Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Col7a1'

663854

Institutional Source

Beutler Lab

Gene Symbol

Col7a1

Ensembl Gene

ENSMUSG00000025650

Gene Name

collagen, type VII, alpha 1

Synonyms

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108953586-108984875 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108967662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1623 (P1623S)

Ref Sequence

ENSEMBL: ENSMUSP00000026740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026740] [ENSMUST00000112070]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026740
AA Change: P1623S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650
AA Change: P1623S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
VWA	37	217	1.56e-51	SMART
FN3	233	319	1.41e-10	SMART
FN3	325	405	6.54e-6	SMART
FN3	416	494	6.91e-5	SMART
FN3	509	585	1.24e-6	SMART
FN3	599	675	2.01e-6	SMART
FN3	687	763	7.45e-10	SMART
FN3	774	854	6.01e-5	SMART
FN3	865	944	7.23e-8	SMART
FN3	955	1038	2.16e-6	SMART
Pfam:VWA	1055	1227	2.3e-22	PFAM
Pfam:Collagen	1244	1311	2.4e-8	PFAM
Pfam:Collagen	1294	1355	4.1e-10	PFAM
low complexity region	1397	1414	N/A	INTRINSIC
Pfam:Collagen	1447	1504	1.3e-9	PFAM
Pfam:Collagen	1487	1547	5e-8	PFAM
low complexity region	1572	1595	N/A	INTRINSIC
low complexity region	1604	1632	N/A	INTRINSIC
Pfam:Collagen	1646	1714	2.8e-10	PFAM
Pfam:Collagen	1713	1775	1.9e-10	PFAM
low complexity region	1776	1794	N/A	INTRINSIC
low complexity region	1803	1833	N/A	INTRINSIC
Pfam:Collagen	1875	1935	1.5e-8	PFAM
Pfam:Collagen	1969	2033	2.4e-9	PFAM
Pfam:Collagen	2025	2092	9.1e-10	PFAM
Pfam:Collagen	2089	2158	1.3e-10	PFAM
Pfam:Collagen	2147	2209	1.6e-9	PFAM
Pfam:Collagen	2245	2312	1.4e-8	PFAM
Pfam:Collagen	2313	2365	2.5e-8	PFAM
Pfam:Collagen	2364	2423	7.3e-10	PFAM
Pfam:Collagen	2398	2457	1.5e-9	PFAM
Pfam:Collagen	2456	2515	8.4e-11	PFAM
Pfam:Collagen	2516	2572	1.9e-9	PFAM
Pfam:Collagen	2560	2630	7.2e-9	PFAM
Pfam:Collagen	2605	2682	6e-9	PFAM
Pfam:Collagen	2659	2722	2e-8	PFAM
low complexity region	2745	2775	N/A	INTRINSIC
Pfam:Kunitz_BPTI	2878	2932	3.2e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112070
AA Change: P1623S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650
AA Change: P1623S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
VWA	37	217	1.56e-51	SMART
FN3	233	319	1.41e-10	SMART
FN3	325	405	6.54e-6	SMART
FN3	416	494	6.91e-5	SMART
FN3	509	585	1.24e-6	SMART
FN3	599	675	2.01e-6	SMART
FN3	687	763	7.45e-10	SMART
FN3	774	854	6.01e-5	SMART
FN3	865	944	7.23e-8	SMART
FN3	955	1038	2.16e-6	SMART
Pfam:VWA	1055	1230	2.2e-19	PFAM
Pfam:Collagen	1244	1311	2.5e-8	PFAM
Pfam:Collagen	1294	1355	4.2e-10	PFAM
low complexity region	1397	1414	N/A	INTRINSIC
Pfam:Collagen	1447	1504	1.3e-9	PFAM
Pfam:Collagen	1487	1547	5.1e-8	PFAM
low complexity region	1572	1595	N/A	INTRINSIC
low complexity region	1604	1632	N/A	INTRINSIC
Pfam:Collagen	1646	1714	2.9e-10	PFAM
Pfam:Collagen	1713	1775	1.9e-10	PFAM
low complexity region	1776	1794	N/A	INTRINSIC
low complexity region	1803	1833	N/A	INTRINSIC
Pfam:Collagen	1875	1935	1.5e-8	PFAM
Pfam:Collagen	1969	2033	2.5e-9	PFAM
Pfam:Collagen	2025	2092	9.4e-10	PFAM
Pfam:Collagen	2089	2158	1.3e-10	PFAM
Pfam:Collagen	2147	2209	1.6e-9	PFAM
Pfam:Collagen	2195	2266	7.7e-7	PFAM
Pfam:Collagen	2245	2312	1.4e-8	PFAM
Pfam:Collagen	2313	2365	2.6e-8	PFAM
Pfam:Collagen	2364	2423	7.6e-10	PFAM
Pfam:Collagen	2398	2457	1.5e-9	PFAM
Pfam:Collagen	2456	2515	8.7e-11	PFAM
Pfam:Collagen	2516	2572	2e-9	PFAM
Pfam:Collagen	2560	2630	7.4e-9	PFAM
Pfam:Collagen	2605	2682	6.2e-9	PFAM
Pfam:Collagen	2659	2722	2.1e-8	PFAM
Pfam:Collagen	2719	2778	1.6e-7	PFAM
Pfam:Kunitz_BPTI	2878	2932	1.1e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,727	I278N	probably damaging	Het
Adcy9	A	G	16: 4,311,628	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,437,683	V468I	possibly damaging	Het
Ahnak	A	C	19: 9,010,145	K2931T	probably damaging	Het
Ank3	C	T	10: 69,926,019		probably benign	Het
Birc6	G	A	17: 74,648,140	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,165,512	I125L	probably benign	Het
Catsperg2	T	C	7: 29,705,319	D773G	possibly damaging	Het
Ccm2l	A	T	2: 153,067,775	I16F	probably benign	Het
Cep72	G	A	13: 74,050,184	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,947,274	N844S	unknown	Het
Crybg1	T	C	10: 44,004,842	K117E	probably benign	Het
Csmd3	A	G	15: 47,982,006	C54R		Het
Dlg1	A	G	16: 31,781,830	T211A	probably benign	Het
Emc1	C	A	4: 139,369,968	H724N	possibly damaging	Het
Epg5	A	C	18: 77,965,008	N784H	probably benign	Het
Epg5	A	T	18: 77,965,009	N784I	possibly damaging	Het
Epg5	T	A	18: 77,965,010	N784K	probably benign	Het
Erc2	A	G	14: 28,080,188	E771G	possibly damaging	Het
Exo1	T	C	1: 175,892,112	V241A	probably benign	Het
Fat4	A	G	3: 38,891,853	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,002,062	M529K	probably damaging	Het
Fhad1	T	C	4: 141,918,823	E276G	probably benign	Het
Frem1	G	A	4: 82,970,778	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,678,066	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,081,251	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,566,678	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,822,137	Y516F	unknown	Het
Hdac5	A	T	11: 102,218,454	I38N	probably benign	Het
Hectd4	T	A	5: 121,363,775	C4190*	probably null	Het
Helb	A	T	10: 120,089,507	D988E	probably benign	Het
Herc6	C	T	6: 57,662,374	S909L	probably damaging	Het
Ice1	A	T	13: 70,602,891	V1692E	probably damaging	Het
Ino80	A	G	2: 119,406,908	Y1107H	probably benign	Het
Kif9	A	T	9: 110,501,656	Y350F	probably benign	Het
Lct	T	A	1: 128,293,797	T1570S	probably benign	Het
Lias	T	A	5: 65,399,850	N203K	probably benign	Het
Lrrtm4	A	G	6: 80,022,109	N168S	probably damaging	Het
Ltf	A	T	9: 111,031,124	K538*	probably null	Het
Lysmd4	A	G	7: 67,226,039	D150G	probably benign	Het
Magi2	A	G	5: 20,534,464	D572G	probably benign	Het
Meiob	T	C	17: 24,828,034		probably null	Het
Mettl11b	T	A	1: 163,717,169	T82S	probably benign	Het
Ncor2	T	C	5: 125,038,900	Y130C		Het
Ofcc1	A	G	13: 40,255,596	S118P	probably benign	Het
Olfr1512	A	G	14: 52,372,963	F30S	probably benign	Het
Olfr315	A	G	11: 58,778,387	T87A	probably benign	Het
Olfr922	T	A	9: 38,816,039	C179S	probably damaging	Het
Parp14	A	T	16: 35,856,811	M929K	probably benign	Het
Pcdh8	T	C	14: 79,768,789	E778G	probably benign	Het
Pgls	T	C	8: 71,595,194	V211A	probably benign	Het
Pkd2	T	A	5: 104,489,285	M588K	probably damaging	Het
Pms1	T	C	1: 53,192,110	N860S	probably benign	Het
Psg19	C	T	7: 18,796,963	V89M	probably benign	Het
Reln	T	C	5: 21,942,674	H2426R	probably benign	Het
Ripor2	T	A	13: 24,701,067	N428K	possibly damaging	Het
Slc12a4	C	T	8: 105,949,653		probably null	Het
Slc25a3	T	C	10: 91,117,098	I314V	probably benign	Het
Slc29a1	C	A	17: 45,589,762	V125F	probably benign	Het
Slc9a5	T	A	8: 105,359,349	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,660,052	Q691*	probably null	Het
Smg7	T	C	1: 152,843,378	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,637	K132*	probably null	Het
Tap1	A	G	17: 34,193,159	K446R	probably benign	Het
Tcam1	A	T	11: 106,285,617	T390S	possibly damaging	Het
Tnik	A	G	3: 28,611,908	N687D	probably damaging	Het
Trim42	T	C	9: 97,369,799	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,926,467	T109A	probably benign	Het
Vmn2r67	C	T	7: 85,152,242	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 18,823,759	T366A	probably benign	Het
Zfp804a	A	G	2: 82,235,846	K54E	probably damaging	Het

Other mutations in Col7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Col7a1	APN	9	108977697	nonsense	probably null
IGL01366:Col7a1	APN	9	108977119	splice site	probably benign
IGL01395:Col7a1	APN	9	108983912	unclassified	probably benign
IGL01410:Col7a1	APN	9	108964618	missense	unknown
IGL01902:Col7a1	APN	9	108977827	missense	unknown
IGL01915:Col7a1	APN	9	108955745	missense	unknown
IGL01936:Col7a1	APN	9	108967999	splice site	probably benign
IGL01943:Col7a1	APN	9	108984016	critical splice acceptor site	probably null
IGL02026:Col7a1	APN	9	108968029	missense	probably damaging	1.00
IGL02168:Col7a1	APN	9	108984075	unclassified	probably benign
IGL02504:Col7a1	APN	9	108980675	missense	unknown
IGL02510:Col7a1	APN	9	108973231	splice site	probably benign
IGL02559:Col7a1	APN	9	108973216	missense	unknown
IGL02583:Col7a1	APN	9	108962229	missense	unknown
IGL02728:Col7a1	APN	9	108984104	missense	probably benign	0.39
IGL03003:Col7a1	APN	9	108974956	critical splice donor site	probably null
IGL03096:Col7a1	APN	9	108955788	missense	unknown
IGL03122:Col7a1	APN	9	108961683	missense	unknown
IGL03212:Col7a1	APN	9	108974452	missense	unknown
IGL03240:Col7a1	APN	9	108968373	missense	probably null	1.00
IGL03355:Col7a1	APN	9	108978160	missense	unknown
olivetti	UTSW	9	108969961	missense	probably damaging	1.00
smallified	UTSW	9	108972813	critical splice donor site	probably null
underwood	UTSW	9	108968875	critical splice acceptor site	probably null
PIT4131001:Col7a1	UTSW	9	108965921	splice site	probably benign
R0007:Col7a1	UTSW	9	108961403	missense	unknown
R0007:Col7a1	UTSW	9	108961403	missense	unknown
R0078:Col7a1	UTSW	9	108974913	splice site	probably benign
R0091:Col7a1	UTSW	9	108967506	splice site	probably benign
R0126:Col7a1	UTSW	9	108969583	splice site	probably benign
R0244:Col7a1	UTSW	9	108972184	splice site	probably null
R0331:Col7a1	UTSW	9	108967502	splice site	probably benign
R0375:Col7a1	UTSW	9	108980237	missense	unknown
R0601:Col7a1	UTSW	9	108980584	splice site	probably benign
R0609:Col7a1	UTSW	9	108958147	missense	unknown
R0709:Col7a1	UTSW	9	108961548	splice site	probably benign
R0879:Col7a1	UTSW	9	108976091	splice site	probably benign
R1175:Col7a1	UTSW	9	108955334	missense	unknown
R1177:Col7a1	UTSW	9	108962441	missense	unknown
R1435:Col7a1	UTSW	9	108963273	missense	unknown
R1497:Col7a1	UTSW	9	108978825	missense	unknown
R1549:Col7a1	UTSW	9	108955966	missense	unknown
R1794:Col7a1	UTSW	9	108965928	missense	unknown
R1801:Col7a1	UTSW	9	108960997	missense	unknown
R1848:Col7a1	UTSW	9	108969565	missense	possibly damaging	0.83
R1899:Col7a1	UTSW	9	108978888	missense	unknown
R1944:Col7a1	UTSW	9	108960010	missense	unknown
R1945:Col7a1	UTSW	9	108960010	missense	unknown
R1955:Col7a1	UTSW	9	108955664	missense	unknown
R2009:Col7a1	UTSW	9	108968875	critical splice acceptor site	probably null
R2034:Col7a1	UTSW	9	108963007	missense	unknown
R3148:Col7a1	UTSW	9	108961405	missense	unknown
R3713:Col7a1	UTSW	9	108964440	nonsense	probably null
R4078:Col7a1	UTSW	9	108960991	missense	unknown
R4193:Col7a1	UTSW	9	108956672	missense	unknown
R4232:Col7a1	UTSW	9	108972813	critical splice donor site	probably null
R4528:Col7a1	UTSW	9	108959533	missense	unknown
R4771:Col7a1	UTSW	9	108971925	missense	probably damaging	0.99
R4820:Col7a1	UTSW	9	108968607	missense	possibly damaging	0.72
R4896:Col7a1	UTSW	9	108957277	missense	unknown
R4911:Col7a1	UTSW	9	108975219	missense	unknown
R4915:Col7a1	UTSW	9	108966464	missense	unknown
R4917:Col7a1	UTSW	9	108966464	missense	unknown
R5001:Col7a1	UTSW	9	108965078	critical splice donor site	probably null
R5352:Col7a1	UTSW	9	108961411	missense	unknown
R5361:Col7a1	UTSW	9	108963224	missense	unknown
R5730:Col7a1	UTSW	9	108972242	critical splice donor site	probably null
R5838:Col7a1	UTSW	9	108978143	missense	unknown
R5842:Col7a1	UTSW	9	108965815	missense	unknown
R5932:Col7a1	UTSW	9	108980211	missense	unknown
R6091:Col7a1	UTSW	9	108955334	missense	unknown
R6144:Col7a1	UTSW	9	108974080	missense	unknown
R6158:Col7a1	UTSW	9	108964603	missense	unknown
R6170:Col7a1	UTSW	9	108966443	missense	unknown
R6247:Col7a1	UTSW	9	108981062	unclassified	probably benign
R6338:Col7a1	UTSW	9	108956633	missense	unknown
R6339:Col7a1	UTSW	9	108956633	missense	unknown
R6382:Col7a1	UTSW	9	108975393	missense	unknown
R6518:Col7a1	UTSW	9	108955527	missense	unknown
R6533:Col7a1	UTSW	9	108961358	missense	unknown
R6569:Col7a1	UTSW	9	108978110	splice site	probably null
R6596:Col7a1	UTSW	9	108954341	unclassified	probably benign
R6697:Col7a1	UTSW	9	108970533	missense	probably damaging	1.00
R6753:Col7a1	UTSW	9	108958128	missense	unknown
R6849:Col7a1	UTSW	9	108975053	missense	unknown
R6915:Col7a1	UTSW	9	108967618	missense	probably benign	0.02
R6974:Col7a1	UTSW	9	108969426	missense	possibly damaging	0.82
R6991:Col7a1	UTSW	9	108983919	critical splice donor site	probably null
R7028:Col7a1	UTSW	9	108963263	nonsense	probably null
R7556:Col7a1	UTSW	9	108982465	splice site	probably null
R7571:Col7a1	UTSW	9	108982707	missense	probably null
R7815:Col7a1	UTSW	9	108969565	missense	probably damaging	0.96
R7875:Col7a1	UTSW	9	108958695	missense	unknown
R7931:Col7a1	UTSW	9	108980522	splice site	probably benign
R8016:Col7a1	UTSW	9	108958644	missense	unknown
R8038:Col7a1	UTSW	9	108957292	missense	unknown
R8049:Col7a1	UTSW	9	108975563	missense	unknown
R8098:Col7a1	UTSW	9	108956695	missense	unknown
R8103:Col7a1	UTSW	9	108975384	missense	unknown
R8128:Col7a1	UTSW	9	108955721	missense	unknown
R8268:Col7a1	UTSW	9	108972989	missense	unknown
R8274:Col7a1	UTSW	9	108969961	missense	probably damaging	1.00
R8318:Col7a1	UTSW	9	108958374	missense	unknown
R8824:Col7a1	UTSW	9	108967025	missense	unknown
R9148:Col7a1	UTSW	9	108960206	missense	unknown
R9170:Col7a1	UTSW	9	108956639	missense	unknown
R9171:Col7a1	UTSW	9	108978885	missense	unknown
R9236:Col7a1	UTSW	9	108960616	missense	unknown
R9287:Col7a1	UTSW	9	108958389	missense	unknown
R9378:Col7a1	UTSW	9	108958640	nonsense	probably null
R9443:Col7a1	UTSW	9	108955991	missense	unknown
R9486:Col7a1	UTSW	9	108982328	missense	unknown
R9537:Col7a1	UTSW	9	108955352	nonsense	probably null
R9559:Col7a1	UTSW	9	108957292	missense	unknown
R9563:Col7a1	UTSW	9	108962741	missense	unknown
R9565:Col7a1	UTSW	9	108962741	missense	unknown
R9578:Col7a1	UTSW	9	108960282	missense	unknown
R9664:Col7a1	UTSW	9	108983581	missense	unknown
RF008:Col7a1	UTSW	9	108964479	missense	unknown
X0023:Col7a1	UTSW	9	108984185	unclassified	probably benign
Z1088:Col7a1	UTSW	9	108978500	splice site	silent
Z1177:Col7a1	UTSW	9	108974923	missense	unknown
Z1177:Col7a1	UTSW	9	108976051	missense	unknown
Z1177:Col7a1	UTSW	9	108984077	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATTCTGACTAGCCTGTTGCCC -3'
(R):5'- GGTCAAAAGCCACAGTTGTG -3'

Sequencing Primer
(F):5'- TCCCATTGGCCTCACTGGAAG -3'
(R):5'- CACAGTTGTGGGGAGGAGTCTC -3'

Posted On

2021-03-08