Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Col6a5'

597948

Institutional Source

Beutler Lab

Gene Symbol

Col6a5

Ensembl Gene

ENSMUSG00000091345

Gene Name

collagen, type VI, alpha 5

Synonyms

Gm7455, Col6a5

MMRRC Submission

045818-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105856078-105960643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105931324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 842 (I842V)

Ref Sequence

ENSEMBL: ENSMUSP00000139398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165165] [ENSMUST00000190193]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000165165
AA Change: I842V

SMART Domains

Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: I842V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
VWA	28	200	1.8e-24	SMART
low complexity region	222	248	N/A	INTRINSIC
VWA	266	439	2.23e-20	SMART
VWA	472	649	6.84e-39	SMART
VWA	658	834	1.52e-45	SMART
VWA	844	1024	2.44e-44	SMART
VWA	1035	1208	2.95e-20	SMART
Pfam:Collagen	1425	1478	3.3e-8	PFAM
low complexity region	1493	1508	N/A	INTRINSIC
low complexity region	1535	1552	N/A	INTRINSIC
Pfam:Collagen	1555	1616	9.6e-10	PFAM
low complexity region	1711	1730	N/A	INTRINSIC
low complexity region	1739	1757	N/A	INTRINSIC
VWA	1788	1964	1.99e-17	SMART
VWA	1994	2173	5.98e-21	SMART
VWA	2319	2513	4.4e-19	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000190193
AA Change: I842V

SMART Domains

Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: I842V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
VWA	28	200	1.1e-26	SMART
low complexity region	222	248	N/A	INTRINSIC
VWA	266	439	1.4e-22	SMART
VWA	472	649	4.4e-41	SMART
VWA	658	834	9.5e-48	SMART
VWA	844	1024	1.6e-46	SMART
VWA	1035	1208	1.9e-22	SMART
Pfam:Collagen	1425	1478	1.2e-6	PFAM
Pfam:Collagen	1457	1530	5.9e-6	PFAM
low complexity region	1535	1552	N/A	INTRINSIC
Pfam:Collagen	1555	1616	3.6e-8	PFAM
Pfam:Collagen	1631	1691	8.4e-6	PFAM
Pfam:Collagen	1706	1764	6.6e-6	PFAM
VWA	1788	1964	1.2e-19	SMART
VWA	1994	2173	3.7e-23	SMART
VWA	2319	2513	2.8e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686 (GRCm38)	V622I	probably benign	Het
Acod1	T	G	14: 103,051,340 (GRCm38)	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322 (GRCm38)	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680 (GRCm38)	S653T	probably benign	Het
Aox1	C	T	1: 58,349,104 (GRCm38)	P1124S	probably damaging	Het
Armh3	A	G	19: 45,940,443 (GRCm38)		probably null	Het
Atp4a	T	C	7: 30,720,036 (GRCm38)	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467 (GRCm38)	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556 (GRCm38)	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338 (GRCm38)	S128P	probably benign	Het
Cat	T	C	2: 103,456,858 (GRCm38)	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957 (GRCm38)	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069 (GRCm38)		probably null	Het
Clec2e	A	G	6: 129,095,128 (GRCm38)	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191 (GRCm38)	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141 (GRCm38)	M106V	probably benign	Het
Csf1r	A	T	18: 61,110,500 (GRCm38)	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381 (GRCm38)	N116K		Het
Dnaja4	A	G	9: 54,709,210 (GRCm38)	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032 (GRCm38)	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719 (GRCm38)	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439 (GRCm38)	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545 (GRCm38)	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533 (GRCm38)	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696 (GRCm38)	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432 (GRCm38)	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322 (GRCm38)	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337 (GRCm38)	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174 (GRCm38)	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326 (GRCm38)	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125 (GRCm38)	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992 (GRCm38)	H145L	probably benign	Het
Gm48552	C	T	10: 81,390,435 (GRCm38)	P18L	probably damaging	Het
H2-Q6	A	G	17: 35,428,101 (GRCm38)	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039 (GRCm38)	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199 (GRCm38)	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396 (GRCm38)	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757 (GRCm38)	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440 (GRCm38)	H64N	probably benign	Het
Lcor	T	C	19: 41,583,667 (GRCm38)	L287S	probably benign	Het
Lrba	T	A	3: 86,532,201 (GRCm38)	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421 (GRCm38)	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284 (GRCm38)	T376K	possibly damaging	Het
Muc21	G	A	17: 35,622,085 (GRCm38)	T403I	unknown	Het
Nbea	A	T	3: 55,649,705 (GRCm38)	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045 (GRCm38)	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819 (GRCm38)	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523 (GRCm38)	C460S	probably benign	Het
Or1j19	A	T	2: 36,787,010 (GRCm38)	I162F	probably benign	Het
Or1s2	A	T	19: 13,781,286 (GRCm38)	R223W	probably damaging	Het
Or2g7	G	A	17: 38,067,675 (GRCm38)	C168Y	probably damaging	Het
Or2y10	T	A	11: 49,564,761 (GRCm38)	I280N	possibly damaging	Het
Or4b1b	T	A	2: 90,296,631 (GRCm38)	K77*	probably null	Het
Or6c33	A	G	10: 130,017,181 (GRCm38)		probably benign	Het
Or8d1b	G	A	9: 38,976,194 (GRCm38)	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571 (GRCm38)	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924 (GRCm38)	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623 (GRCm38)	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173 (GRCm38)	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273 (GRCm38)	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466 (GRCm38)	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666 (GRCm38)	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193 (GRCm38)	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316 (GRCm38)	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249 (GRCm38)	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497 (GRCm38)	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928 (GRCm38)		probably null	Het
Shh	T	G	5: 28,466,666 (GRCm38)	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174 (GRCm38)	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501 (GRCm38)		probably null	Het
Tbx2	A	G	11: 85,835,901 (GRCm38)	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306 (GRCm38)	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416 (GRCm38)	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696 (GRCm38)	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376 (GRCm38)	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149 (GRCm38)	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222 (GRCm38)	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937 (GRCm38)	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675 (GRCm38)	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946 (GRCm38)		probably null	Het
Vwa3b	A	C	1: 37,124,045 (GRCm38)	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272 (GRCm38)	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635 (GRCm38)	F1356I	probably benign	Het

Other mutations in Col6a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Col6a5	APN	9	105,882,683 (GRCm38)	missense	probably damaging	1.00
IGL01462:Col6a5	APN	9	105,946,075 (GRCm38)	missense	unknown
IGL01530:Col6a5	APN	9	105,915,186 (GRCm38)	splice site	probably benign
IGL01717:Col6a5	APN	9	105,940,273 (GRCm38)	missense	unknown
IGL01859:Col6a5	APN	9	105,930,961 (GRCm38)	nonsense	probably null
IGL01945:Col6a5	APN	9	105,928,290 (GRCm38)	missense	unknown
IGL01985:Col6a5	APN	9	105,937,283 (GRCm38)	missense	unknown
IGL02128:Col6a5	APN	9	105,939,894 (GRCm38)	missense	unknown
IGL02170:Col6a5	APN	9	105,928,422 (GRCm38)	missense	unknown
IGL02224:Col6a5	APN	9	105,864,335 (GRCm38)	missense	probably damaging	1.00
IGL02246:Col6a5	APN	9	105,911,107 (GRCm38)	nonsense	probably null
IGL02304:Col6a5	APN	9	105,928,414 (GRCm38)	missense	unknown
IGL02338:Col6a5	APN	9	105,878,630 (GRCm38)	missense	probably damaging	1.00
IGL02375:Col6a5	APN	9	105,906,113 (GRCm38)	missense	unknown
IGL02660:Col6a5	APN	9	105,936,886 (GRCm38)	missense	unknown
IGL02829:Col6a5	APN	9	105,934,307 (GRCm38)	missense	unknown
IGL02882:Col6a5	APN	9	105,934,321 (GRCm38)	missense	unknown
IGL02973:Col6a5	APN	9	105,925,821 (GRCm38)	missense	unknown
IGL03089:Col6a5	APN	9	105,933,839 (GRCm38)	missense	unknown
IGL03100:Col6a5	APN	9	105,937,313 (GRCm38)	missense	unknown
IGL03257:Col6a5	APN	9	105,881,873 (GRCm38)	missense	possibly damaging	0.95
FR4340:Col6a5	UTSW	9	105,934,174 (GRCm38)	missense	unknown
FR4342:Col6a5	UTSW	9	105,934,174 (GRCm38)	missense	unknown
FR4589:Col6a5	UTSW	9	105,934,174 (GRCm38)	missense	unknown
PIT4131001:Col6a5	UTSW	9	105,881,914 (GRCm38)	missense	probably damaging	0.98
R0147:Col6a5	UTSW	9	105,925,794 (GRCm38)	missense	unknown
R0549:Col6a5	UTSW	9	105,904,579 (GRCm38)	splice site	probably benign
R0622:Col6a5	UTSW	9	105,925,852 (GRCm38)	missense	unknown
R0628:Col6a5	UTSW	9	105,912,450 (GRCm38)	splice site	probably null
R0635:Col6a5	UTSW	9	105,928,606 (GRCm38)	missense	unknown
R0644:Col6a5	UTSW	9	105,948,324 (GRCm38)	critical splice donor site	probably null
R0828:Col6a5	UTSW	9	105,862,064 (GRCm38)	critical splice acceptor site	probably null
R0972:Col6a5	UTSW	9	105,940,285 (GRCm38)	missense	unknown
R1065:Col6a5	UTSW	9	105,881,783 (GRCm38)	missense	probably damaging	0.99
R1142:Col6a5	UTSW	9	105,934,317 (GRCm38)	missense	unknown
R1169:Col6a5	UTSW	9	105,896,974 (GRCm38)	splice site	probably null
R1522:Col6a5	UTSW	9	105,939,994 (GRCm38)	missense	unknown
R1646:Col6a5	UTSW	9	105,862,749 (GRCm38)	nonsense	probably null
R1719:Col6a5	UTSW	9	105,931,293 (GRCm38)	missense	unknown
R1759:Col6a5	UTSW	9	105,930,846 (GRCm38)	missense	unknown
R1780:Col6a5	UTSW	9	105,936,878 (GRCm38)	missense	unknown
R1812:Col6a5	UTSW	9	105,928,054 (GRCm38)	missense	unknown
R1838:Col6a5	UTSW	9	105,864,833 (GRCm38)	missense	probably benign	0.28
R1839:Col6a5	UTSW	9	105,864,833 (GRCm38)	missense	probably benign	0.28
R1863:Col6a5	UTSW	9	105,940,201 (GRCm38)	missense	unknown
R1900:Col6a5	UTSW	9	105,931,213 (GRCm38)	missense	unknown
R1951:Col6a5	UTSW	9	105,936,957 (GRCm38)	missense	unknown
R2024:Col6a5	UTSW	9	105,936,994 (GRCm38)	missense	unknown
R2126:Col6a5	UTSW	9	105,945,600 (GRCm38)	missense	unknown
R2319:Col6a5	UTSW	9	105,937,218 (GRCm38)	missense	unknown
R2344:Col6a5	UTSW	9	105,928,537 (GRCm38)	missense	unknown
R2483:Col6a5	UTSW	9	105,864,148 (GRCm38)	missense	probably damaging	1.00
R3176:Col6a5	UTSW	9	105,911,107 (GRCm38)	nonsense	probably null
R3276:Col6a5	UTSW	9	105,911,107 (GRCm38)	nonsense	probably null
R3438:Col6a5	UTSW	9	105,875,792 (GRCm38)	missense	possibly damaging	0.88
R3791:Col6a5	UTSW	9	105,864,669 (GRCm38)	missense	probably damaging	0.99
R3840:Col6a5	UTSW	9	105,928,611 (GRCm38)	missense	unknown
R3886:Col6a5	UTSW	9	105,930,930 (GRCm38)	missense	unknown
R3941:Col6a5	UTSW	9	105,939,834 (GRCm38)	missense	unknown
R4194:Col6a5	UTSW	9	105,945,914 (GRCm38)	missense	unknown
R4399:Col6a5	UTSW	9	105,888,965 (GRCm38)	missense	possibly damaging	0.75
R4421:Col6a5	UTSW	9	105,928,473 (GRCm38)	missense	unknown
R4450:Col6a5	UTSW	9	105,904,521 (GRCm38)	missense	unknown
R4491:Col6a5	UTSW	9	105,940,012 (GRCm38)	missense	unknown
R4582:Col6a5	UTSW	9	105,862,764 (GRCm38)	missense	probably benign	0.17
R4693:Col6a5	UTSW	9	105,937,172 (GRCm38)	missense	unknown
R4787:Col6a5	UTSW	9	105,931,081 (GRCm38)	missense	unknown
R4789:Col6a5	UTSW	9	105,937,335 (GRCm38)	missense	unknown
R4791:Col6a5	UTSW	9	105,930,784 (GRCm38)	missense	unknown
R4792:Col6a5	UTSW	9	105,930,784 (GRCm38)	missense	unknown
R4817:Col6a5	UTSW	9	105,934,298 (GRCm38)	missense	unknown
R4854:Col6a5	UTSW	9	105,898,751 (GRCm38)	missense	probably benign	0.18
R4927:Col6a5	UTSW	9	105,933,964 (GRCm38)	missense	unknown
R4969:Col6a5	UTSW	9	105,864,607 (GRCm38)	missense	probably damaging	1.00
R5037:Col6a5	UTSW	9	105,928,138 (GRCm38)	missense	unknown
R5118:Col6a5	UTSW	9	105,937,005 (GRCm38)	missense	unknown
R5144:Col6a5	UTSW	9	105,889,283 (GRCm38)	missense	probably damaging	1.00
R5145:Col6a5	UTSW	9	105,934,245 (GRCm38)	missense	unknown
R5160:Col6a5	UTSW	9	105,931,009 (GRCm38)	missense	unknown
R5182:Col6a5	UTSW	9	105,857,332 (GRCm38)	nonsense	probably null
R5234:Col6a5	UTSW	9	105,864,205 (GRCm38)	missense	probably damaging	1.00
R5252:Col6a5	UTSW	9	105,940,290 (GRCm38)	missense	unknown
R5290:Col6a5	UTSW	9	105,946,083 (GRCm38)	missense	unknown
R5313:Col6a5	UTSW	9	105,945,544 (GRCm38)	missense	unknown
R5321:Col6a5	UTSW	9	105,928,465 (GRCm38)	missense	unknown
R5466:Col6a5	UTSW	9	105,931,083 (GRCm38)	missense	unknown
R5540:Col6a5	UTSW	9	105,862,776 (GRCm38)	missense	probably benign	0.44
R5669:Col6a5	UTSW	9	105,925,998 (GRCm38)	missense	unknown
R5789:Col6a5	UTSW	9	105,864,608 (GRCm38)	missense	possibly damaging	0.91
R5801:Col6a5	UTSW	9	105,948,367 (GRCm38)	missense	unknown
R5827:Col6a5	UTSW	9	105,928,120 (GRCm38)	nonsense	probably null
R5839:Col6a5	UTSW	9	105,945,393 (GRCm38)	critical splice donor site	probably null
R5908:Col6a5	UTSW	9	105,862,801 (GRCm38)	missense	possibly damaging	0.88
R5970:Col6a5	UTSW	9	105,945,847 (GRCm38)	missense	unknown
R6045:Col6a5	UTSW	9	105,925,918 (GRCm38)	missense	unknown
R6107:Col6a5	UTSW	9	105,892,272 (GRCm38)	nonsense	probably null
R6168:Col6a5	UTSW	9	105,875,787 (GRCm38)	critical splice donor site	probably null
R6315:Col6a5	UTSW	9	105,881,970 (GRCm38)	missense	probably damaging	1.00
R6317:Col6a5	UTSW	9	105,889,067 (GRCm38)	missense	probably damaging	1.00
R6414:Col6a5	UTSW	9	105,892,266 (GRCm38)	splice site	probably null
R6434:Col6a5	UTSW	9	105,937,345 (GRCm38)	missense	unknown
R6456:Col6a5	UTSW	9	105,945,477 (GRCm38)	missense	unknown
R6698:Col6a5	UTSW	9	105,934,175 (GRCm38)	missense	unknown
R6876:Col6a5	UTSW	9	105,937,307 (GRCm38)	missense	unknown
R6882:Col6a5	UTSW	9	105,940,270 (GRCm38)	nonsense	probably null
R6928:Col6a5	UTSW	9	105,939,919 (GRCm38)	missense	unknown
R7024:Col6a5	UTSW	9	105,912,475 (GRCm38)	nonsense	probably null
R7038:Col6a5	UTSW	9	105,945,738 (GRCm38)	missense	unknown
R7082:Col6a5	UTSW	9	105,931,239 (GRCm38)	missense	unknown
R7158:Col6a5	UTSW	9	105,864,208 (GRCm38)	missense	possibly damaging	0.90
R7211:Col6a5	UTSW	9	105,928,164 (GRCm38)	missense	unknown
R7431:Col6a5	UTSW	9	105,928,269 (GRCm38)	missense	unknown
R7440:Col6a5	UTSW	9	105,881,431 (GRCm38)	nonsense	probably null
R7502:Col6a5	UTSW	9	105,875,876 (GRCm38)	missense	probably benign	0.05
R7577:Col6a5	UTSW	9	105,864,688 (GRCm38)	nonsense	probably null
R7582:Col6a5	UTSW	9	105,945,426 (GRCm38)	missense	unknown
R7641:Col6a5	UTSW	9	105,881,426 (GRCm38)	nonsense	probably null
R7793:Col6a5	UTSW	9	105,898,735 (GRCm38)	missense	probably damaging	1.00
R7821:Col6a5	UTSW	9	105,864,259 (GRCm38)	missense	probably damaging	1.00
R7848:Col6a5	UTSW	9	105,928,186 (GRCm38)	missense	unknown
R7897:Col6a5	UTSW	9	105,889,183 (GRCm38)	missense	possibly damaging	0.96
R7904:Col6a5	UTSW	9	105,928,521 (GRCm38)	missense	unknown
R7960:Col6a5	UTSW	9	105,945,850 (GRCm38)	missense	unknown
R8015:Col6a5	UTSW	9	105,881,741 (GRCm38)	missense	possibly damaging	0.65
R8100:Col6a5	UTSW	9	105,878,640 (GRCm38)	missense	probably damaging	1.00
R8131:Col6a5	UTSW	9	105,901,616 (GRCm38)	missense	unknown
R8418:Col6a5	UTSW	9	105,878,622 (GRCm38)	missense	probably damaging	1.00
R8425:Col6a5	UTSW	9	105,945,957 (GRCm38)	missense	unknown
R8678:Col6a5	UTSW	9	105,934,352 (GRCm38)	missense	unknown
R8690:Col6a5	UTSW	9	105,882,597 (GRCm38)	missense	probably damaging	0.97
R8847:Col6a5	UTSW	9	105,864,273 (GRCm38)	missense	possibly damaging	0.81
R8946:Col6a5	UTSW	9	105,945,634 (GRCm38)	missense	unknown
R8947:Col6a5	UTSW	9	105,945,634 (GRCm38)	missense	unknown
R8949:Col6a5	UTSW	9	105,945,634 (GRCm38)	missense	unknown
R8950:Col6a5	UTSW	9	105,945,634 (GRCm38)	missense	unknown
R9089:Col6a5	UTSW	9	105,888,943 (GRCm38)	missense	probably damaging	1.00
R9118:Col6a5	UTSW	9	105,878,654 (GRCm38)	splice site	probably benign
R9169:Col6a5	UTSW	9	105,945,397 (GRCm38)	missense	unknown
R9177:Col6a5	UTSW	9	105,930,953 (GRCm38)	missense	unknown
R9180:Col6a5	UTSW	9	105,861,979 (GRCm38)	missense	probably damaging	0.99
R9205:Col6a5	UTSW	9	105,878,638 (GRCm38)	missense	probably damaging	1.00
R9214:Col6a5	UTSW	9	105,881,741 (GRCm38)	missense	possibly damaging	0.65
R9224:Col6a5	UTSW	9	105,937,395 (GRCm38)	missense	unknown
R9279:Col6a5	UTSW	9	105,881,777 (GRCm38)	missense	probably damaging	1.00
R9383:Col6a5	UTSW	9	105,925,911 (GRCm38)	missense	unknown
R9427:Col6a5	UTSW	9	105,939,793 (GRCm38)	missense	unknown
R9488:Col6a5	UTSW	9	105,864,589 (GRCm38)	missense	probably damaging	1.00
R9494:Col6a5	UTSW	9	105,945,533 (GRCm38)	missense	unknown
R9659:Col6a5	UTSW	9	105,933,835 (GRCm38)	missense	unknown
R9749:Col6a5	UTSW	9	105,861,991 (GRCm38)	missense	probably damaging	0.98
RF013:Col6a5	UTSW	9	105,878,597 (GRCm38)	frame shift	probably null
X0054:Col6a5	UTSW	9	105,915,158 (GRCm38)	missense	unknown
X0058:Col6a5	UTSW	9	105,881,778 (GRCm38)	nonsense	probably null
Z1088:Col6a5	UTSW	9	105,926,067 (GRCm38)	missense	unknown
Z1177:Col6a5	UTSW	9	105,930,785 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCAGATGCTCAGCAATGGC -3'
(R):5'- CACCTTGTAGAACCAAGTGAGAC -3'

Sequencing Primer
(F):5'- TGGCTGATCCACTTGAGTAAG -3'
(R):5'- CTCAACTGGCAAAGTGCTTG -3'

Posted On

2019-11-26