Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:Col27a1'

416960

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 #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

63132246-63253228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63232959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 359 (Y359F)

Ref Sequence

ENSEMBL: ENSMUSP00000139182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036300] [ENSMUST00000183913] [ENSMUST00000184067]

AlphaFold

Q5QNQ9

Predicted Effect

unknown
Transcript: ENSMUST00000036300
AA Change: Y1295F

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: Y1295F

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 damaging
Transcript: ENSMUST00000183913
AA Change: Y359F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672
AA Change: Y359F

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

unknown
Transcript: ENSMUST00000184067
AA Change: Y680F

SMART Domains

Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
AA Change: Y680F

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,302 (GRCm39)	F762L	probably benign	Het
Angpt1	T	A	15: 42,359,808 (GRCm39)	E208V	possibly damaging	Het
Arhgef18	A	T	8: 3,438,023 (GRCm39)	I286F	probably benign	Het
Arhgef5	T	C	6: 43,250,934 (GRCm39)	S562P	possibly damaging	Het
Asb6	T	C	2: 30,714,496 (GRCm39)	T205A	probably benign	Het
B4galnt4	G	A	7: 140,647,354 (GRCm39)		probably null	Het
Clca4a	A	T	3: 144,659,627 (GRCm39)	M743K	probably benign	Het
Col14a1	T	C	15: 55,312,217 (GRCm39)		probably benign	Het
Dhcr7	T	A	7: 143,394,234 (GRCm39)	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,373,890 (GRCm39)		probably null	Het
Fnbp1l	A	G	3: 122,351,598 (GRCm39)	V315A	probably benign	Het
Gm17174	T	A	14: 51,829,420 (GRCm39)	R48*	probably null	Het
Golga4	C	T	9: 118,366,301 (GRCm39)		probably benign	Het
Grin1	C	T	2: 25,188,405 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,765,401 (GRCm39)	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,733,543 (GRCm39)	S93P	probably benign	Het
Il27ra	A	G	8: 84,757,751 (GRCm39)	V594A	probably benign	Het
Krr1	T	G	10: 111,815,959 (GRCm39)	S275R	probably benign	Het
Lars1	T	C	18: 42,354,571 (GRCm39)	D792G	probably benign	Het
Myo1f	G	A	17: 33,817,168 (GRCm39)	R737H	probably damaging	Het
Nebl	T	A	2: 17,418,522 (GRCm39)	H292L	probably damaging	Het
Nell1	C	A	7: 49,712,359 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,577,242 (GRCm39)	F412L	probably benign	Het
Nlrp3	T	A	11: 59,439,842 (GRCm39)	I473N	probably damaging	Het
Or1j10	T	C	2: 36,267,063 (GRCm39)	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,844,810 (GRCm39)	V1383A	probably damaging	Het
Prss48	T	C	3: 85,904,625 (GRCm39)	E191G	probably damaging	Het
Psg25	T	A	7: 18,263,699 (GRCm39)	L41F	probably benign	Het
Sema3b	A	G	9: 107,481,276 (GRCm39)	L78P	probably damaging	Het
Spen	G	T	4: 141,197,280 (GRCm39)	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,420,104 (GRCm39)	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,172,491 (GRCm39)		probably benign	Het
Vmn1r218	T	C	13: 23,320,788 (GRCm39)	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,789,493 (GRCm39)	Y748F	probably damaging	Het
Vps18	C	T	2: 119,127,963 (GRCm39)	R929W	probably damaging	Het
Xpnpep1	T	C	19: 52,998,577 (GRCm39)	K224E	probably damaging	Het
Zbed5	T	A	5: 129,931,196 (GRCm39)	F382I	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
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