Mutagenetix > Incidental Mutation

Incidental Mutation 'R5540:Col6a5'

435893

Institutional Source

Beutler Lab

Gene Symbol

Col6a5

Ensembl Gene

ENSMUSG00000091345

Gene Name

collagen, type VI, alpha 5

Synonyms

Gm7455, Col6a5

MMRRC Submission

043098-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R5540 (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 105739975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 2548 (E2548V)

Ref Sequence

ENSEMBL: ENSMUSP00000139398 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165165
AA Change: E2548V

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: E2548V

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

probably benign
Transcript: ENSMUST00000190193
AA Change: E2548V

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: E2548V

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,012,371 (GRCm39)	S15P	probably damaging	Het
Actl7a	A	T	4: 56,744,388 (GRCm39)	H305L	probably benign	Het
Adam26b	C	A	8: 43,974,654 (GRCm39)	C116F	probably damaging	Het
Adgrl2	A	G	3: 148,543,198 (GRCm39)		probably null	Het
Akr1b10	A	G	6: 34,371,047 (GRCm39)	T238A	probably damaging	Het
Akr1c18	A	G	13: 4,187,178 (GRCm39)	V186A	probably benign	Het
Alpk3	G	A	7: 80,745,184 (GRCm39)	V1311M	probably damaging	Het
Aox1	A	G	1: 58,143,569 (GRCm39)	N1229S	probably benign	Het
Apobec3	T	A	15: 79,782,120 (GRCm39)	N43K	probably benign	Het
Arid1a	A	C	4: 133,407,765 (GRCm39)	D2247E	unknown	Het
Asph	A	G	4: 9,635,906 (GRCm39)	L77S	probably damaging	Het
Cd300ld	T	A	11: 114,878,231 (GRCm39)	T94S	probably damaging	Het
Celf2	T	C	2: 6,558,743 (GRCm39)	T382A	probably benign	Het
Cfap54	C	T	10: 92,808,470 (GRCm39)	A1402T	possibly damaging	Het
Chrnb1	A	T	11: 69,686,476 (GRCm39)	V48E	probably benign	Het
Crebrf	A	G	17: 26,961,071 (GRCm39)	D56G	possibly damaging	Het
Dctn5	A	G	7: 121,734,275 (GRCm39)	T40A	probably benign	Het
Dmxl2	A	T	9: 54,301,141 (GRCm39)	N2323K	probably benign	Het
Dync1h1	A	G	12: 110,627,384 (GRCm39)	Q4021R	probably benign	Het
Dyrk1a	T	G	16: 94,486,202 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,039,610 (GRCm39)	F454Y	probably damaging	Het
Fbxo38	A	G	18: 62,647,864 (GRCm39)		probably null	Het
Flg	T	C	3: 93,184,923 (GRCm39)	F15S	probably damaging	Het
Fndc3b	G	A	3: 27,555,651 (GRCm39)	P301L	probably damaging	Het
Fpr-rs7	C	T	17: 20,334,356 (GRCm39)	G45R	probably damaging	Het
Garin3	A	G	11: 46,295,715 (GRCm39)	N29S	probably damaging	Het
Gfi1	T	A	5: 107,867,991 (GRCm39)	T360S	probably damaging	Het
Grik4	T	C	9: 42,432,243 (GRCm39)	H918R	probably damaging	Het
Hpx	A	G	7: 105,241,119 (GRCm39)	S385P	possibly damaging	Het
Kdm5b	A	G	1: 134,558,979 (GRCm39)	D1501G	probably damaging	Het
Kif20b	A	T	19: 34,915,860 (GRCm39)	M546L	probably benign	Het
Map3k9	G	T	12: 81,819,587 (GRCm39)	N222K	probably damaging	Het
Me1	A	G	9: 86,561,926 (GRCm39)	L53P	possibly damaging	Het
Mis18bp1	T	C	12: 65,195,520 (GRCm39)	E748G	possibly damaging	Het
Morc3	T	A	16: 93,644,268 (GRCm39)	N186K	probably benign	Het
Mtor	A	G	4: 148,539,165 (GRCm39)	T221A	probably benign	Het
Muc6	A	G	7: 141,235,850 (GRCm39)		probably null	Het
Myh8	C	A	11: 67,177,266 (GRCm39)	T444N	probably benign	Het
Myo7b	A	G	18: 32,140,143 (GRCm39)	Y216H	probably damaging	Het
Myom1	G	A	17: 71,416,782 (GRCm39)	V1382M	probably damaging	Het
Nbeal2	A	T	9: 110,460,801 (GRCm39)	Y1718N	probably damaging	Het
Npc1l1	A	G	11: 6,164,546 (GRCm39)	S1168P	probably damaging	Het
Or4c58	A	G	2: 89,675,011 (GRCm39)	F102S	probably damaging	Het
Or4d2	T	A	11: 87,784,511 (GRCm39)	K80*	probably null	Het
Or51f5	C	T	7: 102,424,136 (GRCm39)	A135V	probably benign	Het
Or5an9	T	A	19: 12,187,824 (GRCm39)	I298N	probably damaging	Het
Or6c8b	G	T	10: 128,882,364 (GRCm39)	D189E	probably damaging	Het
Pcdha4	C	A	18: 37,087,890 (GRCm39)	A691E	probably benign	Het
Pde6a	T	G	18: 61,364,438 (GRCm39)	F165V	probably damaging	Het
Ptpn14	A	T	1: 189,578,561 (GRCm39)	M340L	probably benign	Het
Rnasel	G	T	1: 153,630,890 (GRCm39)	E469*	probably null	Het
Rsph3a	T	G	17: 8,164,790 (GRCm39)	L50R	probably benign	Het
Rusc2	A	G	4: 43,423,975 (GRCm39)	Y1043C	probably damaging	Het
Serpinb6b	A	T	13: 33,161,541 (GRCm39)	K86*	probably null	Het
Serpine1	T	C	5: 137,092,063 (GRCm39)	T392A	probably benign	Het
Shcbp1	A	T	8: 4,794,529 (GRCm39)	D421E	probably damaging	Het
Slc24a1	A	G	9: 64,855,863 (GRCm39)	V348A	unknown	Het
Slc26a7	A	G	4: 14,506,621 (GRCm39)	F605L	probably benign	Het
Slc66a1	A	T	4: 139,027,655 (GRCm39)	L229Q	probably damaging	Het
Spag17	A	C	3: 99,963,588 (GRCm39)	E1102A	possibly damaging	Het
Stab2	A	G	10: 86,683,989 (GRCm39)	V2390A	probably benign	Het
Stk11	A	G	10: 79,961,883 (GRCm39)	I35V	probably benign	Het
Stk24	T	C	14: 121,531,693 (GRCm39)	D321G	possibly damaging	Het
Tbx4	A	T	11: 85,801,994 (GRCm39)	N209I	possibly damaging	Het
Tmem225	T	C	9: 40,060,681 (GRCm39)	L80P	probably damaging	Het
Tnfrsf4	C	T	4: 156,098,380 (GRCm39)	T17I	probably benign	Het
Traf3ip1	G	A	1: 91,429,037 (GRCm39)	R268Q	probably benign	Het
Trhde	T	A	10: 114,636,497 (GRCm39)	I237F	probably benign	Het
Ugt2a1	A	T	5: 87,633,915 (GRCm39)	W231R	probably damaging	Het
Vash1	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	12: 86,726,831 (GRCm39)		probably benign	Het
Vps16	T	A	2: 130,284,305 (GRCm39)	D685E	probably benign	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Wdr59	A	G	8: 112,211,816 (GRCm39)	L377P	possibly damaging	Het
Wdr81	T	C	11: 75,339,896 (GRCm39)	E1364G	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
R1759:Col6a5	UTSW	9	105,808,045 (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
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'- TTGCTCAGCCCAAATCCTAC -3'
(R):5'- CTTTCAATGCCAGCATGCCG -3'

Sequencing Primer
(F):5'- TCCTACATCCTGAAATGAAAATGC -3'
(R):5'- AATGCCAGCATGCCGACTTTG -3'

Posted On

2016-10-24