Mutagenetix > Incidental Mutation

Incidental Mutation 'R0005:Col27a1'

63922

Institutional Source

Beutler Lab

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

5730512J02Rik

MMRRC Submission

038301-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0005 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

63132246-63253228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63143637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 442 (T442A)

Ref Sequence

ENSEMBL: ENSMUSP00000043816 (fasta)

Gene Model

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

AlphaFold

Q5QNQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000036300
AA Change: T442A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: T442A

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

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

98% (63/64)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2l	A	G	7: 126,097,446 (GRCm39)	F201L	probably damaging	Het
Camsap3	T	A	8: 3,654,288 (GRCm39)	F653I	probably damaging	Het
Cemip2	A	G	19: 21,789,584 (GRCm39)	T595A	probably damaging	Het
Col11a2	C	T	17: 34,281,853 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,484,880 (GRCm39)		probably null	Het
Enpp4	T	C	17: 44,413,066 (GRCm39)	N156S	probably benign	Het
Fat3	T	A	9: 15,874,162 (GRCm39)	N3485I	probably damaging	Het
Gabra2	C	T	5: 71,130,779 (GRCm39)	V350I	probably benign	Het
H2-T5	G	T	17: 36,473,084 (GRCm39)		probably benign	Het
Hivep2	A	G	10: 14,004,493 (GRCm39)	T364A	probably damaging	Het
Kif1b	A	T	4: 149,266,384 (GRCm39)	V402E	probably damaging	Het
Lamc3	A	G	2: 31,812,440 (GRCm39)	D959G	probably benign	Het
Mag	T	A	7: 30,607,779 (GRCm39)		probably benign	Het
Map3k1	A	G	13: 111,892,238 (GRCm39)	F1006L	probably benign	Het
Mapre2	G	A	18: 23,986,750 (GRCm39)	G54D	probably damaging	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myadm	C	T	7: 3,346,080 (GRCm39)	Q281*	probably null	Het
Mylk3	A	T	8: 86,053,832 (GRCm39)	V625D	possibly damaging	Het
Nlrp9a	T	C	7: 26,273,213 (GRCm39)		probably benign	Het
Or8d6	A	G	9: 39,854,252 (GRCm39)	D232G	probably benign	Het
Plcz1	T	A	6: 139,986,290 (GRCm39)		probably benign	Het
Plekhg5	TCCCCC	TCC	4: 152,197,108 (GRCm39)		probably benign	Het
Plekhh2	A	C	17: 84,893,861 (GRCm39)	D892A	probably benign	Het
Ppih	A	G	4: 119,175,798 (GRCm39)		probably benign	Het
Pramel13	G	T	4: 144,122,423 (GRCm39)	F40L	probably damaging	Het
Rtn4ip1	A	T	10: 43,808,474 (GRCm39)	M84L	probably benign	Het
Slc35f4	G	A	14: 49,559,943 (GRCm39)		probably benign	Het
Spocd1	G	T	4: 129,850,571 (GRCm39)	D866Y	possibly damaging	Het
Stxbp4	C	T	11: 90,439,743 (GRCm39)	R365Q	possibly damaging	Het
Tmed4	C	T	11: 6,221,781 (GRCm39)	R185H	probably damaging	Het
Tnfsf9	T	C	17: 57,414,236 (GRCm39)	V221A	possibly damaging	Het
Trappc14	T	C	5: 138,260,916 (GRCm39)		probably null	Het
Vsx2	C	A	12: 84,617,015 (GRCm39)	P100Q	possibly damaging	Het
Wdr48	T	A	9: 119,738,500 (GRCm39)	D53E	probably benign	Het
Zfp335	T	A	2: 164,751,222 (GRCm39)	S115C	possibly damaging	Het
Zfp608	G	A	18: 55,028,592 (GRCm39)	P1274S	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
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

Predicted Primers

PCR Primer
(F):5'- TTCCACCAGGGTTTATCGTCCAGC -3'
(R):5'- CCAGCAGGAGTTAAAGCAGAGTCAC -3'

Sequencing Primer
(F):5'- TTTCAGTTACCCCCATGAAAAGTC -3'
(R):5'- TCTAGGATTTCCAACACCCAAAGG -3'

Posted On

2013-07-30