Mutagenetix > Incidental Mutation

Incidental Mutation 'R6379:Col28a1'

515196

Institutional Source

Beutler Lab

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

Col28; Gm466

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8012996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1019 (M1019V)

Ref Sequence

ENSEMBL: ENSMUSP00000111199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115537]

AlphaFold

Q2UY11

Predicted Effect

probably benign
Transcript: ENSMUST00000115537
AA Change: M1019V

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

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: M1019V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWA	46	225	8.08e-18	SMART
low complexity region	245	260	N/A	INTRINSIC
internal_repeat_1	261	304	1.56e-15	PROSPERO
low complexity region	306	363	N/A	INTRINSIC
low complexity region	375	422	N/A	INTRINSIC
low complexity region	438	479	N/A	INTRINSIC
internal_repeat_4	481	531	4.11e-8	PROSPERO
Pfam:Collagen	534	591	1.5e-8	PFAM
low complexity region	640	661	N/A	INTRINSIC
low complexity region	667	684	N/A	INTRINSIC
internal_repeat_4	690	739	4.11e-8	PROSPERO
internal_repeat_1	711	763	1.56e-15	PROSPERO
internal_repeat_5	713	769	4.35e-6	PROSPERO
low complexity region	771	789	N/A	INTRINSIC
VWA	796	973	1.57e-38	SMART
KU	1086	1139	8.16e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,243,734	I99F	probably benign	Het
2010111I01Rik	T	A	13: 63,068,243	I443K	probably damaging	Het
6820408C15Rik	A	T	2: 152,427,992	R21S	probably benign	Het
9130011E15Rik	A	T	19: 45,921,697	V472D	possibly damaging	Het
9430007A20Rik	G	T	4: 144,522,342	R93L	probably benign	Het
9530053A07Rik	A	C	7: 28,157,592	T2122P	probably damaging	Het
Adcy5	A	T	16: 35,293,999	T991S	probably benign	Het
Aldh18a1	A	T	19: 40,577,770		probably null	Het
Anxa1	T	C	19: 20,373,715	*347W	probably null	Het
Arid1a	G	T	4: 133,680,927	L2090I	unknown	Het
Bambi	T	A	18: 3,512,198	L194Q	probably damaging	Het
Card9	A	G	2: 26,356,777	V353A	probably damaging	Het
Ccdc60	C	A	5: 116,131,023		probably null	Het
Ccdc71	A	G	9: 108,463,612	K208R	possibly damaging	Het
Cdh12	T	C	15: 21,492,657	V254A	probably benign	Het
Cep295nl	T	A	11: 118,333,730	N96I	probably benign	Het
Ces1f	C	A	8: 93,279,651	C17F	probably benign	Het
Clic6	C	A	16: 92,539,535	T577K	probably damaging	Het
Ctnnd2	C	A	15: 30,634,698	S73Y	probably damaging	Het
Daam1	C	T	12: 71,951,938	L556F	unknown	Het
Dchs2	A	C	3: 83,355,146	N2907T	probably damaging	Het
Dlgap3	A	C	4: 127,234,974	E829A	probably damaging	Het
Dpysl5	A	T	5: 30,777,973		probably null	Het
Draxin	C	A	4: 148,107,943	C304F	probably damaging	Het
Eif3j1	A	G	2: 122,047,524	D131G	possibly damaging	Het
Fads1	T	C	19: 10,183,187	Y46H	probably damaging	Het
Figla	T	A	6: 86,018,580	I72K	probably damaging	Het
Fnbp4	T	A	2: 90,751,124	S174T	probably benign	Het
Foxn3	C	A	12: 99,196,278	A455S	probably benign	Het
Fyn	C	T	10: 39,455,074		probably benign	Het
Gm17727	T	A	9: 35,778,085		probably benign	Het
Gtse1	G	A	15: 85,864,224	G277S	probably benign	Het
Hist1h2bn	T	A	13: 21,754,418	V99E	probably benign	Het
Icam4	C	A	9: 21,029,782	A110E	probably damaging	Het
Itih3	G	A	14: 30,909,724	S802L	probably damaging	Het
Kcng4	T	A	8: 119,633,620	R6*	probably null	Het
Kmt2c	A	T	5: 25,359,341	C977S	probably damaging	Het
Lrrc8d	A	T	5: 105,812,809	M362L	probably benign	Het
Mtus2	T	C	5: 148,077,198	I267T	probably benign	Het
Nab1	A	G	1: 52,480,997	V275A	probably damaging	Het
Nfasc	G	A	1: 132,570,542	Q1308*	probably null	Het
Nop9	T	C	14: 55,745,792	S7P	possibly damaging	Het
Npbwr1	G	T	1: 5,917,219	N25K	probably benign	Het
Nptx2	T	C	5: 144,553,442	L227P	probably damaging	Het
Nrg1	T	C	8: 32,883,721		probably benign	Het
Nup160	T	A	2: 90,702,409	C571*	probably null	Het
Nynrin	T	C	14: 55,870,391	L985P	probably damaging	Het
Obsl1	A	C	1: 75,503,143	L341R	probably damaging	Het
Olfr398	T	G	11: 73,984,273	S112R	probably damaging	Het
Phip	G	T	9: 82,913,857	N570K	probably damaging	Het
Pigx	A	T	16: 32,084,523	I240N	probably damaging	Het
Platr25	T	C	13: 62,706,237	D37G	probably damaging	Het
Ppl	A	T	16: 5,097,691	M639K	probably benign	Het
Pqlc2	G	A	4: 139,299,985	L349F	probably benign	Het
Scnn1b	T	G	7: 121,915,328	M441R	probably benign	Het
Sh3gl1	A	T	17: 56,019,143	M121K	probably damaging	Het
Slc30a4	A	T	2: 122,689,549	V132D	probably damaging	Het
Slc38a7	A	G	8: 95,848,527	S42P	probably benign	Het
Srp68	A	G	11: 116,265,401	C172R	probably damaging	Het
Suz12	A	T	11: 80,015,188	D292V	possibly damaging	Het
Sv2b	A	T	7: 75,136,300	D457E	possibly damaging	Het
Tas2r120	T	C	6: 132,657,810	V285A	probably benign	Het
Tdo2	T	A	3: 81,958,795		probably benign	Het
Them7	G	T	2: 105,284,686		probably null	Het
Tnip2	T	C	5: 34,503,635	T158A	probably damaging	Het
Tonsl	C	T	15: 76,629,742	R1209H	probably benign	Het
Trpc2	T	A	7: 102,096,091	L838*	probably null	Het
Trpm1	A	G	7: 64,199,194	I63V	probably benign	Het
Vps13d	A	T	4: 145,088,258	N90K	probably benign	Het
Ylpm1	C	T	12: 85,030,800	S1433F	probably damaging	Het
Zbtb18	A	G	1: 177,447,575	D158G	probably damaging	Het
Zfhx2	T	A	14: 55,074,338	T300S	probably benign	Het
Zscan2	T	A	7: 80,863,337	D23E	probably benign	Het

Other mutations in Col28a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Col28a1	APN	6	8014795	missense	probably damaging	1.00
IGL00329:Col28a1	APN	6	8175425	missense	probably damaging	1.00
IGL00466:Col28a1	APN	6	8022081	splice site	probably benign
IGL00544:Col28a1	APN	6	8162228	critical splice acceptor site	probably null
IGL00979:Col28a1	APN	6	8014810	missense	probably damaging	1.00
IGL01475:Col28a1	APN	6	8103521	missense	probably damaging	0.98
IGL01570:Col28a1	APN	6	8014540	missense	probably damaging	0.99
IGL01688:Col28a1	APN	6	7998517	missense	probably damaging	1.00
IGL01734:Col28a1	APN	6	8158134	missense	probably damaging	0.99
IGL01911:Col28a1	APN	6	8014963	missense	probably damaging	1.00
IGL01922:Col28a1	APN	6	8158133	missense	probably damaging	0.96
IGL02567:Col28a1	APN	6	8014819	missense	possibly damaging	0.91
IGL02641:Col28a1	APN	6	8014794	nonsense	probably null
IGL02893:Col28a1	APN	6	8103534	missense	probably damaging	1.00
IGL03062:Col28a1	APN	6	8017029	splice site	probably benign
IGL03273:Col28a1	APN	6	8103484	splice site	probably benign
P0043:Col28a1	UTSW	6	8168152	unclassified	probably benign
R0034:Col28a1	UTSW	6	8175708	missense	probably benign	0.32
R0543:Col28a1	UTSW	6	8075326	splice site	probably benign
R0646:Col28a1	UTSW	6	8175291	missense	possibly damaging	0.88
R0726:Col28a1	UTSW	6	8014495	critical splice donor site	probably null
R1013:Col28a1	UTSW	6	7999452	splice site	probably benign
R1054:Col28a1	UTSW	6	8175534	missense	probably damaging	0.96
R1671:Col28a1	UTSW	6	8083773	missense	possibly damaging	0.84
R1804:Col28a1	UTSW	6	8164612	critical splice donor site	probably null
R1853:Col28a1	UTSW	6	8014574	missense	probably benign	0.03
R1906:Col28a1	UTSW	6	7999644	missense	probably benign	0.14
R1914:Col28a1	UTSW	6	8176333	missense	probably benign	0.08
R1915:Col28a1	UTSW	6	8176333	missense	probably benign	0.08
R1954:Col28a1	UTSW	6	7998516	missense	probably damaging	1.00
R1997:Col28a1	UTSW	6	7999644	missense	probably benign	0.14
R2011:Col28a1	UTSW	6	8059360	missense	probably benign	0.05
R2023:Col28a1	UTSW	6	8083783	missense	possibly damaging	0.66
R2149:Col28a1	UTSW	6	8155383	missense	possibly damaging	0.83
R2285:Col28a1	UTSW	6	8097078	missense	probably damaging	0.98
R2403:Col28a1	UTSW	6	8175641	missense	possibly damaging	0.79
R3615:Col28a1	UTSW	6	8014942	missense	probably damaging	1.00
R3616:Col28a1	UTSW	6	8014942	missense	probably damaging	1.00
R3837:Col28a1	UTSW	6	8014601	missense	possibly damaging	0.81
R4042:Col28a1	UTSW	6	8014678	missense	probably damaging	0.98
R4084:Col28a1	UTSW	6	8013131	nonsense	probably null
R4084:Col28a1	UTSW	6	8013132	missense	possibly damaging	0.49
R4417:Col28a1	UTSW	6	8175666	missense	possibly damaging	0.62
R4838:Col28a1	UTSW	6	8014559	missense	probably benign	0.11
R5752:Col28a1	UTSW	6	8015025	missense	possibly damaging	0.79
R5807:Col28a1	UTSW	6	8158144	missense	probably benign	0.00
R6038:Col28a1	UTSW	6	8013140	missense	probably benign	0.03
R6038:Col28a1	UTSW	6	8013140	missense	probably benign	0.03
R6046:Col28a1	UTSW	6	8168102	splice site	probably null
R6054:Col28a1	UTSW	6	8083748	missense	possibly damaging	0.96
R6159:Col28a1	UTSW	6	8162247	splice site	probably null
R6306:Col28a1	UTSW	6	8014969	missense	probably damaging	0.96
R6665:Col28a1	UTSW	6	8062277	missense	probably benign	0.08
R6809:Col28a1	UTSW	6	7999468	missense	probably damaging	0.99
R7023:Col28a1	UTSW	6	8083763	missense	possibly damaging	0.92
R7101:Col28a1	UTSW	6	8014795	missense	possibly damaging	0.95
R7117:Col28a1	UTSW	6	8013122	missense	possibly damaging	0.89
R7375:Col28a1	UTSW	6	7998499	missense	possibly damaging	0.46
R8236:Col28a1	UTSW	6	8097024	critical splice donor site	probably null
R8272:Col28a1	UTSW	6	8154175	missense	possibly damaging	0.92
R8559:Col28a1	UTSW	6	8166681	missense	unknown
R8712:Col28a1	UTSW	6	8013133	missense	probably benign	0.32
R8782:Col28a1	UTSW	6	8175227	missense	unknown
R8838:Col28a1	UTSW	6	8091839	critical splice donor site	probably null
R8885:Col28a1	UTSW	6	8127360	splice site	probably benign
R9132:Col28a1	UTSW	6	8014993	missense	probably damaging	1.00
R9153:Col28a1	UTSW	6	8022765	missense	probably benign	0.03
R9159:Col28a1	UTSW	6	8014993	missense	probably damaging	1.00
R9310:Col28a1	UTSW	6	8175414	missense	unknown
R9327:Col28a1	UTSW	6	8175653	missense	unknown
R9423:Col28a1	UTSW	6	7999601	missense	probably benign	0.34
Z1177:Col28a1	UTSW	6	8062283	missense	possibly damaging	0.52
Z1177:Col28a1	UTSW	6	8127352	missense	probably damaging	1.00
Z1177:Col28a1	UTSW	6	8175630	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTTCATGTTATAAGTTCCAGGGC -3'
(R):5'- ACAGTGCTGTTCTCCTTAAAGAGG -3'

Sequencing Primer
(F):5'- CATGTTATAAGTTCCAGGGCTATTTC -3'
(R):5'- GAGTAAAGTTTCTCTGCTTTCACTG -3'

Posted On

2018-05-04