Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Col6a6'

555121

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105566616-105705413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105609462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1609 (P1609S)

Ref Sequence

ENSEMBL: ENSMUSP00000096040 (fasta)

Gene Model

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

AlphaFold

Q8C6K9

Predicted Effect

probably benign
Transcript: ENSMUST00000098441
AA Change: P1609S

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: P1609S

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

possibly damaging
Transcript: ENSMUST00000166431
AA Change: P1609S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: P1609S

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

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Alx4	T	A	2: 93,505,773 (GRCm39)	C292S	probably benign	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Coil	C	T	11: 88,863,552 (GRCm39)		probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Fgg	A	T	3: 82,920,246 (GRCm39)	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,684,995 (GRCm39)	R30S	probably benign	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Scrn3	T	C	2: 73,148,768 (GRCm39)	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,161,347 (GRCm39)	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Taf1b	T	A	12: 24,597,118 (GRCm39)	Y352*	probably null	Het
Tas2r120	T	A	6: 132,634,297 (GRCm39)	N126K	probably benign	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	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
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
R1613:Col6a6	UTSW	9	105,609,410 (GRCm39)	critical splice donor site	probably null
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'- TGCTGGCTCTCCAAGAATCC -3'
(R):5'- AGCATAATCATTTAGGCCACATCTG -3'

Sequencing Primer
(F):5'- GCCAGTGCTTACAGGCAAC -3'
(R):5'- ACATCTGGCCAGGGTTGC -3'

Posted On

2019-06-07