Mutagenetix > Incidental Mutation

Incidental Mutation 'RF007:Col1a1'

602920

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94827050-94843868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94833866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 488 (D488G)

Ref Sequence

ENSEMBL: ENSMUSP00000001547 (fasta)

Gene Model

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

AlphaFold

P11087

Predicted Effect

probably damaging
Transcript: ENSMUST00000001547
AA Change: D488G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: D488G

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

97% (73/75)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,661,401 (GRCm39)	S933T	probably benign	Het
Adgrl2	G	A	3: 148,544,884 (GRCm39)	T737I	probably damaging	Het
Adra2c	T	A	5: 35,438,386 (GRCm39)	V386E	probably damaging	Het
Agbl5	C	A	5: 31,060,589 (GRCm39)	T761N	unknown	Het
Ahnak	T	A	19: 8,990,965 (GRCm39)	M4083K	possibly damaging	Het
Aldh1l1	A	T	6: 90,575,241 (GRCm39)	I843F	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Arid1b	GCG	GCGCCG	17: 5,045,869 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,650,609 (GRCm39)		probably null	Het
Blm	C	CTCCTCCTCCTAG	7: 80,162,681 (GRCm39)		probably null	Het
Btg3	A	G	16: 78,129,836 (GRCm39)	*52W	probably null	Het
Cc2d1a	T	C	8: 84,861,298 (GRCm39)	T796A	probably damaging	Het
Cd200r1	T	C	16: 44,610,374 (GRCm39)	S161P	possibly damaging	Het
Cenpj	A	G	14: 56,767,505 (GRCm39)		probably null	Het
Cfap251	G	GGAT	5: 123,392,317 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,760,578 (GRCm39)	T2108A	possibly damaging	Het
Cherp	TGGAGCG	T	8: 73,215,903 (GRCm39)		probably benign	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cntnap5b	T	C	1: 100,091,795 (GRCm39)	C179R	probably damaging	Het
Cntrl	T	A	2: 35,060,512 (GRCm39)	N1901K	probably benign	Het
Coil	CTGG	C	11: 88,872,656 (GRCm39)		probably benign	Het
Coro1a	T	C	7: 126,301,024 (GRCm39)	H130R	probably damaging	Het
Crybg3	A	C	16: 59,377,067 (GRCm39)	S1396A	possibly damaging	Het
Csf2rb2	A	G	15: 78,176,126 (GRCm39)	I259T	probably benign	Het
Cyp1a2	G	T	9: 57,589,253 (GRCm39)	P187Q	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,892,525 (GRCm39)		probably null	Het
Dcun1d3	T	C	7: 119,458,726 (GRCm39)	E103G	possibly damaging	Het
Dmkn	T	A	7: 30,469,129 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,802,474 (GRCm39)	L864P	probably damaging	Het
Dnah14	T	A	1: 181,513,374 (GRCm39)	M1909K	probably benign	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Ecrg4	TTCTGTA	T	1: 43,776,352 (GRCm39)		probably benign	Het
Efna5	T	C	17: 62,920,389 (GRCm39)	S163G	probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ercc4	C	T	16: 12,941,371 (GRCm39)	S253L	possibly damaging	Het
Flywch1	ACCCA	ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA	17: 23,981,138 (GRCm39)		probably null	Het
Flywch1	CCTGGTGT	CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT	17: 23,981,145 (GRCm39)		probably null	Het
Folh1	T	C	7: 86,424,895 (GRCm39)	T25A	probably benign	Het
Foxi3	C	A	6: 70,937,845 (GRCm39)	T359K	possibly damaging	Het
Gab3	TTC	TTCATC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gba2	G	T	4: 43,569,894 (GRCm39)	L440M	probably damaging	Het
Gm14412	T	A	2: 177,007,494 (GRCm39)	N134Y	possibly damaging	Het
Gpr88	A	G	3: 116,046,018 (GRCm39)	S98P	probably benign	Het
Il1r1	A	G	1: 40,352,438 (GRCm39)	Y539C	probably damaging	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Lce1m	CTGCT	CTGCTTCCACTGTTGCT	3: 92,925,451 (GRCm39)		probably benign	Het
Lkaaear1	CAGCTCCAGCTCCAGCTCCAGCTC	CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC	2: 181,339,370 (GRCm39)		probably benign	Het
Lkaaear1	T	TATCTCCAGCTCC	2: 181,339,352 (GRCm39)		probably benign	Het
Ltb4r1	T	A	14: 56,005,426 (GRCm39)	L243Q	possibly damaging	Het
Man2a1	T	A	17: 65,019,248 (GRCm39)	V704D	probably damaging	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA	2: 121,136,789 (GRCm39)		probably benign	Het
Mcu	G	T	10: 59,326,938 (GRCm39)	A63E	probably benign	Het
Mrps31	A	T	8: 22,909,880 (GRCm39)	D182V	possibly damaging	Het
Mslnl	T	A	17: 25,962,202 (GRCm39)	V200E	possibly damaging	Het
Naip1	A	T	13: 100,562,642 (GRCm39)	M841K	probably benign	Het
Ndufab1	T	C	7: 121,695,861 (GRCm39)	K88E	possibly damaging	Het
Nlrp5	A	C	7: 23,117,586 (GRCm39)	I437L	probably benign	Het
Nnt	C	T	13: 119,533,393 (GRCm39)	V91M	probably damaging	Het
Nusap1	TACACGTTAGCAGTGAGGAGCAAGCTGAGA	TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,062 (GRCm39)		probably benign	Het
Nynrin	T	G	14: 56,103,658 (GRCm39)		probably null	Het
Or12k5	T	G	2: 36,895,186 (GRCm39)	T147P	probably damaging	Het
Or5ak22	C	A	2: 85,230,137 (GRCm39)	A247S	probably damaging	Het
Or6c204	T	A	10: 129,022,562 (GRCm39)	I243F	probably damaging	Het
Osbpl8	A	G	10: 111,112,328 (GRCm39)	K481R	possibly damaging	Het
Padi6	T	C	4: 140,457,054 (GRCm39)	D540G	probably damaging	Het
Pcmtd1	T	C	1: 7,225,329 (GRCm39)		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGGTTTTGTTTT	4: 134,006,679 (GRCm39)		probably null	Het
Phospho1	T	C	11: 95,721,881 (GRCm39)	Y184H	probably damaging	Het
Pi4ka	T	A	16: 17,115,097 (GRCm39)	R1431W		Het
Plxdc1	T	A	11: 97,869,504 (GRCm39)	H28L	probably benign	Het
Pnma8a	ACCTCATGATGCACCTGCTTCAACA	ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA	7: 16,695,349 (GRCm39)		probably benign	Het
Ppp1r7	T	C	1: 93,274,011 (GRCm39)		probably null	Het
Ppp1r9a	T	A	6: 4,906,657 (GRCm39)	V404E	probably damaging	Het
Scfd1	T	A	12: 51,469,756 (GRCm39)	S434T	probably benign	Het
Six5	A	G	7: 18,828,862 (GRCm39)	S101G	probably benign	Het
Slc6a4	C	A	11: 76,910,008 (GRCm39)	T421K	probably damaging	Het
Smarcd3	C	A	5: 24,801,068 (GRCm39)	R113L	probably damaging	Het
Son	T	A	16: 91,456,257 (GRCm39)	M1668K	possibly damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Tcf25	A	G	8: 124,122,369 (GRCm39)	D434G	probably benign	Het
Tcof1	CCAGAGATCCCC	CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC	18: 60,966,640 (GRCm39)		probably benign	Het
Tep1	A	G	14: 51,098,402 (GRCm39)	V463A	possibly damaging	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	AAG	AAGCAG	14: 53,887,212 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,887,208 (GRCm39)		probably benign	Het
Trim24	A	G	6: 37,930,471 (GRCm39)	K642E	possibly damaging	Het
Trim33	GGCCCCCGC	GGC	3: 103,187,533 (GRCm39)		probably benign	Het
Triobp	CTCCCTGTGCCCAACGG	CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG	15: 78,851,244 (GRCm39)		probably benign	Het
Trmu	G	T	15: 85,776,770 (GRCm39)	V161L	possibly damaging	Het
Try4	T	A	6: 41,282,297 (GRCm39)	C206S	probably damaging	Het
Usp2	TTCACTTAC	TTCACTTACTCATGTGACCTGTTCGTCACTTAC	9: 44,000,418 (GRCm39)		probably benign	Het
Vmn1r62	A	T	7: 5,678,669 (GRCm39)	M117L	probably benign	Het
Vmn2r104	A	T	17: 20,268,302 (GRCm39)	Y56N	probably benign	Het
Xxylt1	C	T	16: 30,869,498 (GRCm39)	D201N	possibly damaging	Het
Zfp563	T	A	17: 33,323,999 (GRCm39)	I198K	probably benign	Het
Zfp612	T	A	8: 110,816,174 (GRCm39)	C460*	probably null	Het
Zfp691	G	A	4: 119,027,932 (GRCm39)	T100M	probably benign	Het
Zfp773	A	T	7: 7,135,689 (GRCm39)	C302*	probably null	Het
Zmat2	A	G	18: 36,930,936 (GRCm39)	E154G	probably damaging	Het
Zw10	T	A	9: 48,972,220 (GRCm39)	I132N	possibly 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
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
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
Z1177:Col1a1	UTSW	11	94,834,630 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GTGCTACTGGAGTTCAAGGTC -3'
(R):5'- TTCGTGGGGATGCCAAAGAG -3'

Sequencing Primer
(F):5'- TGGAGTTCAAGGTCCCCCAG -3'
(R):5'- GCCAAAGAGAGGCCAAACAAG -3'

Posted On

2019-12-04