Mutagenetix > Incidental Mutation

Incidental Mutation 'R3803:Col1a1'

274437

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

040878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3803 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94827050-94843868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94828895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 79 (E79G)

Ref Sequence

ENSEMBL: ENSMUSP00000001547 (fasta)

Gene Model

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

AlphaFold

P11087

Predicted Effect

unknown
Transcript: ENSMUST00000001547
AA Change: E79G

SMART Domains

Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: E79G

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: ENSMUST00000148593

Meta Mutation Damage Score

0.1459

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,033 (GRCm39)	N1263S	probably benign	Het
Alpk1	A	C	3: 127,473,486 (GRCm39)	V839G	possibly damaging	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Aox1	T	A	1: 58,329,058 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Arhgap24	T	C	5: 103,040,308 (GRCm39)	V508A	probably damaging	Het
Arhgap9	T	A	10: 127,165,386 (GRCm39)	D598E	possibly damaging	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Clstn1	A	G	4: 149,719,796 (GRCm39)	H437R	probably damaging	Het
Cspp1	C	A	1: 10,196,598 (GRCm39)	D157E	probably damaging	Het
Cyp4f16	T	C	17: 32,763,858 (GRCm39)	S217P	possibly damaging	Het
Ddx50	C	A	10: 62,475,723 (GRCm39)	V333F	probably damaging	Het
Dnai2	A	G	11: 114,629,551 (GRCm39)	S193G	probably benign	Het
Dync2h1	A	T	9: 6,935,293 (GRCm39)	H4236Q	probably benign	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Erich6	T	A	3: 58,528,753 (GRCm39)	Y499F	probably damaging	Het
Fa2h	A	G	8: 112,082,030 (GRCm39)		probably null	Het
Fads2b	A	T	2: 85,338,682 (GRCm39)		probably null	Het
Gli1	T	A	10: 127,173,934 (GRCm39)		probably benign	Het
Gm14403	A	G	2: 177,200,569 (GRCm39)	S172G	probably benign	Het
Grhl1	C	T	12: 24,634,918 (GRCm39)	T330M	probably damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Helz2	A	G	2: 180,881,789 (GRCm39)	F335L	probably damaging	Het
Hr	G	A	14: 70,795,333 (GRCm39)	A322T	probably benign	Het
Hsd17b8	A	T	17: 34,245,441 (GRCm39)	V231E	probably damaging	Het
Iapp	A	G	6: 142,249,151 (GRCm39)	N68S	probably benign	Het
Kctd4	A	T	14: 76,200,726 (GRCm39)	L232F	probably benign	Het
Kdm5b	A	G	1: 134,543,679 (GRCm39)	I783V	probably benign	Het
Larp4b	T	A	13: 9,208,590 (GRCm39)	N414K	probably benign	Het
Ldb2	T	C	5: 44,630,736 (GRCm39)	E337G	probably benign	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Luc7l3	A	T	11: 94,183,992 (GRCm39)		probably benign	Het
Ndrg2	C	A	14: 52,148,132 (GRCm39)		probably null	Het
Ndufaf3	C	A	9: 108,444,092 (GRCm39)	R12L	probably benign	Het
Nol4	A	T	18: 22,828,012 (GRCm39)	L634I	probably damaging	Het
Npr3	C	T	15: 11,895,876 (GRCm39)	A257T	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4g17	A	T	2: 111,209,638 (GRCm39)	M98L	possibly damaging	Het
Or51a7	T	C	7: 102,615,228 (GRCm39)		probably null	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pclo	C	T	5: 14,565,416 (GRCm39)	Q61*	probably null	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,356,531 (GRCm39)	L332P	probably benign	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rgl3	A	G	9: 21,887,321 (GRCm39)	I500T	probably damaging	Het
Rgs7	T	A	1: 175,016,785 (GRCm39)	I62F	probably benign	Het
Rttn	A	G	18: 88,995,831 (GRCm39)	N205D	probably damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Scn7a	G	A	2: 66,510,590 (GRCm39)	Q1271*	probably null	Het
Skor1	A	G	9: 63,052,868 (GRCm39)	V339A	probably benign	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc5a6	T	C	5: 31,200,295 (GRCm39)	E130G	probably damaging	Het
Sorcs2	T	A	5: 36,555,150 (GRCm39)	K80N	probably benign	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Steap4	G	T	5: 8,026,979 (GRCm39)	R314L	probably damaging	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Trav7d-4	A	T	14: 53,007,575 (GRCm39)	K23*	probably null	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn2r52	A	G	7: 9,907,439 (GRCm39)	S96P	probably damaging	Het
Wdr25	T	C	12: 108,864,479 (GRCm39)	V208A	probably damaging	Het
Wdr27	C	T	17: 15,138,371 (GRCm39)	V360M	probably benign	Het
Zfp54	T	C	17: 21,653,814 (GRCm39)	C103R	possibly damaging	Het
Zfp618	A	G	4: 63,051,256 (GRCm39)	E679G	probably damaging	Het
Zfp846	A	G	9: 20,505,735 (GRCm39)	I532V	probably benign	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	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
R0400:Col1a1	UTSW	11	94,832,195 (GRCm39)	splice site	probably benign
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
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'- TGCTCAGTCCCTGAAGTCAG -3'
(R):5'- ACTGCAGTTTATTGGAGGACAGTG -3'

Sequencing Primer
(F):5'- GTCCCTGAAGTCAGCTGCATAC -3'
(R):5'- GGGAGCAGATTATTACCTCGACTC -3'

Posted On

2015-04-02