Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Col1a1'

104974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col1a1

Ensembl Gene

ENSMUSG00000001506

Gene Name

collagen, type I, alpha 1

Synonyms

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

Accession Numbers

MGI: 88467

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

94936224-94953042 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94950777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1284 (T1284A)

Ref Sequence

ENSEMBL: ENSMUSP00000001547 (fasta)

Gene Model

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

AlphaFold

P11087

Predicted Effect

unknown
Transcript: ENSMUST00000001547
AA Change: T1284A

SMART Domains

Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: T1284A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148046

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	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
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
R0545:Col1a1	UTSW	11	94951594	missense	unknown
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
RF007:Col1a1	UTSW	11	94943040	missense	probably damaging	1.00
Z1177:Col1a1	UTSW	11	94943804	missense	probably benign	0.21

Posted On

2014-01-21