Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Col28a1'

268395

Institutional Source

Beutler Lab

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

Col28; Gm466

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8014942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 821 (V821A)

Ref Sequence

ENSEMBL: ENSMUSP00000111199 (fasta)

Gene Model

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

AlphaFold

Q2UY11

Predicted Effect

probably damaging
Transcript: ENSMUST00000115537
AA Change: V821A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: V821A

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

Meta Mutation Damage Score

0.5703

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	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
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
R6379:Col28a1	UTSW	6	8012996	missense	probably benign	0.00
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'- TGGCTGTATAGGTGCCTTCC -3'
(R):5'- TCCACTTAAACAGGAGCAGAAG -3'

Sequencing Primer
(F):5'- GTATAGGTGCCTTCCCCCAGATAC -3'
(R):5'- TTGCCACTGTCCTATGGATATAG -3'

Posted On

2015-02-19