Mutagenetix > Incidental Mutation

Incidental Mutation 'R9565:Col7a1'

721494

Institutional Source

Beutler Lab

Gene Symbol

Col7a1

Ensembl Gene

ENSMUSG00000025650

Gene Name

collagen, type VII, alpha 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108953586-108984875 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108962741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1232 (V1232A)

Ref Sequence

ENSEMBL: ENSMUSP00000026740 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000026740
AA Change: V1232A

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650
AA Change: V1232A

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: V1232A

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650
AA Change: V1232A

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: 99.6%
20x: 98.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,930,975	M303T	probably benign	Het
2310035C23Rik	T	C	1: 105,664,151	V15A	probably damaging	Het
4930402H24Rik	G	A	2: 130,806,791	T257M	unknown	Het
Aco2	G	A	15: 81,889,434	R58Q	probably null	Het
Actl11	A	T	9: 107,930,922	T815S	possibly damaging	Het
Actr5	A	G	2: 158,628,215	D255G	probably damaging	Het
Acvr1	T	C	2: 58,448,373	K446E	probably damaging	Het
Adam39	T	C	8: 40,824,718	Y49H	probably benign	Het
Adcy7	TGG	TG	8: 88,326,425		probably null	Het
Amn1	C	T	6: 149,188,605		probably benign	Het
Ankdd1a	C	T	9: 65,504,170	A352T	possibly damaging	Het
Arl4c	A	G	1: 88,701,412	C85R	probably damaging	Het
Asgr2	T	A	11: 70,105,484		probably null	Het
Bdkrb1	G	A	12: 105,604,819	V215I	probably benign	Het
Btn2a2	C	A	13: 23,478,678	K367N	possibly damaging	Het
Btnl10	T	A	11: 58,922,363	F273I	probably benign	Het
C7	T	A	15: 5,057,097		probably null	Het
Cap1	A	G	4: 122,864,712	V225A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Ccdc18	A	G	5: 108,191,934	T782A	probably damaging	Het
Ccdc187	T	C	2: 26,293,686	S101G	possibly damaging	Het
Ccdc30	T	C	4: 119,393,624	N141S	possibly damaging	Het
Cdc42bpg	T	G	19: 6,320,666	L1263R	probably damaging	Het
Cdc42ep1	A	T	15: 78,849,582	H294L	probably benign	Het
Cdk12	A	G	11: 98,249,802	N1290D	unknown	Het
Ces1g	A	G	8: 93,335,164	V38A	probably benign	Het
Cntnap4	A	C	8: 112,856,350	Y1020S	probably benign	Het
Ctdsp2	A	G	10: 126,996,171	D216G	probably damaging	Het
Cyp2j6	A	G	4: 96,526,008	I340T	probably damaging	Het
Cyp4f37	A	G	17: 32,625,231	D103G	possibly damaging	Het
Dlgap1	T	G	17: 70,657,463	N400K	probably benign	Het
Dnah1	C	A	14: 31,264,437	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,875,324	R3547S	possibly damaging	Het
Dnah3	A	G	7: 120,010,891	V1774A	probably benign	Het
Drc7	A	G	8: 95,075,238	E709G	probably damaging	Het
Dsc1	T	A	18: 20,107,734	D178V	probably damaging	Het
Duox1	T	C	2: 122,320,722	Y293H	probably damaging	Het
Epas1	T	A	17: 86,805,239	D88E	probably damaging	Het
Epdr1	A	G	13: 19,594,651	F92L	possibly damaging	Het
Eri3	T	A	4: 117,564,816	V136E	probably benign	Het
Espl1	T	A	15: 102,319,798	I1669N	possibly damaging	Het
Etv6	A	G	6: 134,248,709	N212S	probably benign	Het
Fam186b	A	T	15: 99,278,804	L735Q	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fam208a	T	C	14: 27,479,809		probably null	Het
Fam212a	T	A	9: 107,984,289	Y276F	probably benign	Het
Fan1	A	G	7: 64,349,492	L874P	possibly damaging	Het
Fancm	A	G	12: 65,121,720	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,768,463	N183K	probably damaging	Het
Fbn2	T	C	18: 58,095,226	H746R	probably benign	Het
Fbxw17	T	C	13: 50,425,569	W141R	probably damaging	Het
Fbxw25	T	A	9: 109,654,608	N179Y		Het
Gbe1	A	T	16: 70,401,776	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,451,260	Y369F	probably damaging	Het
Gdf9	T	A	11: 53,436,684	S156T	probably damaging	Het
Gm11236	G	T	4: 73,638,953	V8F	probably damaging	Het
Gm14295	T	C	2: 176,807,369	V4A	probably benign	Het
Gm8369	A	C	19: 11,511,651	T101P	probably benign	Het
Herc3	A	G	6: 58,859,014	N280S	probably null	Het
Hipk2	T	A	6: 38,747,455	R447W	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hltf	G	A	3: 20,082,832		probably null	Het
Ik	C	A	18: 36,753,906	D397E	probably benign	Het
Ikbkap	G	T	4: 56,772,521	P867T	probably benign	Het
Kcnc1	G	A	7: 46,427,586	V271M	probably benign	Het
Kif21b	A	T	1: 136,149,352	I371F	probably damaging	Het
Klrc1	A	G	6: 129,678,783	F43S	probably damaging	Het
Krt8	A	G	15: 102,004,025	V72A	probably benign	Het
Krtap6-2	A	G	16: 89,419,834	S82P	unknown	Het
Lrrc15	G	A	16: 30,274,198	L108F	probably damaging	Het
Lvrn	T	G	18: 46,884,439	I612S	probably damaging	Het
Map3k3	T	A	11: 106,151,034	I413N	probably damaging	Het
Mark3	A	G	12: 111,604,526	I87V	probably damaging	Het
Mki67	GTT	GTTT	7: 135,707,504		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrgprb2	G	A	7: 48,552,926	T17M	possibly damaging	Het
Myh3	C	T	11: 67,092,361	R905*	probably null	Het
Myh8	T	C	11: 67,286,389	V427A	probably benign	Het
Myocd	T	C	11: 65,187,383	K529E	probably damaging	Het
Myom2	A	T	8: 15,108,399	K784*	probably null	Het
Olfr225	T	G	11: 59,613,513	I183S	probably damaging	Het
Olfr365	G	T	2: 37,201,563	M107I	probably benign	Het
Olfr820	T	C	10: 130,017,418	I19T	probably benign	Het
Pabpc4	T	C	4: 123,286,860	I125T	probably damaging	Het
Parp14	A	G	16: 35,857,405	I731T	probably benign	Het
Pde6c	T	A	19: 38,158,560		probably null	Het
Pias3	T	A	3: 96,703,551	C391S	possibly damaging	Het
Pknox2	A	T	9: 36,923,771	M134K	probably damaging	Het
Pot1b	A	G	17: 55,662,465	S568P	possibly damaging	Het
Ppp1r3a	T	A	6: 14,719,467	T483S	probably benign	Het
Rag1	A	T	2: 101,642,982	V605E	probably damaging	Het
Ros1	T	C	10: 52,067,074	D2048G	probably damaging	Het
Rp2	A	G	X: 20,377,542	D252G	probably benign	Het
Rpgrip1l	A	C	8: 91,304,888	H120Q	probably benign	Het
Rpl24	T	A	16: 55,970,146	S122T	probably benign	Het
Sec61b	A	G	4: 47,483,049	Y93C	probably damaging	Het
Sema6a	A	T	18: 47,249,527	L651Q	probably null	Het
Serpinb6a	T	A	13: 33,918,417	K275I	probably damaging	Het
Skiv2l	C	T	17: 34,844,782	A562T	probably benign	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496	N508S	probably benign	Het
Slc2a4	A	G	11: 69,946,347	F88L	probably damaging	Het
Slc8b1	A	G	5: 120,527,800	T399A	probably benign	Het
Slfn5	A	T	11: 82,956,873	M195L	possibly damaging	Het
Snx17	C	A	5: 31,197,744	Q368K	probably damaging	Het
Tbcb	A	T	7: 30,231,124		probably null	Het
Telo2	A	G	17: 25,115,225	I16T	probably benign	Het
Timm50	A	G	7: 28,307,644	F202S	possibly damaging	Het
Tle2	A	G	10: 81,581,733	D244G	probably benign	Het
Tlr4	G	A	4: 66,841,285	V772I	possibly damaging	Het
Tmem214	G	A	5: 30,869,699	W11*	probably null	Het
Top2b	A	C	14: 16,365,718	T14P	probably benign	Het
Trim44	T	C	2: 102,357,482	T309A	probably benign	Het
Tuba8	A	G	6: 121,223,104	N249S	probably benign	Het
Tubb4a	A	G	17: 57,081,027	V333A	probably benign	Het
Ugdh	C	A	5: 65,418,533	D328Y	possibly damaging	Het
Vmn1r189	A	G	13: 22,102,256	L137P	probably damaging	Het
Vmn1r208	A	G	13: 22,772,619	V236A	probably damaging	Het
Vmn2r29	A	T	7: 7,241,856	W340R	probably benign	Het
Vmn2r52	A	C	7: 10,159,549	D554E	probably benign	Het
Wdr36	C	T	18: 32,861,115	Q669*	probably null	Het
Wiz	G	T	17: 32,356,965	D812E	probably benign	Het
Zfp777	A	T	6: 48,044,646	V14D	possibly 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
R8751:Col7a1	UTSW	9	108967662	missense	possibly damaging	0.92
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
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'- ATTCGTGAGGCCCAGACTTC -3'
(R):5'- TGGCCACTTACCTTTGGACAG -3'

Sequencing Primer
(F):5'- CCCTGGTGACGTTGTCATATAG -3'
(R):5'- TACCTTTGGACAGTGCACAG -3'

Posted On

2022-08-09