Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Col28a1'

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94176

Institutional Source

Beutler Lab

Gene Symbol

Col28a1

Ensembl Gene

ENSMUSG00000068794

Gene Name

collagen, type XXVIII, alpha 1

Synonyms

Col28; Gm466

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7997808-8192617 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8175534 bp

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]

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: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,313,353	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Cpne4	A	G	9: 105,022,401	T428A	probably benign	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm12800	A	G	4: 101,909,164	E15G	probably benign	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Olfr648	A	G	7: 104,180,291	I39T	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	Het

Other mutations in Col28a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Col28a1	APN	6	8014795	missense	probably damaging	1.00
IGL00329:Col28a1	APN	6	8175425	missense	probably damaging	1.00
IGL00466:Col28a1	APN	6	8022081	splice site	probably benign
IGL00544:Col28a1	APN	6	8162228	critical splice acceptor site	probably null
IGL00979:Col28a1	APN	6	8014810	missense	probably damaging	1.00
IGL01475:Col28a1	APN	6	8103521	missense	probably damaging	0.98
IGL01570:Col28a1	APN	6	8014540	missense	probably damaging	0.99
IGL01688:Col28a1	APN	6	7998517	missense	probably damaging	1.00
IGL01734:Col28a1	APN	6	8158134	missense	probably damaging	0.99
IGL01911:Col28a1	APN	6	8014963	missense	probably damaging	1.00
IGL01922:Col28a1	APN	6	8158133	missense	probably damaging	0.96
IGL02567:Col28a1	APN	6	8014819	missense	possibly damaging	0.91
IGL02641:Col28a1	APN	6	8014794	nonsense	probably null
IGL02893:Col28a1	APN	6	8103534	missense	probably damaging	1.00
IGL03062:Col28a1	APN	6	8017029	splice site	probably benign
IGL03273:Col28a1	APN	6	8103484	splice site	probably benign
P0043:Col28a1	UTSW	6	8168152	unclassified	probably benign
R0034:Col28a1	UTSW	6	8175708	missense	probably benign	0.32
R0543:Col28a1	UTSW	6	8075326	splice site	probably benign
R0646:Col28a1	UTSW	6	8175291	missense	possibly damaging	0.88
R0726:Col28a1	UTSW	6	8014495	critical splice donor site	probably null
R1013:Col28a1	UTSW	6	7999452	splice site	probably benign
R1671:Col28a1	UTSW	6	8083773	missense	possibly damaging	0.84
R1804:Col28a1	UTSW	6	8164612	critical splice donor site	probably null
R1853:Col28a1	UTSW	6	8014574	missense	probably benign	0.03
R1906:Col28a1	UTSW	6	7999644	missense	probably benign	0.14
R1914:Col28a1	UTSW	6	8176333	missense	probably benign	0.08
R1915:Col28a1	UTSW	6	8176333	missense	probably benign	0.08
R1954:Col28a1	UTSW	6	7998516	missense	probably damaging	1.00
R1997:Col28a1	UTSW	6	7999644	missense	probably benign	0.14
R2011:Col28a1	UTSW	6	8059360	missense	probably benign	0.05
R2023:Col28a1	UTSW	6	8083783	missense	possibly damaging	0.66
R2149:Col28a1	UTSW	6	8155383	missense	possibly damaging	0.83
R2285:Col28a1	UTSW	6	8097078	missense	probably damaging	0.98
R2403:Col28a1	UTSW	6	8175641	missense	possibly damaging	0.79
R3615:Col28a1	UTSW	6	8014942	missense	probably damaging	1.00
R3616:Col28a1	UTSW	6	8014942	missense	probably damaging	1.00
R3837:Col28a1	UTSW	6	8014601	missense	possibly damaging	0.81
R4042:Col28a1	UTSW	6	8014678	missense	probably damaging	0.98
R4084:Col28a1	UTSW	6	8013131	nonsense	probably null
R4084:Col28a1	UTSW	6	8013132	missense	possibly damaging	0.49
R4417:Col28a1	UTSW	6	8175666	missense	possibly damaging	0.62
R4838:Col28a1	UTSW	6	8014559	missense	probably benign	0.11
R5752:Col28a1	UTSW	6	8015025	missense	possibly damaging	0.79
R5807:Col28a1	UTSW	6	8158144	missense	probably benign	0.00
R6038:Col28a1	UTSW	6	8013140	missense	probably benign	0.03
R6038:Col28a1	UTSW	6	8013140	missense	probably benign	0.03
R6046:Col28a1	UTSW	6	8168102	splice site	probably null
R6054:Col28a1	UTSW	6	8083748	missense	possibly damaging	0.96
R6159:Col28a1	UTSW	6	8162247	splice site	probably null
R6306:Col28a1	UTSW	6	8014969	missense	probably damaging	0.96
R6379:Col28a1	UTSW	6	8012996	missense	probably benign	0.00
R6665:Col28a1	UTSW	6	8062277	missense	probably benign	0.08
R6809:Col28a1	UTSW	6	7999468	missense	probably damaging	0.99
R7023:Col28a1	UTSW	6	8083763	missense	possibly damaging	0.92
R7101:Col28a1	UTSW	6	8014795	missense	possibly damaging	0.95
R7117:Col28a1	UTSW	6	8013122	missense	possibly damaging	0.89
R7375:Col28a1	UTSW	6	7998499	missense	possibly damaging	0.46
R8236:Col28a1	UTSW	6	8097024	critical splice donor site	probably null
R8272:Col28a1	UTSW	6	8154175	missense	possibly damaging	0.92
Z1177:Col28a1	UTSW	6	8062283	missense	possibly damaging	0.52
Z1177:Col28a1	UTSW	6	8127352	missense	probably damaging	1.00
Z1177:Col28a1	UTSW	6	8175630	missense	unknown

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