Mutagenetix > Incidental Mutation

Incidental Mutation 'R5072:Col13a1'

500876

Institutional Source

Beutler Lab

Gene Symbol

Col13a1

Ensembl Gene

ENSMUSG00000058806

Gene Name

collagen, type XIII, alpha 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61674015-61814887 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 61709797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105452] [ENSMUST00000105453] [ENSMUST00000105454]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000051826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105451

Predicted Effect

silent
Transcript: ENSMUST00000105452

SMART Domains

Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806

Domain	Start	End	E-Value	Type
low complexity region	41	59	N/A	INTRINSIC
low complexity region	113	132	N/A	INTRINSIC
Pfam:Collagen	154	214	1.6e-12	PFAM
Pfam:Collagen	255	319	1.8e-10	PFAM
Pfam:Collagen	283	338	7.8e-11	PFAM
Pfam:Collagen	313	376	6.8e-10	PFAM
Pfam:Collagen	377	436	3e-10	PFAM
Pfam:Collagen	458	517	4.3e-12	PFAM
Pfam:Collagen	498	559	7.7e-12	PFAM
Pfam:Collagen	557	616	1.6e-11	PFAM
Pfam:Collagen	587	666	9.8e-8	PFAM
Pfam:Collagen	635	704	4e-11	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000105453

SMART Domains

Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806

Domain	Start	End	E-Value	Type
internal_repeat_5	17	30	7.25e-5	PROSPERO
low complexity region	41	59	N/A	INTRINSIC
low complexity region	113	132	N/A	INTRINSIC
internal_repeat_5	140	153	7.25e-5	PROSPERO
Pfam:Collagen	154	214	1.5e-12	PFAM
Pfam:Collagen	235	296	1e-10	PFAM
internal_repeat_2	297	328	1.33e-8	PROSPERO
internal_repeat_1	297	332	1.43e-12	PROSPERO
Pfam:Collagen	355	414	2.8e-10	PFAM
Pfam:Collagen	436	495	4.6e-12	PFAM
Pfam:Collagen	477	551	3.6e-8	PFAM
Pfam:Collagen	536	606	5.1e-10	PFAM
Pfam:Collagen	574	670	1.6e-7	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000105454

SMART Domains

Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806

Domain	Start	End	E-Value	Type
low complexity region	41	59	N/A	INTRINSIC
Pfam:Collagen	112	161	6.7e-9	PFAM
Pfam:Collagen	164	223	1.5e-11	PFAM
Pfam:Collagen	264	328	6.7e-10	PFAM
Pfam:Collagen	292	347	2.8e-10	PFAM
Pfam:Collagen	322	385	2.3e-9	PFAM
Pfam:Collagen	386	445	1.1e-9	PFAM
Pfam:Collagen	467	526	1.6e-11	PFAM
Pfam:Collagen	507	582	4.8e-9	PFAM
Pfam:Collagen	564	630	5.4e-9	PFAM
low complexity region	671	695	N/A	INTRINSIC
internal_repeat_2	698	723	7.38e-7	PROSPERO

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an allele lacking the transmembrane exhibit small muscle fibers and are susceptible to excerise-induced muscle damage and muscle inflammation. Mice homozygous for a knock-out allele exhibit tremors and abnormal neuromuscular junction morphology and endplate potential. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,414 (GRCm39)	H104Q	probably benign	Het
4933405L10Rik	A	G	8: 106,436,201 (GRCm39)	T158A	possibly damaging	Het
A1cf	T	C	19: 31,895,385 (GRCm39)	M156T	probably benign	Het
Abca15	A	G	7: 120,006,198 (GRCm39)	Y1620C	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox2	A	T	14: 8,241,374 (GRCm38)	Y579*	probably null	Het
Adnp	A	T	2: 168,024,921 (GRCm39)	S791R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Alx3	G	T	3: 107,512,109 (GRCm39)	S249I	possibly damaging	Het
Apob	A	G	12: 8,058,714 (GRCm39)	T2366A	probably benign	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Arid4a	T	C	12: 71,091,853 (GRCm39)	V213A	probably benign	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bpifa5	A	T	2: 154,007,892 (GRCm39)	E178V	probably damaging	Het
Car4	G	A	11: 84,854,193 (GRCm39)	E47K	probably benign	Het
Catsper1	T	C	19: 5,390,074 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,259,118 (GRCm39)	Q260L	probably benign	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ces5a	C	T	8: 94,261,296 (GRCm39)	V44M	probably damaging	Het
Cltc	A	G	11: 86,608,794 (GRCm39)	I741T	possibly damaging	Het
Cnst	C	A	1: 179,450,451 (GRCm39)	D638E	possibly damaging	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Ddx20	A	G	3: 105,590,191 (GRCm39)		probably null	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Epha4	T	C	1: 77,421,639 (GRCm39)	Y281C	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
Gtf2ird1	G	T	5: 134,419,787 (GRCm39)		probably null	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
H2ac20	C	T	3: 96,128,099 (GRCm39)		probably benign	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Irgc	T	C	7: 24,132,196 (GRCm39)	D207G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krtap1-4	C	G	11: 99,474,442 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,028,872 (GRCm39)	E365G	probably damaging	Het
Ly75	A	G	2: 60,206,307 (GRCm39)	Y121H	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Mllt10	C	A	2: 18,114,685 (GRCm39)	H52N	possibly damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo3b	C	A	2: 69,925,593 (GRCm39)	T20K	possibly damaging	Het
Nipsnap2	A	T	5: 129,816,644 (GRCm39)	K62N	probably damaging	Het
Nr1i3	C	T	1: 171,044,382 (GRCm39)	T169I	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Oprm1	A	G	10: 6,782,550 (GRCm39)	S398G	probably benign	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51k1	T	A	7: 103,661,325 (GRCm39)	R195W	probably damaging	Het
Or6k2	A	T	1: 173,986,527 (GRCm39)	I63F	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Pitrm1	T	C	13: 6,603,226 (GRCm39)	F91S	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Pygb	C	T	2: 150,643,498 (GRCm39)	T95M	probably damaging	Het
Rassf9	A	G	10: 102,381,766 (GRCm39)	K383E	probably damaging	Het
Rfk	T	A	19: 17,375,963 (GRCm39)	F86I	possibly damaging	Het
Rims2	T	C	15: 39,325,986 (GRCm39)	F773L	probably benign	Het
Sdcbp	A	G	4: 6,393,019 (GRCm39)	I218V	probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spen	A	T	4: 141,249,613 (GRCm39)	S58R	unknown	Het
St3gal2	T	C	8: 111,684,350 (GRCm39)	C3R	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Stat5b	T	C	11: 100,699,361 (GRCm39)		probably null	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tmem26	A	G	10: 68,611,178 (GRCm39)	T216A	probably damaging	Het
Ttn	A	G	2: 76,550,822 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,602,709 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,576,746 (GRCm39)	V24716I	probably damaging	Het
Uba5	T	C	9: 103,931,626 (GRCm39)	E202G	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn2r111	C	A	17: 22,767,022 (GRCm39)	C825F	probably damaging	Het
Vmn2r113	T	A	17: 23,177,329 (GRCm39)	C704*	probably null	Het
Vmn2r56	A	G	7: 12,427,983 (GRCm39)	I761T	probably benign	Het
Vmn2r98	C	T	17: 19,286,306 (GRCm39)	T268I	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp473	T	A	7: 44,381,943 (GRCm39)	I797F	probably damaging	Het
Zfp68	A	T	5: 138,604,579 (GRCm39)	D543E	probably benign	Het

Other mutations in Col13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Col13a1	APN	10	61,699,784 (GRCm39)	critical splice acceptor site	probably null
IGL00936:Col13a1	APN	10	61,712,069 (GRCm39)	missense	probably damaging	0.99
IGL00963:Col13a1	APN	10	61,674,476 (GRCm39)	utr 3 prime	probably benign
IGL01801:Col13a1	APN	10	61,679,393 (GRCm39)	missense	probably damaging	1.00
IGL02247:Col13a1	APN	10	61,797,124 (GRCm39)	missense	probably damaging	1.00
IGL02296:Col13a1	APN	10	61,697,804 (GRCm39)	intron	probably benign
IGL02430:Col13a1	APN	10	61,710,530 (GRCm39)	missense	probably benign	0.26
IGL02884:Col13a1	APN	10	61,741,064 (GRCm39)	splice site	probably benign
IGL03036:Col13a1	APN	10	61,729,692 (GRCm39)	critical splice donor site	probably null
IGL03145:Col13a1	APN	10	61,727,040 (GRCm39)	missense	probably benign	0.07
IGL03392:Col13a1	APN	10	61,721,490 (GRCm39)	missense	possibly damaging	0.88
R0027:Col13a1	UTSW	10	61,685,940 (GRCm39)	missense	unknown
R0440:Col13a1	UTSW	10	61,703,262 (GRCm39)	missense	possibly damaging	0.85
R0518:Col13a1	UTSW	10	61,698,525 (GRCm39)	missense	unknown
R0521:Col13a1	UTSW	10	61,698,525 (GRCm39)	missense	unknown
R0631:Col13a1	UTSW	10	61,723,129 (GRCm39)	nonsense	probably null
R1311:Col13a1	UTSW	10	61,699,789 (GRCm39)	splice site	probably benign
R1350:Col13a1	UTSW	10	61,729,848 (GRCm39)	splice site	probably benign
R1572:Col13a1	UTSW	10	61,702,205 (GRCm39)	splice site	probably null
R2401:Col13a1	UTSW	10	61,686,941 (GRCm39)	missense	unknown
R2883:Col13a1	UTSW	10	61,814,135 (GRCm39)	missense	probably benign	0.23
R2906:Col13a1	UTSW	10	61,696,267 (GRCm39)	intron	probably benign
R2964:Col13a1	UTSW	10	61,797,110 (GRCm39)	missense	probably damaging	1.00
R2965:Col13a1	UTSW	10	61,797,110 (GRCm39)	missense	probably damaging	1.00
R3703:Col13a1	UTSW	10	61,703,608 (GRCm39)	critical splice donor site	probably null
R3704:Col13a1	UTSW	10	61,703,608 (GRCm39)	critical splice donor site	probably null
R3844:Col13a1	UTSW	10	61,685,988 (GRCm39)	missense	unknown
R3928:Col13a1	UTSW	10	61,703,304 (GRCm39)	unclassified	probably benign
R3939:Col13a1	UTSW	10	61,698,861 (GRCm39)	missense	unknown
R4327:Col13a1	UTSW	10	61,699,758 (GRCm39)	missense	unknown
R4328:Col13a1	UTSW	10	61,699,758 (GRCm39)	missense	unknown
R4329:Col13a1	UTSW	10	61,699,758 (GRCm39)	missense	unknown
R4585:Col13a1	UTSW	10	61,723,024 (GRCm39)	splice site	probably null
R4705:Col13a1	UTSW	10	61,685,944 (GRCm39)	missense	unknown
R4864:Col13a1	UTSW	10	61,698,439 (GRCm39)	missense	unknown
R5074:Col13a1	UTSW	10	61,709,797 (GRCm39)	splice site	silent
R5114:Col13a1	UTSW	10	61,725,880 (GRCm39)	missense	possibly damaging	0.82
R5625:Col13a1	UTSW	10	61,679,388 (GRCm39)	missense	unknown
R5664:Col13a1	UTSW	10	61,686,895 (GRCm39)	missense	probably damaging	1.00
R5799:Col13a1	UTSW	10	61,684,919 (GRCm39)	intron	probably benign
R8482:Col13a1	UTSW	10	61,720,477 (GRCm39)	missense	probably damaging	1.00
R8989:Col13a1	UTSW	10	61,696,250 (GRCm39)	missense	unknown
R9181:Col13a1	UTSW	10	61,703,612 (GRCm39)	missense	possibly damaging	0.66
R9183:Col13a1	UTSW	10	61,699,758 (GRCm39)	missense	unknown
R9215:Col13a1	UTSW	10	61,685,990 (GRCm39)	critical splice acceptor site	probably null
R9307:Col13a1	UTSW	10	61,703,248 (GRCm39)	missense	unknown
Z1177:Col13a1	UTSW	10	61,741,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCTTCTGATGAAAGGGC -3'
(R):5'- AAACCTTCCCATCCTTTGAGG -3'

Sequencing Primer
(F):5'- CTTCTGATGAAAGGGCTTAGCAAG -3'
(R):5'- TTGGTCCAACATGCAGAACTG -3'

Posted On

2017-12-01