Mutagenetix > Incidental Mutations

Incidental Mutation 'R4936:Col1a1'

380397

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

042536-MU

Accession Numbers

MGI: 88467

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94936224-94953042 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94947132 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 826 (D826G)

Ref Sequence

ENSEMBL: ENSMUSP00000001547 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000001547
AA Change: D826G

SMART Domains

Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: D826G

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

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,315	F183L	possibly damaging	Het
4930590J08Rik	T	A	6: 91,944,264	M775K	probably damaging	Het
Actn1	T	G	12: 80,172,998	I700L	probably benign	Het
Adam5	T	C	8: 24,786,271	Y460C	probably damaging	Het
Akna	C	T	4: 63,395,265	G207E	probably damaging	Het
Ank2	T	A	3: 126,955,039	H527L	possibly damaging	Het
Anks1	C	A	17: 27,988,805	N383K	probably damaging	Het
Apba3	C	T	10: 81,269,370		probably null	Het
Atp9b	C	A	18: 80,736,093	V1121F	possibly damaging	Het
Bsn	T	C	9: 108,111,761	Y2264C	probably damaging	Het
Bst1	A	G	5: 43,840,457	D266G	probably damaging	Het
Cep55	A	G	19: 38,071,754		probably null	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Ckb	T	C	12: 111,671,230	K156E	probably benign	Het
Cln3	T	A	7: 126,575,221	H315L	probably damaging	Het
Cnot6l	A	G	5: 96,079,937	F479S	probably damaging	Het
Cyp27a1	T	C	1: 74,735,405	V194A	probably benign	Het
Dis3l2	C	T	1: 87,044,168	P643S	probably benign	Het
Dpf3	T	C	12: 83,331,966	D108G	probably damaging	Het
Eif2b4	C	T	5: 31,192,897	G27D	probably benign	Het
Eif4a1	T	G	11: 69,672,425		probably benign	Het
Espl1	A	T	15: 102,304,937	D566V	probably damaging	Het
Ext2	T	A	2: 93,813,679	R86*	probably null	Het
Fasn	A	T	11: 120,816,085	F914I	probably damaging	Het
Fbf1	A	G	11: 116,152,552	L477P	probably benign	Het
Fsd1	A	T	17: 55,996,452	K441N	possibly damaging	Het
Fsip2	T	A	2: 82,985,040	S3706T	probably benign	Het
Gabra5	A	T	7: 57,408,799	N400K	probably benign	Het
Gimap8	G	T	6: 48,656,134	G296W	probably damaging	Het
Gli2	A	G	1: 118,836,140	V1427A	probably benign	Het
Gm7334	A	T	17: 50,698,827	Y47F	probably damaging	Het
Gm8674	T	G	13: 49,900,755		noncoding transcript	Het
Gmeb2	G	T	2: 181,254,246	T377K	probably benign	Het
Gp9	T	A	6: 87,779,247	D81E	probably benign	Het
Il5ra	T	A	6: 106,738,162	I212F	possibly damaging	Het
Klhl18	G	T	9: 110,428,961	N470K	possibly damaging	Het
Lfng	G	T	5: 140,612,395		probably null	Het
Lpo	A	G	11: 87,810,340	I430T	probably benign	Het
Lrrc31	C	T	3: 30,689,268	D183N	probably damaging	Het
Meis2	T	C	2: 115,864,412	T410A	probably benign	Het
Myo6	A	G	9: 80,307,681	D1232G	probably damaging	Het
Ncapd2	C	T	6: 125,169,840	R1261H	probably benign	Het
Nfkb1	C	T	3: 135,613,982	V251M	probably damaging	Het
Nmbr	C	A	10: 14,766,986	H96Q	probably damaging	Het
Nop14	C	T	5: 34,652,393	R256H	probably damaging	Het
Nqo2	T	A	13: 33,981,518	Y133N	probably damaging	Het
Olfr1153	A	G	2: 87,896,813	I213V	probably benign	Het
Olfr1366	T	C	13: 21,537,187	I273V	probably benign	Het
Pbld2	C	A	10: 63,052,238	S168R	probably damaging	Het
Pcdhb7	G	T	18: 37,342,150	G113V	probably damaging	Het
Pcdhb7	G	T	18: 37,342,149	G113*	probably null	Het
Pdgfra	A	T	5: 75,195,026	T1066S	probably damaging	Het
Prdm8	A	T	5: 98,185,022		probably null	Het
Prdm8	G	T	5: 98,185,023		probably null	Het
Prkg1	T	C	19: 30,586,375	Y479C	probably benign	Het
Pudp	T	C	18: 50,568,468	T65A	probably benign	Het
Rbbp6	C	T	7: 122,999,703		probably benign	Het
Rcc1	C	G	4: 132,335,735	V187L	probably damaging	Het
Rims2	T	A	15: 39,437,728	M285K	probably damaging	Het
Rtkn2	T	C	10: 68,041,915	*602Q	probably null	Het
Rxfp3	T	G	15: 11,036,780	S169R	probably damaging	Het
Sardh	T	C	2: 27,228,241		probably null	Het
Slc24a2	A	T	4: 87,227,347	F157I	probably damaging	Het
Slc25a20	T	C	9: 108,681,992	Y186H	probably damaging	Het
Slc25a24	A	G	3: 109,163,548	R408G	probably damaging	Het
Slc44a5	T	G	3: 154,253,716	I348S	probably damaging	Het
Slc8a2	A	T	7: 16,134,175	K111*	probably null	Het
Smc5	A	G	19: 23,234,003	V589A	probably damaging	Het
Thbd	A	T	2: 148,407,735	I71N	probably damaging	Het
Thsd7b	T	C	1: 129,678,145	M541T	probably benign	Het
Tie1	T	A	4: 118,484,771		silent	Het
Tln1	A	G	4: 43,547,522	F813S	possibly damaging	Het
Tnrc18	A	T	5: 142,765,977	L1191*	probably null	Het
Tubb2a	A	C	13: 34,075,257	Y183*	probably null	Het
Ubr4	T	A	4: 139,396,566	V343E	probably damaging	Het
Vmn2r93	A	T	17: 18,304,065	D107V	possibly damaging	Het
Vwa5a	T	G	9: 38,736,198	S624R	probably benign	Het
Wwox	G	A	8: 114,706,358	V255I	probably benign	Het
Wwp1	T	C	4: 19,638,804	K546E	probably damaging	Het
Xirp2	T	A	2: 67,509,819	F801L	possibly damaging	Het
Zfp407	T	C	18: 84,559,464	I1175V	probably benign	Het
Zfp646	T	A	7: 127,881,761	C1037S	possibly damaging	Het
Zfp786	A	T	6: 47,821,268	C245*	probably null	Het
Zfp827	T	C	8: 79,061,183	V326A	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
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
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
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'- CTGGTGTCTCCAAGTGTCTCTG -3'
(R):5'- TCGCGACAGAGATGCATATG -3'

Sequencing Primer
(F):5'- AAGTGTCTCTGCATCTCCAAG -3'
(R):5'- TCGCGACAGAGATGCATATGATACTC -3'

Posted On

2016-04-15