Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Col7a1'

180714

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 #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

108782654-108813943 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 108797067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107701 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026740

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650

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 benign
Transcript: ENSMUST00000112070

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	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
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
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