Mutagenetix > Incidental Mutations

Incidental Mutation 'R1629:Col27a1'

172664

Institutional Source

Beutler Lab

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

MMRRC Submission

039666-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63214004-63334991 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 63329863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036300] [ENSMUST00000183913] [ENSMUST00000184067]

AlphaFold

Q5QNQ9

Predicted Effect

unknown
Transcript: ENSMUST00000036300
AA Change: T1710A

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: T1710A

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
TSPN	43	223	1.1e-5	SMART
low complexity region	325	343	N/A	INTRINSIC
low complexity region	356	372	N/A	INTRINSIC
low complexity region	428	443	N/A	INTRINSIC
low complexity region	455	467	N/A	INTRINSIC
low complexity region	584	597	N/A	INTRINSIC
Pfam:Collagen	609	670	2.1e-10	PFAM
Pfam:Collagen	666	731	3.7e-10	PFAM
low complexity region	790	808	N/A	INTRINSIC
low complexity region	817	838	N/A	INTRINSIC
low complexity region	858	880	N/A	INTRINSIC
low complexity region	886	910	N/A	INTRINSIC
low complexity region	912	946	N/A	INTRINSIC
Pfam:Collagen	1012	1080	2.8e-8	PFAM
Pfam:Collagen	1033	1103	3e-9	PFAM
Pfam:Collagen	1063	1130	3.4e-9	PFAM
low complexity region	1150	1168	N/A	INTRINSIC
Pfam:Collagen	1207	1281	5.5e-9	PFAM
Pfam:Collagen	1261	1324	8.4e-10	PFAM
Pfam:Collagen	1323	1384	3.8e-12	PFAM
low complexity region	1438	1466	N/A	INTRINSIC
internal_repeat_4	1467	1502	1.5e-7	PROSPERO
internal_repeat_2	1468	1529	1.96e-8	PROSPERO
Pfam:Collagen	1544	1606	2.4e-9	PFAM
COLFI	1644	1845	1.28e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151992

Predicted Effect

probably benign
Transcript: ENSMUST00000183913

SMART Domains

Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	60	2.7e-12	PFAM
Pfam:Collagen	34	114	6.6e-8	PFAM
Pfam:Collagen	87	163	3.6e-9	PFAM
low complexity region	175	202	N/A	INTRINSIC
low complexity region	214	232	N/A	INTRINSIC
Pfam:Collagen	271	338	9.1e-11	PFAM
Pfam:Collagen	328	388	5.4e-11	PFAM
Pfam:Collagen	387	442	4.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184067

SMART Domains

Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672

Domain	Start	End	E-Value	Type
Pfam:Collagen	23	87	2.1e-8	PFAM
Pfam:Collagen	57	145	8.3e-8	PFAM
Pfam:Collagen	115	200	9.9e-8	PFAM
low complexity region	202	223	N/A	INTRINSIC
low complexity region	243	265	N/A	INTRINSIC
low complexity region	271	295	N/A	INTRINSIC
low complexity region	297	331	N/A	INTRINSIC
internal_repeat_1	337	442	5.17e-20	PROSPERO
Pfam:Collagen	448	515	1.5e-9	PFAM
Pfam:Collagen	478	543	2e-10	PFAM
Pfam:Collagen	502	566	2.5e-9	PFAM
Pfam:Collagen	532	617	4.4e-7	PFAM
Pfam:Collagen	594	660	8.2e-11	PFAM
Pfam:Collagen	649	709	1.4e-10	PFAM
Pfam:Collagen	708	769	2e-12	PFAM
Pfam:Collagen	752	829	5e-8	PFAM
Pfam:Collagen	878	939	2.2e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of type XXVII collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 58,954,619	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC005624	T	C	2: 30,974,008	E191G	probably damaging	Het
Cbx2	A	G	11: 119,028,980	D457G	probably damaging	Het
Ccdc110	A	G	8: 45,942,127	K352E	probably benign	Het
Cdk14	A	T	5: 5,103,807	H183Q	probably benign	Het
Cfap58	A	G	19: 47,941,339	T80A	probably benign	Het
Cftr	C	T	6: 18,226,106	T351I	probably damaging	Het
Cp	T	A	3: 19,966,450		probably null	Het
Cpne8	A	T	15: 90,571,972	V196E	probably benign	Het
Dmxl1	T	G	18: 49,859,286		probably null	Het
Dnm2	T	A	9: 21,504,458	L642Q	probably damaging	Het
Dock2	G	T	11: 34,262,480		probably null	Het
Dock9	A	G	14: 121,543,574	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,824,701	V53A	probably damaging	Het
Fam208b	T	C	13: 3,574,121	H1943R	possibly damaging	Het
Fbl	G	T	7: 28,174,787		probably benign	Het
Fbn2	T	C	18: 58,026,538	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,610,974	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,356,860	F348I	probably benign	Het
Khdc1a	T	A	1: 21,350,897	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,464,186	T270A	probably benign	Het
Lama1	T	C	17: 67,805,428	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,613,495	E337G	possibly damaging	Het
Macf1	C	A	4: 123,508,415	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641	V209F	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh9	G	A	15: 77,764,401	R1725W	probably damaging	Het
Nbea	A	T	3: 56,002,891	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,563,986	A496T	probably benign	Het
Nufip2	A	G	11: 77,693,008	T583A	probably benign	Het
Olfr1033	A	G	2: 86,041,422	T36A	probably damaging	Het
Ppig	C	A	2: 69,735,873	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,019,759	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,669,799	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,064,988	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Slc1a7	A	G	4: 108,008,143	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,067,107	D221G	probably benign	Het
Smn1	C	A	13: 100,127,896	T45N	probably damaging	Het
Son	T	C	16: 91,657,622	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,492	Y45N	possibly damaging	Het
Tmem184c	A	C	8: 77,602,922	F170V	possibly damaging	Het
Tmem184c	A	T	8: 77,606,162		probably null	Het
Vmn1r59	C	T	7: 5,454,467	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,713,427	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,067,383	S493P	possibly damaging	Het

Other mutations in Col27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Col27a1	APN	4	63300741	splice site	probably benign
IGL01461:Col27a1	APN	4	63224243	missense	probably damaging	1.00
IGL01534:Col27a1	APN	4	63225782	missense	probably benign	0.12
IGL01738:Col27a1	APN	4	63263779	splice site	probably benign
IGL01810:Col27a1	APN	4	63225631	missense	probably benign	0.21
IGL02127:Col27a1	APN	4	63225142	missense	possibly damaging	0.60
IGL02290:Col27a1	APN	4	63225926	missense	probably damaging	1.00
IGL02374:Col27a1	APN	4	63293249	missense	possibly damaging	0.86
IGL02548:Col27a1	APN	4	63318255	splice site	probably benign
IGL02792:Col27a1	APN	4	63315583	missense	unknown
IGL02931:Col27a1	APN	4	63331426	utr 3 prime	probably benign
IGL03107:Col27a1	APN	4	63324632	splice site	probably benign
IGL03121:Col27a1	APN	4	63225209	missense	probably benign	0.26
IGL03334:Col27a1	APN	4	63314722	missense	probably damaging	1.00
R0005:Col27a1	UTSW	4	63225400	missense	probably benign	0.04
R0025:Col27a1	UTSW	4	63275977	missense	probably damaging	1.00
R0141:Col27a1	UTSW	4	63265633	critical splice acceptor site	probably null
R0196:Col27a1	UTSW	4	63224266	missense	probably benign	0.02
R0359:Col27a1	UTSW	4	63314727	critical splice donor site	probably null
R0375:Col27a1	UTSW	4	63225661	missense	probably benign	0.23
R0432:Col27a1	UTSW	4	63225611	missense	possibly damaging	0.87
R0499:Col27a1	UTSW	4	63300741	splice site	probably benign
R0786:Col27a1	UTSW	4	63291578	critical splice donor site	probably null
R0891:Col27a1	UTSW	4	63305183	critical splice acceptor site	probably null
R1239:Col27a1	UTSW	4	63318915	splice site	probably benign
R1297:Col27a1	UTSW	4	63265631	splice site	probably benign
R1299:Col27a1	UTSW	4	63265631	splice site	probably benign
R1322:Col27a1	UTSW	4	63328566	utr 3 prime	probably benign
R1342:Col27a1	UTSW	4	63257114	critical splice donor site	probably null
R1446:Col27a1	UTSW	4	63224803	missense	probably damaging	1.00
R1644:Col27a1	UTSW	4	63328631	utr 3 prime	probably benign
R1774:Col27a1	UTSW	4	63225713	missense	probably damaging	1.00
R1807:Col27a1	UTSW	4	63331349	utr 3 prime	probably benign
R1952:Col27a1	UTSW	4	63283893	splice site	probably null
R1957:Col27a1	UTSW	4	63277794	missense	probably benign	0.03
R1970:Col27a1	UTSW	4	63273117	splice site	probably benign
R2164:Col27a1	UTSW	4	63225424	missense	probably benign	0.21
R3774:Col27a1	UTSW	4	63314726	missense	probably benign	0.00
R4078:Col27a1	UTSW	4	63224432	missense	probably damaging	1.00
R4353:Col27a1	UTSW	4	63225631	missense	probably benign	0.21
R4611:Col27a1	UTSW	4	63293506	missense	probably damaging	1.00
R4708:Col27a1	UTSW	4	63283913	missense	probably benign	0.01
R4884:Col27a1	UTSW	4	63275960	missense	possibly damaging	0.77
R5149:Col27a1	UTSW	4	63331427	utr 3 prime	probably benign
R5411:Col27a1	UTSW	4	63224665	missense	probably damaging	1.00
R5451:Col27a1	UTSW	4	63225239	missense	probably damaging	0.98
R5615:Col27a1	UTSW	4	63281114	missense	probably damaging	0.96
R5657:Col27a1	UTSW	4	63225310	missense	probably damaging	0.97
R5838:Col27a1	UTSW	4	63225528	missense	probably damaging	1.00
R6230:Col27a1	UTSW	4	63224282	missense	probably damaging	1.00
R6326:Col27a1	UTSW	4	63324441	utr 3 prime	probably benign
R6457:Col27a1	UTSW	4	63319464	utr 3 prime	probably benign
R6624:Col27a1	UTSW	4	63225011	missense	probably benign	0.00
R6792:Col27a1	UTSW	4	63317503	missense	unknown
R6848:Col27a1	UTSW	4	63302371	missense	probably benign
R6962:Col27a1	UTSW	4	63319501	utr 3 prime	probably benign
R7053:Col27a1	UTSW	4	63333167	utr 3 prime	probably benign
R7206:Col27a1	UTSW	4	63235346	missense	probably benign	0.29
R7586:Col27a1	UTSW	4	63225041	missense	probably damaging	1.00
R7698:Col27a1	UTSW	4	63225718	missense	possibly damaging	0.78
R7714:Col27a1	UTSW	4	63324486	critical splice donor site	probably null
R7916:Col27a1	UTSW	4	63224552	missense	probably damaging	1.00
R7943:Col27a1	UTSW	4	63318283	missense	unknown
R7988:Col27a1	UTSW	4	63331322	missense	unknown
R8136:Col27a1	UTSW	4	63283953	missense	probably benign	0.06
R8243:Col27a1	UTSW	4	63225883	missense	probably damaging	1.00
R8245:Col27a1	UTSW	4	63225803	missense	probably damaging	0.97
R8350:Col27a1	UTSW	4	63329897	missense	unknown
R8437:Col27a1	UTSW	4	63319464	utr 3 prime	probably benign
R8450:Col27a1	UTSW	4	63329897	missense	unknown
R8542:Col27a1	UTSW	4	63321425	splice site	probably null
R8745:Col27a1	UTSW	4	63225916	missense	probably benign	0.02
R8821:Col27a1	UTSW	4	63224911	missense	probably benign	0.04
R8951:Col27a1	UTSW	4	63273074	missense	possibly damaging	0.92
R8970:Col27a1	UTSW	4	63215868	missense	unknown
R9115:Col27a1	UTSW	4	63313737	missense	unknown
R9185:Col27a1	UTSW	4	63328650	missense	unknown
R9291:Col27a1	UTSW	4	63224302	missense	probably damaging	0.99
R9404:Col27a1	UTSW	4	63275941	missense	possibly damaging	0.93
Z1176:Col27a1	UTSW	4	63225788	missense	probably damaging	0.99
Z1177:Col27a1	UTSW	4	63281289	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGCAGCCCTGTTGAGTCACC -3'
(R):5'- TGCCAGCCTGCTTTATTGTTGAGTC -3'

Sequencing Primer
(F):5'- CTGTTGAGTCACCAGTACAGGTC -3'
(R):5'- GACTATTCCCAGAGAAGCTAGGTTC -3'

Posted On

2014-04-24