Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Col1a1'

44774

Institutional Source

Beutler Lab

Gene Symbol

Col1a1

Ensembl Gene

ENSMUSG00000001506

Gene Name

collagen, type I, alpha 1

Synonyms

Cola1, Mov-13, Col1a-1, Cola-1

MMRRC Submission

038737-MU

Accession Numbers

MGI: 88467

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94936224-94953042 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94951594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1446 (D1446G)

Ref Sequence

ENSEMBL: ENSMUSP00000001547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001547]

AlphaFold

P11087

Predicted Effect

unknown
Transcript: ENSMUST00000001547
AA Change: D1446G

SMART Domains

Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: D1446G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
VWC	31	86	1.04e-16	SMART
Pfam:Collagen	97	154	1.1e-9	PFAM
Pfam:Collagen	166	227	7e-10	PFAM
Pfam:Collagen	225	284	2.4e-13	PFAM
Pfam:Collagen	285	344	5.9e-12	PFAM
low complexity region	354	426	N/A	INTRINSIC
internal_repeat_4	427	444	4.93e-7	PROSPERO
low complexity region	447	486	N/A	INTRINSIC
low complexity region	495	516	N/A	INTRINSIC
low complexity region	527	567	N/A	INTRINSIC
internal_repeat_3	570	588	1.25e-9	PROSPERO
low complexity region	590	600	N/A	INTRINSIC
low complexity region	603	627	N/A	INTRINSIC
low complexity region	629	651	N/A	INTRINSIC
internal_repeat_1	652	675	6.29e-11	PROSPERO
internal_repeat_4	658	675	4.93e-7	PROSPERO
low complexity region	678	699	N/A	INTRINSIC
low complexity region	702	717	N/A	INTRINSIC
internal_repeat_2	718	738	2.08e-10	PROSPERO
internal_repeat_1	718	741	6.29e-11	PROSPERO
internal_repeat_3	726	744	1.25e-9	PROSPERO
internal_repeat_5	737	752	9.8e-6	PROSPERO
Pfam:Collagen	768	827	2.8e-12	PFAM
Pfam:Collagen	828	887	6.8e-11	PFAM
internal_repeat_5	944	959	9.8e-6	PROSPERO
internal_repeat_2	952	972	2.08e-10	PROSPERO
Pfam:Collagen	1008	1077	4.8e-8	PFAM
Pfam:Collagen	1068	1127	1.2e-12	PFAM
Pfam:Collagen	1122	1184	2.8e-9	PFAM
PDB:3HR2\|C	1185	1205	6e-6	PDB
COLFI	1217	1453	2.04e-162	SMART

Meta Mutation Damage Score

0.2097

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-2 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice lacking the encoded protein die in utero caused by the rupture of a major blood vessel. Transgenic mice expressing significantly lower levels of this gene exhibit morphological and functional defects in mineralized and non-mineralized connective tissue and, progressive loss of hearing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection. [provided by MGI curators]

Allele List at MGI

All alleles(46) : Targeted(40) Gene trapped(3) Transgenic(1) Chemically induced(2)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Col1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Col1a1	APN	11	94949378	missense	unknown
IGL01383:Col1a1	APN	11	94945525	missense	probably damaging	1.00
IGL01717:Col1a1	APN	11	94950777	missense	unknown
IGL02889:Col1a1	APN	11	94951509	missense	unknown
seal	UTSW	11	94947184	splice site	probably benign
walrus	UTSW	11	94942385	missense	unknown
R0121:Col1a1	UTSW	11	94938069	missense	unknown
R0400:Col1a1	UTSW	11	94941369	splice site	probably benign
R0661:Col1a1	UTSW	11	94949389	missense	unknown
R1220:Col1a1	UTSW	11	94951131	missense	unknown
R1717:Col1a1	UTSW	11	94948392	missense	unknown
R1732:Col1a1	UTSW	11	94944415	splice site	probably benign
R1879:Col1a1	UTSW	11	94951225	missense	unknown
R1880:Col1a1	UTSW	11	94950568	missense	unknown
R1901:Col1a1	UTSW	11	94946632	splice site	probably null
R2113:Col1a1	UTSW	11	94948362	missense	unknown
R2386:Col1a1	UTSW	11	94950391	missense	unknown
R3803:Col1a1	UTSW	11	94938069	missense	unknown
R4839:Col1a1	UTSW	11	94950095	critical splice acceptor site	probably null
R4936:Col1a1	UTSW	11	94947132	missense	unknown
R5081:Col1a1	UTSW	11	94951576	missense	unknown
R5105:Col1a1	UTSW	11	94942385	missense	unknown
R5110:Col1a1	UTSW	11	94941593	critical splice donor site	probably null
R5247:Col1a1	UTSW	11	94947187	splice site	probably null
R5773:Col1a1	UTSW	11	94939429	missense	probably benign	0.10
R5776:Col1a1	UTSW	11	94949724	missense	unknown
R5991:Col1a1	UTSW	11	94937919	missense	unknown
R6415:Col1a1	UTSW	11	94940160	missense	unknown
R6483:Col1a1	UTSW	11	94942618	splice site	probably null
R7207:Col1a1	UTSW	11	94938526	missense	unknown
R7853:Col1a1	UTSW	11	94947679	missense	unknown
R8219:Col1a1	UTSW	11	94943358	missense	probably damaging	1.00
R8228:Col1a1	UTSW	11	94945600	critical splice donor site	probably null
R8751:Col1a1	UTSW	11	94947274	missense	unknown
R8787:Col1a1	UTSW	11	94942808	missense	possibly damaging	0.95
R9278:Col1a1	UTSW	11	94947277	missense	unknown
R9656:Col1a1	UTSW	11	94948546	missense	unknown
R9662:Col1a1	UTSW	11	94945841	missense	probably benign	0.01
RF007:Col1a1	UTSW	11	94943040	missense	probably damaging	1.00
Z1177:Col1a1	UTSW	11	94943804	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AGGCAACAGTCGCTTCACCTACAG -3'
(R):5'- TTCAAGCAAGAGGACCAAGCTTCC -3'

Sequencing Primer
(F):5'- TTAGCCTTCTGGCAGAACAG -3'
(R):5'- ttttCTTTTTTGGTAAGGTTGAATGC -3'

Posted On

2013-06-11