Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Col17a1'

381060

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

Bpag2, BP180, BPAg2, Bpag

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47634783-47680460 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 47658897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084141 (fasta)

Gene Model

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

AlphaFold

Q07563

Predicted Effect

probably null
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 null
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 null
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

probably null
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

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 82,805,086 (GRCm39)		noncoding transcript	Het
Aasdh	T	A	5: 77,044,535 (GRCm39)	K118N	possibly damaging	Het
Abca14	A	T	7: 119,923,803 (GRCm39)	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,776,641 (GRCm39)	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,751,064 (GRCm39)	Y579*	probably null	Het
Aifm3	T	C	16: 17,318,296 (GRCm39)		probably benign	Het
Aldh16a1	A	G	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Amer2	A	T	14: 60,616,894 (GRCm39)	H363L	possibly damaging	Het
Arhgap10	A	G	8: 78,152,957 (GRCm39)		probably null	Het
Arhgef6	A	T	X: 56,280,238 (GRCm39)	D742E	probably damaging	Het
Astn2	A	T	4: 65,647,644 (GRCm39)	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,105,954 (GRCm39)	T904A	possibly damaging	Het
Atr	C	T	9: 95,789,352 (GRCm39)	R1503W	probably damaging	Het
Cdh3	G	T	8: 107,263,242 (GRCm39)	R97L	probably benign	Het
Chst2	C	T	9: 95,288,059 (GRCm39)	V96I	probably benign	Het
Cit	T	A	5: 116,123,856 (GRCm39)	N1464K	probably benign	Het
Col4a3	G	A	1: 82,688,698 (GRCm39)		probably benign	Het
Copz1	T	A	15: 103,199,757 (GRCm39)	S57R	probably damaging	Het
Cpped1	A	T	16: 11,646,143 (GRCm39)	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 95,990,388 (GRCm39)		probably null	Het
Dctn1	T	A	6: 83,166,189 (GRCm39)	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,742,751 (GRCm39)	I148V	probably benign	Het
Dnah17	T	C	11: 117,918,259 (GRCm39)	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,110,837 (GRCm39)	N145D	possibly damaging	Het
Ecpas	A	G	4: 58,827,073 (GRCm39)	V1020A	probably damaging	Het
Entrep2	G	T	7: 64,409,116 (GRCm39)	S426*	probably null	Het
Ercc6l2	T	C	13: 64,042,627 (GRCm39)		probably benign	Het
Fads6	T	G	11: 115,187,387 (GRCm39)	I103L	probably benign	Het
Fat4	T	G	3: 39,064,614 (GRCm39)	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,457,671 (GRCm39)	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,826,655 (GRCm39)	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,406,577 (GRCm39)	V9E	probably damaging	Het
Gm14412	A	T	2: 177,006,373 (GRCm39)	S507R	probably benign	Het
Gm15142	T	A	X: 153,421,415 (GRCm39)		noncoding transcript	Het
Gm4787	T	C	12: 81,425,612 (GRCm39)	E182G	probably benign	Het
Gm6811	C	A	17: 21,314,893 (GRCm39)		noncoding transcript	Het
Gm9791	A	T	3: 34,059,218 (GRCm39)		noncoding transcript	Het
Hoxb7	A	T	11: 96,180,336 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,892,819 (GRCm39)		probably benign	Het
Krt28	C	T	11: 99,265,458 (GRCm39)	V70I	probably benign	Het
Lig1	T	C	7: 13,032,664 (GRCm39)	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,060,048 (GRCm39)	R59H	possibly damaging	Het
Mavs	T	C	2: 131,088,663 (GRCm39)	V489A	probably benign	Het
Mcm8	C	T	2: 132,681,399 (GRCm39)	P625L	probably benign	Het
Megf10	G	T	18: 57,373,745 (GRCm39)	R181L	probably benign	Het
Mgrn1	G	A	16: 4,745,726 (GRCm39)	G440D	probably benign	Het
Mllt3	T	C	4: 87,700,642 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,371,639 (GRCm39)	Y2613*	probably null	Het
Myh14	C	T	7: 44,284,926 (GRCm39)	G662S	probably benign	Het
Myod1	T	A	7: 46,026,474 (GRCm39)	N126K	probably damaging	Het
Nae1	A	T	8: 105,242,774 (GRCm39)	H439Q	possibly damaging	Het
Narf	T	A	11: 121,135,765 (GRCm39)	V136E	possibly damaging	Het
Ncapd3	T	A	9: 26,983,031 (GRCm39)	C926*	probably null	Het
Ndufv2	C	A	17: 66,399,653 (GRCm39)		probably null	Het
Neb	T	C	2: 52,102,987 (GRCm39)	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577 (GRCm38)	P698L	probably damaging	Het
Nox3	T	A	17: 3,685,550 (GRCm39)	E566V	probably null	Het
Oas1a	C	T	5: 121,043,787 (GRCm39)	R115H	probably benign	Het
Or10ag60	C	A	2: 87,438,487 (GRCm39)	L252I	probably benign	Het
Or51b6	A	G	7: 103,555,879 (GRCm39)	T78A	probably damaging	Het
Or5w19	A	G	2: 87,698,574 (GRCm39)	M80V	probably benign	Het
Or8k30	T	A	2: 86,339,469 (GRCm39)	L222H	probably damaging	Het
Pbld2	A	G	10: 62,883,778 (GRCm39)	H142R	probably damaging	Het
Pcdha4	C	T	18: 37,087,869 (GRCm39)	T684M	probably benign	Het
Phc3	G	T	3: 31,005,068 (GRCm39)	T175N	probably damaging	Het
Pigs	G	T	11: 78,219,828 (GRCm39)	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,913,528 (GRCm39)	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 71,953,998 (GRCm39)	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,889,850 (GRCm39)	W374*	probably null	Het
Ptpn14	G	A	1: 189,554,839 (GRCm39)	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,336,446 (GRCm39)	N95S	probably benign	Het
Ptrh2	G	T	11: 86,580,862 (GRCm39)	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,655,256 (GRCm39)	D486G	probably damaging	Het
Rev3l	T	G	10: 39,699,981 (GRCm39)	S1493A	probably benign	Het
Rgs9	T	A	11: 109,116,570 (GRCm39)	D411V	probably benign	Het
Rgsl1	A	T	1: 153,669,514 (GRCm39)	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,671,849 (GRCm39)	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,393,167 (GRCm39)		probably benign	Het
Scnn1a	T	C	6: 125,299,136 (GRCm39)	I72T	probably damaging	Het
Sdk1	A	T	5: 141,842,758 (GRCm39)		probably benign	Het
Sfmbt2	T	C	2: 10,450,556 (GRCm39)	L277P	probably benign	Het
Sgf29	A	G	7: 126,264,154 (GRCm39)	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,183,306 (GRCm39)	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,640,340 (GRCm39)		probably null	Het
Slc9a3	T	G	13: 74,305,838 (GRCm39)	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,395,772 (GRCm39)	T608A	probably benign	Het
Slfnl1	C	T	4: 120,392,882 (GRCm39)	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,051,898 (GRCm39)	F344I	probably benign	Het
Snrnp70	A	T	7: 45,026,705 (GRCm39)		probably null	Het
Sod2	C	T	17: 13,227,073 (GRCm39)	T9M	probably benign	Het
Spag5	T	A	11: 78,205,199 (GRCm39)	S633T	probably damaging	Het
Spta1	A	T	1: 174,018,622 (GRCm39)	I531L	probably benign	Het
Stra8	A	G	6: 34,910,091 (GRCm39)	E60G	probably benign	Het
Sult2a3	T	A	7: 13,845,482 (GRCm39)	I126F	probably benign	Het
Syt1	T	C	10: 108,340,373 (GRCm39)	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,758,588 (GRCm39)	L783P	probably damaging	Het
Thbs2	C	T	17: 14,899,162 (GRCm39)	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,693,989 (GRCm39)	K33*	probably null	Het
Trim17	T	C	11: 58,845,127 (GRCm39)		probably benign	Het
Tsr1	G	A	11: 74,798,705 (GRCm39)	M691I	probably benign	Het
Ttn	T	A	2: 76,592,763 (GRCm39)	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,312,168 (GRCm39)	Y208*	probably null	Het
Ubr1	T	A	2: 120,745,419 (GRCm39)	I890F	probably damaging	Het
Usp54	T	C	14: 20,612,260 (GRCm39)	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,603,835 (GRCm39)	V671A	probably damaging	Het
Wipi1	T	C	11: 109,470,475 (GRCm39)	K315E	probably benign	Het
Xrn2	T	C	2: 146,893,638 (GRCm39)	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,347,973 (GRCm39)	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,604,962 (GRCm39)	C648*	probably null	Het
Zfp369	A	G	13: 65,444,614 (GRCm39)	T586A	possibly damaging	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
R0309:Col17a1	UTSW	19	47,659,801 (GRCm39)	splice site	probably benign
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
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'- CCTTTAGGAGGCCAGATCTG -3'
(R):5'- TTCAACATGGGGTCCACTGG -3'

Sequencing Primer
(F):5'- AGATCTGAACAGCTCACGTATG -3'
(R):5'- GTCTACCTCAGACCTACTGGG -3'

Posted On

2016-04-15