Mutagenetix > Incidental Mutations

Incidental Mutation 'R0570:Col17a1'

46426

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

BP180, Bpag2, BPAg2, Bpag

MMRRC Submission

038761-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47646344-47692094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47665878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 647 (S647T)

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: S647T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: S647T

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: S647T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: S647T

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

0.0739

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,003,104		probably benign	Het
Aadacl3	C	T	4: 144,463,560	W57*	probably null	Het
Abca2	G	T	2: 25,447,405		probably null	Het
Abca3	A	G	17: 24,374,399	I257V	probably benign	Het
Adamts2	A	G	11: 50,776,136	D420G	probably damaging	Het
Adamts5	A	G	16: 85,899,247	F341L	probably damaging	Het
Ahnak	T	A	19: 9,013,698	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,840,451	S365P	possibly damaging	Het
Atrn	G	A	2: 130,980,134	V916I	probably benign	Het
Blmh	T	C	11: 76,965,825	V82A	probably damaging	Het
C1ra	A	T	6: 124,513,705	Y19F	probably benign	Het
Cactin	A	G	10: 81,323,233	E306G	probably damaging	Het
Celsr1	C	T	15: 85,903,365	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,925,349	E250G	probably benign	Het
Cope	T	A	8: 70,306,531	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,270,378	I198T	probably damaging	Het
Elfn2	T	C	15: 78,673,234	N371S	probably damaging	Het
Elmo2	G	T	2: 165,304,919	A246D	probably benign	Het
Ewsr1	A	T	11: 5,085,935	M187K	possibly damaging	Het
Faap100	A	T	11: 120,374,288	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,209,249	S85L	probably benign	Het
Fanca	A	T	8: 123,306,430	S292R	probably benign	Het
Fanci	G	A	7: 79,443,963	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,112,583	I1230T	probably benign	Het
Fmo5	T	C	3: 97,629,140	L27S	probably damaging	Het
Fmo9	A	G	1: 166,674,462	V147A	probably null	Het
Fnbp4	A	G	2: 90,752,957	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,759,562	T229A	probably benign	Het
Gapvd1	A	G	2: 34,728,540	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,017,675		probably null	Het
Gcn1l1	T	A	5: 115,592,421	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,625,649		probably benign	Het
Gtf2ird2	T	A	5: 134,208,944		probably null	Het
H2-Q1	A	G	17: 35,321,397	T153A	possibly damaging	Het
Ina	A	C	19: 47,023,499	E452A	probably benign	Het
Kars	A	G	8: 111,994,862		probably null	Het
Kif1c	A	G	11: 70,704,465	E124G	probably damaging	Het
Lpin3	T	C	2: 160,904,024		probably benign	Het
Lrp1	A	T	10: 127,555,009	C3006*	probably null	Het
Lyst	T	C	13: 13,709,386	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,929,572	A31V	probably benign	Het
Melk	T	C	4: 44,308,906	Y88H	probably damaging	Het
Myrf	A	G	19: 10,211,797	S857P	probably damaging	Het
Nos2	A	G	11: 78,935,361	I153M	possibly damaging	Het
Olfr732	T	G	14: 50,281,913	L113F	probably benign	Het
Otof	A	G	5: 30,371,881		probably benign	Het
Patl2	A	G	2: 122,125,308	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,412,180	Y19C	probably benign	Het
Pcnt	A	T	10: 76,412,107	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,638,657	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,077,703	M761L	probably benign	Het
Pi16	A	T	17: 29,319,215	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,455,605		probably benign	Het
Plcb2	A	G	2: 118,717,325	W474R	probably benign	Het
Psapl1	A	G	5: 36,204,280	D72G	possibly damaging	Het
Ptpn5	T	A	7: 47,078,933		probably benign	Het
Ptprg	A	G	14: 12,215,896	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,557,966	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,659,194	C168*	probably null	Het
Rhag	A	G	17: 40,828,913		probably benign	Het
Rhebl1	C	T	15: 98,881,153	V17I	probably benign	Het
Rnf130	A	T	11: 50,095,876	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,509,895	L60P	probably damaging	Het
Rspry1	T	C	8: 94,629,792	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,422,197	V421M	probably damaging	Het
Sap30	T	C	8: 57,482,966	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,503,978		probably benign	Het
Slc1a2	G	A	2: 102,756,007	V319M	probably damaging	Het
Smad2	T	C	18: 76,289,179		probably benign	Het
Spdya	T	C	17: 71,562,590		probably null	Het
Stk39	G	A	2: 68,410,048	T113M	probably damaging	Het
Tanc1	A	G	2: 59,796,038		probably benign	Het
Tas2r122	T	C	6: 132,711,811	K40E	probably damaging	Het
Tph2	G	T	10: 115,174,134		probably benign	Het
Trip12	G	A	1: 84,751,548	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,626,727	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,762,419	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,338,564	M142I	possibly damaging	Het
Uso1	T	C	5: 92,199,823	S766P	probably benign	Het
Usp21	G	A	1: 171,283,746		probably benign	Het
Usp48	T	A	4: 137,633,126	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,620,413	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,540,675	A807T	probably damaging	Het
Zfp329	A	T	7: 12,810,452	C382S	probably damaging	Het
Zfp341	A	G	2: 154,646,068	E817G	probably benign	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
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
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
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'- AAGTCACAGCCTGCTTCTCAGC -3'
(R):5'- ACCCAGCACGAAGATGGTGAAC -3'

Sequencing Primer
(F):5'- TCAGCACTGGATCAGATCCTG -3'
(R):5'- TACCCACAGGGTCACTCTGG -3'

Posted On

2013-06-11