Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:Col4a3'

38887

Institutional Source

Beutler Lab

Gene Symbol

Col4a3

Ensembl Gene

ENSMUSG00000079465

Gene Name

collagen, type IV, alpha 3

Synonyms

tumstatin, alpha3(IV)

MMRRC Submission

038635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82564647-82699778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82647940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 484 (P484S)

Ref Sequence

ENSEMBL: ENSMUSP00000109084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113457]

AlphaFold

Q9QZS0

Predicted Effect

unknown
Transcript: ENSMUST00000113457
AA Change: P484S

SMART Domains

Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465
AA Change: P484S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Collagen	41	102	9.6e-11	PFAM
Pfam:Collagen	97	164	3.6e-11	PFAM
Pfam:Collagen	164	223	3.6e-9	PFAM
low complexity region	233	243	N/A	INTRINSIC
Pfam:Collagen	284	344	2.4e-10	PFAM
low complexity region	368	393	N/A	INTRINSIC
Pfam:Collagen	415	477	5e-10	PFAM
Pfam:Collagen	481	545	1e-9	PFAM
low complexity region	550	585	N/A	INTRINSIC
Pfam:Collagen	588	653	8.9e-9	PFAM
Pfam:Collagen	682	744	1.1e-8	PFAM
Pfam:Collagen	743	807	6.9e-10	PFAM
Pfam:Collagen	786	847	1.5e-8	PFAM
Pfam:Collagen	845	904	1.5e-10	PFAM
Pfam:Collagen	887	946	4.1e-10	PFAM
Pfam:Collagen	948	1006	8.1e-11	PFAM
Pfam:Collagen	997	1061	2.8e-10	PFAM
Pfam:Collagen	1057	1120	2.5e-10	PFAM
Pfam:Collagen	1114	1176	1.7e-9	PFAM
Pfam:Collagen	1174	1233	1.1e-9	PFAM
Pfam:Collagen	1232	1295	6.9e-9	PFAM
low complexity region	1326	1347	N/A	INTRINSIC
Pfam:Collagen	1377	1439	4.9e-11	PFAM
C4	1444	1553	3.77e-70	SMART
C4	1554	1667	3.28e-70	SMART

Meta Mutation Damage Score

0.1315

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
C7	G	T	15: 5,018,398 (GRCm39)	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Enpp3	A	G	10: 24,696,495 (GRCm39)	S147P	probably benign	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,727,246 (GRCm39)	K530R	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,486 (GRCm39)	V150I	probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Nr1h2	A	G	7: 44,199,411 (GRCm39)	*365Q	probably null	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,742 (GRCm39)	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slmap	A	T	14: 26,174,749 (GRCm39)	L161*	probably null	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		probably benign	Het

Other mutations in Col4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Col4a3	APN	1	82,675,475 (GRCm39)	missense	unknown
IGL00847:Col4a3	APN	1	82,695,590 (GRCm39)	missense	probably damaging	1.00
IGL01011:Col4a3	APN	1	82,660,022 (GRCm39)	missense	unknown
IGL01102:Col4a3	APN	1	82,647,976 (GRCm39)	missense	unknown
IGL01102:Col4a3	APN	1	82,647,441 (GRCm39)	missense	unknown
IGL02071:Col4a3	APN	1	82,638,608 (GRCm39)	critical splice donor site	probably null
IGL02244:Col4a3	APN	1	82,647,492 (GRCm39)	splice site	probably benign
IGL02380:Col4a3	APN	1	82,650,509 (GRCm39)	splice site	probably benign
IGL02431:Col4a3	APN	1	82,657,344 (GRCm39)	nonsense	probably null
IGL02466:Col4a3	APN	1	82,647,913 (GRCm39)	missense	unknown
IGL02694:Col4a3	APN	1	82,688,515 (GRCm39)	unclassified	probably benign
IGL02709:Col4a3	APN	1	82,656,833 (GRCm39)	missense	unknown
IGL02752:Col4a3	APN	1	82,637,946 (GRCm39)	missense	unknown
IGL02792:Col4a3	APN	1	82,696,524 (GRCm39)	missense	probably damaging	1.00
IGL03203:Col4a3	APN	1	82,650,360 (GRCm39)	nonsense	probably null
IGL03218:Col4a3	APN	1	82,620,927 (GRCm39)	splice site	probably benign
FR4976:Col4a3	UTSW	1	82,696,627 (GRCm39)	frame shift	probably null
PIT4260001:Col4a3	UTSW	1	82,660,482 (GRCm39)	missense	unknown
PIT4515001:Col4a3	UTSW	1	82,660,024 (GRCm39)	missense	unknown
R0035:Col4a3	UTSW	1	82,650,474 (GRCm39)	missense	unknown
R0099:Col4a3	UTSW	1	82,695,714 (GRCm39)	missense	probably benign	0.41
R0573:Col4a3	UTSW	1	82,694,084 (GRCm39)	missense	possibly damaging	0.83
R0606:Col4a3	UTSW	1	82,650,307 (GRCm39)	splice site	probably benign
R0715:Col4a3	UTSW	1	82,629,879 (GRCm39)	splice site	probably benign
R0961:Col4a3	UTSW	1	82,686,297 (GRCm39)	splice site	probably benign
R1257:Col4a3	UTSW	1	82,694,086 (GRCm39)	missense	probably damaging	1.00
R1264:Col4a3	UTSW	1	82,621,022 (GRCm39)	splice site	probably benign
R1373:Col4a3	UTSW	1	82,667,808 (GRCm39)	splice site	probably benign
R1694:Col4a3	UTSW	1	82,668,384 (GRCm39)	splice site	probably null
R1895:Col4a3	UTSW	1	82,656,829 (GRCm39)	missense	unknown
R1925:Col4a3	UTSW	1	82,689,595 (GRCm39)	unclassified	probably benign
R1925:Col4a3	UTSW	1	82,678,094 (GRCm39)	missense	unknown
R2033:Col4a3	UTSW	1	82,695,732 (GRCm39)	intron	probably benign
R2044:Col4a3	UTSW	1	82,674,040 (GRCm39)	missense	unknown
R2122:Col4a3	UTSW	1	82,632,678 (GRCm39)	missense	unknown
R2282:Col4a3	UTSW	1	82,686,359 (GRCm39)	missense	unknown
R2318:Col4a3	UTSW	1	82,626,290 (GRCm39)	splice site	probably null
R2421:Col4a3	UTSW	1	82,647,996 (GRCm39)	splice site	probably benign
R2517:Col4a3	UTSW	1	82,658,431 (GRCm39)	missense	unknown
R2965:Col4a3	UTSW	1	82,626,321 (GRCm39)	missense	unknown
R3085:Col4a3	UTSW	1	82,628,979 (GRCm39)	missense	unknown
R3150:Col4a3	UTSW	1	82,634,858 (GRCm39)	splice site	probably null
R3947:Col4a3	UTSW	1	82,693,053 (GRCm39)	missense	probably damaging	1.00
R4756:Col4a3	UTSW	1	82,694,018 (GRCm39)	critical splice acceptor site	probably null
R4910:Col4a3	UTSW	1	82,650,400 (GRCm39)	missense	unknown
R4928:Col4a3	UTSW	1	82,688,698 (GRCm39)	unclassified	probably benign
R5044:Col4a3	UTSW	1	82,644,267 (GRCm39)	missense	unknown
R5557:Col4a3	UTSW	1	82,692,968 (GRCm39)	unclassified	probably benign
R5761:Col4a3	UTSW	1	82,693,778 (GRCm39)	nonsense	probably null
R5970:Col4a3	UTSW	1	82,694,050 (GRCm39)	missense	possibly damaging	0.76
R6576:Col4a3	UTSW	1	82,686,295 (GRCm39)	splice site	probably null
R6583:Col4a3	UTSW	1	82,619,197 (GRCm39)	missense	unknown
R6675:Col4a3	UTSW	1	82,646,646 (GRCm39)	missense	unknown
R7170:Col4a3	UTSW	1	82,693,630 (GRCm39)	splice site	probably null
R7592:Col4a3	UTSW	1	82,626,338 (GRCm39)	missense	unknown
R7624:Col4a3	UTSW	1	82,696,605 (GRCm39)	missense	probably benign
R7994:Col4a3	UTSW	1	82,640,627 (GRCm39)	missense	unknown
R8127:Col4a3	UTSW	1	82,627,481 (GRCm39)	missense	unknown
R8702:Col4a3	UTSW	1	82,688,700 (GRCm39)	missense	unknown
R8865:Col4a3	UTSW	1	82,647,483 (GRCm39)	critical splice donor site	probably null
R8973:Col4a3	UTSW	1	82,693,052 (GRCm39)	missense	probably benign	0.11
R9611:Col4a3	UTSW	1	82,678,018 (GRCm39)	missense	unknown
R9665:Col4a3	UTSW	1	82,668,301 (GRCm39)	missense	unknown
R9765:Col4a3	UTSW	1	82,646,678 (GRCm39)	nonsense	probably null
X0067:Col4a3	UTSW	1	82,693,880 (GRCm39)	missense	probably damaging	0.99
Z1177:Col4a3	UTSW	1	82,667,760 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCAGGACTTGATGGACCCAAAGG -3'
(R):5'- GGGCGACTTCATGGTAACACACTTC -3'

Sequencing Primer
(F):5'- GCTAAGCCTAAAGTGAGAGTCTATCC -3'
(R):5'- GACTTCATGGTAACACACTTCTTCAG -3'

Posted On

2013-05-23