Mutagenetix > Incidental Mutations

Incidental Mutation 'R6345:Col17a1'

514141

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

BP180, Bpag2, BPAg2, Bpag

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47646344-47692094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47653379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 944 (P944T)

Ref Sequence

ENSEMBL: ENSMUSP00000084141 (fasta)

Gene Model

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

AlphaFold

Q07563

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026045
AA Change: P944T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: P944T

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

possibly damaging
Transcript: ENSMUST00000086923
AA Change: P944T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: P944T

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,051	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,929,434	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266	R437G	probably damaging	Het
Atp9a	C	T	2: 168,676,173	S264N	probably damaging	Het
AY358078	A	C	14: 51,826,292	Y465S	probably damaging	Het
Bin3	G	A	14: 70,137,227	R235Q	probably benign	Het
Bsn	G	A	9: 108,107,355	P3167S	unknown	Het
Camk2g	G	A	14: 20,737,375	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,909,989		probably null	Het
Ccnjl	A	T	11: 43,585,338	T263S	probably benign	Het
Cyp2c39	A	T	19: 39,513,171		probably null	Het
Cyp2c39	G	T	19: 39,513,172		probably null	Het
Cyp4a32	T	C	4: 115,602,363	V98A	possibly damaging	Het
D430042O09Rik	C	A	7: 125,752,987	D26E	probably damaging	Het
Dnah9	A	G	11: 66,037,693	V2050A	probably damaging	Het
F5	A	G	1: 164,191,951	N665S	probably benign	Het
Fbxl6	A	T	15: 76,535,854	C520S	probably damaging	Het
Fscn2	C	A	11: 120,362,027	H107N	probably damaging	Het
Gfm2	C	T	13: 97,162,953	T367M	probably damaging	Het
Gle1	C	G	2: 29,936,115	P69A	probably benign	Het
Gpr156	A	T	16: 37,987,519	D176V	probably damaging	Het
Grip2	A	G	6: 91,765,388	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,841,638	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,594,170	R296*	probably null	Het
Ighv1-39	C	T	12: 114,914,859	V31M	possibly damaging	Het
Itgav	A	G	2: 83,802,036	E956G	probably damaging	Het
Lsm8	A	G	6: 18,853,645	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,715,239	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,817,468	I216N	possibly damaging	Het
Muc16	G	A	9: 18,654,926	T2099I	unknown	Het
Myh7	T	C	14: 54,983,692	R925G	probably damaging	Het
Myo1h	T	A	5: 114,351,708	I658N	probably damaging	Het
Myo5a	A	T	9: 75,189,913	D81V	possibly damaging	Het
Nell1	G	A	7: 49,975,423	C12Y	possibly damaging	Het
Obscn	T	C	11: 59,053,696	Y4724C	probably damaging	Het
Olfr1055	A	G	2: 86,347,548	Y73H	probably damaging	Het
Pah	G	A	10: 87,576,187	D315N	probably damaging	Het
Per2	A	G	1: 91,448,722	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,100,299	V38A	probably benign	Het
Pld1	A	G	3: 28,130,747		probably benign	Het
Plekhh2	A	G	17: 84,575,787	N761S	probably benign	Het
Polh	T	C	17: 46,182,738	I318V	probably benign	Het
Prex1	T	C	2: 166,572,960	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,263,257	S1440T	probably benign	Het
Rbm19	G	T	5: 120,127,040	W382L	possibly damaging	Het
Rchy1	T	C	5: 91,957,942	D49G	probably benign	Het
Ric1	A	G	19: 29,604,085	D1402G	probably benign	Het
S1pr3	G	T	13: 51,419,031	A83S	probably damaging	Het
S1pr3	C	A	13: 51,419,032	A83D	probably damaging	Het
Selplg	G	A	5: 113,820,149	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,149,995	R355G	probably damaging	Het
Slx4	G	C	16: 3,990,850	Q409E	probably benign	Het
Sntg1	A	C	1: 8,583,284	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,248,488	D682Y	probably damaging	Het
Spen	C	T	4: 141,471,633	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,628,200	E69G	probably damaging	Het
Tasp1	C	A	2: 139,951,537	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,034,608	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,776,882	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,251,922	M718T	probably 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
fleabitten	UTSW	19	47668105	nonsense	probably null
scabby	UTSW	19	47680408	nonsense	probably null
testimony	UTSW	19	47655190	critical splice donor site	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
R2024:Col17a1	UTSW	19	47650746	missense	probably benign	0.02
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
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
R7662:Col17a1	UTSW	19	47681501	missense	probably benign	0.04
R7726:Col17a1	UTSW	19	47655190	critical splice donor site	probably null
R7957:Col17a1	UTSW	19	47661117	missense	probably damaging	1.00
R8677:Col17a1	UTSW	19	47651801	missense	probably benign	0.14
R8720:Col17a1	UTSW	19	47649092	critical splice acceptor site	probably benign
R8877:Col17a1	UTSW	19	47648758	missense	unknown
R9017:Col17a1	UTSW	19	47669459	missense	probably benign	0.00
R9057:Col17a1	UTSW	19	47649083	missense	probably damaging	0.96
R9231:Col17a1	UTSW	19	47679422	nonsense	probably null
Z1088:Col17a1	UTSW	19	47652178	missense	possibly damaging	0.85
Z1176:Col17a1	UTSW	19	47649429	small deletion	probably benign
Z1177:Col17a1	UTSW	19	47650304	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TCAATCAGGTGGACACTGTTGAC -3'
(R):5'- TCTGACCATGCAGACACCTG -3'

Sequencing Primer
(F):5'- GTTGACAGTCCCTGACCAC -3'
(R):5'- GCACACACATCCTTACAGATCCATG -3'

Posted On

2018-04-27