Mutagenetix > Incidental Mutation

Incidental Mutation 'R7565:Col17a1'

585420

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

Bpag2, BP180, BPAg2, Bpag

MMRRC Submission

045710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7565 (G1)

Quality Score

110.008

Status

Not validated

Chromosome

Chromosomal Location

47634783-47680460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47659963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 330 (T330S)

Ref Sequence

ENSEMBL: ENSMUSP00000026045 (fasta)

Gene Model

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

AlphaFold

Q07563

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026045
AA Change: T330S

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: T330S

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: T330S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: T330S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,750 (GRCm39)	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,836,596 (GRCm39)	I421N	probably benign	Het
Ahnak	A	G	19: 8,993,520 (GRCm39)	I4935V	probably benign	Het
Atg12	A	C	18: 46,867,551 (GRCm39)	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bcl3	C	T	7: 19,546,419 (GRCm39)	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,905,689 (GRCm39)	M101L	probably benign	Het
Bmp6	C	T	13: 38,530,233 (GRCm39)	Q109*	probably null	Het
Cabyr	C	T	18: 12,877,656 (GRCm39)	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,932,538 (GRCm39)	S22P	probably benign	Het
Catsperg2	A	T	7: 29,412,406 (GRCm39)	C395S	probably null	Het
Cd101	T	C	3: 100,926,108 (GRCm39)	T208A	probably benign	Het
Chaf1a	A	G	17: 56,371,148 (GRCm39)	S678G	probably benign	Het
Chrna2	A	C	14: 66,388,484 (GRCm39)	I500L	probably benign	Het
Cln6	C	T	9: 62,758,039 (GRCm39)	T266I	possibly damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah10	A	G	5: 124,876,095 (GRCm39)	N2645D	probably damaging	Het
Dph5	T	A	3: 115,686,446 (GRCm39)	V74D	probably benign	Het
Dthd1	A	T	5: 63,000,435 (GRCm39)	I586L	probably damaging	Het
Elane	G	A	10: 79,722,879 (GRCm39)	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,587,398 (GRCm39)	T453A	probably damaging	Het
Fpr3	C	A	17: 18,191,227 (GRCm39)	T166K	probably damaging	Het
Fryl	A	G	5: 73,191,063 (GRCm39)	I2724T	probably benign	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gm14496	A	G	2: 181,642,630 (GRCm39)	N767S	probably damaging	Het
Gm14496	T	A	2: 181,633,050 (GRCm39)	F11Y	possibly damaging	Het
Hyal4	T	A	6: 24,765,933 (GRCm39)	M429K	possibly damaging	Het
Itgad	A	T	7: 127,782,187 (GRCm39)	T208S	probably damaging	Het
Itpr3	T	G	17: 27,329,862 (GRCm39)	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,186 (GRCm39)	C292Y	probably damaging	Het
Kdr	T	C	5: 76,109,503 (GRCm39)	K958R	probably damaging	Het
Klhl22	T	A	16: 17,607,148 (GRCm39)	W485R	probably damaging	Het
Ldhb	T	A	6: 142,438,245 (GRCm39)	I271F	possibly damaging	Het
Lmo7	A	G	14: 102,122,737 (GRCm39)	R309G	probably damaging	Het
Marco	C	A	1: 120,402,395 (GRCm39)	C517F	probably damaging	Het
Mpdz	G	A	4: 81,221,891 (GRCm39)	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,218,600 (GRCm39)	S1410G	probably benign	Het
Ncor1	T	C	11: 62,292,091 (GRCm39)	N283S	probably damaging	Het
Nlrp14	T	A	7: 106,781,094 (GRCm39)	L97*	probably null	Het
Olfm3	T	G	3: 114,916,393 (GRCm39)	S442A	probably damaging	Het
Or10p1	A	G	10: 129,444,029 (GRCm39)	V107A	possibly damaging	Het
Or14j10	T	C	17: 37,935,392 (GRCm39)	I45V	probably damaging	Het
Or2ag12	T	C	7: 106,277,333 (GRCm39)	Y120C	probably damaging	Het
Or5a1	T	A	19: 12,097,375 (GRCm39)	S234C	probably benign	Het
Or5an10	T	C	19: 12,276,212 (GRCm39)	T95A	probably benign	Het
Pank4	G	A	4: 155,065,007 (GRCm39)	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,216,336 (GRCm39)	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,104,501 (GRCm39)	S911N	probably benign	Het
Prdx6b	A	G	2: 80,123,334 (GRCm39)	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,432,870 (GRCm39)	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,078,987 (GRCm39)	D9G		Het
Rpl13a	C	T	7: 44,776,466 (GRCm39)	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rttn	C	A	18: 89,078,603 (GRCm39)	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,575,539 (GRCm39)	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,938,891 (GRCm39)	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,305,813 (GRCm39)	V277M	probably damaging	Het
Spata13	A	T	14: 60,989,298 (GRCm39)	Y988F	probably damaging	Het
Spata31e2	A	T	1: 26,724,351 (GRCm39)	N276K	probably benign	Het
Spo11	A	G	2: 172,833,864 (GRCm39)	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,422,998 (GRCm39)	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,744,029 (GRCm39)	W659*	probably null	Het
Thnsl2	T	C	6: 71,118,311 (GRCm39)	D39G	probably benign	Het
Thumpd1	A	T	7: 119,316,085 (GRCm39)	L288*	probably null	Het
Tram1l1	T	C	3: 124,115,556 (GRCm39)	Y239H	probably damaging	Het
Usp38	T	A	8: 81,708,601 (GRCm39)	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790 (GRCm39)	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,320,830 (GRCm39)	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,214,499 (GRCm39)	I218V	probably benign	Het
Xpr1	T	C	1: 155,183,488 (GRCm39)	I461V	probably benign	Het
Ydjc	T	C	16: 16,964,869 (GRCm39)	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,050,232 (GRCm39)	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,455,426 (GRCm39)	L1140P	probably benign	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
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
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'- GGCCTCCTGTACTTATGAAGCC -3'
(R):5'- GTCTACATGTAGGGAGACAGC -3'

Sequencing Primer
(F):5'- ATGCTACCCGCTCCACCTG -3'
(R):5'- CATACACACTGGTGAACC -3'

Posted On

2019-10-17