Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:Col27a1'

172664

Institutional Source

Beutler Lab

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

5730512J02Rik

MMRRC Submission

039666-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63132246-63253228 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 63248100 bp (GRCm39)

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: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
Cbx2	A	G	11: 118,919,806 (GRCm39)	D457G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,645,063 (GRCm39)	V53A	probably damaging	Het
Fbl	G	T	7: 27,874,212 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Khdc1a	T	A	1: 21,421,121 (GRCm39)	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,355,012 (GRCm39)	T270A	probably benign	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Or5m3b	A	G	2: 85,871,766 (GRCm39)	T36A	probably damaging	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	Het

Other mutations in Col27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Col27a1	APN	4	63,218,978 (GRCm39)	splice site	probably benign
IGL01461:Col27a1	APN	4	63,142,480 (GRCm39)	missense	probably damaging	1.00
IGL01534:Col27a1	APN	4	63,144,019 (GRCm39)	missense	probably benign	0.12
IGL01738:Col27a1	APN	4	63,182,016 (GRCm39)	splice site	probably benign
IGL01810:Col27a1	APN	4	63,143,868 (GRCm39)	missense	probably benign	0.21
IGL02127:Col27a1	APN	4	63,143,379 (GRCm39)	missense	possibly damaging	0.60
IGL02290:Col27a1	APN	4	63,144,163 (GRCm39)	missense	probably damaging	1.00
IGL02374:Col27a1	APN	4	63,211,486 (GRCm39)	missense	possibly damaging	0.86
IGL02548:Col27a1	APN	4	63,236,492 (GRCm39)	splice site	probably benign
IGL02792:Col27a1	APN	4	63,233,820 (GRCm39)	missense	unknown
IGL02931:Col27a1	APN	4	63,249,663 (GRCm39)	utr 3 prime	probably benign
IGL03107:Col27a1	APN	4	63,242,869 (GRCm39)	splice site	probably benign
IGL03121:Col27a1	APN	4	63,143,446 (GRCm39)	missense	probably benign	0.26
IGL03334:Col27a1	APN	4	63,232,959 (GRCm39)	missense	probably damaging	1.00
R0005:Col27a1	UTSW	4	63,143,637 (GRCm39)	missense	probably benign	0.04
R0025:Col27a1	UTSW	4	63,194,214 (GRCm39)	missense	probably damaging	1.00
R0141:Col27a1	UTSW	4	63,183,870 (GRCm39)	critical splice acceptor site	probably null
R0196:Col27a1	UTSW	4	63,142,503 (GRCm39)	missense	probably benign	0.02
R0359:Col27a1	UTSW	4	63,232,964 (GRCm39)	critical splice donor site	probably null
R0375:Col27a1	UTSW	4	63,143,898 (GRCm39)	missense	probably benign	0.23
R0432:Col27a1	UTSW	4	63,143,848 (GRCm39)	missense	possibly damaging	0.87
R0499:Col27a1	UTSW	4	63,218,978 (GRCm39)	splice site	probably benign
R0786:Col27a1	UTSW	4	63,209,815 (GRCm39)	critical splice donor site	probably null
R0891:Col27a1	UTSW	4	63,223,420 (GRCm39)	critical splice acceptor site	probably null
R1239:Col27a1	UTSW	4	63,237,152 (GRCm39)	splice site	probably benign
R1297:Col27a1	UTSW	4	63,183,868 (GRCm39)	splice site	probably benign
R1299:Col27a1	UTSW	4	63,183,868 (GRCm39)	splice site	probably benign
R1322:Col27a1	UTSW	4	63,246,803 (GRCm39)	utr 3 prime	probably benign
R1342:Col27a1	UTSW	4	63,175,351 (GRCm39)	critical splice donor site	probably null
R1446:Col27a1	UTSW	4	63,143,040 (GRCm39)	missense	probably damaging	1.00
R1644:Col27a1	UTSW	4	63,246,868 (GRCm39)	utr 3 prime	probably benign
R1774:Col27a1	UTSW	4	63,143,950 (GRCm39)	missense	probably damaging	1.00
R1807:Col27a1	UTSW	4	63,249,586 (GRCm39)	utr 3 prime	probably benign
R1952:Col27a1	UTSW	4	63,202,130 (GRCm39)	splice site	probably null
R1957:Col27a1	UTSW	4	63,196,031 (GRCm39)	missense	probably benign	0.03
R1970:Col27a1	UTSW	4	63,191,354 (GRCm39)	splice site	probably benign
R2164:Col27a1	UTSW	4	63,143,661 (GRCm39)	missense	probably benign	0.21
R3774:Col27a1	UTSW	4	63,232,963 (GRCm39)	missense	probably benign	0.00
R4078:Col27a1	UTSW	4	63,142,669 (GRCm39)	missense	probably damaging	1.00
R4353:Col27a1	UTSW	4	63,143,868 (GRCm39)	missense	probably benign	0.21
R4611:Col27a1	UTSW	4	63,211,743 (GRCm39)	missense	probably damaging	1.00
R4708:Col27a1	UTSW	4	63,202,150 (GRCm39)	missense	probably benign	0.01
R4884:Col27a1	UTSW	4	63,194,197 (GRCm39)	missense	possibly damaging	0.77
R5149:Col27a1	UTSW	4	63,249,664 (GRCm39)	utr 3 prime	probably benign
R5411:Col27a1	UTSW	4	63,142,902 (GRCm39)	missense	probably damaging	1.00
R5451:Col27a1	UTSW	4	63,143,476 (GRCm39)	missense	probably damaging	0.98
R5615:Col27a1	UTSW	4	63,199,351 (GRCm39)	missense	probably damaging	0.96
R5657:Col27a1	UTSW	4	63,143,547 (GRCm39)	missense	probably damaging	0.97
R5838:Col27a1	UTSW	4	63,143,765 (GRCm39)	missense	probably damaging	1.00
R6230:Col27a1	UTSW	4	63,142,519 (GRCm39)	missense	probably damaging	1.00
R6326:Col27a1	UTSW	4	63,242,678 (GRCm39)	utr 3 prime	probably benign
R6457:Col27a1	UTSW	4	63,237,701 (GRCm39)	utr 3 prime	probably benign
R6624:Col27a1	UTSW	4	63,143,248 (GRCm39)	missense	probably benign	0.00
R6792:Col27a1	UTSW	4	63,235,740 (GRCm39)	missense	unknown
R6848:Col27a1	UTSW	4	63,220,608 (GRCm39)	missense	probably benign
R6962:Col27a1	UTSW	4	63,237,738 (GRCm39)	utr 3 prime	probably benign
R7053:Col27a1	UTSW	4	63,251,404 (GRCm39)	utr 3 prime	probably benign
R7206:Col27a1	UTSW	4	63,153,583 (GRCm39)	missense	probably benign	0.29
R7586:Col27a1	UTSW	4	63,143,278 (GRCm39)	missense	probably damaging	1.00
R7698:Col27a1	UTSW	4	63,143,955 (GRCm39)	missense	possibly damaging	0.78
R7714:Col27a1	UTSW	4	63,242,723 (GRCm39)	critical splice donor site	probably null
R7916:Col27a1	UTSW	4	63,142,789 (GRCm39)	missense	probably damaging	1.00
R7943:Col27a1	UTSW	4	63,236,520 (GRCm39)	missense	unknown
R7988:Col27a1	UTSW	4	63,249,559 (GRCm39)	missense	unknown
R8136:Col27a1	UTSW	4	63,202,190 (GRCm39)	missense	probably benign	0.06
R8243:Col27a1	UTSW	4	63,144,120 (GRCm39)	missense	probably damaging	1.00
R8245:Col27a1	UTSW	4	63,144,040 (GRCm39)	missense	probably damaging	0.97
R8350:Col27a1	UTSW	4	63,248,134 (GRCm39)	missense	unknown
R8437:Col27a1	UTSW	4	63,237,701 (GRCm39)	utr 3 prime	probably benign
R8450:Col27a1	UTSW	4	63,248,134 (GRCm39)	missense	unknown
R8542:Col27a1	UTSW	4	63,239,662 (GRCm39)	splice site	probably null
R8745:Col27a1	UTSW	4	63,144,153 (GRCm39)	missense	probably benign	0.02
R8821:Col27a1	UTSW	4	63,143,148 (GRCm39)	missense	probably benign	0.04
R8951:Col27a1	UTSW	4	63,191,311 (GRCm39)	missense	possibly damaging	0.92
R8970:Col27a1	UTSW	4	63,134,105 (GRCm39)	missense	unknown
R9115:Col27a1	UTSW	4	63,231,974 (GRCm39)	missense	unknown
R9185:Col27a1	UTSW	4	63,246,887 (GRCm39)	missense	unknown
R9291:Col27a1	UTSW	4	63,142,539 (GRCm39)	missense	probably damaging	0.99
R9404:Col27a1	UTSW	4	63,194,178 (GRCm39)	missense	possibly damaging	0.93
Z1176:Col27a1	UTSW	4	63,144,025 (GRCm39)	missense	probably damaging	0.99
Z1177:Col27a1	UTSW	4	63,199,526 (GRCm39)	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