Mutagenetix > Incidental Mutation

Incidental Mutation 'R6144:Col7a1'

488746

Institutional Source

Beutler Lab

Gene Symbol

Col7a1

Ensembl Gene

ENSMUSG00000025650

Gene Name

collagen, type VII, alpha 1

Synonyms

MMRRC Submission

044291-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108782654-108813943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108803148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 2149 (R2149C)

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: R2149C

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650
AA Change: R2149C

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

unknown
Transcript: ENSMUST00000112070
AA Change: R2149C

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650
AA Change: R2149C

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: ENSMUST00000149142

Meta Mutation Damage Score

0.4683

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,186,564 (GRCm39)	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,837,347 (GRCm39)	R246H	probably damaging	Het
Agbl1	A	G	7: 76,069,832 (GRCm39)	T203A	probably benign	Het
Alms1	T	A	6: 85,600,056 (GRCm39)	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,739,639 (GRCm39)		probably benign	Het
Arap3	C	A	18: 38,118,486 (GRCm39)	G814C	probably damaging	Het
Armc9	T	G	1: 86,172,301 (GRCm39)	I5S	probably benign	Het
Catsperg1	T	C	7: 28,910,120 (GRCm39)	T74A	probably damaging	Het
Cdca7l	T	A	12: 117,837,446 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,733,153 (GRCm39)		probably benign	Het
Chpt1	A	G	10: 88,288,955 (GRCm39)		probably benign	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Cpa4	T	C	6: 30,585,082 (GRCm39)	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,356,887 (GRCm39)		probably null	Het
Creb3l1	T	C	2: 91,822,350 (GRCm39)	H212R	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,310,053 (GRCm39)	D254G	possibly damaging	Het
Dennd1b	A	G	1: 139,008,993 (GRCm39)	H232R	probably damaging	Het
Dhx29	T	C	13: 113,101,105 (GRCm39)	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,529,476 (GRCm39)	I307T	possibly damaging	Het
Ep300	A	G	15: 81,485,435 (GRCm39)	S141G	unknown	Het
Evl	A	C	12: 108,619,290 (GRCm39)	K101T	probably damaging	Het
Exph5	G	A	9: 53,284,328 (GRCm39)	G470R	probably benign	Het
Flg	A	T	3: 93,190,515 (GRCm39)		probably benign	Het
Gm45704	T	A	8: 73,510,920 (GRCm39)			Het
Grm1	T	C	10: 10,955,640 (GRCm39)	M215V	probably benign	Het
Hadha	T	C	5: 30,345,994 (GRCm39)	D210G	probably benign	Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Hrc	A	T	7: 44,986,157 (GRCm39)	H436L	possibly damaging	Het
Hycc1	T	C	5: 24,171,367 (GRCm39)	S352G	possibly damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,131,917 (GRCm39)	R222L	probably benign	Het
Khnyn	T	C	14: 56,125,296 (GRCm39)	V485A	probably damaging	Het
Kifc5b	T	C	17: 27,140,826 (GRCm39)	V100A	probably benign	Het
Lsm10	T	C	4: 125,991,794 (GRCm39)	M50T	probably damaging	Het
Map3k6	T	G	4: 132,972,986 (GRCm39)	W382G	probably damaging	Het
Mink1	T	A	11: 70,501,478 (GRCm39)	F922I	possibly damaging	Het
Mrap2	T	C	9: 87,057,871 (GRCm39)	V53A	probably damaging	Het
Mrps7	C	A	11: 115,495,000 (GRCm39)	A5E	probably benign	Het
Muc4	A	G	16: 32,587,298 (GRCm39)	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,689,585 (GRCm39)	S249P	probably damaging	Het
Neil3	T	C	8: 54,052,447 (GRCm39)	T384A	probably benign	Het
Noc3l	A	T	19: 38,787,399 (GRCm39)	I504K	probably damaging	Het
Nudt13	A	G	14: 20,357,839 (GRCm39)	N107S	probably benign	Het
Or11h4b	C	A	14: 50,918,392 (GRCm39)	R233L	probably benign	Het
Or2n1	T	A	17: 38,486,116 (GRCm39)	L47H	probably damaging	Het
Or5c1	T	A	2: 37,222,125 (GRCm39)	M122K	probably damaging	Het
Otub1	G	T	19: 7,176,518 (GRCm39)	Y205*	probably null	Het
Pals1	T	C	12: 78,871,563 (GRCm39)	V381A	possibly damaging	Het
Pierce2	C	A	9: 72,887,270 (GRCm39)	C79F	probably damaging	Het
Plpp7	T	A	2: 31,986,100 (GRCm39)	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011 (GRCm38)	Y188D	probably damaging	Het
Rigi	T	C	4: 40,229,551 (GRCm39)	I78V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpap1	A	T	2: 119,603,128 (GRCm39)	C602*	probably null	Het
Sbds	T	C	5: 130,275,185 (GRCm39)	K248E	probably benign	Het
Serpina10	A	T	12: 103,595,092 (GRCm39)	N42K	probably benign	Het
Slc7a8	A	G	14: 54,966,797 (GRCm39)	L368P	probably damaging	Het
Srrm1	T	C	4: 135,065,184 (GRCm39)		probably benign	Het
Sun2	C	T	15: 79,614,533 (GRCm39)	V288I	probably benign	Het
Tas2r107	C	A	6: 131,636,966 (GRCm39)	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,037,155 (GRCm39)	I268T	probably benign	Het
Tjp2	A	G	19: 24,097,437 (GRCm39)	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740 (GRCm38)	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,697,005 (GRCm39)		probably null	Het
Trdv2-2	A	T	14: 54,198,761 (GRCm39)	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,719,886 (GRCm39)	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,718,914 (GRCm39)	T582A	probably benign	Het
Zfp788	T	C	7: 41,299,193 (GRCm39)	S558P	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGAGACCATGGCTCTTAC -3'
(R):5'- TGGCCATATACCTGTGGTCTG -3'

Sequencing Primer
(F):5'- AGACCATGGCTCTTACATGTG -3'
(R):5'- GTGGTCTGCCCTTACAAATAGC -3'

Posted On

2017-10-10