Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Col1a1'

38151

Institutional Source

Beutler Lab

Gene Symbol

Col1a1

Ensembl Gene

ENSMUSG00000001506

Gene Name

collagen, type I, alpha 1

Synonyms

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

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94827050-94843868 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 94832195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001547 (fasta)

Gene Model

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

AlphaFold

P11087

Predicted Effect

probably benign
Transcript: ENSMUST00000001547

SMART Domains

Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506

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: ENSMUST00000139974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148593

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,376,360 (GRCm39)	H169L	probably benign	Het
9130230L23Rik	T	C	5: 66,147,699 (GRCm39)	D28G	unknown	Het
Abca12	T	A	1: 71,298,935 (GRCm39)		probably benign	Het
Acsl5	T	C	19: 55,282,143 (GRCm39)	V573A	probably damaging	Het
Agap1	A	G	1: 89,770,972 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,254,806 (GRCm39)		probably benign	Het
B430305J03Rik	T	A	3: 61,271,556 (GRCm39)		probably benign	Het
Brsk2	T	C	7: 141,552,290 (GRCm39)	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,449,043 (GRCm39)	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,551,591 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,414,078 (GRCm39)	V88A	probably benign	Het
Cnnm1	A	T	19: 43,456,803 (GRCm39)	H614L	probably damaging	Het
Cyp1b1	T	A	17: 80,021,016 (GRCm39)	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,420,915 (GRCm39)	M1T	probably null	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dclk2	A	T	3: 86,721,054 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,972,904 (GRCm39)	S2010P	probably damaging	Het
Dram2	T	C	3: 106,480,934 (GRCm39)	L246P	probably damaging	Het
Dus2	A	T	8: 106,775,309 (GRCm39)	T279S	probably benign	Het
Epn2	T	C	11: 61,423,522 (GRCm39)		probably null	Het
Esco2	C	A	14: 66,069,155 (GRCm39)	V52F	possibly damaging	Het
Fbp1	T	A	13: 63,012,882 (GRCm39)	T104S	probably benign	Het
Foxj2	A	T	6: 122,810,767 (GRCm39)	Q249L	possibly damaging	Het
Galnt7	T	C	8: 58,037,023 (GRCm39)	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,340,588 (GRCm39)	Y35H	probably benign	Het
Gipc2	A	G	3: 151,871,305 (GRCm39)	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,734,139 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,290,141 (GRCm39)	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,130,434 (GRCm39)	K471R	probably damaging	Het
Ireb2	G	A	9: 54,803,782 (GRCm39)	R491H	probably benign	Het
Isg20	A	G	7: 78,566,473 (GRCm39)	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,749,243 (GRCm39)	R100H	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,719,940 (GRCm39)	F287V	probably benign	Het
Maco1	T	C	4: 134,555,427 (GRCm39)	K349E	probably benign	Het
Mmrn1	A	C	6: 60,954,099 (GRCm39)	K793N	probably benign	Het
Muc16	A	G	9: 18,421,830 (GRCm39)	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,083,424 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,528,372 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,951,373 (GRCm39)	V400A	probably damaging	Het
Nxph4	T	A	10: 127,362,127 (GRCm39)	T255S	possibly damaging	Het
Olfm5	G	A	7: 103,803,386 (GRCm39)	T359I	probably damaging	Het
Or1e33	T	C	11: 73,738,867 (GRCm39)	Y28C	probably benign	Het
Or5t18	A	G	2: 86,636,995 (GRCm39)	M116T	probably damaging	Het
Or8b44	A	G	9: 38,410,207 (GRCm39)	M81V	possibly damaging	Het
Or8g21	G	T	9: 38,906,494 (GRCm39)	P79Q	probably damaging	Het
Pak5	T	C	2: 135,939,499 (GRCm39)	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,608,948 (GRCm39)	F727L	probably benign	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,320,664 (GRCm39)	I1553N	probably benign	Het
Pink1	T	C	4: 138,045,229 (GRCm39)	T282A	probably damaging	Het
Prdm2	A	G	4: 142,838,240 (GRCm39)	F1706S	probably benign	Het
Pycr1	G	A	11: 120,532,352 (GRCm39)		probably benign	Het
Rigi	A	G	4: 40,235,257 (GRCm39)	Y78H	probably benign	Het
Skint9	A	G	4: 112,271,198 (GRCm39)	S71P	probably damaging	Het
Smad1	A	G	8: 80,098,399 (GRCm39)		probably benign	Het
Snapc5	A	T	9: 64,087,789 (GRCm39)	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,256,443 (GRCm39)	L56P	probably damaging	Het
Stab2	A	C	10: 86,708,474 (GRCm39)	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,870,888 (GRCm39)		probably benign	Het
Tph2	A	G	10: 114,916,025 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,594,077 (GRCm39)	V118A	probably benign	Het
Ttbk2	T	A	2: 120,580,723 (GRCm39)	T538S	probably benign	Het
Ttn	A	G	2: 76,545,616 (GRCm39)	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,867,166 (GRCm39)	Y158F	probably benign	Het
Usp7	A	T	16: 8,534,496 (GRCm39)		probably benign	Het
Vdr	A	G	15: 97,767,232 (GRCm39)	S179P	probably benign	Het
Vps13d	A	C	4: 144,792,397 (GRCm39)	S663A	probably benign	Het
Wdr62	T	A	7: 29,940,887 (GRCm39)	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,467,956 (GRCm39)	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,343,909 (GRCm39)	C439R	probably damaging	Het
Zfp507	T	A	7: 35,491,171 (GRCm39)	H704L	probably damaging	Het
Zzef1	G	A	11: 72,786,068 (GRCm39)	R2080K	probably damaging	Het

Other mutations in Col1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Col1a1	APN	11	94,840,204 (GRCm39)	missense	unknown
IGL01383:Col1a1	APN	11	94,836,351 (GRCm39)	missense	probably damaging	1.00
IGL01717:Col1a1	APN	11	94,841,603 (GRCm39)	missense	unknown
IGL02889:Col1a1	APN	11	94,842,335 (GRCm39)	missense	unknown
seal	UTSW	11	94,838,009 (GRCm39)	splice site	probably benign
walrus	UTSW	11	94,833,211 (GRCm39)	missense	unknown
R0121:Col1a1	UTSW	11	94,828,895 (GRCm39)	missense	unknown
R0545:Col1a1	UTSW	11	94,842,420 (GRCm39)	missense	unknown
R0661:Col1a1	UTSW	11	94,840,215 (GRCm39)	missense	unknown
R1220:Col1a1	UTSW	11	94,841,957 (GRCm39)	missense	unknown
R1717:Col1a1	UTSW	11	94,839,218 (GRCm39)	missense	unknown
R1732:Col1a1	UTSW	11	94,835,241 (GRCm39)	splice site	probably benign
R1879:Col1a1	UTSW	11	94,842,051 (GRCm39)	missense	unknown
R1880:Col1a1	UTSW	11	94,841,394 (GRCm39)	missense	unknown
R1901:Col1a1	UTSW	11	94,837,458 (GRCm39)	splice site	probably null
R2113:Col1a1	UTSW	11	94,839,188 (GRCm39)	missense	unknown
R2386:Col1a1	UTSW	11	94,841,217 (GRCm39)	missense	unknown
R3803:Col1a1	UTSW	11	94,828,895 (GRCm39)	missense	unknown
R4839:Col1a1	UTSW	11	94,840,921 (GRCm39)	critical splice acceptor site	probably null
R4936:Col1a1	UTSW	11	94,837,958 (GRCm39)	missense	unknown
R5081:Col1a1	UTSW	11	94,842,402 (GRCm39)	missense	unknown
R5105:Col1a1	UTSW	11	94,833,211 (GRCm39)	missense	unknown
R5110:Col1a1	UTSW	11	94,832,419 (GRCm39)	critical splice donor site	probably null
R5247:Col1a1	UTSW	11	94,838,013 (GRCm39)	splice site	probably null
R5773:Col1a1	UTSW	11	94,830,255 (GRCm39)	missense	probably benign	0.10
R5776:Col1a1	UTSW	11	94,840,550 (GRCm39)	missense	unknown
R5991:Col1a1	UTSW	11	94,828,745 (GRCm39)	missense	unknown
R6415:Col1a1	UTSW	11	94,830,986 (GRCm39)	missense	unknown
R6483:Col1a1	UTSW	11	94,833,444 (GRCm39)	splice site	probably null
R7207:Col1a1	UTSW	11	94,829,352 (GRCm39)	missense	unknown
R7853:Col1a1	UTSW	11	94,838,505 (GRCm39)	missense	unknown
R8219:Col1a1	UTSW	11	94,834,184 (GRCm39)	missense	probably damaging	1.00
R8228:Col1a1	UTSW	11	94,836,426 (GRCm39)	critical splice donor site	probably null
R8751:Col1a1	UTSW	11	94,838,100 (GRCm39)	missense	unknown
R8787:Col1a1	UTSW	11	94,833,634 (GRCm39)	missense	possibly damaging	0.95
R9278:Col1a1	UTSW	11	94,838,103 (GRCm39)	missense	unknown
R9656:Col1a1	UTSW	11	94,839,372 (GRCm39)	missense	unknown
R9662:Col1a1	UTSW	11	94,836,667 (GRCm39)	missense	probably benign	0.01
RF007:Col1a1	UTSW	11	94,833,866 (GRCm39)	missense	probably damaging	1.00
Z1177:Col1a1	UTSW	11	94,834,630 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AATGACCTGTGCCCAACAGTCC -3'
(R):5'- GTTCAAAGAAAGAACGTGCCTCACC -3'

Sequencing Primer
(F):5'- GTGCCCAACAGTCCTACTATG -3'
(R):5'- ATACTTACAGGGGGTCCAGC -3'

Posted On

2013-05-23