Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00809:Col17a1'

9806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

Bpag2, BP180, BPAg2, Bpag

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00809

Quality Score

Status

Chromosome

Chromosomal Location

47634783-47680460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47669842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 103 (H103Q)

Ref Sequence

ENSEMBL: ENSMUSP00000084141 (fasta)

Gene Model

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

AlphaFold

Q07563

Predicted Effect

probably damaging
Transcript: ENSMUST00000026045
AA Change: H103Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: H103Q

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 damaging
Transcript: ENSMUST00000086923
AA Change: H103Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: H103Q

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

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,983 (GRCm39)	T113A	possibly damaging	Het
Akap10	T	A	11: 61,805,897 (GRCm39)	N277I	possibly damaging	Het
Ankrd24	A	T	10: 81,478,901 (GRCm39)		probably benign	Het
Bfsp2	T	C	9: 103,330,297 (GRCm39)	E180G	possibly damaging	Het
Cd55	A	T	1: 130,380,248 (GRCm39)	Y243*	probably null	Het
Diaph3	A	T	14: 87,237,463 (GRCm39)	H311Q	probably damaging	Het
Dnah1	G	A	14: 31,022,766 (GRCm39)	Q1124*	probably null	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fzr1	G	T	10: 81,206,359 (GRCm39)	S137*	probably null	Het
Gnl3	A	G	14: 30,736,146 (GRCm39)	I298T	possibly damaging	Het
Hnrnpa2b1	C	T	6: 51,443,993 (GRCm39)	G65S	probably damaging	Het
Hsd17b7	A	T	1: 169,793,324 (GRCm39)	Y88*	probably null	Het
Itga2	C	A	13: 115,014,161 (GRCm39)	A256S	probably damaging	Het
Itga7	T	C	10: 128,775,038 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,819 (GRCm39)	Q82L	possibly damaging	Het
Lin28a	C	T	4: 133,735,367 (GRCm39)	G90S	probably damaging	Het
Lkaaear1	A	T	2: 181,339,127 (GRCm39)	S108T	probably benign	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Osbpl9	C	T	4: 108,990,960 (GRCm39)	R100H	probably damaging	Het
Pals2	C	T	6: 50,173,569 (GRCm39)	R478C	probably benign	Het
Pclo	T	A	5: 14,725,811 (GRCm39)	D1556E	unknown	Het
Phip	G	A	9: 82,753,356 (GRCm39)	S1796F	probably damaging	Het
Phtf1	T	C	3: 103,895,983 (GRCm39)	S226P	probably benign	Het
Rapgef6	C	A	11: 54,540,126 (GRCm39)	Q734K	probably damaging	Het
Scn9a	A	T	2: 66,314,279 (GRCm39)	I1802N	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Stab2	A	T	10: 86,684,038 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,970,301 (GRCm39)	I373V	probably benign	Het
Ttbk2	T	A	2: 120,590,750 (GRCm39)	D303V	probably damaging	Het
Ylpm1	T	C	12: 85,095,968 (GRCm39)	I1163T	probably damaging	Het

Other mutations in Col17a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06