Mutagenetix > Incidental Mutation

Incidental Mutation 'R4042:Col28a1'

315769

Institutional Source

Beutler Lab

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

MMRRC Submission

040851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4042 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8014678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 909 (S909F)

Ref Sequence

ENSEMBL: ENSMUSP00000111199 (fasta)

Gene Model

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

AlphaFold

Q2UY11

Predicted Effect

probably damaging
Transcript: ENSMUST00000115537
AA Change: S909F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: S909F

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	A	G	17: 33,768,514 (GRCm39)	H864R	possibly damaging	Het
Akap6	A	T	12: 53,186,162 (GRCm39)		probably null	Het
Alox5	A	G	6: 116,437,979 (GRCm39)	S3P	possibly damaging	Het
Bcl2l2	G	A	14: 55,122,091 (GRCm39)	E85K	possibly damaging	Het
Chd6	A	T	2: 160,830,253 (GRCm39)	I1014N	probably damaging	Het
Cog1	A	T	11: 113,551,836 (GRCm39)	Q156L	probably damaging	Het
Csmd3	C	T	15: 47,477,480 (GRCm39)	G3339D	probably damaging	Het
Cst11	A	G	2: 148,613,200 (GRCm39)	S42P	probably benign	Het
Cyp2d10	C	T	15: 82,290,269 (GRCm39)	R67H	probably benign	Het
Fsip2	G	T	2: 82,813,896 (GRCm39)	R3405L	probably benign	Het
H2-Ab1	T	C	17: 34,483,834 (GRCm39)	V65A	probably benign	Het
Hdac6	T	C	X: 7,797,731 (GRCm39)	T993A	probably benign	Het
Insrr	T	A	3: 87,721,134 (GRCm39)	M1095K	probably damaging	Het
Itih4	A	T	14: 30,616,995 (GRCm39)	N517I	probably damaging	Het
Krt10	C	T	11: 99,277,819 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,118 (GRCm39)	F187I	probably damaging	Het
Miga2	T	C	2: 30,257,738 (GRCm39)	I12T	possibly damaging	Het
Muc5b	T	C	7: 141,418,624 (GRCm39)	Y3857H	possibly damaging	Het
Ncoa1	A	G	12: 4,317,871 (GRCm39)	S165P	probably damaging	Het
Or5bb10	A	T	19: 12,206,676 (GRCm39)	I83N	probably benign	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plxnb1	A	G	9: 108,934,241 (GRCm39)	D823G	probably benign	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Ppp4r3c1	A	G	X: 88,975,909 (GRCm39)	F96S	probably damaging	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Prune2	T	C	19: 16,981,190 (GRCm39)		probably null	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Homo
Rgl2	C	T	17: 34,156,236 (GRCm39)	R775W	probably damaging	Het
Rpp40	A	G	13: 36,082,549 (GRCm39)	C275R	probably benign	Het
Rrm2	T	C	12: 24,761,450 (GRCm39)	Y162H	probably benign	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Syne1	T	C	10: 4,991,584 (GRCm39)	M8377V	probably benign	Het
Uchl4	A	C	9: 64,142,839 (GRCm39)	I107L	probably benign	Het
Ush1c	T	C	7: 45,870,952 (GRCm39)	E276G	probably damaging	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Ythdc1	T	C	5: 86,964,383 (GRCm39)	I76T	probably benign	Het

Other mutations in Col28a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Col28a1	APN	6	8,014,795 (GRCm39)	missense	probably damaging	1.00
IGL00329:Col28a1	APN	6	8,175,425 (GRCm39)	missense	probably damaging	1.00
IGL00466:Col28a1	APN	6	8,022,081 (GRCm39)	splice site	probably benign
IGL00544:Col28a1	APN	6	8,162,228 (GRCm39)	critical splice acceptor site	probably null
IGL00979:Col28a1	APN	6	8,014,810 (GRCm39)	missense	probably damaging	1.00
IGL01475:Col28a1	APN	6	8,103,521 (GRCm39)	missense	probably damaging	0.98
IGL01570:Col28a1	APN	6	8,014,540 (GRCm39)	missense	probably damaging	0.99
IGL01688:Col28a1	APN	6	7,998,517 (GRCm39)	missense	probably damaging	1.00
IGL01734:Col28a1	APN	6	8,158,134 (GRCm39)	missense	probably damaging	0.99
IGL01911:Col28a1	APN	6	8,014,963 (GRCm39)	missense	probably damaging	1.00
IGL01922:Col28a1	APN	6	8,158,133 (GRCm39)	missense	probably damaging	0.96
IGL02567:Col28a1	APN	6	8,014,819 (GRCm39)	missense	possibly damaging	0.91
IGL02641:Col28a1	APN	6	8,014,794 (GRCm39)	nonsense	probably null
IGL02893:Col28a1	APN	6	8,103,534 (GRCm39)	missense	probably damaging	1.00
IGL03062:Col28a1	APN	6	8,017,029 (GRCm39)	splice site	probably benign
IGL03273:Col28a1	APN	6	8,103,484 (GRCm39)	splice site	probably benign
P0043:Col28a1	UTSW	6	8,168,152 (GRCm39)	unclassified	probably benign
R0034:Col28a1	UTSW	6	8,175,708 (GRCm39)	missense	probably benign	0.32
R0543:Col28a1	UTSW	6	8,075,326 (GRCm39)	splice site	probably benign
R0646:Col28a1	UTSW	6	8,175,291 (GRCm39)	missense	possibly damaging	0.88
R0726:Col28a1	UTSW	6	8,014,495 (GRCm39)	critical splice donor site	probably null
R1013:Col28a1	UTSW	6	7,999,452 (GRCm39)	splice site	probably benign
R1054:Col28a1	UTSW	6	8,175,534 (GRCm39)	missense	probably damaging	0.96
R1671:Col28a1	UTSW	6	8,083,773 (GRCm39)	missense	possibly damaging	0.84
R1804:Col28a1	UTSW	6	8,164,612 (GRCm39)	critical splice donor site	probably null
R1853:Col28a1	UTSW	6	8,014,574 (GRCm39)	missense	probably benign	0.03
R1906:Col28a1	UTSW	6	7,999,644 (GRCm39)	missense	probably benign	0.14
R1914:Col28a1	UTSW	6	8,176,333 (GRCm39)	missense	probably benign	0.08
R1915:Col28a1	UTSW	6	8,176,333 (GRCm39)	missense	probably benign	0.08
R1954:Col28a1	UTSW	6	7,998,516 (GRCm39)	missense	probably damaging	1.00
R1997:Col28a1	UTSW	6	7,999,644 (GRCm39)	missense	probably benign	0.14
R2011:Col28a1	UTSW	6	8,059,360 (GRCm39)	missense	probably benign	0.05
R2023:Col28a1	UTSW	6	8,083,783 (GRCm39)	missense	possibly damaging	0.66
R2149:Col28a1	UTSW	6	8,155,383 (GRCm39)	missense	possibly damaging	0.83
R2285:Col28a1	UTSW	6	8,097,078 (GRCm39)	missense	probably damaging	0.98
R2403:Col28a1	UTSW	6	8,175,641 (GRCm39)	missense	possibly damaging	0.79
R3615:Col28a1	UTSW	6	8,014,942 (GRCm39)	missense	probably damaging	1.00
R3616:Col28a1	UTSW	6	8,014,942 (GRCm39)	missense	probably damaging	1.00
R3837:Col28a1	UTSW	6	8,014,601 (GRCm39)	missense	possibly damaging	0.81
R4084:Col28a1	UTSW	6	8,013,132 (GRCm39)	missense	possibly damaging	0.49
R4084:Col28a1	UTSW	6	8,013,131 (GRCm39)	nonsense	probably null
R4417:Col28a1	UTSW	6	8,175,666 (GRCm39)	missense	possibly damaging	0.62
R4838:Col28a1	UTSW	6	8,014,559 (GRCm39)	missense	probably benign	0.11
R5752:Col28a1	UTSW	6	8,015,025 (GRCm39)	missense	possibly damaging	0.79
R5807:Col28a1	UTSW	6	8,158,144 (GRCm39)	missense	probably benign	0.00
R6038:Col28a1	UTSW	6	8,013,140 (GRCm39)	missense	probably benign	0.03
R6038:Col28a1	UTSW	6	8,013,140 (GRCm39)	missense	probably benign	0.03
R6046:Col28a1	UTSW	6	8,168,102 (GRCm39)	splice site	probably null
R6054:Col28a1	UTSW	6	8,083,748 (GRCm39)	missense	possibly damaging	0.96
R6159:Col28a1	UTSW	6	8,162,247 (GRCm39)	splice site	probably null
R6306:Col28a1	UTSW	6	8,014,969 (GRCm39)	missense	probably damaging	0.96
R6379:Col28a1	UTSW	6	8,012,996 (GRCm39)	missense	probably benign	0.00
R6665:Col28a1	UTSW	6	8,062,277 (GRCm39)	missense	probably benign	0.08
R6809:Col28a1	UTSW	6	7,999,468 (GRCm39)	missense	probably damaging	0.99
R7023:Col28a1	UTSW	6	8,083,763 (GRCm39)	missense	possibly damaging	0.92
R7101:Col28a1	UTSW	6	8,014,795 (GRCm39)	missense	possibly damaging	0.95
R7117:Col28a1	UTSW	6	8,013,122 (GRCm39)	missense	possibly damaging	0.89
R7375:Col28a1	UTSW	6	7,998,499 (GRCm39)	missense	possibly damaging	0.46
R8236:Col28a1	UTSW	6	8,097,024 (GRCm39)	critical splice donor site	probably null
R8272:Col28a1	UTSW	6	8,154,175 (GRCm39)	missense	possibly damaging	0.92
R8559:Col28a1	UTSW	6	8,166,681 (GRCm39)	missense	unknown
R8712:Col28a1	UTSW	6	8,013,133 (GRCm39)	missense	probably benign	0.32
R8782:Col28a1	UTSW	6	8,175,227 (GRCm39)	missense	unknown
R8838:Col28a1	UTSW	6	8,091,839 (GRCm39)	critical splice donor site	probably null
R8885:Col28a1	UTSW	6	8,127,360 (GRCm39)	splice site	probably benign
R9132:Col28a1	UTSW	6	8,014,993 (GRCm39)	missense	probably damaging	1.00
R9153:Col28a1	UTSW	6	8,022,765 (GRCm39)	missense	probably benign	0.03
R9159:Col28a1	UTSW	6	8,014,993 (GRCm39)	missense	probably damaging	1.00
R9310:Col28a1	UTSW	6	8,175,414 (GRCm39)	missense	unknown
R9327:Col28a1	UTSW	6	8,175,653 (GRCm39)	missense	unknown
R9423:Col28a1	UTSW	6	7,999,601 (GRCm39)	missense	probably benign	0.34
Z1177:Col28a1	UTSW	6	8,175,630 (GRCm39)	missense	unknown
Z1177:Col28a1	UTSW	6	8,127,352 (GRCm39)	missense	probably damaging	1.00
Z1177:Col28a1	UTSW	6	8,062,283 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AGGTATTGTGACACTGCAAAGAAC -3'
(R):5'- GAAGCAGTTTTCCAGCAAGG -3'

Sequencing Primer
(F):5'- AGTGCAGACTACCTTGCAG -3'
(R):5'- CCAGCAAGGATGACTTCAAGCTG -3'

Posted On

2015-05-15