Mutagenetix > Incidental Mutations

Incidental Mutation 'R0499:Col27a1'

47001

Institutional Source

Beutler Lab

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

MMRRC Submission

038695-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63214004-63334991 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 63300741 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139173 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036300

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672

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

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Acpp	T	C	9: 104,320,002	E146G	probably damaging	Het
Adap2	A	T	11: 80,176,079	R276S	probably damaging	Het
Agbl3	A	T	6: 34,839,335	M727L	probably benign	Het
Ahnak	T	A	19: 9,000,264		probably benign	Het
Ankmy1	G	T	1: 92,886,226	D410E	probably damaging	Het
Ankra2	T	C	13: 98,266,454	S70P	probably damaging	Het
Aox4	T	C	1: 58,263,397		probably null	Het
Arl13b	G	A	16: 62,801,733	T399I	probably benign	Het
Atad2	A	T	15: 58,103,240	D652E	possibly damaging	Het
Atad2	T	G	15: 58,120,949	M328L	probably benign	Het
BC052040	C	T	2: 115,642,691	R101W	probably damaging	Het
Ccnb1	T	C	13: 100,780,134		probably null	Het
Ccr2	G	C	9: 124,105,939	K85N	possibly damaging	Het
Ccr2	A	T	9: 124,106,126	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,055,950	V59A	probably benign	Het
Cdkl3	T	C	11: 52,032,416	S507P	possibly damaging	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1g	A	G	8: 93,333,689	F101L	probably benign	Het
Cntnap3	C	T	13: 64,858,678	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Cstf3	A	G	2: 104,649,605	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,761,217	T150A	probably benign	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Dopey2	A	T	16: 93,770,437	T1251S	probably benign	Het
Dtx2	G	A	5: 136,029,103	G421R	probably damaging	Het
Dusp27	C	A	1: 166,099,101	V981L	probably benign	Het
Epb41l3	T	A	17: 69,247,659	D251E	probably benign	Het
Erg	A	C	16: 95,360,983	Y305*	probably null	Het
Exosc4	G	A	15: 76,329,566	A197T	probably benign	Het
Fam227b	T	A	2: 126,100,909	I323L	probably benign	Het
Far1	G	T	7: 113,554,296		probably benign	Het
Fmod	A	G	1: 134,041,196	I325V	possibly damaging	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm17359	T	A	3: 79,405,786	W56R	probably damaging	Het
Gm17660	C	A	5: 104,074,881	G24*	probably null	Het
Gm4076	G	T	13: 85,127,226		noncoding transcript	Het
Gm5134	A	T	10: 75,992,525	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,425,203	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,254,672	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121	L268P	probably damaging	Het
Herc2	C	A	7: 56,184,369	C3107*	probably null	Het
Herc4	T	C	10: 63,264,032	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,921	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,147,984		probably null	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Il1r2	T	A	1: 40,123,149	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097	V190L	probably benign	Het
Ipo11	T	C	13: 106,925,087	T22A	probably benign	Het
Itgb4	C	A	11: 115,979,695	R117S	probably benign	Het
Lcorl	C	G	5: 45,734,369	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,398,193		probably null	Het
Lyst	T	A	13: 13,616,713	L54I	probably damaging	Het
Mcm9	T	C	10: 53,538,154	T1015A	probably benign	Het
Mef2d	T	A	3: 88,156,518	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,397,956	N261S	probably damaging	Het
Mpdz	T	C	4: 81,292,531	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,063,984	Y160N	probably damaging	Het
Muc6	T	C	7: 141,640,468	T1431A	probably benign	Het
Nek9	A	T	12: 85,301,883	M959K	probably benign	Het
Odf3l2	T	C	10: 79,640,265	D155G	probably damaging	Het
Olfr1311	A	T	2: 112,021,432	C141S	probably damaging	Het
Olfr319	G	A	11: 58,702,243	V181I	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,505	M258L	probably benign	Het
Otog	G	T	7: 46,273,832	G1044W	probably damaging	Het
Pcdh9	G	A	14: 93,886,235	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,527,651	K111R	probably damaging	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,937,971	V355A	probably damaging	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Psd	T	C	19: 46,322,161	E483G	probably damaging	Het
Ptch2	T	A	4: 117,111,143	L905*	probably null	Het
Rxfp2	T	A	5: 150,066,415	N420K	probably damaging	Het
Sde2	T	A	1: 180,862,427	D237E	probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Shc3	C	T	13: 51,480,228		probably benign	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Slc23a2	A	G	2: 132,072,017	L280P	probably damaging	Het
Smchd1	G	T	17: 71,387,088	Q1221K	probably benign	Het
Spocd1	A	G	4: 129,955,470	N694S	possibly damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,841,673	V172D	probably damaging	Het
Trpm3	T	C	19: 22,986,873	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,768,501	N478S	probably benign	Het
Usp36	A	G	11: 118,273,571	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,978,509	Q265L	probably damaging	Het
Vwf	A	T	6: 125,638,114	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,232,206	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,955,080		probably null	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
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	intron	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

Predicted Primers

PCR Primer
(F):5'- ACCCACCTCAGACTATGTACGGAAG -3'
(R):5'- GAACCAAGGACCGTTCTCACAGAAG -3'

Sequencing Primer
(F):5'- CTCAGACTATGTACGGAAGAGGAG -3'
(R):5'- ctctctctctctctctctctctc -3'

Posted On

2013-06-12