Mutagenetix > Incidental Mutation

Incidental Mutation 'R1613:Col6a6'

176945

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

039650-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105566616-105705413 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 105609410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098441] [ENSMUST00000166431]

AlphaFold

Q8C6K9

Predicted Effect

probably null
Transcript: ENSMUST00000098441

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
VWA	24	197	4.26e-26	SMART
VWA	226	407	1.06e-30	SMART
VWA	433	610	5.19e-39	SMART
VWA	619	795	3.58e-42	SMART
VWA	806	982	6.64e-37	SMART
VWA	997	1175	2.7e-37	SMART
VWA	1184	1370	3.45e-1	SMART
Pfam:Collagen	1389	1450	3.3e-9	PFAM
low complexity region	1451	1475	N/A	INTRINSIC
low complexity region	1490	1508	N/A	INTRINSIC
low complexity region	1602	1623	N/A	INTRINSIC
low complexity region	1698	1724	N/A	INTRINSIC
VWA	1754	1937	1.73e-17	SMART
VWA	1962	2145	4.4e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166431

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
VWA	24	197	4.26e-26	SMART
VWA	226	407	1.06e-30	SMART
VWA	433	610	5.19e-39	SMART
VWA	619	795	3.58e-42	SMART
VWA	806	982	6.64e-37	SMART
VWA	997	1175	2.7e-37	SMART
VWA	1184	1370	3.45e-1	SMART
Pfam:Collagen	1389	1450	9.3e-10	PFAM
low complexity region	1451	1475	N/A	INTRINSIC
low complexity region	1490	1508	N/A	INTRINSIC
low complexity region	1602	1623	N/A	INTRINSIC
low complexity region	1698	1724	N/A	INTRINSIC
VWA	1754	1937	1.73e-17	SMART
VWA	1962	2145	4.4e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195709

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

82% (69/84)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aldh3a1	A	T	11: 61,105,377 (GRCm39)	D161V	probably damaging	Het
Aloxe3	A	G	11: 69,020,872 (GRCm39)	D199G	possibly damaging	Het
Amfr	T	A	8: 94,725,854 (GRCm39)	M176L	probably benign	Het
Amigo1	A	T	3: 108,095,536 (GRCm39)	E345V	probably benign	Het
Atp13a3	T	C	16: 30,151,118 (GRCm39)	Y1064C	probably damaging	Het
Brd7	A	T	8: 89,073,578 (GRCm39)	C271S	probably benign	Het
Bub1b	T	A	2: 118,470,222 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,499,522 (GRCm39)	I887F	probably damaging	Het
Ceacam14	T	C	7: 17,547,973 (GRCm39)		probably benign	Het
Cntn1	T	A	15: 92,143,871 (GRCm39)	V278E	possibly damaging	Het
Cspp1	C	T	1: 10,203,466 (GRCm39)	R1016C	probably damaging	Het
Cyp2c39	A	G	19: 39,527,455 (GRCm39)	Y267C	probably damaging	Het
Cyp2c67	C	T	19: 39,614,643 (GRCm39)	V295I	probably benign	Het
Cyp2d40	T	C	15: 82,645,640 (GRCm39)	T122A	unknown	Het
Dennd10	T	A	19: 60,810,763 (GRCm39)	V171D	possibly damaging	Het
Dmxl2	A	G	9: 54,289,311 (GRCm39)	I2541T	probably benign	Het
Eif3e	G	A	15: 43,113,620 (GRCm39)	A438V	possibly damaging	Het
Fam178b	C	A	1: 36,639,273 (GRCm39)	W342L	probably benign	Het
Fam78a	G	T	2: 31,959,581 (GRCm39)	N176K	probably damaging	Het
Ghrhr	A	T	6: 55,356,682 (GRCm39)	K93M	probably damaging	Het
Gm1527	T	A	3: 28,953,002 (GRCm39)		probably null	Het
Gm1553	G	A	10: 82,328,430 (GRCm39)		probably benign	Het
Gm5885	G	A	6: 133,508,205 (GRCm39)		noncoding transcript	Het
Gm8674	G	A	13: 50,056,474 (GRCm39)		noncoding transcript	Het
Hoxc6	C	T	15: 102,918,017 (GRCm39)		probably benign	Het
Ino80	T	C	2: 119,223,348 (GRCm39)	T1189A	probably damaging	Het
Iqgap1	T	C	7: 80,418,205 (GRCm39)	E55G	probably damaging	Het
Kcnh2	G	A	5: 24,527,760 (GRCm39)		probably benign	Het
Lama1	G	A	17: 68,114,918 (GRCm39)	G2356S	probably benign	Het
Mdfic	T	A	6: 15,799,589 (GRCm39)		probably null	Het
Me3	T	C	7: 89,435,628 (GRCm39)		probably benign	Het
Mmadhc	T	C	2: 50,170,338 (GRCm39)	D258G	probably damaging	Het
Nfe2	T	C	15: 103,157,556 (GRCm39)	D145G	probably damaging	Het
Nkapd1	T	C	9: 50,519,105 (GRCm39)	K169R	probably damaging	Het
Or10j3b	C	T	1: 173,043,434 (GRCm39)	T72I	probably benign	Het
Or1ad1	T	A	11: 50,876,045 (GRCm39)	N172K	probably damaging	Het
Or1j20	A	C	2: 36,760,405 (GRCm39)	I276L	possibly damaging	Het
Or2y1e	A	G	11: 49,218,520 (GRCm39)	Y94C	probably damaging	Het
Or4a67	T	C	2: 88,598,149 (GRCm39)	N170S	probably damaging	Het
Or4k1	A	C	14: 50,377,751 (GRCm39)	L115R	probably damaging	Het
Or5al5	A	T	2: 85,961,407 (GRCm39)	L200Q	probably damaging	Het
P4ha3	A	T	7: 99,962,457 (GRCm39)	D405V	possibly damaging	Het
Palmd	T	C	3: 116,717,153 (GRCm39)	D448G	probably damaging	Het
Pclo	T	C	5: 14,729,146 (GRCm39)		probably benign	Het
Pcsk6	A	G	7: 65,560,059 (GRCm39)		probably benign	Het
Pidd1	T	C	7: 141,020,690 (GRCm39)	E469G	probably damaging	Het
Ptpn13	A	G	5: 103,684,737 (GRCm39)	D875G	possibly damaging	Het
Rasgrf2	A	G	13: 92,050,740 (GRCm39)	L886P	probably damaging	Het
Scrib	G	A	15: 75,920,391 (GRCm39)	R1454C	probably damaging	Het
Slc24a1	A	G	9: 64,855,978 (GRCm39)	S310P	unknown	Het
Slc44a5	A	G	3: 153,963,351 (GRCm39)		probably null	Het
Snx4	T	G	16: 33,106,416 (GRCm39)	M283R	probably damaging	Het
Snx7	A	T	3: 117,623,222 (GRCm39)		probably benign	Het
Stk19	A	T	17: 35,043,574 (GRCm39)	L212H	probably damaging	Het
Sult2a4	T	C	7: 13,723,420 (GRCm39)	K32E	probably damaging	Het
Tfrc	T	A	16: 32,442,193 (GRCm39)	Y473N	probably damaging	Het
Tlr2	C	G	3: 83,744,660 (GRCm39)	L474F	probably damaging	Het
Tnfrsf4	T	A	4: 156,100,619 (GRCm39)	F213I	probably benign	Het
Trim9	A	T	12: 70,295,169 (GRCm39)	I651N	probably damaging	Het
Vmn1r84	T	A	7: 12,096,460 (GRCm39)	I78L	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,356 (GRCm39)	Y561H	probably damaging	Het
Vmn2r95	A	G	17: 18,660,901 (GRCm39)		probably benign	Het
Zfp11	T	C	5: 129,735,431 (GRCm39)	N10S	probably benign	Het
Zfp81	A	T	17: 33,553,757 (GRCm39)	H352Q	probably damaging	Het
Zscan5b	T	A	7: 6,233,374 (GRCm39)	L66Q	probably damaging	Het

Other mutations in Col6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Col6a6	APN	9	105,635,390 (GRCm39)	critical splice acceptor site	probably null
IGL00768:Col6a6	APN	9	105,659,611 (GRCm39)	missense	probably benign	0.04
IGL00917:Col6a6	APN	9	105,661,453 (GRCm39)	splice site	probably benign
IGL01385:Col6a6	APN	9	105,660,865 (GRCm39)	missense	probably damaging	1.00
IGL01411:Col6a6	APN	9	105,663,157 (GRCm39)	nonsense	probably null
IGL01508:Col6a6	APN	9	105,604,365 (GRCm39)	splice site	probably benign
IGL01668:Col6a6	APN	9	105,586,470 (GRCm39)	missense	probably damaging	1.00
IGL01733:Col6a6	APN	9	105,586,454 (GRCm39)	missense	possibly damaging	0.92
IGL01932:Col6a6	APN	9	105,566,825 (GRCm39)	missense	probably benign	0.02
IGL01934:Col6a6	APN	9	105,575,858 (GRCm39)	critical splice donor site	probably null
IGL01944:Col6a6	APN	9	105,661,108 (GRCm39)	missense	probably damaging	1.00
IGL01980:Col6a6	APN	9	105,658,184 (GRCm39)	missense	probably damaging	0.96
IGL02114:Col6a6	APN	9	105,644,398 (GRCm39)	critical splice donor site	probably null
IGL02129:Col6a6	APN	9	105,613,539 (GRCm39)	splice site	probably benign
IGL02201:Col6a6	APN	9	105,658,194 (GRCm39)	missense	probably damaging	1.00
IGL02335:Col6a6	APN	9	105,661,300 (GRCm39)	missense	probably damaging	1.00
IGL02541:Col6a6	APN	9	105,609,415 (GRCm39)	missense	probably benign	0.05
IGL02574:Col6a6	APN	9	105,659,390 (GRCm39)	missense	probably damaging	1.00
IGL02649:Col6a6	APN	9	105,604,369 (GRCm39)	critical splice donor site	probably null
IGL02852:Col6a6	APN	9	105,661,272 (GRCm39)	missense	probably damaging	0.99
IGL03278:Col6a6	APN	9	105,586,651 (GRCm39)	missense	probably benign	0.01
IGL03327:Col6a6	APN	9	105,644,433 (GRCm39)	missense	possibly damaging	0.90
PIT4519001:Col6a6	UTSW	9	105,609,462 (GRCm39)	missense	probably benign	0.23
R0042:Col6a6	UTSW	9	105,657,896 (GRCm39)	missense	possibly damaging	0.89
R0046:Col6a6	UTSW	9	105,626,047 (GRCm39)	splice site	probably benign
R0066:Col6a6	UTSW	9	105,579,412 (GRCm39)	missense	probably damaging	0.99
R0066:Col6a6	UTSW	9	105,579,412 (GRCm39)	missense	probably damaging	0.99
R0140:Col6a6	UTSW	9	105,579,474 (GRCm39)	missense	probably damaging	1.00
R0278:Col6a6	UTSW	9	105,644,487 (GRCm39)	missense	possibly damaging	0.87
R0281:Col6a6	UTSW	9	105,661,315 (GRCm39)	missense	probably benign	0.13
R0382:Col6a6	UTSW	9	105,632,754 (GRCm39)	missense	probably damaging	0.98
R0389:Col6a6	UTSW	9	105,661,403 (GRCm39)	missense	probably benign	0.02
R0421:Col6a6	UTSW	9	105,661,405 (GRCm39)	missense	probably benign	0.02
R0502:Col6a6	UTSW	9	105,644,550 (GRCm39)	missense	probably benign	0.04
R0503:Col6a6	UTSW	9	105,644,550 (GRCm39)	missense	probably benign	0.04
R0600:Col6a6	UTSW	9	105,638,639 (GRCm39)	missense	probably damaging	1.00
R0626:Col6a6	UTSW	9	105,654,943 (GRCm39)	missense	probably benign	0.45
R0629:Col6a6	UTSW	9	105,604,364 (GRCm39)	splice site	probably benign
R0690:Col6a6	UTSW	9	105,586,685 (GRCm39)	missense	probably benign	0.01
R1155:Col6a6	UTSW	9	105,659,289 (GRCm39)	missense	possibly damaging	0.64
R1245:Col6a6	UTSW	9	105,626,109 (GRCm39)	missense	possibly damaging	0.62
R1253:Col6a6	UTSW	9	105,651,502 (GRCm39)	missense	probably null	0.98
R1263:Col6a6	UTSW	9	105,586,688 (GRCm39)	missense	probably benign	0.01
R1296:Col6a6	UTSW	9	105,658,290 (GRCm39)	missense	probably damaging	1.00
R1556:Col6a6	UTSW	9	105,586,672 (GRCm39)	missense	possibly damaging	0.82
R1600:Col6a6	UTSW	9	105,655,274 (GRCm39)	missense	probably damaging	1.00
R1612:Col6a6	UTSW	9	105,654,748 (GRCm39)	missense	probably damaging	1.00
R1830:Col6a6	UTSW	9	105,579,469 (GRCm39)	missense	probably damaging	0.99
R1858:Col6a6	UTSW	9	105,658,301 (GRCm39)	missense	probably damaging	1.00
R1897:Col6a6	UTSW	9	105,662,943 (GRCm39)	missense	possibly damaging	0.74
R1944:Col6a6	UTSW	9	105,586,583 (GRCm39)	missense	probably damaging	1.00
R2366:Col6a6	UTSW	9	105,632,893 (GRCm39)	missense	probably damaging	1.00
R2484:Col6a6	UTSW	9	105,658,003 (GRCm39)	missense	probably damaging	0.98
R3079:Col6a6	UTSW	9	105,631,422 (GRCm39)	missense	probably benign	0.01
R3176:Col6a6	UTSW	9	105,663,429 (GRCm39)	missense	probably benign	0.01
R3276:Col6a6	UTSW	9	105,663,429 (GRCm39)	missense	probably benign	0.01
R3429:Col6a6	UTSW	9	105,655,166 (GRCm39)	missense	probably damaging	1.00
R3716:Col6a6	UTSW	9	105,659,373 (GRCm39)	missense	probably damaging	0.98
R3809:Col6a6	UTSW	9	105,657,891 (GRCm39)	missense	probably damaging	1.00
R3978:Col6a6	UTSW	9	105,576,078 (GRCm39)	missense	probably damaging	0.98
R4087:Col6a6	UTSW	9	105,661,155 (GRCm39)	missense	possibly damaging	0.68
R4382:Col6a6	UTSW	9	105,660,889 (GRCm39)	missense	probably damaging	1.00
R4516:Col6a6	UTSW	9	105,576,148 (GRCm39)	missense	possibly damaging	0.64
R4666:Col6a6	UTSW	9	105,644,541 (GRCm39)	missense	possibly damaging	0.93
R4905:Col6a6	UTSW	9	105,644,623 (GRCm39)	missense	probably damaging	1.00
R4923:Col6a6	UTSW	9	105,666,147 (GRCm39)	missense	probably damaging	1.00
R4951:Col6a6	UTSW	9	105,644,397 (GRCm39)	critical splice donor site	probably null
R5002:Col6a6	UTSW	9	105,663,292 (GRCm39)	missense	probably benign	0.00
R5111:Col6a6	UTSW	9	105,586,673 (GRCm39)	missense	possibly damaging	0.70
R5205:Col6a6	UTSW	9	105,659,232 (GRCm39)	missense	probably damaging	0.99
R5399:Col6a6	UTSW	9	105,586,306 (GRCm39)	missense	possibly damaging	0.50
R5475:Col6a6	UTSW	9	105,651,537 (GRCm39)	missense	probably null	0.79
R5491:Col6a6	UTSW	9	105,615,435 (GRCm39)	missense	probably damaging	0.98
R5758:Col6a6	UTSW	9	105,638,717 (GRCm39)	critical splice acceptor site	probably null
R5934:Col6a6	UTSW	9	105,644,274 (GRCm39)	missense	probably damaging	1.00
R6059:Col6a6	UTSW	9	105,661,116 (GRCm39)	missense	probably damaging	1.00
R6284:Col6a6	UTSW	9	105,604,426 (GRCm39)	splice site	probably null
R6425:Col6a6	UTSW	9	105,576,064 (GRCm39)	missense	probably benign	0.21
R6464:Col6a6	UTSW	9	105,666,152 (GRCm39)	start codon destroyed	probably null	0.60
R6469:Col6a6	UTSW	9	105,575,890 (GRCm39)	missense	probably damaging	0.97
R6520:Col6a6	UTSW	9	105,663,024 (GRCm39)	missense	possibly damaging	0.89
R6552:Col6a6	UTSW	9	105,576,112 (GRCm39)	missense	probably damaging	1.00
R6750:Col6a6	UTSW	9	105,660,879 (GRCm39)	missense	probably damaging	1.00
R6813:Col6a6	UTSW	9	105,661,140 (GRCm39)	missense	probably benign	0.32
R7032:Col6a6	UTSW	9	105,644,707 (GRCm39)	missense	probably damaging	0.96
R7260:Col6a6	UTSW	9	105,661,168 (GRCm39)	missense	probably benign	0.00
R7472:Col6a6	UTSW	9	105,659,622 (GRCm39)	missense	probably damaging	1.00
R7541:Col6a6	UTSW	9	105,644,523 (GRCm39)	missense	probably damaging	1.00
R7640:Col6a6	UTSW	9	105,662,943 (GRCm39)	missense	possibly damaging	0.74
R7645:Col6a6	UTSW	9	105,644,397 (GRCm39)	critical splice donor site	probably null
R7716:Col6a6	UTSW	9	105,661,102 (GRCm39)	missense	possibly damaging	0.84
R7866:Col6a6	UTSW	9	105,566,760 (GRCm39)	missense	probably damaging	0.96
R7938:Col6a6	UTSW	9	105,657,883 (GRCm39)	nonsense	probably null
R8016:Col6a6	UTSW	9	105,644,727 (GRCm39)	missense	possibly damaging	0.73
R8043:Col6a6	UTSW	9	105,576,219 (GRCm39)	missense	probably damaging	0.98
R8073:Col6a6	UTSW	9	105,659,146 (GRCm39)	missense	probably benign	0.01
R8082:Col6a6	UTSW	9	105,661,129 (GRCm39)	nonsense	probably null
R8243:Col6a6	UTSW	9	105,576,468 (GRCm39)	missense	probably damaging	1.00
R8306:Col6a6	UTSW	9	105,661,272 (GRCm39)	missense	probably damaging	0.96
R8324:Col6a6	UTSW	9	105,632,853 (GRCm39)	missense	probably benign	0.25
R8384:Col6a6	UTSW	9	105,632,893 (GRCm39)	missense	probably damaging	1.00
R8400:Col6a6	UTSW	9	105,651,995 (GRCm39)	missense	probably damaging	1.00
R8523:Col6a6	UTSW	9	105,651,987 (GRCm39)	missense	possibly damaging	0.71
R8842:Col6a6	UTSW	9	105,655,166 (GRCm39)	missense	probably damaging	1.00
R8862:Col6a6	UTSW	9	105,663,348 (GRCm39)	missense	probably damaging	1.00
R8907:Col6a6	UTSW	9	105,644,528 (GRCm39)	missense	probably damaging	0.99
R9021:Col6a6	UTSW	9	105,586,745 (GRCm39)	missense	possibly damaging	0.85
R9088:Col6a6	UTSW	9	105,661,276 (GRCm39)	missense	probably damaging	0.99
R9178:Col6a6	UTSW	9	105,659,169 (GRCm39)	missense	probably benign	0.30
R9225:Col6a6	UTSW	9	105,659,437 (GRCm39)	missense	possibly damaging	0.75
R9340:Col6a6	UTSW	9	105,651,757 (GRCm39)	missense	probably damaging	1.00
R9342:Col6a6	UTSW	9	105,663,172 (GRCm39)	missense	probably benign	0.00
R9360:Col6a6	UTSW	9	105,644,686 (GRCm39)	missense	probably benign	0.00
R9368:Col6a6	UTSW	9	105,663,300 (GRCm39)	missense	possibly damaging	0.48
R9398:Col6a6	UTSW	9	105,651,825 (GRCm39)	missense	probably benign	0.40
R9450:Col6a6	UTSW	9	105,661,373 (GRCm39)	missense	probably benign
R9454:Col6a6	UTSW	9	105,661,059 (GRCm39)	missense	probably damaging	0.99
R9458:Col6a6	UTSW	9	105,586,361 (GRCm39)	missense	probably benign	0.01
R9563:Col6a6	UTSW	9	105,572,952 (GRCm39)	missense	probably benign	0.02
R9568:Col6a6	UTSW	9	105,657,926 (GRCm39)	missense	possibly damaging	0.58
R9613:Col6a6	UTSW	9	105,616,401 (GRCm39)	missense	probably benign	0.07
R9664:Col6a6	UTSW	9	105,658,254 (GRCm39)	missense	probably benign	0.11
R9747:Col6a6	UTSW	9	105,661,239 (GRCm39)	missense	probably benign	0.29
R9760:Col6a6	UTSW	9	105,659,253 (GRCm39)	missense	probably damaging	0.99
X0022:Col6a6	UTSW	9	105,576,531 (GRCm39)	missense	probably damaging	1.00
Z1176:Col6a6	UTSW	9	105,658,151 (GRCm39)	missense	probably damaging	1.00
Z1177:Col6a6	UTSW	9	105,666,094 (GRCm39)	missense	probably null	0.24
Z1177:Col6a6	UTSW	9	105,605,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATGCTGAGCTAGAGCCCCTGAC -3'
(R):5'- CGTTTGGACACGGAGACTCACAAAG -3'

Sequencing Primer
(F):5'- TAGAGCCCCTGACCTCATC -3'
(R):5'- GTAGGATCAGCTTAGCCTGTAACTC -3'

Posted On

2014-04-24