Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Col17a1'

200782

Institutional Source

Beutler Lab

Gene Symbol

Col17a1

Ensembl Gene

ENSMUSG00000025064

Gene Name

collagen, type XVII, alpha 1

Synonyms

BP180, Bpag2, BPAg2, Bpag

MMRRC Submission

039409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1344 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

47646344-47692094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47671505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 336 (D336V)

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: D336V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: D336V

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: D336V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: D336V

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

0.3454

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,179,151		probably benign	Het
Aco1	T	C	4: 40,179,008	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,804	W832R	probably damaging	Het
Asxl2	A	G	12: 3,493,790	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,935,705		probably null	Het
B4galnt2	A	C	11: 95,869,355	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,876,327	I191T	probably benign	Het
Cd101	A	T	3: 101,018,775	Y209*	probably null	Het
Cd109	A	T	9: 78,672,550		probably null	Het
Cdc34	G	A	10: 79,685,300	A128T	probably damaging	Het
Cdk12	T	A	11: 98,241,785	S1013R	unknown	Het
Cntd1	T	A	11: 101,285,740	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,344,870		probably null	Het
Col12a1	T	A	9: 79,699,555	K529*	probably null	Het
Creb3l4	A	G	3: 90,238,738	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,405,905		probably null	Het
Dcun1d3	A	G	7: 119,857,935	F185L	probably damaging	Het
Dlec1	G	A	9: 119,130,017	E910K	probably benign	Het
Dnajc19	T	A	3: 34,058,012	N128I	probably damaging	Het
Dusp1	A	G	17: 26,508,319	V2A	probably benign	Het
Eea1	G	A	10: 95,994,999		probably null	Het
Elf1	T	C	14: 79,560,775	V34A	probably damaging	Het
Extl1	T	C	4: 134,359,241	D501G	probably damaging	Het
Fam160b1	G	A	19: 57,371,162	A45T	possibly damaging	Het
Fam198a	A	T	9: 121,978,386	H532L	probably damaging	Het
Fcgr2b	T	C	1: 170,961,081	Y319C	probably damaging	Het
Fxr2	A	G	11: 69,648,884	H247R	possibly damaging	Het
Gfra1	A	C	19: 58,238,417	S461A	possibly damaging	Het
Gli2	T	G	1: 118,841,936	I629L	probably damaging	Het
Gm21671	T	A	5: 25,953,109	T82S	probably benign	Het
Gm6614	A	G	6: 141,985,618	S474P	probably damaging	Het
Gpx3	G	A	11: 54,909,596	V207I	probably damaging	Het
Helz2	T	C	2: 181,237,596	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,409,005		probably null	Het
Ifitm1	C	T	7: 140,968,350	T32M	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Lrit2	A	G	14: 37,068,556	N64S	probably benign	Het
Lsm14a	A	T	7: 34,353,557	D322E	probably damaging	Het
Macf1	T	G	4: 123,433,453	R4752S	probably damaging	Het
Mark3	T	C	12: 111,627,837	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,308,319	T1360S	probably benign	Het
Mtif2	G	A	11: 29,545,002	V701I	probably benign	Het
Myh3	A	G	11: 67,092,332	E895G	probably benign	Het
Ncan	A	C	8: 70,108,169	I716R	probably benign	Het
Ncor2	C	T	5: 125,025,446	R1867K	probably damaging	Het
Oas1d	C	T	5: 120,914,896	L5F	probably damaging	Het
Olfr399	A	T	11: 74,054,212	C182*	probably null	Het
Olfr45	T	C	7: 140,691,799	V298A	probably damaging	Het
Olfr747	T	A	14: 50,680,858	M259L	probably benign	Het
Olfr982	T	A	9: 40,074,472	L59H	probably damaging	Het
Otog	G	T	7: 46,274,615	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,295,657	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,130,077	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,361,767	I27V	probably benign	Het
Pde4d	C	A	13: 109,950,387	S609*	probably null	Het
Piezo2	T	A	18: 63,021,254	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,692,885	T3A	probably benign	Het
Plscr1	C	T	9: 92,259,304	T15I	unknown	Het
Rd3	T	C	1: 191,985,301	*106R	probably null	Het
Rnf125	A	G	18: 20,981,231	I97V	possibly damaging	Het
Sec24b	T	C	3: 130,007,423	N408S	probably damaging	Het
Sf3b3	G	C	8: 110,838,303	A291G	probably damaging	Het
Simc1	T	C	13: 54,550,479	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slitrk5	A	G	14: 111,680,389	S482G	probably benign	Het
Smyd1	G	A	6: 71,262,167	T13I	probably benign	Het
Stoml2	T	A	4: 43,028,197	I344F	probably benign	Het
Tet1	C	T	10: 62,814,521	R1636H	probably damaging	Het
Thap12	A	G	7: 98,716,830	D735G	probably damaging	Het
Tnip3	T	C	6: 65,597,429	V88A	probably benign	Het
Ttn	A	G	2: 76,735,411	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,418,575	F989S	probably damaging	Het
Ubox5	A	G	2: 130,600,290	L159P	probably damaging	Het
Uevld	A	T	7: 46,938,010	V314E	possibly damaging	Het
Uhrf1bp1	A	G	17: 27,894,577	K1241R	probably benign	Het
Urb1	T	C	16: 90,769,466	M1478V	probably damaging	Het
Ust	C	A	10: 8,298,190	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,588,098	C421Y	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
idaho	UTSW	19	47679422	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
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
R9714:Col17a1	UTSW	19	47648195	missense	unknown
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'- AGTGGAATCCCCGTGATTTGATGAC -3'
(R):5'- ACATGTAGGGAGACAGCCCCATAG -3'

Sequencing Primer
(F):5'- CACACCTTATAGAAGTCTTGGGC -3'
(R):5'- CATCACTGTCTAAGAGACCAGG -3'

Posted On

2014-05-23