Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01570:Col28a1'

91109

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 #

IGL01570

Quality Score

Status

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8014540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 955 (D955V)

Ref Sequence

ENSEMBL: ENSMUSP00000111199 (fasta)

Gene Model

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

AlphaFold

Q2UY11

Predicted Effect

probably damaging
Transcript: ENSMUST00000115537
AA Change: D955V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: D955V

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,378,748 (GRCm39)	S54P	probably damaging	Het
Adam5	A	G	8: 25,300,839 (GRCm39)	V230A	probably damaging	Het
Arid4b	T	A	13: 14,361,394 (GRCm39)		probably benign	Het
Cep250	T	G	2: 155,809,583 (GRCm39)		probably benign	Het
Gm7676	A	G	8: 13,946,311 (GRCm39)		noncoding transcript	Het
Hao1	A	G	2: 134,396,120 (GRCm39)	S45P	probably damaging	Het
Hars2	A	T	18: 36,920,645 (GRCm39)	I163L	probably benign	Het
Iqgap1	T	C	7: 80,372,809 (GRCm39)	Y1510C	possibly damaging	Het
Itga4	G	A	2: 79,152,978 (GRCm39)		probably null	Het
Kif18b	G	A	11: 102,803,217 (GRCm39)	H498Y	probably benign	Het
Kin	C	T	2: 10,096,763 (GRCm39)	T204M	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,840,807 (GRCm39)	T1009I	probably benign	Het
Mad1l1	A	G	5: 140,103,032 (GRCm39)	S489P	probably benign	Het
Memo1	A	G	17: 74,524,103 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,091,633 (GRCm39)	H103L	probably benign	Het
Nhlrc2	T	A	19: 56,563,219 (GRCm39)	F273I	possibly damaging	Het
Or10g7	T	C	9: 39,905,625 (GRCm39)	I173T	probably damaging	Het
Or1e26	C	A	11: 73,480,209 (GRCm39)	M118I	probably benign	Het
Or5p4	A	T	7: 107,680,480 (GRCm39)	T160S	probably benign	Het
Pappa2	A	C	1: 158,642,110 (GRCm39)	Y1315*	probably null	Het
Pdzk1ip1	C	T	4: 114,946,214 (GRCm39)	P25S	possibly damaging	Het
Ppp2r5d	A	T	17: 46,998,843 (GRCm39)	V73D	possibly damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Qars1	C	T	9: 108,388,738 (GRCm39)	T266M	probably damaging	Het
Slc26a2	A	C	18: 61,331,332 (GRCm39)	C700G	possibly damaging	Het
Zfp638	C	A	6: 83,924,829 (GRCm39)	A724E	probably damaging	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
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

2013-12-09