Mutagenetix > Incidental Mutation

Incidental Mutation 'R9714:Col17a1'

730369

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

Bpag2, BP180, BPAg2, Bpag

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47634783-47680460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47636634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1374 (V1374I)

Ref Sequence

ENSEMBL: ENSMUSP00000026045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026043] [ENSMUST00000026045] [ENSMUST00000086923]

AlphaFold

Q07563

Predicted Effect

probably benign
Transcript: ENSMUST00000026043

SMART Domains

Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060

Domain	Start	End	E-Value	Type
S_TKc	34	292	3.18e-99	SMART
low complexity region	305	328	N/A	INTRINSIC
low complexity region	442	452	N/A	INTRINSIC
low complexity region	585	600	N/A	INTRINSIC
low complexity region	690	703	N/A	INTRINSIC
low complexity region	783	795	N/A	INTRINSIC
Pfam:PKK	849	928	1.2e-19	PFAM
Pfam:PKK	986	1127	7.4e-49	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000026045
AA Change: V1374I

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: V1374I

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

unknown
Transcript: ENSMUST00000086923
AA Change: V1337I

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: V1337I

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	C	7: 120,030,383 (GRCm39)	D165A	probably benign	Het
Abca3	T	A	17: 24,595,702 (GRCm39)	C352S	probably benign	Het
AC157566.4	T	C	15: 76,418,354 (GRCm39)	T52A	probably benign	Het
Cd19	T	C	7: 126,010,230 (GRCm39)	I381V	probably benign	Het
Crb2	G	A	2: 37,681,215 (GRCm39)	G686D	probably damaging	Het
Dok1	A	G	6: 83,008,275 (GRCm39)	V469A	probably benign	Het
Glg1	A	G	8: 111,924,301 (GRCm39)	L229S	probably damaging	Het
Hsd3b6	A	G	3: 98,713,645 (GRCm39)	F218S	probably benign	Het
Kif1c	T	C	11: 70,615,660 (GRCm39)	V588A	probably benign	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Med13l	T	A	5: 118,866,438 (GRCm39)	D497E	probably benign	Het
Mms19	A	G	19: 41,935,410 (GRCm39)	F869L	possibly damaging	Het
Myo19	A	G	11: 84,773,542 (GRCm39)	M1V	probably null	Het
Notum	T	C	11: 120,551,019 (GRCm39)	E49G	probably benign	Het
Nup153	G	A	13: 46,866,435 (GRCm39)	T203I	possibly damaging	Het
Parvb	G	T	15: 84,167,041 (GRCm39)	G119C	probably damaging	Het
Pcdh10	G	A	3: 45,336,010 (GRCm39)	A775T	probably damaging	Het
Pla2g4f	C	T	2: 120,142,900 (GRCm39)	R70Q	probably benign	Het
Plxna1	A	T	6: 89,296,440 (GRCm39)	L1868Q	probably damaging	Het
Pmm2	T	C	16: 8,473,506 (GRCm39)	L240P	probably damaging	Het
Ptprc	T	A	1: 138,008,687 (GRCm39)	T667S	probably damaging	Het
Rsad1	A	G	11: 94,435,298 (GRCm39)	V263A	probably benign	Het
Sardh	C	T	2: 27,079,641 (GRCm39)	V884M	possibly damaging	Het
Slc35a5	T	C	16: 44,964,426 (GRCm39)	E269G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,781 (GRCm39)		probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Taf11	T	C	17: 28,122,136 (GRCm39)	E116G	probably damaging	Het
Tbc1d10a	G	T	11: 4,163,683 (GRCm39)	A312S	probably damaging	Het
Tiam1	T	A	16: 89,694,647 (GRCm39)	H270L	probably benign	Het
Vmn2r31	T	A	7: 7,387,367 (GRCm39)	I735F	probably damaging	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		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
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
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'- CGGGGAGAAGATCATTACGTTG -3'
(R):5'- TACCCGAGGACTGTCACAAC -3'

Sequencing Primer
(F):5'- GGTGTTTGTATGCCAGGCCC -3'
(R):5'- AACAGGTCAGCCCAGTCTG -3'

Posted On

2022-10-06