Mutagenetix > Incidental Mutation

Incidental Mutation 'R0309:Col17a1'

25181

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

Bpag2, BP180, BPAg2, Bpag

MMRRC Submission

038519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47634783-47680460 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 47659801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026045] [ENSMUST00000086923]

AlphaFold

Q07563

Predicted Effect

probably benign
Transcript: ENSMUST00000026045

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	317	335	N/A	INTRINSIC
low complexity region	431	461	N/A	INTRINSIC
transmembrane domain	476	498	N/A	INTRINSIC
Pfam:Collagen	570	631	3.2e-10	PFAM
low complexity region	634	651	N/A	INTRINSIC
low complexity region	657	693	N/A	INTRINSIC
internal_repeat_4	695	714	1.12e-5	PROSPERO
internal_repeat_3	695	723	3.81e-6	PROSPERO
internal_repeat_1	709	735	1.93e-9	PROSPERO
internal_repeat_4	719	738	1.12e-5	PROSPERO
Pfam:Collagen	753	816	1.3e-10	PFAM
Pfam:Collagen	825	871	5.9e-9	PFAM
low complexity region	889	927	N/A	INTRINSIC
low complexity region	939	960	N/A	INTRINSIC
low complexity region	981	999	N/A	INTRINSIC
low complexity region	1024	1034	N/A	INTRINSIC
low complexity region	1054	1071	N/A	INTRINSIC
low complexity region	1091	1113	N/A	INTRINSIC
low complexity region	1126	1147	N/A	INTRINSIC
low complexity region	1165	1177	N/A	INTRINSIC
low complexity region	1201	1217	N/A	INTRINSIC
low complexity region	1252	1266	N/A	INTRINSIC
low complexity region	1275	1337	N/A	INTRINSIC
low complexity region	1375	1385	N/A	INTRINSIC
Pfam:Collagen	1408	1462	3.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086923

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	317	335	N/A	INTRINSIC
low complexity region	431	461	N/A	INTRINSIC
transmembrane domain	476	498	N/A	INTRINSIC
Pfam:Collagen	570	631	3.1e-10	PFAM
Pfam:Collagen	647	726	5.2e-7	PFAM
Pfam:Collagen	699	772	1.8e-9	PFAM
Pfam:Collagen	753	816	1.3e-10	PFAM
Pfam:Collagen	825	871	5.9e-9	PFAM
low complexity region	889	927	N/A	INTRINSIC
low complexity region	939	960	N/A	INTRINSIC
low complexity region	981	999	N/A	INTRINSIC
low complexity region	1024	1034	N/A	INTRINSIC
low complexity region	1054	1071	N/A	INTRINSIC
low complexity region	1091	1113	N/A	INTRINSIC
low complexity region	1126	1147	N/A	INTRINSIC
low complexity region	1164	1180	N/A	INTRINSIC
low complexity region	1215	1229	N/A	INTRINSIC
low complexity region	1238	1300	N/A	INTRINSIC
low complexity region	1338	1348	N/A	INTRINSIC
Pfam:Collagen	1371	1425	3.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145254

Coding Region Coverage

1x: 98.7%
3x: 97.6%
10x: 94.3%
20x: 86.4%

Validation Efficiency

98% (125/127)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,266,271 (GRCm39)	D133G	possibly damaging	Het
Abcb4	A	C	5: 8,989,835 (GRCm39)	D796A	probably damaging	Het
Actg2	A	T	6: 83,496,896 (GRCm39)	V147E	probably damaging	Het
Adamts13	A	C	2: 26,877,001 (GRCm39)	T534P	probably damaging	Het
Ago1	T	C	4: 126,336,959 (GRCm39)	T249A	probably benign	Het
Ahnak	T	A	19: 8,979,859 (GRCm39)	I381N	probably damaging	Het
Akap9	A	G	5: 4,119,038 (GRCm39)	D3515G	probably benign	Het
Angptl3	T	C	4: 98,922,706 (GRCm39)	V249A	probably benign	Het
Ank	A	G	15: 27,567,658 (GRCm39)	T294A	possibly damaging	Het
Ank1	A	T	8: 23,594,825 (GRCm39)	H204L	probably damaging	Het
Apbb2	A	G	5: 66,468,331 (GRCm39)		probably benign	Het
Arhgap28	A	T	17: 68,208,424 (GRCm39)	S15T	probably benign	Het
Aspm	T	C	1: 139,410,249 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,062,554 (GRCm39)	E651G	probably damaging	Het
B3gnt2	A	T	11: 22,786,860 (GRCm39)	F109L	probably damaging	Het
Bpifb4	T	C	2: 153,801,603 (GRCm39)	F575L	probably damaging	Het
Calhm4	A	G	10: 33,920,043 (GRCm39)	W75R	probably damaging	Het
Calr	C	A	8: 85,569,660 (GRCm39)	K322N	probably benign	Het
Ccdc188	T	C	16: 18,037,169 (GRCm39)	S247P	possibly damaging	Het
Cdr1	T	A	X: 60,228,908 (GRCm39)	D86V	unknown	Het
Cep97	C	T	16: 55,745,421 (GRCm39)	V48I	probably damaging	Het
Chaf1b	T	A	16: 93,681,399 (GRCm39)	C6S	probably damaging	Het
Chd3	C	T	11: 69,247,844 (GRCm39)	D920N	probably damaging	Het
Clk1	T	C	1: 58,452,192 (GRCm39)		probably benign	Het
Cntnap3	T	A	13: 64,905,250 (GRCm39)		probably benign	Het
Col12a1	T	A	9: 79,507,293 (GRCm39)		probably null	Het
Coq7	T	A	7: 118,128,940 (GRCm39)	I32F	possibly damaging	Het
Cox6a2	A	T	7: 127,805,107 (GRCm39)	F59I	probably damaging	Het
Cpq	A	G	15: 33,594,297 (GRCm39)	D436G	probably damaging	Het
Ctso	G	A	3: 81,852,168 (GRCm39)		probably null	Het
Cxadr	A	T	16: 78,131,836 (GRCm39)	H274L	probably benign	Het
Cyp2c40	A	T	19: 39,766,495 (GRCm39)	C367S	possibly damaging	Het
Cyp2c70	T	G	19: 40,149,115 (GRCm39)	M344L	possibly damaging	Het
Defa35	G	A	8: 21,555,871 (GRCm39)	V77I	probably benign	Het
Dhx57	A	G	17: 80,582,310 (GRCm39)	Y432H	probably damaging	Het
Dhx9	A	T	1: 153,341,441 (GRCm39)	D601E	probably benign	Het
Dnah7a	C	G	1: 53,444,849 (GRCm39)	D3952H	probably damaging	Het
Dnah9	C	A	11: 65,917,798 (GRCm39)		probably benign	Het
Dstyk	C	A	1: 132,384,602 (GRCm39)		probably benign	Het
Efcab2	T	A	1: 178,303,469 (GRCm39)		probably benign	Het
Ehbp1l1	T	C	19: 5,770,598 (GRCm39)	E287G	possibly damaging	Het
Epgn	A	G	5: 91,180,073 (GRCm39)	T87A	probably benign	Het
Erc2	A	C	14: 27,863,182 (GRCm39)	E803A	probably damaging	Het
Fer	A	G	17: 64,446,011 (GRCm39)	*454W	probably null	Het
Glyr1	T	C	16: 4,849,836 (GRCm39)	D179G	probably damaging	Het
Gm12830	T	A	4: 114,702,173 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,967,129 (GRCm39)		probably benign	Het
Gsta3	C	T	1: 21,335,118 (GRCm39)	P200S	possibly damaging	Het
Hmgxb3	G	A	18: 61,288,200 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il16	T	C	7: 83,371,762 (GRCm39)	K15E	probably damaging	Het
Kcnip2	T	A	19: 45,782,514 (GRCm39)		probably benign	Het
Kdm4c	T	C	4: 74,263,804 (GRCm39)	V696A	probably benign	Het
Kdr	A	G	5: 76,107,587 (GRCm39)		probably benign	Het
Klhl33	T	G	14: 51,128,868 (GRCm39)	H787P	probably damaging	Het
Klk14	A	T	7: 43,343,769 (GRCm39)	T159S	probably benign	Het
Lancl2	A	G	6: 57,680,117 (GRCm39)	N16D	probably damaging	Het
Lemd3	T	C	10: 120,773,015 (GRCm39)	N583S	possibly damaging	Het
Map3k4	TGCTGGCTTCAGGGCCACAGTCCGCTG	TGCTG	17: 12,489,902 (GRCm39)		probably null	Het
Mpl	T	G	4: 118,303,235 (GRCm39)		probably benign	Het
Myh7b	T	C	2: 155,472,592 (GRCm39)		probably benign	Het
Mylk	A	C	16: 34,732,667 (GRCm39)		probably benign	Het
Myof	A	T	19: 37,969,714 (GRCm39)	M316K	probably benign	Het
Nfib	T	A	4: 82,214,974 (GRCm39)	N543I	probably damaging	Het
Nfix	A	G	8: 85,448,403 (GRCm39)	S375P	probably damaging	Het
Nkrf	T	C	X: 36,153,769 (GRCm39)	Q171R	probably damaging	Het
Nmnat2	T	A	1: 152,952,747 (GRCm39)		probably benign	Het
Npffr2	G	A	5: 89,731,206 (GRCm39)	E379K	probably benign	Het
Npr2	T	C	4: 43,640,904 (GRCm39)		probably benign	Het
Nup98	A	C	7: 101,801,635 (GRCm39)	D212E	probably null	Het
Nwd2	T	C	5: 63,964,561 (GRCm39)	Y1382H	probably damaging	Het
Ocstamp	T	C	2: 165,237,912 (GRCm39)	R451G	possibly damaging	Het
Or52s1	T	A	7: 102,861,928 (GRCm39)	I287K	probably damaging	Het
Or6c6c	A	G	10: 129,541,008 (GRCm39)	D87G	probably benign	Het
Pabpc1	C	T	15: 36,597,737 (GRCm39)	A551T	possibly damaging	Het
Pard3	A	T	8: 128,103,378 (GRCm39)		probably benign	Het
Pcdhb12	G	T	18: 37,569,174 (GRCm39)	V107L	probably benign	Het
Pik3cd	A	T	4: 149,747,677 (GRCm39)	V22D	probably damaging	Het
Pkd1l2	A	G	8: 117,724,315 (GRCm39)	V2396A	probably damaging	Het
Pnpla7	T	C	2: 24,877,207 (GRCm39)	I167T	probably damaging	Het
Pphln1	A	T	15: 93,339,588 (GRCm39)	H114L	possibly damaging	Het
Ppm1h	A	G	10: 122,756,687 (GRCm39)	N444S	probably damaging	Het
Prdm9	G	A	17: 15,777,646 (GRCm39)	T146I	probably damaging	Het
Prrc2a	A	G	17: 35,369,891 (GRCm39)		probably benign	Het
Prrx1	T	C	1: 163,140,128 (GRCm39)	D26G	possibly damaging	Het
Ptpn5	T	C	7: 46,729,042 (GRCm39)	E495G	probably damaging	Het
Rab23	A	C	1: 33,773,942 (GRCm39)		probably null	Het
Ralgps1	C	T	2: 33,047,935 (GRCm39)	M348I	probably benign	Het
Ranbp2	A	G	10: 58,315,690 (GRCm39)	T2137A	probably benign	Het
Rapgef4	G	T	2: 72,056,374 (GRCm39)	G654V	probably benign	Het
Rc3h2	A	T	2: 37,269,020 (GRCm39)		probably benign	Het
Reg2	G	A	6: 78,383,169 (GRCm39)	A39T	possibly damaging	Het
Sema4d	C	A	13: 51,879,347 (GRCm39)	V7F	probably benign	Het
Sgip1	T	C	4: 102,772,354 (GRCm39)		probably benign	Het
Sgpl1	C	T	10: 60,949,216 (GRCm39)		probably null	Het
Shisa9	G	A	16: 11,814,987 (GRCm39)	V212M	probably damaging	Het
Shq1	G	A	6: 100,550,588 (GRCm39)	P450L	probably benign	Het
Sin3a	A	G	9: 57,018,196 (GRCm39)	T872A	probably benign	Het
Sipa1l3	C	T	7: 29,047,775 (GRCm39)	R1371Q	probably benign	Het
Skint8	T	C	4: 111,796,064 (GRCm39)	V246A	probably benign	Het
Slc22a20	A	T	19: 6,022,985 (GRCm39)	V386D	probably damaging	Het
Slc28a2b	A	T	2: 122,348,034 (GRCm39)	T253S	probably benign	Het
Slc2a7	G	A	4: 150,242,528 (GRCm39)		probably benign	Het
Slc35a2	T	A	X: 7,755,901 (GRCm39)	Y48N	probably damaging	Het
Slc4a2	G	T	5: 24,639,344 (GRCm39)	S413I	probably damaging	Het
Sntg2	T	C	12: 30,276,772 (GRCm39)	T427A	probably benign	Het
Soat1	T	C	1: 156,270,023 (GRCm39)	Y132C	probably damaging	Het
Stn1	G	T	19: 47,490,112 (GRCm39)	H342N	probably benign	Het
Tarbp1	T	A	8: 127,165,667 (GRCm39)		probably benign	Het
Tas2r113	A	C	6: 132,870,341 (GRCm39)	K123T	probably damaging	Het
Tbck	C	T	3: 132,440,168 (GRCm39)	Q504*	probably null	Het
Tenm3	C	T	8: 48,794,069 (GRCm39)	C380Y	probably damaging	Het
Tent4a	A	T	13: 69,648,051 (GRCm39)	V781E	possibly damaging	Het
Triobp	A	G	15: 78,860,740 (GRCm39)	D1389G	probably damaging	Het
Trpm4	A	T	7: 44,958,130 (GRCm39)	F780I	probably damaging	Het
Tubb4a	G	T	17: 57,388,182 (GRCm39)	Y281*	probably null	Het
Txndc15	T	C	13: 55,872,395 (GRCm39)	F261S	probably damaging	Het
Ube3b	T	C	5: 114,557,530 (GRCm39)		probably benign	Het
Unc5c	G	C	3: 141,439,694 (GRCm39)	V196L	probably benign	Het
Upf3a	G	A	8: 13,845,500 (GRCm39)		probably null	Het
Vmn2r20	T	C	6: 123,363,063 (GRCm39)	K574E	probably benign	Het
Vps50	A	G	6: 3,536,853 (GRCm39)	M275V	possibly damaging	Het
Xrcc5	A	G	1: 72,346,735 (GRCm39)		probably benign	Het
Zbtb18	T	C	1: 177,276,182 (GRCm39)	L505S	probably damaging	Het
Zbtb41	T	C	1: 139,366,722 (GRCm39)	I567T	probably damaging	Het
Zfp598	T	C	17: 24,897,558 (GRCm39)		probably benign	Het

Other mutations in Col17a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Col17a1	APN	19	47,669,842 (GRCm39)	missense	probably damaging	1.00
IGL01620:Col17a1	APN	19	47,656,978 (GRCm39)	missense	possibly damaging	0.81
IGL02149:Col17a1	APN	19	47,657,071 (GRCm39)	missense	probably benign	0.01
IGL02176:Col17a1	APN	19	47,639,658 (GRCm39)	missense	probably benign	0.02
IGL03352:Col17a1	APN	19	47,669,814 (GRCm39)	splice site	probably null
IGL03409:Col17a1	APN	19	47,654,979 (GRCm39)	missense	possibly damaging	0.79
fleabitten	UTSW	19	47,656,544 (GRCm39)	nonsense	probably null
idaho	UTSW	19	47,667,861 (GRCm39)	nonsense	probably null
scabby	UTSW	19	47,668,847 (GRCm39)	nonsense	probably null
testimony	UTSW	19	47,643,629 (GRCm39)	critical splice donor site	probably null
IGL03050:Col17a1	UTSW	19	47,636,537 (GRCm39)	critical splice donor site	probably null
PIT4480001:Col17a1	UTSW	19	47,659,813 (GRCm39)	missense	probably benign	0.05
R0316:Col17a1	UTSW	19	47,673,972 (GRCm39)	critical splice donor site	probably null
R0330:Col17a1	UTSW	19	47,658,871 (GRCm39)	missense	probably benign	0.27
R0391:Col17a1	UTSW	19	47,652,263 (GRCm39)	missense	probably damaging	0.99
R0570:Col17a1	UTSW	19	47,654,317 (GRCm39)	missense	possibly damaging	0.93
R0737:Col17a1	UTSW	19	47,657,872 (GRCm39)	missense	possibly damaging	0.95
R1344:Col17a1	UTSW	19	47,659,944 (GRCm39)	missense	probably damaging	1.00
R1418:Col17a1	UTSW	19	47,659,944 (GRCm39)	missense	probably damaging	1.00
R1549:Col17a1	UTSW	19	47,637,349 (GRCm39)	unclassified	probably benign
R1585:Col17a1	UTSW	19	47,639,276 (GRCm39)	missense	probably benign	0.00
R1710:Col17a1	UTSW	19	47,659,370 (GRCm39)	missense	probably damaging	1.00
R1712:Col17a1	UTSW	19	47,637,442 (GRCm39)	unclassified	probably benign
R1800:Col17a1	UTSW	19	47,639,301 (GRCm39)	missense	possibly damaging	0.72
R2007:Col17a1	UTSW	19	47,656,141 (GRCm39)	missense	probably damaging	1.00
R2024:Col17a1	UTSW	19	47,639,185 (GRCm39)	missense	probably benign	0.02
R2258:Col17a1	UTSW	19	47,669,816 (GRCm39)	critical splice donor site	probably null
R2268:Col17a1	UTSW	19	47,638,550 (GRCm39)	missense	probably benign	0.00
R3608:Col17a1	UTSW	19	47,668,844 (GRCm39)	missense	probably benign	0.00
R4380:Col17a1	UTSW	19	47,645,529 (GRCm39)	missense	possibly damaging	0.94
R4675:Col17a1	UTSW	19	47,651,497 (GRCm39)	critical splice acceptor site	probably null
R4928:Col17a1	UTSW	19	47,658,897 (GRCm39)	splice site	probably null
R5058:Col17a1	UTSW	19	47,673,989 (GRCm39)	nonsense	probably null
R5407:Col17a1	UTSW	19	47,654,946 (GRCm39)	missense	probably damaging	1.00
R5417:Col17a1	UTSW	19	47,650,829 (GRCm39)	missense	probably damaging	1.00
R5572:Col17a1	UTSW	19	47,639,168 (GRCm39)	missense	probably benign	0.44
R5889:Col17a1	UTSW	19	47,637,511 (GRCm39)	missense	possibly damaging	0.93
R5988:Col17a1	UTSW	19	47,642,659 (GRCm39)	missense	probably damaging	1.00
R6054:Col17a1	UTSW	19	47,668,859 (GRCm39)	missense	probably damaging	1.00
R6345:Col17a1	UTSW	19	47,641,818 (GRCm39)	missense	possibly damaging	0.93
R6432:Col17a1	UTSW	19	47,668,847 (GRCm39)	nonsense	probably null
R6484:Col17a1	UTSW	19	47,658,868 (GRCm39)	missense	possibly damaging	0.67
R6754:Col17a1	UTSW	19	47,639,160 (GRCm39)	splice site	probably null
R7028:Col17a1	UTSW	19	47,640,622 (GRCm39)	missense	probably damaging	0.96
R7465:Col17a1	UTSW	19	47,656,544 (GRCm39)	nonsense	probably null
R7565:Col17a1	UTSW	19	47,659,963 (GRCm39)	missense	possibly damaging	0.77
R7662:Col17a1	UTSW	19	47,669,940 (GRCm39)	missense	probably benign	0.04
R7726:Col17a1	UTSW	19	47,643,629 (GRCm39)	critical splice donor site	probably null
R7957:Col17a1	UTSW	19	47,649,556 (GRCm39)	missense	probably damaging	1.00
R8677:Col17a1	UTSW	19	47,640,240 (GRCm39)	missense	probably benign	0.14
R8720:Col17a1	UTSW	19	47,637,531 (GRCm39)	critical splice acceptor site	probably benign
R8877:Col17a1	UTSW	19	47,637,197 (GRCm39)	missense	unknown
R9017:Col17a1	UTSW	19	47,657,898 (GRCm39)	missense	probably benign	0.00
R9057:Col17a1	UTSW	19	47,637,522 (GRCm39)	missense	probably damaging	0.96
R9231:Col17a1	UTSW	19	47,667,861 (GRCm39)	nonsense	probably null
R9714:Col17a1	UTSW	19	47,636,634 (GRCm39)	missense	unknown
Z1088:Col17a1	UTSW	19	47,640,617 (GRCm39)	missense	possibly damaging	0.85
Z1176:Col17a1	UTSW	19	47,637,868 (GRCm39)	small deletion	probably benign
Z1177:Col17a1	UTSW	19	47,638,743 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- ACCCCATGTTGAATGTTATCGCCC -3'
(R):5'- AGTGTCCAGAGTGACGACCTCTTG -3'

Sequencing Primer
(F):5'- GTCTTCTGAAAAGGAAGCTATGCAC -3'
(R):5'- GTGACGACCTCTTGCATAAAG -3'

Posted On

2013-04-16