Mutagenetix > Incidental Mutation

Incidental Mutation 'R9360:Col6a6'

708635

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R9360 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105687809-105828160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105767487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1201 (T1201A)

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: T1201A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: T1201A

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: T1201A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: T1201A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430089I19Rik	G	T	5: 94,303,142 (GRCm38)	P375H	probably damaging	Het
Adam4	A	G	12: 81,421,487 (GRCm38)	L120P	probably damaging	Het
Asb6	A	G	2: 30,824,322 (GRCm38)	S259P	probably damaging	Het
Atp6v0a2	C	A	5: 124,629,194 (GRCm38)	S7R	possibly damaging	Het
Btbd16	C	T	7: 130,815,786 (GRCm38)	R344C	probably damaging	Het
Cacna1h	G	A	17: 25,375,362 (GRCm38)	A2274V	probably benign	Het
Caml	A	C	13: 55,623,217 (GRCm38)	N43H	probably damaging	Het
Ccar2	A	G	14: 70,141,996 (GRCm38)	S518P	probably damaging	Het
Cdkl3	A	G	11: 52,033,522 (GRCm38)	I546V	probably null	Het
Chac1	C	T	2: 119,352,373 (GRCm38)	T84I	probably damaging	Het
Csf1	T	C	3: 107,753,842 (GRCm38)	T120A	possibly damaging	Het
Ctsj	T	A	13: 61,003,820 (GRCm38)	I95F	probably benign	Het
Cyp4f17	C	T	17: 32,524,906 (GRCm38)	R353C	probably benign	Het
Depdc1a	A	G	3: 159,526,531 (GRCm38)	M640V	possibly damaging	Het
Dgkq	A	G	5: 108,650,603 (GRCm38)	V633A	probably damaging	Het
Fdft1	A	T	14: 63,177,740 (GRCm38)	Y14*	probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm38)	G125D	probably benign	Het
Gfm2	T	A	13: 97,153,244 (GRCm38)	V179E	probably damaging	Het
Gm813	T	C	16: 58,613,871 (GRCm38)	D161G	probably benign	Het
Gpr12	A	G	5: 146,583,489 (GRCm38)	F208L	probably benign	Het
Greb1	A	G	12: 16,740,036 (GRCm38)	S4P	probably damaging	Het
Hlcs	A	T	16: 94,131,813 (GRCm38)	I717N	probably damaging	Het
Hormad1	G	A	3: 95,576,311 (GRCm38)	A145T	probably benign	Het
Kcmf1	A	T	6: 72,861,843 (GRCm38)	C33*	probably null	Het
Kif13a	A	T	13: 46,808,996 (GRCm38)	S561T	probably benign	Het
Klhl20	G	T	1: 161,093,699 (GRCm38)	P571Q	probably benign	Het
Kpna6	A	T	4: 129,653,842 (GRCm38)	M304K	probably benign	Het
Krt75	T	C	15: 101,568,294 (GRCm38)	K387E	probably damaging	Het
Lum	A	T	10: 97,568,890 (GRCm38)	K216*	probably null	Het
Meioc	A	G	11: 102,674,953 (GRCm38)	N409S	probably benign	Het
Mrpl20	T	C	4: 155,803,945 (GRCm38)		probably null	Het
Naa16	A	T	14: 79,356,503 (GRCm38)	I374N	probably benign	Het
Nbea	A	G	3: 56,035,898 (GRCm38)	I652T	possibly damaging	Het
Nhsl1	G	A	10: 18,319,150 (GRCm38)	G56R	probably damaging	Het
Obscn	T	C	11: 59,082,824 (GRCm38)	I1894V	probably benign	Het
Olfr1288	T	C	2: 111,479,339 (GRCm38)	I185T	probably benign	Het
Olfr157	A	G	4: 43,835,765 (GRCm38)	S242P	probably benign	Het
Olfr510	T	A	7: 108,667,770 (GRCm38)	L118Q	probably damaging	Het
Olfr859	T	A	9: 19,809,233 (GRCm38)	V305D	possibly damaging	Het
Olig2	A	C	16: 91,226,886 (GRCm38)	T163P	probably damaging	Het
Parp4	G	A	14: 56,641,318 (GRCm38)		probably null	Het
Pcdhb2	T	C	18: 37,296,498 (GRCm38)	I508T	probably damaging	Het
Pcdhga8	T	C	18: 37,726,734 (GRCm38)	F281S	probably damaging	Het
Pom121l12	T	A	11: 14,599,516 (GRCm38)	M74K	possibly damaging	Het
Prpf8	T	C	11: 75,490,330 (GRCm38)	Y219H	possibly damaging	Het
Rhag	T	C	17: 40,831,657 (GRCm38)	V251A	possibly damaging	Het
Rrs1	A	G	1: 9,546,620 (GRCm38)	*366W	probably null	Het
Sgpp2	A	G	1: 78,390,506 (GRCm38)	D92G	probably damaging	Het
Slc44a3	C	A	3: 121,532,259 (GRCm38)		probably benign	Het
Smg8	T	C	11: 87,078,130 (GRCm38)	M257V	probably benign	Het
Taar7e	T	A	10: 24,038,051 (GRCm38)	Y146*	probably null	Het
Tet2	G	T	3: 133,487,142 (GRCm38)	N510K	possibly damaging	Het
Tgfbr3	T	C	5: 107,109,684 (GRCm38)	I836M	unknown	Het
Thada	A	G	17: 84,191,982 (GRCm38)	V1929A	probably benign	Het
Tram1l1	A	T	3: 124,322,250 (GRCm38)	D353V	probably damaging	Het
Trf	T	A	9: 103,217,535 (GRCm38)		probably null	Het
Trim15	A	T	17: 36,867,050 (GRCm38)	C18S	probably damaging	Het
Vmn1r62	T	C	7: 5,675,953 (GRCm38)	I211T	probably damaging	Het
Zdhhc17	A	G	10: 110,947,304 (GRCm38)	V501A	probably benign	Het
Zfp563	A	G	17: 33,105,454 (GRCm38)	E341G	probably benign	Het

Other mutations in Col6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Col6a6	APN	9	105,758,191 (GRCm38)	critical splice acceptor site	probably null
IGL00768:Col6a6	APN	9	105,782,412 (GRCm38)	missense	probably benign	0.04
IGL00917:Col6a6	APN	9	105,784,254 (GRCm38)	splice site	probably benign
IGL01385:Col6a6	APN	9	105,783,666 (GRCm38)	missense	probably damaging	1.00
IGL01411:Col6a6	APN	9	105,785,958 (GRCm38)	nonsense	probably null
IGL01508:Col6a6	APN	9	105,727,166 (GRCm38)	splice site	probably benign
IGL01668:Col6a6	APN	9	105,709,271 (GRCm38)	missense	probably damaging	1.00
IGL01733:Col6a6	APN	9	105,709,255 (GRCm38)	missense	possibly damaging	0.92
IGL01932:Col6a6	APN	9	105,689,626 (GRCm38)	missense	probably benign	0.02
IGL01934:Col6a6	APN	9	105,698,659 (GRCm38)	critical splice donor site	probably null
IGL01944:Col6a6	APN	9	105,783,909 (GRCm38)	missense	probably damaging	1.00
IGL01980:Col6a6	APN	9	105,780,985 (GRCm38)	missense	probably damaging	0.96
IGL02114:Col6a6	APN	9	105,767,199 (GRCm38)	critical splice donor site	probably null
IGL02129:Col6a6	APN	9	105,736,340 (GRCm38)	splice site	probably benign
IGL02201:Col6a6	APN	9	105,780,995 (GRCm38)	missense	probably damaging	1.00
IGL02335:Col6a6	APN	9	105,784,101 (GRCm38)	missense	probably damaging	1.00
IGL02541:Col6a6	APN	9	105,732,216 (GRCm38)	missense	probably benign	0.05
IGL02574:Col6a6	APN	9	105,782,191 (GRCm38)	missense	probably damaging	1.00
IGL02649:Col6a6	APN	9	105,727,170 (GRCm38)	critical splice donor site	probably null
IGL02852:Col6a6	APN	9	105,784,073 (GRCm38)	missense	probably damaging	0.99
IGL03278:Col6a6	APN	9	105,709,452 (GRCm38)	missense	probably benign	0.01
IGL03327:Col6a6	APN	9	105,767,234 (GRCm38)	missense	possibly damaging	0.90
PIT4519001:Col6a6	UTSW	9	105,732,263 (GRCm38)	missense	probably benign	0.23
R0042:Col6a6	UTSW	9	105,780,697 (GRCm38)	missense	possibly damaging	0.89
R0046:Col6a6	UTSW	9	105,748,848 (GRCm38)	splice site	probably benign
R0066:Col6a6	UTSW	9	105,702,213 (GRCm38)	missense	probably damaging	0.99
R0066:Col6a6	UTSW	9	105,702,213 (GRCm38)	missense	probably damaging	0.99
R0140:Col6a6	UTSW	9	105,702,275 (GRCm38)	missense	probably damaging	1.00
R0278:Col6a6	UTSW	9	105,767,288 (GRCm38)	missense	possibly damaging	0.87
R0281:Col6a6	UTSW	9	105,784,116 (GRCm38)	missense	probably benign	0.13
R0382:Col6a6	UTSW	9	105,755,555 (GRCm38)	missense	probably damaging	0.98
R0389:Col6a6	UTSW	9	105,784,204 (GRCm38)	missense	probably benign	0.02
R0421:Col6a6	UTSW	9	105,784,206 (GRCm38)	missense	probably benign	0.02
R0502:Col6a6	UTSW	9	105,767,351 (GRCm38)	missense	probably benign	0.04
R0503:Col6a6	UTSW	9	105,767,351 (GRCm38)	missense	probably benign	0.04
R0600:Col6a6	UTSW	9	105,761,440 (GRCm38)	missense	probably damaging	1.00
R0626:Col6a6	UTSW	9	105,777,744 (GRCm38)	missense	probably benign	0.45
R0629:Col6a6	UTSW	9	105,727,165 (GRCm38)	splice site	probably benign
R0690:Col6a6	UTSW	9	105,709,486 (GRCm38)	missense	probably benign	0.01
R1155:Col6a6	UTSW	9	105,782,090 (GRCm38)	missense	possibly damaging	0.64
R1245:Col6a6	UTSW	9	105,748,910 (GRCm38)	missense	possibly damaging	0.62
R1253:Col6a6	UTSW	9	105,774,303 (GRCm38)	missense	probably null	0.98
R1263:Col6a6	UTSW	9	105,709,489 (GRCm38)	missense	probably benign	0.01
R1296:Col6a6	UTSW	9	105,781,091 (GRCm38)	missense	probably damaging	1.00
R1556:Col6a6	UTSW	9	105,709,473 (GRCm38)	missense	possibly damaging	0.82
R1600:Col6a6	UTSW	9	105,778,075 (GRCm38)	missense	probably damaging	1.00
R1612:Col6a6	UTSW	9	105,777,549 (GRCm38)	missense	probably damaging	1.00
R1613:Col6a6	UTSW	9	105,732,211 (GRCm38)	critical splice donor site	probably null
R1830:Col6a6	UTSW	9	105,702,270 (GRCm38)	missense	probably damaging	0.99
R1858:Col6a6	UTSW	9	105,781,102 (GRCm38)	missense	probably damaging	1.00
R1897:Col6a6	UTSW	9	105,785,744 (GRCm38)	missense	possibly damaging	0.74
R1944:Col6a6	UTSW	9	105,709,384 (GRCm38)	missense	probably damaging	1.00
R2366:Col6a6	UTSW	9	105,755,694 (GRCm38)	missense	probably damaging	1.00
R2484:Col6a6	UTSW	9	105,780,804 (GRCm38)	missense	probably damaging	0.98
R3079:Col6a6	UTSW	9	105,754,223 (GRCm38)	missense	probably benign	0.01
R3176:Col6a6	UTSW	9	105,786,230 (GRCm38)	missense	probably benign	0.01
R3276:Col6a6	UTSW	9	105,786,230 (GRCm38)	missense	probably benign	0.01
R3429:Col6a6	UTSW	9	105,777,967 (GRCm38)	missense	probably damaging	1.00
R3716:Col6a6	UTSW	9	105,782,174 (GRCm38)	missense	probably damaging	0.98
R3809:Col6a6	UTSW	9	105,780,692 (GRCm38)	missense	probably damaging	1.00
R3978:Col6a6	UTSW	9	105,698,879 (GRCm38)	missense	probably damaging	0.98
R4087:Col6a6	UTSW	9	105,783,956 (GRCm38)	missense	possibly damaging	0.68
R4382:Col6a6	UTSW	9	105,783,690 (GRCm38)	missense	probably damaging	1.00
R4516:Col6a6	UTSW	9	105,698,949 (GRCm38)	missense	possibly damaging	0.64
R4666:Col6a6	UTSW	9	105,767,342 (GRCm38)	missense	possibly damaging	0.93
R4905:Col6a6	UTSW	9	105,767,424 (GRCm38)	missense	probably damaging	1.00
R4923:Col6a6	UTSW	9	105,788,948 (GRCm38)	missense	probably damaging	1.00
R4951:Col6a6	UTSW	9	105,767,198 (GRCm38)	critical splice donor site	probably null
R5002:Col6a6	UTSW	9	105,786,093 (GRCm38)	missense	probably benign	0.00
R5111:Col6a6	UTSW	9	105,709,474 (GRCm38)	missense	possibly damaging	0.70
R5205:Col6a6	UTSW	9	105,782,033 (GRCm38)	missense	probably damaging	0.99
R5399:Col6a6	UTSW	9	105,709,107 (GRCm38)	missense	possibly damaging	0.50
R5475:Col6a6	UTSW	9	105,774,338 (GRCm38)	missense	probably null	0.79
R5491:Col6a6	UTSW	9	105,738,236 (GRCm38)	missense	probably damaging	0.98
R5758:Col6a6	UTSW	9	105,761,518 (GRCm38)	critical splice acceptor site	probably null
R5934:Col6a6	UTSW	9	105,767,075 (GRCm38)	missense	probably damaging	1.00
R6059:Col6a6	UTSW	9	105,783,917 (GRCm38)	missense	probably damaging	1.00
R6284:Col6a6	UTSW	9	105,727,227 (GRCm38)	splice site	probably null
R6425:Col6a6	UTSW	9	105,698,865 (GRCm38)	missense	probably benign	0.21
R6464:Col6a6	UTSW	9	105,788,953 (GRCm38)	start codon destroyed	probably null	0.60
R6469:Col6a6	UTSW	9	105,698,691 (GRCm38)	missense	probably damaging	0.97
R6520:Col6a6	UTSW	9	105,785,825 (GRCm38)	missense	possibly damaging	0.89
R6552:Col6a6	UTSW	9	105,698,913 (GRCm38)	missense	probably damaging	1.00
R6750:Col6a6	UTSW	9	105,783,680 (GRCm38)	missense	probably damaging	1.00
R6813:Col6a6	UTSW	9	105,783,941 (GRCm38)	missense	probably benign	0.32
R7032:Col6a6	UTSW	9	105,767,508 (GRCm38)	missense	probably damaging	0.96
R7260:Col6a6	UTSW	9	105,783,969 (GRCm38)	missense	probably benign	0.00
R7472:Col6a6	UTSW	9	105,782,423 (GRCm38)	missense	probably damaging	1.00
R7541:Col6a6	UTSW	9	105,767,324 (GRCm38)	missense	probably damaging	1.00
R7640:Col6a6	UTSW	9	105,785,744 (GRCm38)	missense	possibly damaging	0.74
R7645:Col6a6	UTSW	9	105,767,198 (GRCm38)	critical splice donor site	probably null
R7716:Col6a6	UTSW	9	105,783,903 (GRCm38)	missense	possibly damaging	0.84
R7866:Col6a6	UTSW	9	105,689,561 (GRCm38)	missense	probably damaging	0.96
R7938:Col6a6	UTSW	9	105,780,684 (GRCm38)	nonsense	probably null
R8016:Col6a6	UTSW	9	105,767,528 (GRCm38)	missense	possibly damaging	0.73
R8043:Col6a6	UTSW	9	105,699,020 (GRCm38)	missense	probably damaging	0.98
R8073:Col6a6	UTSW	9	105,781,947 (GRCm38)	missense	probably benign	0.01
R8082:Col6a6	UTSW	9	105,783,930 (GRCm38)	nonsense	probably null
R8243:Col6a6	UTSW	9	105,699,269 (GRCm38)	missense	probably damaging	1.00
R8306:Col6a6	UTSW	9	105,784,073 (GRCm38)	missense	probably damaging	0.96
R8324:Col6a6	UTSW	9	105,755,654 (GRCm38)	missense	probably benign	0.25
R8384:Col6a6	UTSW	9	105,755,694 (GRCm38)	missense	probably damaging	1.00
R8400:Col6a6	UTSW	9	105,774,796 (GRCm38)	missense	probably damaging	1.00
R8523:Col6a6	UTSW	9	105,774,788 (GRCm38)	missense	possibly damaging	0.71
R8842:Col6a6	UTSW	9	105,777,967 (GRCm38)	missense	probably damaging	1.00
R8862:Col6a6	UTSW	9	105,786,149 (GRCm38)	missense	probably damaging	1.00
R8907:Col6a6	UTSW	9	105,767,329 (GRCm38)	missense	probably damaging	0.99
R9021:Col6a6	UTSW	9	105,709,546 (GRCm38)	missense	possibly damaging	0.85
R9088:Col6a6	UTSW	9	105,784,077 (GRCm38)	missense	probably damaging	0.99
R9178:Col6a6	UTSW	9	105,781,970 (GRCm38)	missense	probably benign	0.30
R9225:Col6a6	UTSW	9	105,782,238 (GRCm38)	missense	possibly damaging	0.75
R9340:Col6a6	UTSW	9	105,774,558 (GRCm38)	missense	probably damaging	1.00
R9342:Col6a6	UTSW	9	105,785,973 (GRCm38)	missense	probably benign	0.00
R9368:Col6a6	UTSW	9	105,786,101 (GRCm38)	missense	possibly damaging	0.48
R9398:Col6a6	UTSW	9	105,774,626 (GRCm38)	missense	probably benign	0.40
R9450:Col6a6	UTSW	9	105,784,174 (GRCm38)	missense	probably benign
R9454:Col6a6	UTSW	9	105,783,860 (GRCm38)	missense	probably damaging	0.99
R9458:Col6a6	UTSW	9	105,709,162 (GRCm38)	missense	probably benign	0.01
R9563:Col6a6	UTSW	9	105,695,753 (GRCm38)	missense	probably benign	0.02
R9568:Col6a6	UTSW	9	105,780,727 (GRCm38)	missense	possibly damaging	0.58
R9613:Col6a6	UTSW	9	105,739,202 (GRCm38)	missense	probably benign	0.07
R9664:Col6a6	UTSW	9	105,781,055 (GRCm38)	missense	probably benign	0.11
R9747:Col6a6	UTSW	9	105,784,040 (GRCm38)	missense	probably benign	0.29
R9760:Col6a6	UTSW	9	105,782,054 (GRCm38)	missense	probably damaging	0.99
X0022:Col6a6	UTSW	9	105,699,332 (GRCm38)	missense	probably damaging	1.00
Z1176:Col6a6	UTSW	9	105,780,952 (GRCm38)	missense	probably damaging	1.00
Z1177:Col6a6	UTSW	9	105,788,895 (GRCm38)	missense	probably null	0.24
Z1177:Col6a6	UTSW	9	105,728,255 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGCAGGCTGCTTAGTATG -3'
(R):5'- GCCAACTGAAAGACATGTTTATGC -3'

Sequencing Primer
(F):5'- GTTCTCACTGTAGATCTCAAACTTGG -3'
(R):5'- ATAGAAAAATGGCTGTGTGGTTC -3'

Posted On

2022-04-18