Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01475:Col28a1'

88411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8103521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 425 (L425S)

Ref Sequence

ENSEMBL: ENSMUSP00000111199 (fasta)

Gene Model

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

AlphaFold

Q2UY11

Predicted Effect

probably damaging
Transcript: ENSMUST00000115537
AA Change: L425S

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

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: L425S

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	T	14: 59,380,252 (GRCm39)	N15K	possibly damaging	Het
Adam32	A	T	8: 25,362,664 (GRCm39)	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,584,843 (GRCm39)	S942G	probably benign	Het
Adamtsl5	A	G	10: 80,180,750 (GRCm39)	F104S	probably damaging	Het
Adgrf5	A	G	17: 43,761,245 (GRCm39)	D980G	probably benign	Het
Apba1	A	T	19: 23,894,950 (GRCm39)	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,634,433 (GRCm39)		probably benign	Het
Cd74	T	C	18: 60,943,393 (GRCm39)		probably benign	Het
Cdc16	T	C	8: 13,831,542 (GRCm39)	S592P	probably benign	Het
Cenpj	A	G	14: 56,802,502 (GRCm39)	M21T	possibly damaging	Het
Dbt	C	T	3: 116,313,908 (GRCm39)	T25I	possibly damaging	Het
Dguok	C	A	6: 83,467,552 (GRCm39)	M98I	possibly damaging	Het
Dmxl1	T	C	18: 50,004,781 (GRCm39)	L943P	probably damaging	Het
Eloa	G	A	4: 135,738,231 (GRCm39)	S243L	probably benign	Het
Enkur	C	A	2: 21,201,530 (GRCm39)	A52S	probably damaging	Het
Ezh1	T	C	11: 101,083,787 (GRCm39)	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,672,101 (GRCm39)	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,666,550 (GRCm39)		probably benign	Het
Gabra5	C	T	7: 57,058,432 (GRCm39)	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,617,541 (GRCm39)	V207D	probably damaging	Het
Hoatz	A	G	9: 51,011,358 (GRCm39)	I93T	probably benign	Het
Krt76	A	G	15: 101,796,948 (GRCm39)	V317A	probably benign	Het
Lair1	C	A	7: 4,012,683 (GRCm39)		probably benign	Het
Lrit2	T	A	14: 36,791,051 (GRCm39)	H243Q	probably damaging	Het
Mast3	C	T	8: 71,232,174 (GRCm39)	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,671 (GRCm39)	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,897,502 (GRCm39)	F137I	probably damaging	Het
Mreg	T	C	1: 72,203,325 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,651,272 (GRCm39)	V684A	possibly damaging	Het
Pate2	T	A	9: 35,580,998 (GRCm39)	L1Q	probably null	Het
Pla2r1	T	C	2: 60,271,425 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,331,870 (GRCm39)	F447L	possibly damaging	Het
Pno1	A	T	11: 17,160,992 (GRCm39)	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,288,540 (GRCm39)		probably benign	Het
Pprc1	T	A	19: 46,059,968 (GRCm39)	Y1503N	probably benign	Het
Rab30	T	C	7: 92,484,930 (GRCm39)	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,679,024 (GRCm39)	T439A	probably benign	Het
Slc29a3	A	G	10: 60,559,596 (GRCm39)	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,165,454 (GRCm39)	T88I	possibly damaging	Het
Tarbp1	A	G	8: 127,160,701 (GRCm39)	V1250A	probably benign	Het
Tcte2	A	T	17: 13,937,824 (GRCm39)		probably benign	Het
Trp53bp1	A	T	2: 121,100,800 (GRCm39)		probably null	Het
Trpc4	A	T	3: 54,173,828 (GRCm39)	L407F	possibly damaging	Het
Vmn1r6	T	C	6: 56,979,896 (GRCm39)	F164S	probably damaging	Het
Zfp579	C	A	7: 4,997,743 (GRCm39)	R56L	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
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
R4042:Col28a1	UTSW	6	8,014,678 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2013-11-18