Mutagenetix > Incidental Mutation

Incidental Mutation 'R1054:Col28a1'

94176

Institutional Source

Beutler Lab

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

MMRRC Submission

039144-MU

Accession Numbers

Essential gene?

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

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8175534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 105 (D105N)

Ref Sequence

ENSEMBL: ENSMUSP00000150110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115537] [ENSMUST00000213284]

AlphaFold

Q2UY11

Predicted Effect

unknown
Transcript: ENSMUST00000115537
AA Change: D105N

SMART Domains

Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: D105N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213284
AA Change: D105N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,635,759 (GRCm39)	T159A	probably benign	Het
Arhgef38	T	C	3: 132,822,226 (GRCm39)	Y763C	probably damaging	Het
Arv1	T	A	8: 125,458,611 (GRCm39)	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,225,318 (GRCm39)	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,279,787 (GRCm39)	M932K	probably benign	Het
Cdh15	T	C	8: 123,591,076 (GRCm39)	F442L	possibly damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cramp1	T	A	17: 25,202,151 (GRCm39)	I444F	probably damaging	Het
Dhx32	T	A	7: 133,327,001 (GRCm39)	K360M	probably damaging	Het
Dna2	T	A	10: 62,799,602 (GRCm39)	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 141,635,804 (GRCm39)		probably benign	Het
Eif3f	G	A	7: 108,537,024 (GRCm39)		probably null	Het
Elmod1	T	C	9: 53,820,058 (GRCm39)	D310G	probably benign	Het
Fn1	A	G	1: 71,625,373 (GRCm39)	*2272Q	probably null	Het
Gnat1	A	G	9: 107,554,638 (GRCm39)	S76P	probably damaging	Het
Gtf2f2	T	C	14: 76,232,885 (GRCm39)	T94A	probably benign	Het
Hacd4	A	T	4: 88,341,264 (GRCm39)	W152R	probably damaging	Het
Kcnh8	A	G	17: 53,110,512 (GRCm39)	Y241C	probably damaging	Het
Lepr	T	C	4: 101,639,793 (GRCm39)	I753T	probably damaging	Het
Med12l	C	T	3: 59,156,072 (GRCm39)	H1162Y	probably damaging	Het
Med25	C	T	7: 44,529,804 (GRCm39)	A485T	probably benign	Het
Mup5	A	T	4: 61,750,871 (GRCm39)	S145R	probably benign	Het
Myo1g	A	G	11: 6,468,987 (GRCm39)	V105A	probably damaging	Het
Npc2	A	G	12: 84,807,492 (GRCm39)		probably null	Het
Or52h1	A	G	7: 103,829,498 (GRCm39)	I39T	probably benign	Het
Or6p1	A	G	1: 174,258,419 (GRCm39)	T142A	probably benign	Het
Otulinl	T	C	15: 27,664,635 (GRCm39)	R79G	probably damaging	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,955 (GRCm39)	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536 (GRCm39)	V199A	possibly damaging	Het
Pramel18	A	G	4: 101,766,361 (GRCm39)	E15G	probably benign	Het
Ptprm	A	T	17: 67,349,313 (GRCm39)	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,758,077 (GRCm39)	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 59,131,394 (GRCm39)		noncoding transcript	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr16c6	A	G	4: 4,069,908 (GRCm39)	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,865,332 (GRCm39)	H827N	probably damaging	Het
Spata31e4	T	C	13: 50,856,432 (GRCm39)	V690A	probably benign	Het
Taf4b	T	A	18: 14,954,530 (GRCm39)	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,342,790 (GRCm39)	V36A	probably benign	Het
Tmem74b	C	T	2: 151,548,339 (GRCm39)	A22V	probably benign	Het
Txnrd3	T	A	6: 89,627,543 (GRCm39)	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,579,624 (GRCm39)	S133R	probably damaging	Het
Vwf	G	A	6: 125,567,190 (GRCm39)	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,787,141 (GRCm39)	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,881,533 (GRCm39)	S407T	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
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

Predicted Primers

PCR Primer
(F):5'- AAACGAAGTTTGGCTTCATTGACCAC -3'
(R):5'- TGGACAGCTCAGAAAGCTCCAAAATTG -3'

Sequencing Primer
(F):5'- TGATCGATGCCATCAGTCATCAG -3'
(R):5'- GCTCAGAAAGCTCCAAAATTGTACTC -3'

Posted On

2014-01-05