Mutagenetix > Incidental Mutation

Incidental Mutation 'R8787:Col1a1'

670718

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

068633-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94827050-94843868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94833634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 445 (V445A)

Ref Sequence

ENSEMBL: ENSMUSP00000001547 (fasta)

Gene Model

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

AlphaFold

P11087

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001547
AA Change: V445A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: V445A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,225,053 (GRCm39)	H511Y	possibly damaging	Het
Acp5	G	A	9: 22,038,489 (GRCm39)	R271*	probably null	Het
Adamts20	A	T	15: 94,184,294 (GRCm39)	V1503E	possibly damaging	Het
Adra2b	A	T	2: 127,206,417 (GRCm39)	E311D	probably benign	Het
Aldh18a1	T	C	19: 40,546,230 (GRCm39)	I556V	possibly damaging	Het
Alox12	C	A	11: 70,144,146 (GRCm39)	A116S	probably benign	Het
Alox5	G	T	6: 116,390,102 (GRCm39)	A552E	probably damaging	Het
Angpt1	G	T	15: 42,375,780 (GRCm39)	L159I	probably damaging	Het
Atp2b4	CTT	CTTTTT	1: 133,629,485 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,462,305 (GRCm39)	L726I	probably damaging	Het
Ccdc78	A	T	17: 26,006,807 (GRCm39)	T165S	probably benign	Het
Ccdc88b	T	C	19: 6,824,791 (GRCm39)	D1323G	probably damaging	Het
Chek1	A	T	9: 36,625,033 (GRCm39)	C349*	probably null	Het
Clec1a	A	T	6: 129,428,617 (GRCm39)	L21Q	possibly damaging	Het
Efcab7	A	G	4: 99,757,791 (GRCm39)	T313A	probably null	Het
Fads1	T	A	19: 10,170,325 (GRCm39)	Y288*	probably null	Het
Fgb	T	A	3: 82,953,969 (GRCm39)	T90S	probably benign	Het
Glg1	C	A	8: 111,888,114 (GRCm39)	V1026L	probably damaging	Het
Hadh	T	A	3: 131,027,825 (GRCm39)	Y313F	probably damaging	Het
Htr4	A	G	18: 62,570,853 (GRCm39)	I303V	possibly damaging	Het
Kcnn3	A	G	3: 89,552,757 (GRCm39)	D487G	possibly damaging	Het
L1td1	G	A	4: 98,625,814 (GRCm39)	V604I	probably benign	Het
Lao1	A	G	4: 118,825,565 (GRCm39)	T462A	probably damaging	Het
Lefty1	C	A	1: 180,764,118 (GRCm39)	A86E	probably damaging	Het
Lmx1b	T	C	2: 33,529,522 (GRCm39)	Y79C		Het
Lrp2	A	G	2: 69,382,745 (GRCm39)	C47R	probably damaging	Het
Mrc2	A	T	11: 105,238,465 (GRCm39)	N1204I	probably benign	Het
Ncf1	A	C	5: 134,254,145 (GRCm39)	Y209*	probably null	Het
Or14j7	T	A	17: 38,235,075 (GRCm39)	M206K	probably benign	Het
Or2ad1	A	T	13: 21,326,453 (GRCm39)	M258K	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Oxtr	T	G	6: 112,466,871 (GRCm39)		probably benign	Het
Pcdhac1	T	C	18: 37,224,942 (GRCm39)	V585A	probably damaging	Het
Pdcd11	T	G	19: 47,097,019 (GRCm39)	L755R	probably damaging	Het
Pkhd1	A	G	1: 20,358,461 (GRCm39)	V2705A	probably damaging	Het
Plch2	C	A	4: 155,070,875 (GRCm39)	G1168V	probably benign	Het
Prpf39	T	C	12: 65,089,555 (GRCm39)	Y98H	possibly damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf10	T	A	7: 112,554,738 (GRCm39)	D446E	probably benign	Het
Rgs13	T	C	1: 144,016,482 (GRCm39)	Y87C	probably damaging	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Smpd3	G	A	8: 106,982,377 (GRCm39)	R576C	probably damaging	Het
Spata31e1	T	C	13: 49,938,704 (GRCm39)	Y1002C	probably damaging	Het
Srsf11	A	T	3: 157,718,037 (GRCm39)	D382E	unknown	Het
Stpg1	T	A	4: 135,261,108 (GRCm39)	M306K	probably benign	Het
Svil	C	T	18: 5,059,332 (GRCm39)	Q696*	probably null	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Synj2	T	C	17: 6,036,514 (GRCm39)	F161S	possibly damaging	Het
Tek	T	C	4: 94,738,037 (GRCm39)	Y696H	probably damaging	Het
Tgfbr1	A	T	4: 47,405,555 (GRCm39)	D386V	possibly damaging	Het
Tgm4	G	T	9: 122,890,910 (GRCm39)	G503V	probably damaging	Het
Tnni3k	T	C	3: 154,645,691 (GRCm39)	E461G	probably damaging	Het
Tom1l1	A	T	11: 90,561,931 (GRCm39)	H232Q	probably benign	Het
Ubqln5	T	C	7: 103,778,329 (GRCm39)	N165S	probably benign	Het
Vmn1r24	G	A	6: 57,932,958 (GRCm39)	L187F	probably benign	Het
Vmn2r82	C	T	10: 79,213,894 (GRCm39)	T160I	probably damaging	Het
Vmn2r96	G	T	17: 18,818,250 (GRCm39)	G801V	probably damaging	Het
Vps39	A	G	2: 120,172,506 (GRCm39)	S176P	probably damaging	Het
Vsig10	C	A	5: 117,472,981 (GRCm39)	H191Q	probably benign	Het
Wtap	G	A	17: 13,186,488 (GRCm39)	S353L	possibly damaging	Het
Zmym4	T	G	4: 126,816,953 (GRCm39)	R248S	probably benign	Het
Zscan10	A	G	17: 23,829,011 (GRCm39)	S518G	probably benign	Het
Zscan29	A	T	2: 120,996,876 (GRCm39)	Y282N	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
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
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'- ACAAAGGAGACACTGGTGCC -3'
(R):5'- AAAGGCCAGTGAGCCTATTACC -3'

Sequencing Primer
(F):5'- CTGGTGCCAAAGGAGAACCC -3'
(R):5'- TATTACCATCACAGCACTGGG -3'

Posted On

2021-04-30