Mutagenetix > Incidental Mutation

Incidental Mutation 'R1759:Col6a5'

195202

Institutional Source

Beutler Lab

Gene Symbol

Col6a5

Ensembl Gene

ENSMUSG00000091345

Gene Name

collagen, type VI, alpha 5

Synonyms

Gm7455, Col6a5

MMRRC Submission

039791-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105733277-105837842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105808045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1001 (E1001V)

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: E1001V

SMART Domains

Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: E1001V

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: E1001V

SMART Domains

Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: E1001V

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,272 (GRCm39)	M53L	possibly damaging	Het
Abca5	T	C	11: 110,184,674 (GRCm39)	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,556,211 (GRCm39)	Y433C	probably damaging	Het
Aox3	A	G	1: 58,209,805 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,559,853 (GRCm39)	G260E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a4	T	A	16: 29,275,429 (GRCm39)	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,024,729 (GRCm39)	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,743,243 (GRCm39)	D159E	probably damaging	Het
Chd1	T	A	17: 17,607,533 (GRCm39)	D360E	probably benign	Het
Col16a1	G	T	4: 129,978,062 (GRCm39)	G781V	probably damaging	Het
Cracdl	A	T	1: 37,664,791 (GRCm39)	I369N	probably benign	Het
Cyp3a59	T	G	5: 146,035,060 (GRCm39)	M246R	probably benign	Het
Dcn	T	C	10: 97,349,517 (GRCm39)	V263A	probably benign	Het
Dnttip2	A	G	3: 122,069,798 (GRCm39)	N338D	probably benign	Het
Entpd1	G	T	19: 40,600,968 (GRCm39)		probably null	Het
Epb41l1	A	G	2: 156,363,894 (GRCm39)	D801G	probably benign	Het
Fam186a	T	A	15: 99,864,762 (GRCm39)	K23*	probably null	Het
Gbe1	T	C	16: 70,284,929 (GRCm39)	M417T	probably benign	Het
Gmnc	T	A	16: 26,784,497 (GRCm39)	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,768,583 (GRCm39)	S35P	probably damaging	Het
Grid1	T	C	14: 35,167,988 (GRCm39)	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,526,071 (GRCm39)	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,399 (GRCm39)	I308N	probably damaging	Het
Inpp4b	A	G	8: 82,494,732 (GRCm39)	D49G	probably benign	Het
Ipmk	C	A	10: 71,217,133 (GRCm39)	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,181,320 (GRCm39)	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,841,047 (GRCm39)	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,477,509 (GRCm39)	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,124,633 (GRCm39)		probably null	Het
Kiss1r	T	C	10: 79,757,612 (GRCm39)	L322P	probably damaging	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lrpprc	T	C	17: 85,047,509 (GRCm39)	K908E	probably damaging	Het
Mak	C	A	13: 41,210,110 (GRCm39)	W42L	probably damaging	Het
Map3k21	A	G	8: 126,671,519 (GRCm39)	T936A	probably benign	Het
Marchf7	C	T	2: 60,064,888 (GRCm39)	S388F	probably damaging	Het
Matcap1	A	T	8: 106,012,182 (GRCm39)	S88R	probably damaging	Het
Mgat2	A	T	12: 69,232,301 (GRCm39)	I292F	probably benign	Het
Myh3	C	A	11: 66,987,717 (GRCm39)	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,089,275 (GRCm39)	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,983,956 (GRCm39)	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,450,369 (GRCm39)	T43A	probably damaging	Het
Nip7	A	G	8: 107,784,767 (GRCm39)	N124S	probably benign	Het
Or3a1	G	A	11: 74,225,808 (GRCm39)	S83F	possibly damaging	Het
Or51l14	T	C	7: 103,101,356 (GRCm39)	S271P	probably benign	Het
Or6c75	T	A	10: 129,336,775 (GRCm39)	S7R	probably benign	Het
Or7g25	C	T	9: 19,160,384 (GRCm39)	V104I	probably benign	Het
Or8b55	T	C	9: 38,727,194 (GRCm39)	Y132H	probably damaging	Het
Otoa	T	C	7: 120,733,326 (GRCm39)	L731P	probably damaging	Het
Pcnx2	G	A	8: 126,500,717 (GRCm39)	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,407,224 (GRCm39)	T492A	probably damaging	Het
Pgm1	A	G	4: 99,824,305 (GRCm39)	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,119,535 (GRCm39)	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,387,922 (GRCm39)	A195T	probably damaging	Het
Ppib	C	T	9: 65,968,764 (GRCm39)	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,181,067 (GRCm39)	T13K	probably benign	Het
Psmg2	A	T	18: 67,781,246 (GRCm39)	S113C	probably benign	Het
Rapgef2	A	G	3: 78,974,038 (GRCm39)	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424 (GRCm39)	R465S	probably damaging	Het
Reln	A	G	5: 22,215,287 (GRCm39)	Y1055H	probably damaging	Het
Ros1	A	T	10: 51,996,922 (GRCm39)	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401 (GRCm39)	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765 (GRCm39)	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,863,248 (GRCm39)	E980K	possibly damaging	Het
Sil1	T	C	18: 35,551,151 (GRCm39)	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,518,237 (GRCm39)	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,438,062 (GRCm39)		probably null	Het
Smg7	G	T	1: 152,724,597 (GRCm39)	T536K	probably benign	Het
Smyd4	A	G	11: 75,273,192 (GRCm39)	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,216,056 (GRCm39)	*50C	probably null	Het
Speg	A	T	1: 75,377,806 (GRCm39)	M855L	possibly damaging	Het
Srrt	G	T	5: 137,301,212 (GRCm39)	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,552,130 (GRCm39)	S146P	probably damaging	Het
Syne1	T	A	10: 5,299,369 (GRCm39)	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,566,278 (GRCm39)	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,642,765 (GRCm39)	M135I	probably benign	Het
Tpr	A	T	1: 150,305,275 (GRCm39)	E1521D	probably benign	Het
Uba3	C	T	6: 97,173,865 (GRCm39)	G107R	probably damaging	Het
Unc45b	G	T	11: 82,820,325 (GRCm39)	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,211,297 (GRCm39)	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,914,755 (GRCm39)	N773K	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wfs1	G	C	5: 37,124,359 (GRCm39)	A844G	probably damaging	Het
Zfp398	A	G	6: 47,836,412 (GRCm39)	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,475,403 (GRCm39)	A145S	probably damaging	Het
Zfp971	A	T	2: 177,675,722 (GRCm39)	E440D	probably damaging	Het

Other mutations in Col6a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Col6a5	APN	9	105,759,882 (GRCm39)	missense	probably damaging	1.00
IGL01462:Col6a5	APN	9	105,823,274 (GRCm39)	missense	unknown
IGL01530:Col6a5	APN	9	105,792,385 (GRCm39)	splice site	probably benign
IGL01717:Col6a5	APN	9	105,817,472 (GRCm39)	missense	unknown
IGL01859:Col6a5	APN	9	105,808,160 (GRCm39)	nonsense	probably null
IGL01945:Col6a5	APN	9	105,805,489 (GRCm39)	missense	unknown
IGL01985:Col6a5	APN	9	105,814,482 (GRCm39)	missense	unknown
IGL02128:Col6a5	APN	9	105,817,093 (GRCm39)	missense	unknown
IGL02170:Col6a5	APN	9	105,805,621 (GRCm39)	missense	unknown
IGL02224:Col6a5	APN	9	105,741,534 (GRCm39)	missense	probably damaging	1.00
IGL02246:Col6a5	APN	9	105,788,306 (GRCm39)	nonsense	probably null
IGL02304:Col6a5	APN	9	105,805,613 (GRCm39)	missense	unknown
IGL02338:Col6a5	APN	9	105,755,829 (GRCm39)	missense	probably damaging	1.00
IGL02375:Col6a5	APN	9	105,783,312 (GRCm39)	missense	unknown
IGL02660:Col6a5	APN	9	105,814,085 (GRCm39)	missense	unknown
IGL02829:Col6a5	APN	9	105,811,506 (GRCm39)	missense	unknown
IGL02882:Col6a5	APN	9	105,811,520 (GRCm39)	missense	unknown
IGL02973:Col6a5	APN	9	105,803,020 (GRCm39)	missense	unknown
IGL03089:Col6a5	APN	9	105,811,038 (GRCm39)	missense	unknown
IGL03100:Col6a5	APN	9	105,814,512 (GRCm39)	missense	unknown
IGL03257:Col6a5	APN	9	105,759,072 (GRCm39)	missense	possibly damaging	0.95
FR4340:Col6a5	UTSW	9	105,811,373 (GRCm39)	missense	unknown
FR4342:Col6a5	UTSW	9	105,811,373 (GRCm39)	missense	unknown
FR4589:Col6a5	UTSW	9	105,811,373 (GRCm39)	missense	unknown
PIT4131001:Col6a5	UTSW	9	105,759,113 (GRCm39)	missense	probably damaging	0.98
R0147:Col6a5	UTSW	9	105,802,993 (GRCm39)	missense	unknown
R0549:Col6a5	UTSW	9	105,781,778 (GRCm39)	splice site	probably benign
R0622:Col6a5	UTSW	9	105,803,051 (GRCm39)	missense	unknown
R0628:Col6a5	UTSW	9	105,789,649 (GRCm39)	splice site	probably null
R0635:Col6a5	UTSW	9	105,805,805 (GRCm39)	missense	unknown
R0644:Col6a5	UTSW	9	105,825,523 (GRCm39)	critical splice donor site	probably null
R0828:Col6a5	UTSW	9	105,739,263 (GRCm39)	critical splice acceptor site	probably null
R0972:Col6a5	UTSW	9	105,817,484 (GRCm39)	missense	unknown
R1065:Col6a5	UTSW	9	105,758,982 (GRCm39)	missense	probably damaging	0.99
R1142:Col6a5	UTSW	9	105,811,516 (GRCm39)	missense	unknown
R1169:Col6a5	UTSW	9	105,774,173 (GRCm39)	splice site	probably null
R1522:Col6a5	UTSW	9	105,817,193 (GRCm39)	missense	unknown
R1646:Col6a5	UTSW	9	105,739,948 (GRCm39)	nonsense	probably null
R1719:Col6a5	UTSW	9	105,808,492 (GRCm39)	missense	unknown
R1780:Col6a5	UTSW	9	105,814,077 (GRCm39)	missense	unknown
R1812:Col6a5	UTSW	9	105,805,253 (GRCm39)	missense	unknown
R1838:Col6a5	UTSW	9	105,742,032 (GRCm39)	missense	probably benign	0.28
R1839:Col6a5	UTSW	9	105,742,032 (GRCm39)	missense	probably benign	0.28
R1863:Col6a5	UTSW	9	105,817,400 (GRCm39)	missense	unknown
R1900:Col6a5	UTSW	9	105,808,412 (GRCm39)	missense	unknown
R1951:Col6a5	UTSW	9	105,814,156 (GRCm39)	missense	unknown
R2024:Col6a5	UTSW	9	105,814,193 (GRCm39)	missense	unknown
R2126:Col6a5	UTSW	9	105,822,799 (GRCm39)	missense	unknown
R2319:Col6a5	UTSW	9	105,814,417 (GRCm39)	missense	unknown
R2344:Col6a5	UTSW	9	105,805,736 (GRCm39)	missense	unknown
R2483:Col6a5	UTSW	9	105,741,347 (GRCm39)	missense	probably damaging	1.00
R3176:Col6a5	UTSW	9	105,788,306 (GRCm39)	nonsense	probably null
R3276:Col6a5	UTSW	9	105,788,306 (GRCm39)	nonsense	probably null
R3438:Col6a5	UTSW	9	105,752,991 (GRCm39)	missense	possibly damaging	0.88
R3791:Col6a5	UTSW	9	105,741,868 (GRCm39)	missense	probably damaging	0.99
R3840:Col6a5	UTSW	9	105,805,810 (GRCm39)	missense	unknown
R3886:Col6a5	UTSW	9	105,808,129 (GRCm39)	missense	unknown
R3941:Col6a5	UTSW	9	105,817,033 (GRCm39)	missense	unknown
R4194:Col6a5	UTSW	9	105,823,113 (GRCm39)	missense	unknown
R4399:Col6a5	UTSW	9	105,766,164 (GRCm39)	missense	possibly damaging	0.75
R4421:Col6a5	UTSW	9	105,805,672 (GRCm39)	missense	unknown
R4450:Col6a5	UTSW	9	105,781,720 (GRCm39)	missense	unknown
R4491:Col6a5	UTSW	9	105,817,211 (GRCm39)	missense	unknown
R4582:Col6a5	UTSW	9	105,739,963 (GRCm39)	missense	probably benign	0.17
R4693:Col6a5	UTSW	9	105,814,371 (GRCm39)	missense	unknown
R4787:Col6a5	UTSW	9	105,808,280 (GRCm39)	missense	unknown
R4789:Col6a5	UTSW	9	105,814,534 (GRCm39)	missense	unknown
R4791:Col6a5	UTSW	9	105,807,983 (GRCm39)	missense	unknown
R4792:Col6a5	UTSW	9	105,807,983 (GRCm39)	missense	unknown
R4817:Col6a5	UTSW	9	105,811,497 (GRCm39)	missense	unknown
R4854:Col6a5	UTSW	9	105,775,950 (GRCm39)	missense	probably benign	0.18
R4927:Col6a5	UTSW	9	105,811,163 (GRCm39)	missense	unknown
R4969:Col6a5	UTSW	9	105,741,806 (GRCm39)	missense	probably damaging	1.00
R5037:Col6a5	UTSW	9	105,805,337 (GRCm39)	missense	unknown
R5118:Col6a5	UTSW	9	105,814,204 (GRCm39)	missense	unknown
R5144:Col6a5	UTSW	9	105,766,482 (GRCm39)	missense	probably damaging	1.00
R5145:Col6a5	UTSW	9	105,811,444 (GRCm39)	missense	unknown
R5160:Col6a5	UTSW	9	105,808,208 (GRCm39)	missense	unknown
R5182:Col6a5	UTSW	9	105,734,531 (GRCm39)	nonsense	probably null
R5234:Col6a5	UTSW	9	105,741,404 (GRCm39)	missense	probably damaging	1.00
R5252:Col6a5	UTSW	9	105,817,489 (GRCm39)	missense	unknown
R5290:Col6a5	UTSW	9	105,823,282 (GRCm39)	missense	unknown
R5313:Col6a5	UTSW	9	105,822,743 (GRCm39)	missense	unknown
R5321:Col6a5	UTSW	9	105,805,664 (GRCm39)	missense	unknown
R5466:Col6a5	UTSW	9	105,808,282 (GRCm39)	missense	unknown
R5540:Col6a5	UTSW	9	105,739,975 (GRCm39)	missense	probably benign	0.44
R5669:Col6a5	UTSW	9	105,803,197 (GRCm39)	missense	unknown
R5789:Col6a5	UTSW	9	105,741,807 (GRCm39)	missense	possibly damaging	0.91
R5801:Col6a5	UTSW	9	105,825,566 (GRCm39)	missense	unknown
R5827:Col6a5	UTSW	9	105,805,319 (GRCm39)	nonsense	probably null
R5839:Col6a5	UTSW	9	105,822,592 (GRCm39)	critical splice donor site	probably null
R5908:Col6a5	UTSW	9	105,740,000 (GRCm39)	missense	possibly damaging	0.88
R5970:Col6a5	UTSW	9	105,823,046 (GRCm39)	missense	unknown
R6045:Col6a5	UTSW	9	105,803,117 (GRCm39)	missense	unknown
R6107:Col6a5	UTSW	9	105,769,471 (GRCm39)	nonsense	probably null
R6168:Col6a5	UTSW	9	105,752,986 (GRCm39)	critical splice donor site	probably null
R6315:Col6a5	UTSW	9	105,759,169 (GRCm39)	missense	probably damaging	1.00
R6317:Col6a5	UTSW	9	105,766,266 (GRCm39)	missense	probably damaging	1.00
R6414:Col6a5	UTSW	9	105,769,465 (GRCm39)	splice site	probably null
R6434:Col6a5	UTSW	9	105,814,544 (GRCm39)	missense	unknown
R6456:Col6a5	UTSW	9	105,822,676 (GRCm39)	missense	unknown
R6698:Col6a5	UTSW	9	105,811,374 (GRCm39)	missense	unknown
R6876:Col6a5	UTSW	9	105,814,506 (GRCm39)	missense	unknown
R6882:Col6a5	UTSW	9	105,817,469 (GRCm39)	nonsense	probably null
R6928:Col6a5	UTSW	9	105,817,118 (GRCm39)	missense	unknown
R7024:Col6a5	UTSW	9	105,789,674 (GRCm39)	nonsense	probably null
R7038:Col6a5	UTSW	9	105,822,937 (GRCm39)	missense	unknown
R7082:Col6a5	UTSW	9	105,808,438 (GRCm39)	missense	unknown
R7158:Col6a5	UTSW	9	105,741,407 (GRCm39)	missense	possibly damaging	0.90
R7211:Col6a5	UTSW	9	105,805,363 (GRCm39)	missense	unknown
R7431:Col6a5	UTSW	9	105,805,468 (GRCm39)	missense	unknown
R7440:Col6a5	UTSW	9	105,758,630 (GRCm39)	nonsense	probably null
R7502:Col6a5	UTSW	9	105,753,075 (GRCm39)	missense	probably benign	0.05
R7577:Col6a5	UTSW	9	105,741,887 (GRCm39)	nonsense	probably null
R7582:Col6a5	UTSW	9	105,822,625 (GRCm39)	missense	unknown
R7641:Col6a5	UTSW	9	105,758,625 (GRCm39)	nonsense	probably null
R7762:Col6a5	UTSW	9	105,808,523 (GRCm39)	missense	unknown
R7793:Col6a5	UTSW	9	105,775,934 (GRCm39)	missense	probably damaging	1.00
R7821:Col6a5	UTSW	9	105,741,458 (GRCm39)	missense	probably damaging	1.00
R7848:Col6a5	UTSW	9	105,805,385 (GRCm39)	missense	unknown
R7897:Col6a5	UTSW	9	105,766,382 (GRCm39)	missense	possibly damaging	0.96
R7904:Col6a5	UTSW	9	105,805,720 (GRCm39)	missense	unknown
R7960:Col6a5	UTSW	9	105,823,049 (GRCm39)	missense	unknown
R8015:Col6a5	UTSW	9	105,758,940 (GRCm39)	missense	possibly damaging	0.65
R8100:Col6a5	UTSW	9	105,755,839 (GRCm39)	missense	probably damaging	1.00
R8131:Col6a5	UTSW	9	105,778,815 (GRCm39)	missense	unknown
R8418:Col6a5	UTSW	9	105,755,821 (GRCm39)	missense	probably damaging	1.00
R8425:Col6a5	UTSW	9	105,823,156 (GRCm39)	missense	unknown
R8678:Col6a5	UTSW	9	105,811,551 (GRCm39)	missense	unknown
R8690:Col6a5	UTSW	9	105,759,796 (GRCm39)	missense	probably damaging	0.97
R8847:Col6a5	UTSW	9	105,741,472 (GRCm39)	missense	possibly damaging	0.81
R8946:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R8947:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R8949:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R8950:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R9089:Col6a5	UTSW	9	105,766,142 (GRCm39)	missense	probably damaging	1.00
R9118:Col6a5	UTSW	9	105,755,853 (GRCm39)	splice site	probably benign
R9169:Col6a5	UTSW	9	105,822,596 (GRCm39)	missense	unknown
R9177:Col6a5	UTSW	9	105,808,152 (GRCm39)	missense	unknown
R9180:Col6a5	UTSW	9	105,739,178 (GRCm39)	missense	probably damaging	0.99
R9205:Col6a5	UTSW	9	105,755,837 (GRCm39)	missense	probably damaging	1.00
R9214:Col6a5	UTSW	9	105,758,940 (GRCm39)	missense	possibly damaging	0.65
R9224:Col6a5	UTSW	9	105,814,594 (GRCm39)	missense	unknown
R9279:Col6a5	UTSW	9	105,758,976 (GRCm39)	missense	probably damaging	1.00
R9383:Col6a5	UTSW	9	105,803,110 (GRCm39)	missense	unknown
R9427:Col6a5	UTSW	9	105,816,992 (GRCm39)	missense	unknown
R9488:Col6a5	UTSW	9	105,741,788 (GRCm39)	missense	probably damaging	1.00
R9494:Col6a5	UTSW	9	105,822,732 (GRCm39)	missense	unknown
R9659:Col6a5	UTSW	9	105,811,034 (GRCm39)	missense	unknown
R9749:Col6a5	UTSW	9	105,739,190 (GRCm39)	missense	probably damaging	0.98
RF013:Col6a5	UTSW	9	105,755,796 (GRCm39)	frame shift	probably null
X0054:Col6a5	UTSW	9	105,792,357 (GRCm39)	missense	unknown
X0058:Col6a5	UTSW	9	105,758,977 (GRCm39)	nonsense	probably null
Z1088:Col6a5	UTSW	9	105,803,266 (GRCm39)	missense	unknown
Z1177:Col6a5	UTSW	9	105,807,984 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGACCCACATGGCAACAGGA -3'
(R):5'- CTGACGCAGAACGTGAGGCA -3'

Sequencing Primer
(F):5'- gccccacatccacaagtatc -3'
(R):5'- GGCATCACCATCTTTGCAGT -3'

Posted On

2014-05-23