Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Col7a1'

168968

Institutional Source

Beutler Lab

Gene Symbol

Col7a1

Ensembl Gene

ENSMUSG00000025650

Gene Name

collagen, type VII, alpha 1

Synonyms

MMRRC Submission

039548-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108782654-108813943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108807893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 2531 (E2531A)

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: E2531A

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650
AA Change: E2531A

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: E2531A

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650
AA Change: E2531A

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: ENSMUST00000138588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198997

Meta Mutation Damage Score

0.1302

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,864,647 (GRCm39)		probably benign	Het
Abhd17a	A	G	10: 80,420,164 (GRCm39)		probably benign	Het
Acacb	G	A	5: 114,334,868 (GRCm39)	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,916,743 (GRCm39)	M262V	probably benign	Het
Anapc7	T	A	5: 122,573,578 (GRCm39)		probably benign	Het
Car5b	T	A	X: 162,771,400 (GRCm39)	K188N	probably benign	Het
Caskin1	C	T	17: 24,723,515 (GRCm39)	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938 (GRCm39)	S331P	probably benign	Het
Ccdc68	C	T	18: 70,093,585 (GRCm39)		probably benign	Het
Cd44	A	T	2: 102,673,300 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,726,064 (GRCm39)	S3090G	probably benign	Het
Clasp1	A	T	1: 118,479,788 (GRCm39)	M1023L	probably benign	Het
Clec16a	T	C	16: 10,453,123 (GRCm39)	F608S	probably damaging	Het
Ctc1	T	A	11: 68,913,387 (GRCm39)	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,223 (GRCm39)		noncoding transcript	Het
Cyp2j6	T	A	4: 96,419,898 (GRCm39)	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,908,924 (GRCm39)	S723R	probably damaging	Het
Dhx8	A	G	11: 101,626,213 (GRCm39)		probably benign	Het
Dnah17	A	T	11: 118,005,059 (GRCm39)	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,971,049 (GRCm39)	T2701K	probably damaging	Het
Eml3	T	A	19: 8,913,733 (GRCm39)	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,101,315 (GRCm39)	E96G	possibly damaging	Het
Ezr	T	C	17: 7,010,107 (GRCm39)	H314R	probably benign	Het
Fam193b	G	T	13: 55,702,247 (GRCm39)	H43Q	probably damaging	Het
Fam217a	T	A	13: 35,095,195 (GRCm39)	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,292,109 (GRCm39)	Q89H	probably damaging	Het
Flg2	A	T	3: 93,127,076 (GRCm39)	H1996L	unknown	Het
Gabpb1	C	T	2: 126,481,169 (GRCm39)	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,477,098 (GRCm39)	V36A	probably benign	Het
Hspg2	A	G	4: 137,275,407 (GRCm39)	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,455,194 (GRCm39)		probably null	Het
Ipo13	T	C	4: 117,761,856 (GRCm39)	D448G	probably benign	Het
Kcnq5	T	C	1: 21,472,610 (GRCm39)	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,973,715 (GRCm39)	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,519,513 (GRCm39)	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,724,310 (GRCm39)	F235S	probably damaging	Het
Maml1	A	C	11: 50,156,534 (GRCm39)	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,384,689 (GRCm39)	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,147,393 (GRCm39)	N534K	possibly damaging	Het
Mcat	G	A	15: 83,433,453 (GRCm39)	Q34*	probably null	Het
Mcu	T	A	10: 59,284,670 (GRCm39)	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,048,951 (GRCm39)	P199T	probably benign	Het
Mndal	A	T	1: 173,700,441 (GRCm39)	S177T	probably benign	Het
Mpeg1	G	T	19: 12,438,611 (GRCm39)	C23F	probably benign	Het
Mup15	T	A	4: 61,356,471 (GRCm39)	Y98F	probably benign	Het
Myh8	T	C	11: 67,180,638 (GRCm39)	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,830,282 (GRCm39)		probably benign	Het
Nlrp4e	T	C	7: 23,019,797 (GRCm39)	S95P	probably benign	Het
Or1e19	T	A	11: 73,316,653 (GRCm39)	D52V	possibly damaging	Het
Or4a66	T	C	2: 88,531,106 (GRCm39)	D189G	probably damaging	Het
Otop2	A	G	11: 115,220,675 (GRCm39)		probably null	Het
Pcnx4	G	C	12: 72,621,174 (GRCm39)	G998A	probably benign	Het
Pnkd	C	A	1: 74,390,681 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,573,204 (GRCm39)	V701E	probably benign	Het
Ryr2	A	G	13: 11,616,727 (GRCm39)	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,162,631 (GRCm39)	E205G	probably damaging	Het
Sdk2	G	A	11: 113,784,401 (GRCm39)		probably benign	Het
Serpinb5	A	T	1: 106,803,782 (GRCm39)	Q156L	probably benign	Het
Setdb1	A	T	3: 95,234,778 (GRCm39)	V975D	probably benign	Het
Shc1	A	G	3: 89,335,752 (GRCm39)	*470W	probably null	Het
Sik3	T	A	9: 46,113,320 (GRCm39)	V587E	probably damaging	Het
Sik3	C	A	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Spata7	T	C	12: 98,635,120 (GRCm39)	I384T	probably damaging	Het
Tanc2	T	A	11: 105,812,963 (GRCm39)	V1469D	probably benign	Het
Tasor2	T	C	13: 3,620,409 (GRCm39)	E2164G	probably damaging	Het
Tdrd5	A	T	1: 156,083,372 (GRCm39)	N888K	probably benign	Het
Tex22	T	C	12: 113,039,000 (GRCm39)	S34P	probably benign	Het
Tmed6	T	C	8: 107,790,754 (GRCm39)	T98A	probably benign	Het
Trim66	G	A	7: 109,083,826 (GRCm39)	P141L	probably benign	Het
Trpa1	T	C	1: 14,956,036 (GRCm39)	I778V	probably benign	Het
Urb2	T	A	8: 124,754,816 (GRCm39)	H174Q	probably damaging	Het
Usb1	T	C	8: 96,065,325 (GRCm39)	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,114,394 (GRCm39)	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,311,219 (GRCm39)	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,805,160 (GRCm39)	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,387,625 (GRCm39)	V210A	probably benign	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Zfp768	T	A	7: 126,942,733 (GRCm39)	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,821,105 (GRCm39)	N617Y	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
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

Predicted Primers

PCR Primer
(F):5'- ATTCTTCCACCCAATAGGGCGCTG -3'
(R):5'- ACCGTTTGGAGCACCCCTAACATC -3'

Sequencing Primer
(F):5'- CTGTGATTGAGGGACCTCC -3'
(R):5'- ctgactctgtggcatgagc -3'

Posted On

2014-04-13