Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Col7a1'

520903

Institutional Source

Beutler Lab

Gene Symbol

Col7a1

Ensembl Gene

ENSMUSG00000025650

Gene Name

collagen, type VII, alpha 1

Synonyms

MMRRC Submission

044645-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108782654-108813943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108784595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 172 (F172L)

Ref Sequence

ENSEMBL: ENSMUSP00000107701 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000026740
AA Change: F172L

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650
AA Change: F172L

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

unknown
Transcript: ENSMUST00000112070
AA Change: F172L

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650
AA Change: F172L

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: ENSMUST00000192424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193607

Meta Mutation Damage Score

0.1257

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,123,608 (GRCm39)	D88G	probably damaging	Het
Abcc12	A	G	8: 87,235,718 (GRCm39)			Het
Angptl6	T	C	9: 20,786,656 (GRCm39)	H330R	probably damaging	Het
Asxl3	T	A	18: 22,649,397 (GRCm39)	V462E	probably damaging	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
C1ra	T	A	6: 124,498,534 (GRCm39)		probably null	Het
C2	T	A	17: 35,083,094 (GRCm39)	I426F	probably damaging	Het
C4b	A	T	17: 34,953,179 (GRCm39)	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,898,283 (GRCm39)	M134K	probably benign	Het
Cenpn	A	G	8: 117,663,904 (GRCm39)	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,663,319 (GRCm39)	I492K	probably benign	Het
Cog2	G	A	8: 125,253,842 (GRCm39)	W67*	probably null	Het
Dcaf1	T	C	9: 106,712,788 (GRCm39)	I112T	probably damaging	Het
Ddx4	T	C	13: 112,741,081 (GRCm39)	I518V	probably benign	Het
Dnah10	T	C	5: 124,835,419 (GRCm39)	L908P	probably damaging	Het
Dsg3	T	C	18: 20,666,479 (GRCm39)	Y563H	probably benign	Het
Gm16686	A	C	4: 88,673,725 (GRCm39)		probably benign	Het
Gpr139	A	T	7: 118,743,734 (GRCm39)	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ice1	A	T	13: 70,754,428 (GRCm39)	F553I	possibly damaging	Het
Igkv6-29	T	A	6: 70,115,497 (GRCm39)	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,914,856 (GRCm39)	N304S	probably benign	Het
Lmo1	A	C	7: 108,742,783 (GRCm39)	L39R	probably damaging	Het
Mcc	T	A	18: 44,794,878 (GRCm39)		probably benign	Het
Mindy3	T	C	2: 12,386,940 (GRCm39)	T74A	probably damaging	Het
Obi1	A	T	14: 104,716,501 (GRCm39)	L624H	probably damaging	Het
Or11a4	G	T	17: 37,536,159 (GRCm39)	A48S	probably benign	Het
Or13j1	A	G	4: 43,706,334 (GRCm39)	V78A	probably benign	Het
Or4e5	T	C	14: 52,728,077 (GRCm39)	I115V	probably damaging	Het
Ormdl1	T	C	1: 53,348,116 (GRCm39)	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,127,475 (GRCm39)	*1064K	probably null	Het
Pias1	A	G	9: 62,859,142 (GRCm39)	L113P	probably damaging	Het
Piezo2	A	T	18: 63,239,342 (GRCm39)	I514N	probably damaging	Het
Prkd1	T	C	12: 50,472,278 (GRCm39)	T212A	probably benign	Het
Rsph10b	A	G	5: 143,900,691 (GRCm39)	Y151C	probably damaging	Het
Samhd1	G	A	2: 156,956,217 (GRCm39)	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,922,519 (GRCm39)	T291A	probably damaging	Het
Smim24	A	G	10: 81,229,695 (GRCm39)	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,572,291 (GRCm39)		probably benign	Het
Spata31f1e	A	G	4: 42,791,750 (GRCm39)	I794T	probably benign	Het
Speer3	T	G	5: 13,845,462 (GRCm39)	I165S	possibly damaging	Het
Timm23	A	G	14: 31,923,594 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,467,427 (GRCm39)	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,632,608 (GRCm39)	C85*	probably null	Het
Try5	A	G	6: 41,291,613 (GRCm39)	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,270,436 (GRCm39)	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,265,281 (GRCm39)	D67E	probably benign	Het
Wars2	A	T	3: 99,124,116 (GRCm39)	M326L	probably benign	Het
Wdr70	A	T	15: 8,108,821 (GRCm39)	S108R	unknown	Het
Zfp677	A	G	17: 21,618,392 (GRCm39)	H483R	probably damaging	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
IGL02026:Col7a1	APN	9	108,797,097 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAAGGTGTTCCCTATAAACC -3'
(R):5'- TGCACACCCTCCTGGAAATG -3'

Sequencing Primer
(F):5'- CTACCATGCCTGCAAATGTG -3'
(R):5'- CCTCAAGATGCTGAAGTCATTGACG -3'

Posted On

2018-06-06