Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03107:Col27a1'

419022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

5730512J02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03107

Quality Score

Status

Chromosome

Chromosomal Location

63132246-63253228 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 63242869 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: G1571D

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: G1571D

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,518 (GRCm39)		noncoding transcript	Het
Angpt4	A	G	2: 151,785,342 (GRCm39)	M453V	probably benign	Het
Atr	T	A	9: 95,779,783 (GRCm39)	D1380E	probably benign	Het
Carmil1	A	T	13: 24,278,438 (GRCm39)	M177K	probably damaging	Het
Cenpk	T	A	13: 104,379,280 (GRCm39)	I203N	probably damaging	Het
Cerk	A	T	15: 86,027,014 (GRCm39)	N165K	probably benign	Het
Crb2	A	T	2: 37,681,428 (GRCm39)	D757V	probably benign	Het
Csnk1a1	A	G	18: 61,701,376 (GRCm39)	D91G	probably damaging	Het
Dnajc6	G	T	4: 101,474,057 (GRCm39)	W486L	probably damaging	Het
Elmod1	C	T	9: 53,841,507 (GRCm39)		probably benign	Het
Ercc3	G	T	18: 32,381,360 (GRCm39)	R392L	possibly damaging	Het
Fam135b	C	T	15: 71,335,410 (GRCm39)	V595I	probably benign	Het
Fem1al	T	A	11: 29,774,360 (GRCm39)	I366F	probably damaging	Het
Fermt1	A	T	2: 132,775,059 (GRCm39)	S256T	probably damaging	Het
Fstl5	G	T	3: 76,443,618 (GRCm39)	C321F	probably damaging	Het
Gpatch1	T	G	7: 35,002,742 (GRCm39)	N256T	probably benign	Het
Gpd2	T	A	2: 57,245,581 (GRCm39)	S425R	probably damaging	Het
Igkv4-57-1	T	G	6: 69,521,574 (GRCm39)	M43L	probably benign	Het
Itgae	A	G	11: 73,004,427 (GRCm39)	Q238R	probably damaging	Het
Lats1	T	A	10: 7,588,510 (GRCm39)	D1042E	probably benign	Het
Lcn8	G	A	2: 25,545,377 (GRCm39)	G156D	probably damaging	Het
Loxl4	A	C	19: 42,593,718 (GRCm39)	V224G	probably benign	Het
Lrp2	T	A	2: 69,285,177 (GRCm39)	D3827V	probably damaging	Het
Neb	C	A	2: 52,073,837 (GRCm39)	R231S	probably benign	Het
Or2g1	G	A	17: 38,106,679 (GRCm39)	V115I	probably benign	Het
Or5b105	A	T	19: 13,080,401 (GRCm39)	M89K	probably benign	Het
Or6c211	A	G	10: 129,505,809 (GRCm39)	M193T	probably benign	Het
Or6d13	T	G	6: 116,517,900 (GRCm39)	M162R	possibly damaging	Het
Or8g54	T	G	9: 39,707,475 (GRCm39)	M268R	probably benign	Het
Pappa	T	G	4: 65,122,940 (GRCm39)	S758R	probably damaging	Het
Pced1a	G	A	2: 130,264,755 (GRCm39)	T61I	possibly damaging	Het
Pik3cg	T	C	12: 32,250,594 (GRCm39)	D731G	probably damaging	Het
Plxnb1	G	A	9: 108,934,054 (GRCm39)	D761N	probably benign	Het
Pmp22	T	C	11: 63,049,135 (GRCm39)	V126A	probably benign	Het
Ppp6r2	G	T	15: 89,152,748 (GRCm39)	R296S	probably damaging	Het
Prkcq	A	C	2: 11,265,597 (GRCm39)	H438P	probably damaging	Het
Ryr1	T	A	7: 28,774,624 (GRCm39)	Y2339F	probably damaging	Het
Scaper	T	C	9: 55,765,686 (GRCm39)		probably benign	Het
Scp2	T	A	4: 107,955,312 (GRCm39)	I144F	probably benign	Het
Secisbp2	T	C	13: 51,806,793 (GRCm39)		probably null	Het
Sema5a	T	A	15: 32,669,554 (GRCm39)	Y693N	probably damaging	Het
Sin3b	T	A	8: 73,480,213 (GRCm39)	I905K	probably damaging	Het
Slc13a3	T	A	2: 165,279,227 (GRCm39)	M195L	probably benign	Het
Strada	A	G	11: 106,054,863 (GRCm39)		probably benign	Het
Stx18	G	A	5: 38,293,655 (GRCm39)	V294M	probably damaging	Het
Tbpl2	A	T	2: 23,983,845 (GRCm39)	N197K	probably benign	Het
Tdrd9	A	T	12: 112,009,274 (GRCm39)	H1060L	probably damaging	Het
Tm4sf5	G	A	11: 70,396,223 (GRCm39)	V23M	possibly damaging	Het
Tmem54	C	A	4: 129,004,705 (GRCm39)	L187I	probably damaging	Het
Tmprss5	A	G	9: 49,024,528 (GRCm39)	H281R	possibly damaging	Het
Trim30c	A	G	7: 104,031,820 (GRCm39)	Y332H	possibly damaging	Het
Uba6	T	A	5: 86,275,633 (GRCm39)		probably benign	Het
Unc80	C	A	1: 66,670,613 (GRCm39)	P1912Q	probably 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
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
R1629:Col27a1	UTSW	4	63,248,100 (GRCm39)	utr 3 prime	probably benign
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

Posted On

2016-08-02