Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Col28a1'

700944

Institutional Source

Beutler Lab

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

MMRRC Submission

068751-MU

Accession Numbers

Essential gene?

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

Stock #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 8127360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111199 (fasta)

Gene Model

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

AlphaFold

Q2UY11

Predicted Effect

probably benign
Transcript: ENSMUST00000115537

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,525 (GRCm39)	S977C	possibly damaging	Het
Abca8a	T	A	11: 109,960,305 (GRCm39)	D646V	probably damaging	Het
Adss2	T	A	1: 177,597,526 (GRCm39)	Y378F	probably damaging	Het
Akap6	C	T	12: 53,188,319 (GRCm39)	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159 (GRCm39)	Y43C	probably benign	Het
Alk	A	C	17: 72,202,758 (GRCm39)	V1159G	probably damaging	Het
Alx3	A	T	3: 107,508,010 (GRCm39)	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,069,593 (GRCm39)		probably benign	Het
Atf7ip	C	A	6: 136,564,141 (GRCm39)	L787I	probably benign	Het
Bbs9	A	T	9: 22,590,234 (GRCm39)	E657D	possibly damaging	Het
Bean1	G	A	8: 104,908,752 (GRCm39)		probably null	Het
Cactin	G	T	10: 81,157,082 (GRCm39)	R13L	unknown	Het
Ccdc178	T	C	18: 22,200,721 (GRCm39)	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,181,759 (GRCm39)	I583T	probably damaging	Het
Ccl8	T	C	11: 82,006,933 (GRCm39)	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,372,932 (GRCm39)	K199N	probably damaging	Het
Cnbp	G	A	6: 87,822,646 (GRCm39)	S39L	probably benign	Het
Cnih3	T	A	1: 181,237,437 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,090,201 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,159,380 (GRCm39)	I512V	probably benign	Het
Col20a1	A	G	2: 180,640,296 (GRCm39)		probably benign	Het
Col6a2	A	T	10: 76,450,741 (GRCm39)	Y63*	probably null	Het
Copa	T	G	1: 171,925,312 (GRCm39)	F190V	probably damaging	Het
Crisp4	A	C	1: 18,207,148 (GRCm39)		probably benign	Het
Cxcl2	C	T	5: 91,052,085 (GRCm39)	Q64*	probably null	Het
Cxcr5	T	C	9: 44,425,549 (GRCm39)	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,411,765 (GRCm39)	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,071,538 (GRCm39)	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198 (GRCm39)	D57A	probably benign	Het
Ddx11	T	A	17: 66,450,460 (GRCm39)	S492T	probably benign	Het
Dhx34	C	T	7: 15,950,376 (GRCm39)	R264H	probably damaging	Het
Dnah3	T	A	7: 119,561,375 (GRCm39)	I328F		Het
Dnah5	C	T	15: 28,327,886 (GRCm39)	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,927,286 (GRCm39)	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,260,396 (GRCm39)	N982D	probably benign	Het
Dync1h1	A	G	12: 110,583,172 (GRCm39)	D423G	probably damaging	Het
Ect2l	A	C	10: 18,048,583 (GRCm39)	L213V	probably damaging	Het
Fam210a	T	C	18: 68,409,215 (GRCm39)	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266 (GRCm39)		probably null	Het
Fastkd5	T	C	2: 130,457,111 (GRCm39)	E493G	probably benign	Het
Fbxo38	T	C	18: 62,659,272 (GRCm39)	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,410 (GRCm39)	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,527,160 (GRCm39)		probably benign	Het
Frmd4b	G	T	6: 97,389,480 (GRCm39)	P129T	probably benign	Het
Galnt13	C	A	2: 54,770,138 (GRCm39)	A310E	probably benign	Het
Gm4884	T	A	7: 40,694,108 (GRCm39)	Y692*	probably null	Het
Gm6309	T	A	5: 146,105,103 (GRCm39)	D270V	probably damaging	Het
Grip1	G	T	10: 119,290,192 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kdf1	G	T	4: 133,255,505 (GRCm39)	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,207,184 (GRCm39)	C169*	probably null	Het
Kmt2c	G	T	5: 25,520,077 (GRCm39)	T2011K	probably benign	Het
Lama1	G	A	17: 68,080,779 (GRCm39)	G1269E		Het
Lamb3	C	T	1: 193,017,182 (GRCm39)	A791V	probably benign	Het
Leng9	G	T	7: 4,151,774 (GRCm39)	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,915,342 (GRCm39)	V746L	probably benign	Het
Lrp5	T	A	19: 3,702,170 (GRCm39)	S216C	probably damaging	Het
Ltn1	T	C	16: 87,178,433 (GRCm39)	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,094,606 (GRCm39)	N345K	probably damaging	Het
Map4k1	T	A	7: 28,688,862 (GRCm39)	D304E	probably benign	Het
Mcpt1	C	T	14: 56,256,522 (GRCm39)	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,265,153 (GRCm39)	K116R	probably benign	Het
Morc2a	G	T	11: 3,628,584 (GRCm39)	A346S	probably damaging	Het
Mybpc3	A	T	2: 90,954,237 (GRCm39)	Q370L	probably benign	Het
Nars2	T	C	7: 96,652,095 (GRCm39)	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,397,693 (GRCm39)	Y118N	probably damaging	Het
Nek11	A	T	9: 105,172,571 (GRCm39)		probably null	Het
Notch4	T	C	17: 34,803,470 (GRCm39)	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,610,908 (GRCm39)	I536T	probably benign	Het
Or6c202	T	C	10: 128,996,334 (GRCm39)	Y173C	probably benign	Het
Pbld1	A	T	10: 62,912,226 (GRCm39)	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,896,177 (GRCm39)	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,351,523 (GRCm39)	D242G	probably damaging	Het
Pnmt	T	A	11: 98,278,580 (GRCm39)	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,799,871 (GRCm39)	N758K	probably damaging	Het
Prex2	A	G	1: 11,240,799 (GRCm39)		probably benign	Het
Prss3	A	T	6: 41,354,512 (GRCm39)	L7Q	probably damaging	Het
Prss43	T	A	9: 110,660,046 (GRCm39)	L370Q	probably damaging	Het
Rac1	A	T	5: 143,493,885 (GRCm39)	V104E	probably damaging	Het
Rgs9	T	C	11: 109,166,449 (GRCm39)	Y107C	probably damaging	Het
Rnase13	C	T	14: 52,159,940 (GRCm39)	W66*	probably null	Het
Rrp1b	G	A	17: 32,270,688 (GRCm39)	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,395,864 (GRCm39)	S309P	probably benign	Het
Serpine3	T	A	14: 62,902,587 (GRCm39)	L66Q	probably damaging	Het
Smc5	C	T	19: 23,191,234 (GRCm39)	V924M	probably damaging	Het
Spmip4	A	T	6: 50,551,028 (GRCm39)	Y474N	possibly damaging	Het
Srgap1	A	T	10: 121,761,545 (GRCm39)		probably benign	Het
Stab1	T	C	14: 30,883,771 (GRCm39)	E262G	possibly damaging	Het
Ston2	A	G	12: 91,606,498 (GRCm39)	*896R	probably null	Het
Syt6	A	G	3: 103,532,941 (GRCm39)	M442V	probably benign	Het
Tap1	T	C	17: 34,408,536 (GRCm39)		probably null	Het
Tbx3	A	C	5: 119,818,624 (GRCm39)	S420R	probably benign	Het
Tespa1	A	T	10: 130,198,316 (GRCm39)	Q446L	probably benign	Het
Tifab	T	C	13: 56,324,108 (GRCm39)	M112V	probably benign	Het
Trpv5	A	T	6: 41,630,192 (GRCm39)	S633T	possibly damaging	Het
Ttn	T	C	2: 76,684,236 (GRCm39)	K838R	unknown	Het
Ttn	A	T	2: 76,744,810 (GRCm39)	V5413E	probably damaging	Het
Tub	C	A	7: 108,628,793 (GRCm39)	N415K		Het
Vmn2r3	T	C	3: 64,182,383 (GRCm39)	M439V	probably benign	Het
Vps13c	A	G	9: 67,850,736 (GRCm39)	D2231G	probably benign	Het
Wbp1	C	T	6: 83,096,913 (GRCm39)	C118Y	unknown	Het
Zdhhc20	C	T	14: 58,127,671 (GRCm39)		probably benign	Het
Zfp217	T	A	2: 169,956,391 (GRCm39)	N869I	probably benign	Het
Zfp677	T	C	17: 21,618,350 (GRCm39)	I469T	probably benign	Het
Zmym2	T	A	14: 57,185,329 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,687,402 (GRCm39)	S94A	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
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
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'- AGTAGAGTCACTTGGGCATTTC -3'
(R):5'- CTTGGCCATCTCAGAAAATGCTG -3'

Sequencing Primer
(F):5'- GCCACTTTACTCCACATG -3'
(R):5'- CTGAGTTGCATTTAAACAAGAGCTGG -3'

Posted On

2022-03-23