Mutagenetix > Incidental Mutations

Incidental Mutation 'R6792:Col27a1'

532630

Institutional Source

Beutler Lab

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63214004-63334991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63317503 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 724 (R724L)

Ref Sequence

ENSEMBL: ENSMUSP00000139173 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000036300
AA Change: R1339L

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: R1339L

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

unknown
Transcript: ENSMUST00000183913
AA Change: R403L

SMART Domains

Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672
AA Change: R403L

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

unknown
Transcript: ENSMUST00000184067
AA Change: R724L

SMART Domains

Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
AA Change: R724L

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

Meta Mutation Damage Score

0.1344

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,115	E316G	possibly damaging	Het
4932438A13Rik	A	G	3: 37,011,566		probably null	Het
A2ml1	G	A	6: 128,546,329	Q1215*	probably null	Het
Akap2	A	G	4: 57,855,880	D403G	possibly damaging	Het
Aldh2	C	T	5: 121,580,649	G64R	probably damaging	Het
Atp11a	G	A	8: 12,861,939		probably benign	Het
Bcl11b	T	C	12: 107,989,734	D52G	probably damaging	Het
Capg	T	A	6: 72,555,554	I34K	possibly damaging	Het
Card11	T	A	5: 140,913,309	I37F	probably damaging	Het
Cryl1	T	C	14: 57,382,767	E47G	probably damaging	Het
Dgkb	A	T	12: 38,100,425	D70V	possibly damaging	Het
Dscam	T	C	16: 96,593,255	E1949G	probably damaging	Het
Dscam	A	G	16: 96,648,237	V1387A	probably damaging	Het
Exph5	G	A	9: 53,375,317	V1233M	possibly damaging	Het
Fat3	A	T	9: 16,375,644	V861E	probably damaging	Het
Fgfr4	T	G	13: 55,156,898	D184E	possibly damaging	Het
Fkbp14	G	T	6: 54,585,852	S49*	probably null	Het
Ginm1	T	C	10: 7,773,983	D182G	probably damaging	Het
Gk2	T	C	5: 97,455,729	I417V	probably benign	Het
Gm21677	A	G	Y: 3,298,867	Y206H	possibly damaging	Homo
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,499,476		probably benign	Het
Malrd1	C	T	2: 16,150,756	P1992L	unknown	Het
Mapk6	A	T	9: 75,395,548	I221N	probably damaging	Het
Mup9	A	G	4: 60,421,355	V65A	possibly damaging	Het
Myo15b	A	G	11: 115,885,097	D805G	probably damaging	Het
Olfr1082	A	T	2: 86,593,939	D296E	probably benign	Het
Olfr69	A	G	7: 103,768,139	I86T	possibly damaging	Het
Otof	T	A	5: 30,375,634	H1588L	probably damaging	Het
Pde4a	A	G	9: 21,192,590	K145R	probably benign	Het
Pik3ap1	A	T	19: 41,321,626	D418E	probably benign	Het
Pilrb2	C	A	5: 137,868,590	R217M	possibly damaging	Het
Plcb2	T	C	2: 118,719,441	N232S	probably damaging	Het
Ppargc1b	C	A	18: 61,307,676	G724W	probably damaging	Het
Ppp2r5d	A	G	17: 46,704,856	S2P	probably benign	Het
Prr5l	T	G	2: 101,717,424	N252T	probably benign	Het
Rilp	A	T	11: 75,512,775	K348*	probably null	Het
Slc17a7	A	G	7: 45,174,875	E505G	possibly damaging	Het
Slc6a21	T	A	7: 45,279,885	M1K	probably null	Het
Sorcs1	T	C	19: 50,678,168	T101A	probably benign	Het
Sorl1	A	T	9: 42,099,263	V137E	probably damaging	Het
Stam2	T	C	2: 52,707,981	I270V	probably benign	Het
Synj2	G	A	17: 5,990,290	A214T	probably benign	Het
Tarsl2	G	T	7: 65,662,303	C321F	probably damaging	Het
Tcea1	T	A	1: 4,892,045	D229E	probably benign	Het
Tdrd9	C	T	12: 112,027,113	R692W	probably benign	Het
Tkfc	T	C	19: 10,594,524	T383A	probably benign	Het
Traf1	T	C	2: 34,956,275	D43G	probably benign	Het
Tubgcp6	C	T	15: 89,122,877		probably benign	Het
Vit	A	T	17: 78,579,399	Y152F	probably damaging	Het
Vmn1r66	A	T	7: 10,274,485	M207K	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
R1629:Col27a1	UTSW	4	63329863	utr 3 prime	probably benign
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
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
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'- TCACTAACTCCCAGAGTGGC -3'
(R):5'- CATAGTGGGCTGCTTTCTGCTC -3'

Sequencing Primer
(F):5'- AACTCCCAGAGTGGCCTTTG -3'
(R):5'- CTCCTTATGACTAGTGAAGAAAGGC -3'

Posted On

2018-08-29