Mutagenetix > Incidental Mutations

Incidental Mutation 'R2024:Col17a1'

220357

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

BP180, Bpag2, BPAg2, Bpag

MMRRC Submission

040033-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47646344-47692094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47650746 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1120 (H1120L)

Ref Sequence

ENSEMBL: ENSMUSP00000084141 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026045
AA Change: H1120L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: H1120L

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
AA Change: H1120L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: H1120L

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: ENSMUST00000151102

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,361,799	D280G	probably damaging	Het
Azi2	C	T	9: 118,049,322	R77*	probably null	Het
Chd8	T	C	14: 52,231,493	D556G	probably benign	Het
Cit	T	C	5: 115,947,924	M849T	probably damaging	Het
Cit	T	C	5: 116,005,840	S1923P	probably damaging	Het
Col6a5	G	T	9: 105,936,994	H606Q	unknown	Het
Dnajc2	A	C	5: 21,776,790	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,709,459	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,914,696	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,360,946	E342K	possibly damaging	Het
Fam214a	A	G	9: 75,010,390	D757G	probably damaging	Het
Fam3c	T	C	6: 22,329,593	D45G	probably benign	Het
Fchsd2	A	C	7: 101,198,533	D210A	possibly damaging	Het
Flg	T	A	3: 93,279,415	M58K	probably damaging	Het
Gabra5	G	A	7: 57,488,950	R117C	probably damaging	Het
Gm6741	G	A	17: 91,236,881	S24N	probably benign	Het
Grin2a	T	C	16: 9,644,243	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,281,918	V642G	possibly damaging	Het
Herc6	C	T	6: 57,583,332	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmgcs2	T	C	3: 98,299,214	S371P	probably damaging	Het
Idua	C	T	5: 108,680,734	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,695,350	C125*	probably null	Het
Krt14	C	T	11: 100,207,218	G80R	unknown	Het
Lama5	T	C	2: 180,179,130	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,806,502	C125Y	unknown	Het
Lig4	A	T	8: 9,972,436	L448Q	probably damaging	Het
Macf1	C	T	4: 123,371,918	A4821T	probably damaging	Het
Meioc	C	T	11: 102,675,358	A600V	probably benign	Het
Mepe	T	C	5: 104,327,091	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365	Y999C	probably damaging	Het
Ncbp3	T	A	11: 73,053,520	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,439,892	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,190,817	I38T	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1299	T	A	2: 111,664,823	M199K	possibly damaging	Het
Padi6	T	G	4: 140,728,968	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,393,875	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,019,533	V1906A	probably benign	Het
Pom121	T	C	5: 135,381,550		probably benign	Het
Psmd9	T	C	5: 123,241,862	F115L	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rai1	T	C	11: 60,185,589	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,826,872	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,255,788	Y40F	probably damaging	Het
Setd2	T	C	9: 110,549,133	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,417,220	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,267,264	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,890,531	T284I	probably damaging	Het
Slfn9	A	G	11: 82,981,681	L743P	probably damaging	Het
Smchd1	T	A	17: 71,370,928	N1473I	probably benign	Het
Stx1b	A	T	7: 127,815,403	D16E	probably benign	Het
Tectb	T	C	19: 55,181,929	F71L	probably damaging	Het
Tmem220	T	C	11: 67,034,153	I138T	possibly damaging	Het
Tmtc4	T	C	14: 122,921,265	N682S	probably benign	Het
Tnc	A	G	4: 63,964,621	V1921A	probably damaging	Het
Ubn1	T	G	16: 5,064,623	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,736,061	S579P	probably damaging	Het
Xdh	A	G	17: 73,921,305	L367P	possibly damaging	Het
Zfp280b	T	C	10: 76,038,494	L69S	probably damaging	Het
Zfp990	A	C	4: 145,537,404	Y324S	possibly damaging	Het

Other mutations in Col17a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Col17a1	APN	19	47681403	missense	probably damaging	1.00
IGL01620:Col17a1	APN	19	47668539	missense	possibly damaging	0.81
IGL02149:Col17a1	APN	19	47668632	missense	probably benign	0.01
IGL02176:Col17a1	APN	19	47651219	missense	probably benign	0.02
IGL03352:Col17a1	APN	19	47681375	splice site	probably null
IGL03409:Col17a1	APN	19	47666540	missense	possibly damaging	0.79
scabby	UTSW	19	47680408	nonsense	probably null
IGL03050:Col17a1	UTSW	19	47648098	critical splice donor site	probably null
PIT4480001:Col17a1	UTSW	19	47671374	missense	probably benign	0.05
R0309:Col17a1	UTSW	19	47671362	splice site	probably benign
R0316:Col17a1	UTSW	19	47685533	critical splice donor site	probably null
R0330:Col17a1	UTSW	19	47670432	missense	probably benign	0.27
R0391:Col17a1	UTSW	19	47663824	missense	probably damaging	0.99
R0570:Col17a1	UTSW	19	47665878	missense	possibly damaging	0.93
R0737:Col17a1	UTSW	19	47669433	missense	possibly damaging	0.95
R1344:Col17a1	UTSW	19	47671505	missense	probably damaging	1.00
R1418:Col17a1	UTSW	19	47671505	missense	probably damaging	1.00
R1549:Col17a1	UTSW	19	47648910	unclassified	probably benign
R1585:Col17a1	UTSW	19	47650837	missense	probably benign	0.00
R1710:Col17a1	UTSW	19	47670931	missense	probably damaging	1.00
R1712:Col17a1	UTSW	19	47649003	unclassified	probably benign
R1800:Col17a1	UTSW	19	47650862	missense	possibly damaging	0.72
R2007:Col17a1	UTSW	19	47667702	missense	probably damaging	1.00
R2258:Col17a1	UTSW	19	47681377	critical splice donor site	probably null
R2268:Col17a1	UTSW	19	47650111	missense	probably benign	0.00
R3608:Col17a1	UTSW	19	47680405	missense	probably benign	0.00
R4380:Col17a1	UTSW	19	47657090	missense	possibly damaging	0.94
R4675:Col17a1	UTSW	19	47663058	critical splice acceptor site	probably null
R4928:Col17a1	UTSW	19	47670458	splice site	probably null
R5058:Col17a1	UTSW	19	47685550	nonsense	probably null
R5407:Col17a1	UTSW	19	47666507	missense	probably damaging	1.00
R5417:Col17a1	UTSW	19	47662390	missense	probably damaging	1.00
R5572:Col17a1	UTSW	19	47650729	missense	probably benign	0.44
R5889:Col17a1	UTSW	19	47649072	missense	possibly damaging	0.93
R5988:Col17a1	UTSW	19	47654220	missense	probably damaging	1.00
R6054:Col17a1	UTSW	19	47680420	missense	probably damaging	1.00
R6345:Col17a1	UTSW	19	47653379	missense	possibly damaging	0.93
R6432:Col17a1	UTSW	19	47680408	nonsense	probably null
R6484:Col17a1	UTSW	19	47670429	missense	possibly damaging	0.67
R6754:Col17a1	UTSW	19	47650721	splice site	probably null
R7028:Col17a1	UTSW	19	47652183	missense	probably damaging	0.96
R7465:Col17a1	UTSW	19	47668105	nonsense	probably null
R7565:Col17a1	UTSW	19	47671524	missense	possibly damaging	0.77
Z1088:Col17a1	UTSW	19	47652178	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TTCATGCGTACACCCATGTGC -3'
(R):5'- AGGAACTCCTCCCAGCAGTTAC -3'

Sequencing Primer
(F):5'- GTACACCCATGTGCTCCCG -3'
(R):5'- TCTGGGCAGGTAGACACAACTG -3'

Posted On

2014-08-25