Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01534:Col27a1'

89893

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 #

IGL01534

Quality Score

Status

Chromosome

Chromosomal Location

63132246-63253228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63144019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 569 (R569Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043816 (fasta)

Gene Model

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

AlphaFold

Q5QNQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000036300
AA Change: R569Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: R569Q

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,197,146 (GRCm39)	L111P	possibly damaging	Het
Adck5	C	A	15: 76,478,926 (GRCm39)	H383Q	probably damaging	Het
Arb2a	T	A	13: 78,147,830 (GRCm39)		probably benign	Het
Asns	T	A	6: 7,675,397 (GRCm39)	H535L	probably benign	Het
Atf5	A	G	7: 44,462,462 (GRCm39)	S221P	probably damaging	Het
Atr	T	C	9: 95,747,599 (GRCm39)	Y294H	probably damaging	Het
B230307C23Rik	A	G	16: 97,809,961 (GRCm39)		probably benign	Het
C1qtnf6	C	T	15: 78,409,416 (GRCm39)	E144K	probably benign	Het
Casp8ap2	C	T	4: 32,648,134 (GRCm39)		probably benign	Het
Cd48	C	A	1: 171,523,307 (GRCm39)	P50Q	possibly damaging	Het
Cnnm4	T	C	1: 36,538,596 (GRCm39)	Y593H	probably benign	Het
Cubn	A	T	2: 13,470,744 (GRCm39)	C549*	probably null	Het
Dsg1a	T	A	18: 20,474,053 (GRCm39)	M1042K	probably benign	Het
Dzip1	T	A	14: 119,114,651 (GRCm39)	T835S	probably damaging	Het
Eif3c	T	C	7: 126,156,867 (GRCm39)	T389A	probably benign	Het
Erlin2	G	T	8: 27,521,985 (GRCm39)	E177*	probably null	Het
Gabrb1	T	A	5: 72,026,772 (GRCm39)	S91T	possibly damaging	Het
Grik3	T	C	4: 125,579,983 (GRCm39)	V576A	probably damaging	Het
Gtpbp2	T	A	17: 46,474,430 (GRCm39)	Y70N	probably damaging	Het
Idh3a	T	A	9: 54,508,506 (GRCm39)		probably benign	Het
Ift74	G	A	4: 94,568,181 (GRCm39)	R406H	probably benign	Het
Kcna7	C	A	7: 45,055,935 (GRCm39)	N50K	probably damaging	Het
Kcnd2	T	C	6: 21,726,144 (GRCm39)	S546P	probably benign	Het
Lrp4	G	A	2: 91,303,986 (GRCm39)	D134N	probably damaging	Het
Mcm2	A	G	6: 88,864,700 (GRCm39)		probably null	Het
Nlrp12	T	C	7: 3,288,463 (GRCm39)	Y683C	probably benign	Het
Or14j3	A	T	17: 37,900,963 (GRCm39)	Y94N	possibly damaging	Het
Or2d4	T	A	7: 106,543,546 (GRCm39)	I221F	probably damaging	Het
Or8i2	A	G	2: 86,852,228 (GRCm39)	I220T	probably damaging	Het
Or9i1	A	T	19: 13,839,283 (GRCm39)	N42I	probably damaging	Het
Or9i14	T	A	19: 13,792,666 (GRCm39)	H96L	probably benign	Het
P2rx7	A	C	5: 122,814,761 (GRCm39)	I409L	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Rabggtb	A	G	3: 153,615,896 (GRCm39)		probably null	Het
Rgs4	A	T	1: 169,572,085 (GRCm39)	C71*	probably null	Het
Rnase10	T	C	14: 51,245,436 (GRCm39)	F5L	probably benign	Het
Scn11a	T	A	9: 119,609,888 (GRCm39)	T987S	probably benign	Het
Shox2	A	C	3: 66,885,696 (GRCm39)	D126E	probably benign	Het
Slc12a1	A	G	2: 125,059,830 (GRCm39)	D910G	probably damaging	Het
Slc15a1	C	T	14: 121,702,364 (GRCm39)	C594Y	possibly damaging	Het
Spock2	C	T	10: 59,962,883 (GRCm39)		probably benign	Het
Togaram1	G	T	12: 65,013,321 (GRCm39)	D191Y	probably damaging	Het
Triml2	T	C	8: 43,640,660 (GRCm39)	V172A	probably benign	Het
Tubb3	C	T	8: 124,147,705 (GRCm39)	R213C	probably benign	Het
Vmn2r4	A	T	3: 64,313,844 (GRCm39)	V379E	probably damaging	Het
Zfp446	C	T	7: 12,713,493 (GRCm39)	P153L	probably damaging	Het
Zfp608	A	T	18: 55,032,004 (GRCm39)	N645K	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
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
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

2013-12-03