Mutagenetix > Incidental Mutations

Incidental Mutation 'R8136:Col27a1'

632251

Institutional Source

Beutler Lab

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63214004-63334991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63283953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 960 (D960E)

Ref Sequence

ENSEMBL: ENSMUSP00000043816 (fasta)

Gene Model

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

AlphaFold

Q5QNQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000036300
AA Change: D960E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: D960E

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

probably benign
Transcript: ENSMUST00000183913
AA Change: D24E

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672
AA Change: D24E

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: D345E

SMART Domains

Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
AA Change: D345E

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

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Fam71e1	T	C	7: 44,500,280	F142L	probably damaging	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Gpr65	T	C	12: 98,275,156	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,951,867	C164S	probably benign	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Phf11a	A	G	14: 59,277,569	V221A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,650,035	R520C	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	probably damaging	Het
Zfp777	C	A	6: 48,044,625	R21L	probably benign	Het

Other mutations in Col27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Col27a1	APN	4	63300741	splice site	probably benign
IGL01461:Col27a1	APN	4	63224243	missense	probably damaging	1.00
IGL01534:Col27a1	APN	4	63225782	missense	probably benign	0.12
IGL01738:Col27a1	APN	4	63263779	splice site	probably benign
IGL01810:Col27a1	APN	4	63225631	missense	probably benign	0.21
IGL02127:Col27a1	APN	4	63225142	missense	possibly damaging	0.60
IGL02290:Col27a1	APN	4	63225926	missense	probably damaging	1.00
IGL02374:Col27a1	APN	4	63293249	missense	possibly damaging	0.86
IGL02548:Col27a1	APN	4	63318255	splice site	probably benign
IGL02792:Col27a1	APN	4	63315583	missense	unknown
IGL02931:Col27a1	APN	4	63331426	utr 3 prime	probably benign
IGL03107:Col27a1	APN	4	63324632	splice site	probably benign
IGL03121:Col27a1	APN	4	63225209	missense	probably benign	0.26
IGL03334:Col27a1	APN	4	63314722	missense	probably damaging	1.00
R0005:Col27a1	UTSW	4	63225400	missense	probably benign	0.04
R0025:Col27a1	UTSW	4	63275977	missense	probably damaging	1.00
R0141:Col27a1	UTSW	4	63265633	critical splice acceptor site	probably null
R0196:Col27a1	UTSW	4	63224266	missense	probably benign	0.02
R0359:Col27a1	UTSW	4	63314727	critical splice donor site	probably null
R0375:Col27a1	UTSW	4	63225661	missense	probably benign	0.23
R0432:Col27a1	UTSW	4	63225611	missense	possibly damaging	0.87
R0499:Col27a1	UTSW	4	63300741	splice site	probably benign
R0786:Col27a1	UTSW	4	63291578	critical splice donor site	probably null
R0891:Col27a1	UTSW	4	63305183	critical splice acceptor site	probably null
R1239:Col27a1	UTSW	4	63318915	splice site	probably benign
R1297:Col27a1	UTSW	4	63265631	splice site	probably benign
R1299:Col27a1	UTSW	4	63265631	splice site	probably benign
R1322:Col27a1	UTSW	4	63328566	utr 3 prime	probably benign
R1342:Col27a1	UTSW	4	63257114	critical splice donor site	probably null
R1446:Col27a1	UTSW	4	63224803	missense	probably damaging	1.00
R1629:Col27a1	UTSW	4	63329863	utr 3 prime	probably benign
R1644:Col27a1	UTSW	4	63328631	utr 3 prime	probably benign
R1774:Col27a1	UTSW	4	63225713	missense	probably damaging	1.00
R1807:Col27a1	UTSW	4	63331349	utr 3 prime	probably benign
R1952:Col27a1	UTSW	4	63283893	splice site	probably null
R1957:Col27a1	UTSW	4	63277794	missense	probably benign	0.03
R1970:Col27a1	UTSW	4	63273117	splice site	probably benign
R2164:Col27a1	UTSW	4	63225424	missense	probably benign	0.21
R3774:Col27a1	UTSW	4	63314726	missense	probably benign	0.00
R4078:Col27a1	UTSW	4	63224432	missense	probably damaging	1.00
R4353:Col27a1	UTSW	4	63225631	missense	probably benign	0.21
R4611:Col27a1	UTSW	4	63293506	missense	probably damaging	1.00
R4708:Col27a1	UTSW	4	63283913	missense	probably benign	0.01
R4884:Col27a1	UTSW	4	63275960	missense	possibly damaging	0.77
R5149:Col27a1	UTSW	4	63331427	utr 3 prime	probably benign
R5411:Col27a1	UTSW	4	63224665	missense	probably damaging	1.00
R5451:Col27a1	UTSW	4	63225239	missense	probably damaging	0.98
R5615:Col27a1	UTSW	4	63281114	missense	probably damaging	0.96
R5657:Col27a1	UTSW	4	63225310	missense	probably damaging	0.97
R5838:Col27a1	UTSW	4	63225528	missense	probably damaging	1.00
R6230:Col27a1	UTSW	4	63224282	missense	probably damaging	1.00
R6326:Col27a1	UTSW	4	63324441	utr 3 prime	probably benign
R6457:Col27a1	UTSW	4	63319464	utr 3 prime	probably benign
R6624:Col27a1	UTSW	4	63225011	missense	probably benign	0.00
R6792:Col27a1	UTSW	4	63317503	missense	unknown
R6848:Col27a1	UTSW	4	63302371	missense	probably benign
R6962:Col27a1	UTSW	4	63319501	utr 3 prime	probably benign
R7053:Col27a1	UTSW	4	63333167	utr 3 prime	probably benign
R7206:Col27a1	UTSW	4	63235346	missense	probably benign	0.29
R7586:Col27a1	UTSW	4	63225041	missense	probably damaging	1.00
R7698:Col27a1	UTSW	4	63225718	missense	possibly damaging	0.78
R7714:Col27a1	UTSW	4	63324486	critical splice donor site	probably null
R7916:Col27a1	UTSW	4	63224552	missense	probably damaging	1.00
R7943:Col27a1	UTSW	4	63318283	missense	unknown
R7988:Col27a1	UTSW	4	63331322	missense	unknown
R8243:Col27a1	UTSW	4	63225883	missense	probably damaging	1.00
R8245:Col27a1	UTSW	4	63225803	missense	probably damaging	0.97
R8350:Col27a1	UTSW	4	63329897	missense	unknown
R8437:Col27a1	UTSW	4	63319464	utr 3 prime	probably benign
R8450:Col27a1	UTSW	4	63329897	missense	unknown
R8542:Col27a1	UTSW	4	63321425	splice site	probably null
R8745:Col27a1	UTSW	4	63225916	missense	probably benign	0.02
R8821:Col27a1	UTSW	4	63224911	missense	probably benign	0.04
R8951:Col27a1	UTSW	4	63273074	missense	possibly damaging	0.92
R8970:Col27a1	UTSW	4	63215868	missense	unknown
R9115:Col27a1	UTSW	4	63313737	missense	unknown
R9185:Col27a1	UTSW	4	63328650	missense	unknown
R9291:Col27a1	UTSW	4	63224302	missense	probably damaging	0.99
R9404:Col27a1	UTSW	4	63275941	missense	not run
Z1176:Col27a1	UTSW	4	63225788	missense	probably damaging	0.99
Z1177:Col27a1	UTSW	4	63281289	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCACCTAGCTGTAGAGC -3'
(R):5'- GAACAATCCCCTGCTATCGG -3'

Sequencing Primer
(F):5'- GCTGTAGAGCATCTTTGAATTCC -3'
(R):5'- GCTATCGGACACGTAGTCTAC -3'

Posted On

2020-06-30