Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02026:Col7a1'

184174

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col7a1

Ensembl Gene

ENSMUSG00000025650

Gene Name

collagen, type VII, alpha 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

108782654-108813943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108797097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1650 (K1650N)

Ref Sequence

ENSEMBL: ENSMUSP00000107701 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026740
AA Change: K1650N

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

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650
AA Change: K1650N

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

noncoding transcript
Transcript: ENSMUST00000102188

Predicted Effect

probably damaging
Transcript: ENSMUST00000112070
AA Change: K1650N

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

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650
AA Change: K1650N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127905

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,809,251 (GRCm39)	V237E	possibly damaging	Het
Amh	T	C	10: 80,641,242 (GRCm39)	L54P	probably damaging	Het
Aoc3	T	C	11: 101,228,421 (GRCm39)	S743P	probably benign	Het
Arhgap23	T	A	11: 97,342,407 (GRCm39)	W19R	probably damaging	Het
Atm	C	T	9: 53,353,717 (GRCm39)		probably null	Het
Ccdc47	T	C	11: 106,095,853 (GRCm39)	E281G	probably damaging	Het
Cstdc5	C	A	16: 36,187,848 (GRCm39)	V6F	possibly damaging	Het
Evi2b	T	C	11: 79,406,613 (GRCm39)	S321G	probably damaging	Het
Fancm	T	G	12: 65,152,508 (GRCm39)	V988G	probably benign	Het
Gbp2	A	G	3: 142,339,241 (GRCm39)	Y431C	probably damaging	Het
Gclc	T	C	9: 77,699,342 (GRCm39)	V530A	probably benign	Het
Gm5885	T	C	6: 133,508,291 (GRCm39)		noncoding transcript	Het
Hlcs	A	T	16: 93,935,564 (GRCm39)	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,444,587 (GRCm39)	F240L	probably damaging	Het
Itgb6	C	A	2: 60,458,410 (GRCm39)	V448F	possibly damaging	Het
Lama1	A	G	17: 68,116,287 (GRCm39)	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,020,482 (GRCm39)		probably benign	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Lrrtm3	T	C	10: 63,924,231 (GRCm39)	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,026,842 (GRCm39)	R468*	probably null	Het
Man1a	T	C	10: 53,890,569 (GRCm39)	E373G	probably damaging	Het
Myo1h	A	T	5: 114,461,505 (GRCm39)	Q250L	probably null	Het
Myo9a	T	C	9: 59,813,245 (GRCm39)	V2077A	probably damaging	Het
Or14j3	A	G	17: 37,900,298 (GRCm39)		probably benign	Het
Otud5	C	T	X: 7,738,232 (GRCm39)		probably benign	Het
Pcsk1	A	G	13: 75,260,772 (GRCm39)	S332G	probably benign	Het
Pde8b	A	G	13: 95,170,869 (GRCm39)	V549A	probably damaging	Het
Pgap1	A	T	1: 54,533,978 (GRCm39)	M645K	probably benign	Het
Pm20d1	A	T	1: 131,729,497 (GRCm39)	R175*	probably null	Het
Polr2b	A	G	5: 77,480,099 (GRCm39)	N585S	probably benign	Het
Recql	T	A	6: 142,312,394 (GRCm39)	K41*	probably null	Het
Sccpdh	A	T	1: 179,505,634 (GRCm39)	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,517,485 (GRCm39)	S951T	probably benign	Het
Slc44a4	A	T	17: 35,140,832 (GRCm39)		probably benign	Het
Tchhl1	G	T	3: 93,377,862 (GRCm39)	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,203,658 (GRCm39)		probably benign	Het
Tesl2	T	G	X: 23,824,233 (GRCm39)	H314P	probably damaging	Het
Trbv12-1	A	G	6: 41,090,928 (GRCm39)	D100G	probably damaging	Het
Ttll13	T	A	7: 79,910,127 (GRCm39)	S757T	probably benign	Het
Vipas39	T	A	12: 87,298,483 (GRCm39)		probably benign	Het
Vmn1r64	G	A	7: 5,886,649 (GRCm39)	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 11,994,432 (GRCm39)	S59P	probably damaging	Het
Vsx1	A	T	2: 150,530,447 (GRCm39)	V145D	probably benign	Het
Wdfy4	T	A	14: 32,815,257 (GRCm39)	N1586I	probably damaging	Het
Zan	T	A	5: 137,403,726 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zzef1	T	A	11: 72,772,164 (GRCm39)	M1707K	probably benign	Het

Other mutations in Col7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Col7a1	APN	9	108,806,765 (GRCm39)	nonsense	probably null
IGL01366:Col7a1	APN	9	108,806,187 (GRCm39)	splice site	probably benign
IGL01395:Col7a1	APN	9	108,812,980 (GRCm39)	unclassified	probably benign
IGL01410:Col7a1	APN	9	108,793,686 (GRCm39)	missense	unknown
IGL01902:Col7a1	APN	9	108,806,895 (GRCm39)	missense	unknown
IGL01915:Col7a1	APN	9	108,784,813 (GRCm39)	missense	unknown
IGL01936:Col7a1	APN	9	108,797,067 (GRCm39)	splice site	probably benign
IGL01943:Col7a1	APN	9	108,813,084 (GRCm39)	critical splice acceptor site	probably null
IGL02168:Col7a1	APN	9	108,813,143 (GRCm39)	unclassified	probably benign
IGL02504:Col7a1	APN	9	108,809,743 (GRCm39)	missense	unknown
IGL02510:Col7a1	APN	9	108,802,299 (GRCm39)	splice site	probably benign
IGL02559:Col7a1	APN	9	108,802,284 (GRCm39)	missense	unknown
IGL02583:Col7a1	APN	9	108,791,297 (GRCm39)	missense	unknown
IGL02728:Col7a1	APN	9	108,813,172 (GRCm39)	missense	probably benign	0.39
IGL03003:Col7a1	APN	9	108,804,024 (GRCm39)	critical splice donor site	probably null
IGL03096:Col7a1	APN	9	108,784,856 (GRCm39)	missense	unknown
IGL03122:Col7a1	APN	9	108,790,751 (GRCm39)	missense	unknown
IGL03212:Col7a1	APN	9	108,803,520 (GRCm39)	missense	unknown
IGL03240:Col7a1	APN	9	108,797,441 (GRCm39)	missense	probably null	1.00
IGL03355:Col7a1	APN	9	108,807,228 (GRCm39)	missense	unknown
olivetti	UTSW	9	108,799,029 (GRCm39)	missense	probably damaging	1.00
smallified	UTSW	9	108,801,881 (GRCm39)	critical splice donor site	probably null
underwood	UTSW	9	108,797,943 (GRCm39)	critical splice acceptor site	probably null
PIT4131001:Col7a1	UTSW	9	108,794,989 (GRCm39)	splice site	probably benign
R0007:Col7a1	UTSW	9	108,790,471 (GRCm39)	missense	unknown
R0007:Col7a1	UTSW	9	108,790,471 (GRCm39)	missense	unknown
R0078:Col7a1	UTSW	9	108,803,981 (GRCm39)	splice site	probably benign
R0091:Col7a1	UTSW	9	108,796,574 (GRCm39)	splice site	probably benign
R0126:Col7a1	UTSW	9	108,798,651 (GRCm39)	splice site	probably benign
R0244:Col7a1	UTSW	9	108,801,252 (GRCm39)	splice site	probably null
R0331:Col7a1	UTSW	9	108,796,570 (GRCm39)	splice site	probably benign
R0375:Col7a1	UTSW	9	108,809,305 (GRCm39)	missense	unknown
R0601:Col7a1	UTSW	9	108,809,652 (GRCm39)	splice site	probably benign
R0609:Col7a1	UTSW	9	108,787,215 (GRCm39)	missense	unknown
R0709:Col7a1	UTSW	9	108,790,616 (GRCm39)	splice site	probably benign
R0879:Col7a1	UTSW	9	108,805,159 (GRCm39)	splice site	probably benign
R1175:Col7a1	UTSW	9	108,784,402 (GRCm39)	missense	unknown
R1177:Col7a1	UTSW	9	108,791,509 (GRCm39)	missense	unknown
R1435:Col7a1	UTSW	9	108,792,341 (GRCm39)	missense	unknown
R1497:Col7a1	UTSW	9	108,807,893 (GRCm39)	missense	unknown
R1549:Col7a1	UTSW	9	108,785,034 (GRCm39)	missense	unknown
R1794:Col7a1	UTSW	9	108,794,996 (GRCm39)	missense	unknown
R1801:Col7a1	UTSW	9	108,790,065 (GRCm39)	missense	unknown
R1848:Col7a1	UTSW	9	108,798,633 (GRCm39)	missense	possibly damaging	0.83
R1899:Col7a1	UTSW	9	108,807,956 (GRCm39)	missense	unknown
R1944:Col7a1	UTSW	9	108,789,078 (GRCm39)	missense	unknown
R1945:Col7a1	UTSW	9	108,789,078 (GRCm39)	missense	unknown
R1955:Col7a1	UTSW	9	108,784,732 (GRCm39)	missense	unknown
R2009:Col7a1	UTSW	9	108,797,943 (GRCm39)	critical splice acceptor site	probably null
R2034:Col7a1	UTSW	9	108,792,075 (GRCm39)	missense	unknown
R3148:Col7a1	UTSW	9	108,790,473 (GRCm39)	missense	unknown
R3713:Col7a1	UTSW	9	108,793,508 (GRCm39)	nonsense	probably null
R4078:Col7a1	UTSW	9	108,790,059 (GRCm39)	missense	unknown
R4193:Col7a1	UTSW	9	108,785,740 (GRCm39)	missense	unknown
R4232:Col7a1	UTSW	9	108,801,881 (GRCm39)	critical splice donor site	probably null
R4528:Col7a1	UTSW	9	108,788,601 (GRCm39)	missense	unknown
R4771:Col7a1	UTSW	9	108,800,993 (GRCm39)	missense	probably damaging	0.99
R4820:Col7a1	UTSW	9	108,797,675 (GRCm39)	missense	possibly damaging	0.72
R4896:Col7a1	UTSW	9	108,786,345 (GRCm39)	missense	unknown
R4911:Col7a1	UTSW	9	108,804,287 (GRCm39)	missense	unknown
R4915:Col7a1	UTSW	9	108,795,532 (GRCm39)	missense	unknown
R4917:Col7a1	UTSW	9	108,795,532 (GRCm39)	missense	unknown
R5001:Col7a1	UTSW	9	108,794,146 (GRCm39)	critical splice donor site	probably null
R5352:Col7a1	UTSW	9	108,790,479 (GRCm39)	missense	unknown
R5361:Col7a1	UTSW	9	108,792,292 (GRCm39)	missense	unknown
R5730:Col7a1	UTSW	9	108,801,310 (GRCm39)	critical splice donor site	probably null
R5838:Col7a1	UTSW	9	108,807,211 (GRCm39)	missense	unknown
R5842:Col7a1	UTSW	9	108,794,883 (GRCm39)	missense	unknown
R5932:Col7a1	UTSW	9	108,809,279 (GRCm39)	missense	unknown
R6091:Col7a1	UTSW	9	108,784,402 (GRCm39)	missense	unknown
R6144:Col7a1	UTSW	9	108,803,148 (GRCm39)	missense	unknown
R6158:Col7a1	UTSW	9	108,793,671 (GRCm39)	missense	unknown
R6170:Col7a1	UTSW	9	108,795,511 (GRCm39)	missense	unknown
R6247:Col7a1	UTSW	9	108,810,130 (GRCm39)	unclassified	probably benign
R6338:Col7a1	UTSW	9	108,785,701 (GRCm39)	missense	unknown
R6339:Col7a1	UTSW	9	108,785,701 (GRCm39)	missense	unknown
R6382:Col7a1	UTSW	9	108,804,461 (GRCm39)	missense	unknown
R6518:Col7a1	UTSW	9	108,784,595 (GRCm39)	missense	unknown
R6533:Col7a1	UTSW	9	108,790,426 (GRCm39)	missense	unknown
R6569:Col7a1	UTSW	9	108,807,178 (GRCm39)	splice site	probably null
R6596:Col7a1	UTSW	9	108,783,409 (GRCm39)	unclassified	probably benign
R6697:Col7a1	UTSW	9	108,799,601 (GRCm39)	missense	probably damaging	1.00
R6753:Col7a1	UTSW	9	108,787,196 (GRCm39)	missense	unknown
R6849:Col7a1	UTSW	9	108,804,121 (GRCm39)	missense	unknown
R6915:Col7a1	UTSW	9	108,796,686 (GRCm39)	missense	probably benign	0.02
R6974:Col7a1	UTSW	9	108,798,494 (GRCm39)	missense	possibly damaging	0.82
R6991:Col7a1	UTSW	9	108,812,987 (GRCm39)	critical splice donor site	probably null
R7028:Col7a1	UTSW	9	108,792,331 (GRCm39)	nonsense	probably null
R7556:Col7a1	UTSW	9	108,811,533 (GRCm39)	splice site	probably null
R7571:Col7a1	UTSW	9	108,811,775 (GRCm39)	missense	probably null
R7815:Col7a1	UTSW	9	108,798,633 (GRCm39)	missense	probably damaging	0.96
R7875:Col7a1	UTSW	9	108,787,763 (GRCm39)	missense	unknown
R7931:Col7a1	UTSW	9	108,809,590 (GRCm39)	splice site	probably benign
R8016:Col7a1	UTSW	9	108,787,712 (GRCm39)	missense	unknown
R8038:Col7a1	UTSW	9	108,786,360 (GRCm39)	missense	unknown
R8049:Col7a1	UTSW	9	108,804,631 (GRCm39)	missense	unknown
R8098:Col7a1	UTSW	9	108,785,763 (GRCm39)	missense	unknown
R8103:Col7a1	UTSW	9	108,804,452 (GRCm39)	missense	unknown
R8128:Col7a1	UTSW	9	108,784,789 (GRCm39)	missense	unknown
R8268:Col7a1	UTSW	9	108,802,057 (GRCm39)	missense	unknown
R8274:Col7a1	UTSW	9	108,799,029 (GRCm39)	missense	probably damaging	1.00
R8318:Col7a1	UTSW	9	108,787,442 (GRCm39)	missense	unknown
R8751:Col7a1	UTSW	9	108,796,730 (GRCm39)	missense	possibly damaging	0.92
R8824:Col7a1	UTSW	9	108,796,093 (GRCm39)	missense	unknown
R9148:Col7a1	UTSW	9	108,789,274 (GRCm39)	missense	unknown
R9170:Col7a1	UTSW	9	108,785,707 (GRCm39)	missense	unknown
R9171:Col7a1	UTSW	9	108,807,953 (GRCm39)	missense	unknown
R9236:Col7a1	UTSW	9	108,789,684 (GRCm39)	missense	unknown
R9287:Col7a1	UTSW	9	108,787,457 (GRCm39)	missense	unknown
R9378:Col7a1	UTSW	9	108,787,708 (GRCm39)	nonsense	probably null
R9443:Col7a1	UTSW	9	108,785,059 (GRCm39)	missense	unknown
R9486:Col7a1	UTSW	9	108,811,396 (GRCm39)	missense	unknown
R9537:Col7a1	UTSW	9	108,784,420 (GRCm39)	nonsense	probably null
R9559:Col7a1	UTSW	9	108,786,360 (GRCm39)	missense	unknown
R9563:Col7a1	UTSW	9	108,791,809 (GRCm39)	missense	unknown
R9565:Col7a1	UTSW	9	108,791,809 (GRCm39)	missense	unknown
R9578:Col7a1	UTSW	9	108,789,350 (GRCm39)	missense	unknown
R9664:Col7a1	UTSW	9	108,812,649 (GRCm39)	missense	unknown
RF008:Col7a1	UTSW	9	108,793,547 (GRCm39)	missense	unknown
X0023:Col7a1	UTSW	9	108,813,253 (GRCm39)	unclassified	probably benign
Z1088:Col7a1	UTSW	9	108,807,568 (GRCm39)	splice site	silent
Z1177:Col7a1	UTSW	9	108,803,991 (GRCm39)	missense	unknown
Z1177:Col7a1	UTSW	9	108,813,145 (GRCm39)	missense	unknown
Z1177:Col7a1	UTSW	9	108,805,119 (GRCm39)	missense	unknown

Posted On

2014-05-07