Mutagenetix > Incidental Mutation

Incidental Mutation 'R6306:Col28a1'

509649

Institutional Source

Beutler Lab

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

MMRRC Submission

044468-MU

Accession Numbers

Essential gene?

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

Stock #

R6306 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8014969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 812 (E812G)

Ref Sequence

ENSEMBL: ENSMUSP00000111199 (fasta)

Gene Model

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

AlphaFold

Q2UY11

Predicted Effect

probably damaging
Transcript: ENSMUST00000115537
AA Change: E812G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: E812G

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

0.1612

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	A	9: 90,060,331 (GRCm39)		probably null	Het
Adora2a	T	A	10: 75,169,238 (GRCm39)	V234E	probably damaging	Het
Alpk1	T	C	3: 127,479,965 (GRCm39)	D188G	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ankrd17	A	G	5: 90,392,013 (GRCm39)	F1886L	probably benign	Het
Anks1	T	G	17: 28,269,613 (GRCm39)	L769R	probably damaging	Het
Apol10a	A	G	15: 77,373,161 (GRCm39)	I266V	probably benign	Het
Arhgef28	T	C	13: 98,121,896 (GRCm39)	Y556C	probably damaging	Het
Brd8	T	A	18: 34,744,304 (GRCm39)	T175S	probably damaging	Het
Camsap2	C	T	1: 136,208,937 (GRCm39)	V852I	probably benign	Het
Cd55b	G	T	1: 130,341,803 (GRCm39)	P278Q	probably damaging	Het
Cep290	T	A	10: 100,367,028 (GRCm39)	S1126R	possibly damaging	Het
Cfh	C	T	1: 140,030,155 (GRCm39)	C906Y	probably damaging	Het
Chst13	C	A	6: 90,286,260 (GRCm39)	R234L	probably damaging	Het
Clcn7	T	C	17: 25,376,502 (GRCm39)	F611L	probably benign	Het
Cntnap1	A	G	11: 101,075,441 (GRCm39)	D873G	probably damaging	Het
Cntnap5b	T	C	1: 100,091,871 (GRCm39)	I518T	probably damaging	Het
Cpa1	T	C	6: 30,640,953 (GRCm39)	I148T	probably damaging	Het
Cyp11a1	A	G	9: 57,932,383 (GRCm39)	N232S	probably benign	Het
Dhrs13	A	G	11: 77,923,519 (GRCm39)	D79G	probably damaging	Het
Disp1	T	C	1: 182,868,712 (GRCm39)	E1236G	possibly damaging	Het
Dnah1	A	C	14: 31,026,544 (GRCm39)	L778R	probably damaging	Het
Dnah14	CTGTG	CTG	1: 181,412,589 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dock9	A	T	14: 121,799,492 (GRCm39)	I1729N	probably damaging	Het
Dysf	T	C	6: 84,114,248 (GRCm39)	V1192A	possibly damaging	Het
Enpp2	A	G	15: 54,762,742 (GRCm39)	S169P	probably damaging	Het
Fam114a2	T	G	11: 57,404,972 (GRCm39)	R43S	probably damaging	Het
Fam13a	T	C	6: 58,917,239 (GRCm39)	T546A	probably benign	Het
Fos	A	T	12: 85,522,460 (GRCm39)	D163V	probably damaging	Het
Fras1	T	C	5: 96,912,805 (GRCm39)	Y3370H	probably damaging	Het
Fshr	T	C	17: 89,507,961 (GRCm39)	N27S	probably null	Het
Galnt6	A	G	15: 100,591,305 (GRCm39)	S600P	possibly damaging	Het
Gars1	T	A	6: 55,032,809 (GRCm39)	N260K	probably damaging	Het
Gpr158	C	G	2: 21,820,422 (GRCm39)	P640A	possibly damaging	Het
Grep1	T	C	17: 23,925,124 (GRCm39)	N495S	possibly damaging	Het
Grik3	A	G	4: 125,526,205 (GRCm39)	D146G	probably benign	Het
Hdac4	T	C	1: 91,923,896 (GRCm39)	T205A	probably benign	Het
Kcnq3	T	C	15: 65,876,643 (GRCm39)	D500G	probably benign	Het
Kmt5c	A	G	7: 4,749,480 (GRCm39)	K333E	probably benign	Het
Krt81	A	G	15: 101,357,404 (GRCm39)	S443P	probably benign	Het
M6pr	T	C	6: 122,292,121 (GRCm39)		probably null	Het
Mccc2	T	A	13: 100,130,085 (GRCm39)	I91L	probably benign	Het
Nip7	A	G	8: 107,785,055 (GRCm39)	D110G	probably damaging	Het
Nol8	T	A	13: 49,829,829 (GRCm39)	F1093I	probably damaging	Het
Nrxn1	T	C	17: 90,872,874 (GRCm39)	T1027A	possibly damaging	Het
Ofcc1	T	A	13: 40,302,052 (GRCm39)	M495L	probably benign	Het
Or13p10	A	T	4: 118,523,490 (GRCm39)	M259L	probably benign	Het
Or7e178	A	G	9: 20,225,742 (GRCm39)	M158T	probably benign	Het
Pafah1b2	A	T	9: 45,886,425 (GRCm39)	V81D	probably damaging	Het
Pcdhga4	A	T	18: 37,818,966 (GRCm39)	S172C	probably damaging	Het
Pds5a	A	G	5: 65,813,639 (GRCm39)	V282A	probably damaging	Het
Plat	A	G	8: 23,262,282 (GRCm39)	D102G	possibly damaging	Het
Plce1	C	A	19: 38,757,909 (GRCm39)	Q1961K	probably damaging	Het
Plppr3	T	A	10: 79,697,566 (GRCm39)	K444*	probably null	Het
Plscr3	A	G	11: 69,738,472 (GRCm39)		probably null	Het
Prtg	A	T	9: 72,813,468 (GRCm39)	T943S	probably benign	Het
Racgap1	A	G	15: 99,521,834 (GRCm39)	F519L	probably benign	Het
Rbms2	A	T	10: 127,987,050 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,237 (GRCm39)	T476A	possibly damaging	Het
Rnf150	T	A	8: 83,810,131 (GRCm39)	L421Q	possibly damaging	Het
Sema3b	A	G	9: 107,478,119 (GRCm39)	L422P	possibly damaging	Het
Shank2	G	A	7: 143,963,417 (GRCm39)	A921T	probably benign	Het
Skint3	A	T	4: 112,113,072 (GRCm39)	E227D	probably damaging	Het
Slc25a19	G	A	11: 115,508,386 (GRCm39)	R201C	possibly damaging	Het
Slc38a10	G	T	11: 120,038,645 (GRCm39)	A40D	probably damaging	Het
Slc5a4b	T	C	10: 75,917,185 (GRCm39)	T284A	probably benign	Het
Smc1b	A	T	15: 85,011,824 (GRCm39)	F154I	probably benign	Het
Spry2	A	T	14: 106,130,418 (GRCm39)	M256K	possibly damaging	Het
Stkld1	C	T	2: 26,833,899 (GRCm39)	P129S	probably damaging	Het
Syce2	T	C	8: 85,599,371 (GRCm39)	L13S	possibly damaging	Het
Tbc1d15	C	A	10: 115,069,148 (GRCm39)	V74L	possibly damaging	Het
Tecpr2	T	A	12: 110,911,185 (GRCm39)	V1074D	probably damaging	Het
Tex36	G	A	7: 133,197,054 (GRCm39)	T21I	probably benign	Het
Ttn	T	G	2: 76,554,454 (GRCm39)	D30787A	probably damaging	Het
Ttn	T	A	2: 76,622,264 (GRCm39)	Q13710L	probably benign	Het
Usp34	T	C	11: 23,362,260 (GRCm39)	F1569L	possibly damaging	Het
Vat1l	C	T	8: 115,098,391 (GRCm39)	A387V	probably damaging	Het
Vil1	G	A	1: 74,460,470 (GRCm39)	G209D	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,792 (GRCm39)	D195Y	probably damaging	Het
Vmn2r69	A	C	7: 85,064,799 (GRCm39)	I29R	probably benign	Het
Vti1b	G	A	12: 79,207,323 (GRCm39)	Q76*	probably null	Het
Zfp423	C	A	8: 88,508,662 (GRCm39)	V540F	possibly damaging	Het
Zfp644	T	C	5: 106,785,990 (GRCm39)	N186D	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp787	G	A	7: 6,135,360 (GRCm39)	A297V	probably damaging	Het
Zfp827	G	T	8: 79,787,324 (GRCm39)	Q163H	probably damaging	Het
Zfp955b	T	A	17: 33,522,160 (GRCm39)	V543E	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
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
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'- TGGCTGTATAGGTGCCTTCC -3'
(R):5'- TCCACTTAAACAGGAGCAGAAG -3'

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

Posted On

2018-04-02