APN	13	96,629,135 (GRCm38)	missense	possibly damaging	0.60
IGL03288:Col4a3bp	APN	13	96,634,192 (GRCm38)	missense	probably benign	0.00
PIT4508001:Col4a3bp	UTSW	13	96,630,776 (GRCm38)	missense	probably damaging	1.00
R0197:Col4a3bp	UTSW	13	96,549,287 (GRCm38)	missense	probably benign	0.05
R0317:Col4a3bp	UTSW	13	96,634,121 (GRCm38)	nonsense	probably null
R2103:Col4a3bp	UTSW	13	96,634,886 (GRCm38)	missense	probably damaging	1.00
R2104:Col4a3bp	UTSW	13	96,634,886 (GRCm38)	missense	probably damaging	1.00
R4664:Col4a3bp	UTSW	13	96,599,457 (GRCm38)	missense	probably benign	0.01
R4782:Col4a3bp	UTSW	13	96,612,265 (GRCm38)	missense	probably benign
R4824:Col4a3bp	UTSW	13	96,616,487 (GRCm38)	missense	probably benign
R5060:Col4a3bp	UTSW	13	96,603,155 (GRCm38)	missense	probably benign	0.37
R5131:Col4a3bp	UTSW	13	96,614,835 (GRCm38)	missense	probably damaging	1.00
R5385:Col4a3bp	UTSW	13	96,629,067 (GRCm38)	missense	possibly damaging	0.94
R6034:Col4a3bp	UTSW	13	96,609,800 (GRCm38)	missense	probably benign	0.06
R6034:Col4a3bp	UTSW	13	96,609,800 (GRCm38)	missense	probably benign	0.06
R7193:Col4a3bp	UTSW	13	96,630,833 (GRCm38)	critical splice donor site	probably null
R7819:Col4a3bp	UTSW	13	96,629,067 (GRCm38)	missense	possibly damaging	0.74
R7827:Col4a3bp	UTSW	13	96,617,055 (GRCm38)	missense	probably damaging	1.00
R8147:Col4a3bp	UTSW	13	96,543,228 (GRCm38)	missense	probably benign
R8228:Col4a3bp	UTSW	13	96,543,215 (GRCm38)	missense	probably benign	0.08
R8486:Col4a3bp	UTSW	13	96,634,182 (GRCm38)	missense	probably damaging	0.99
R9039:Col4a3bp	UTSW	13	96,543,209 (GRCm38)	missense	probably benign	0.02
R9141:Col4a3bp	UTSW	13	96,617,060 (GRCm38)	missense	probably damaging	0.97
R9615:Col4a3bp	UTSW	13	96,630,826 (GRCm38)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TGGAAGGGCAGGCTTTCTTC -3'
(R):5'- AGCTGACAGGATCCAGGAATTG -3'

Sequencing Primer
(F):5'- GTTCCCTCACTCCCCGGAG -3'
(R):5'- TGGCCAGGCACTCATTCCAAG -3'

Posted On

2016-10-05