Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01810:Col27a1'

155813

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 #

IGL01810

Quality Score

Status

Chromosome

Chromosomal Location

63132246-63253228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63143868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 519 (A519S)

Ref Sequence

ENSEMBL: ENSMUSP00000043816 (fasta)

Gene Model

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

AlphaFold

Q5QNQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000036300
AA Change: A519S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: A519S

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: ENSMUST00000125504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148751

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	G	T	11: 101,308,185 (GRCm39)	Y10*	probably null	Het
Aass	C	A	6: 23,107,633 (GRCm39)	Q383H	probably damaging	Het
Bag1	T	C	4: 40,936,657 (GRCm39)	D333G	probably damaging	Het
Cap2	A	G	13: 46,793,425 (GRCm39)		probably benign	Het
Cr2	A	G	1: 194,841,903 (GRCm39)	V726A	possibly damaging	Het
Csmd2	A	G	4: 128,374,638 (GRCm39)		probably benign	Het
Dennd4c	A	G	4: 86,717,788 (GRCm39)	D595G	possibly damaging	Het
Ercc2	G	T	7: 19,127,374 (GRCm39)	R340L	probably damaging	Het
Espl1	A	G	15: 102,206,640 (GRCm39)	T35A	probably benign	Het
Fndc3a	A	G	14: 72,803,581 (GRCm39)	Y525H	probably benign	Het
Gm4922	T	C	10: 18,659,795 (GRCm39)	Q309R	probably benign	Het
Gm5263	T	C	1: 146,296,292 (GRCm39)		noncoding transcript	Het
Gm6563	A	C	19: 23,653,751 (GRCm39)	R180S	probably damaging	Het
Gpr182	C	A	10: 127,586,733 (GRCm39)	V73F	probably damaging	Het
Gramd1b	C	T	9: 40,227,069 (GRCm39)	R179H	probably damaging	Het
Hk1	C	T	10: 62,188,884 (GRCm39)	A10T	probably benign	Het
Hmgn3	C	A	9: 82,992,437 (GRCm39)		probably benign	Het
Il1b	C	T	2: 129,211,649 (GRCm39)	E24K	probably damaging	Het
Itgb6	G	T	2: 60,458,329 (GRCm39)	Q475K	probably benign	Het
Lrrc74b	A	G	16: 17,363,422 (GRCm39)	S368P	probably benign	Het
Mfsd2b	T	C	12: 4,916,469 (GRCm39)	T234A	possibly damaging	Het
Muc6	A	T	7: 141,237,327 (GRCm39)	Y270N	probably damaging	Het
Naip6	A	G	13: 100,424,603 (GRCm39)		probably benign	Het
Or4b13	A	T	2: 90,082,476 (GRCm39)	Y285*	probably null	Het
Pear1	G	A	3: 87,659,608 (GRCm39)	T742I	probably damaging	Het
Peli2	G	A	14: 48,493,491 (GRCm39)	V238I	probably benign	Het
Pira2	A	G	7: 3,847,611 (GRCm39)	L26P	probably damaging	Het
Pot1b	A	G	17: 55,969,521 (GRCm39)	V549A	possibly damaging	Het
Prdm16	T	C	4: 154,432,384 (GRCm39)	Y295C	probably benign	Het
Ptprd	A	T	4: 76,058,744 (GRCm39)		probably benign	Het
Rap1gap	A	T	4: 137,443,466 (GRCm39)	M145L	probably benign	Het
Setd7	A	T	3: 51,440,388 (GRCm39)		probably benign	Het
Ssx2ip	T	C	3: 146,133,765 (GRCm39)	I258T	probably benign	Het
Stard9	T	C	2: 120,529,565 (GRCm39)	Y1941H	possibly damaging	Het
Stxbp3	T	C	3: 108,707,468 (GRCm39)	E420G	probably benign	Het
Tpra1	T	C	6: 88,886,324 (GRCm39)	V101A	probably damaging	Het
Tpx2	G	T	2: 152,726,155 (GRCm39)	Q373H	probably damaging	Het
Ttn	C	T	2: 76,557,352 (GRCm39)	R29914Q	probably damaging	Het
Ubr3	T	C	2: 69,833,809 (GRCm39)		probably null	Het
Usp18	G	A	6: 121,230,730 (GRCm39)	G53D	probably damaging	Het
Vps13c	A	T	9: 67,863,062 (GRCm39)	H3026L	probably benign	Het
Zan	T	C	5: 137,461,888 (GRCm39)	E1097G	unknown	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
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
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

2014-02-04