Mutagenetix > Incidental Mutation

Incidental Mutation 'R0518:Col13a1'

48318

Institutional Source

Beutler Lab

Gene Symbol

Col13a1

Ensembl Gene

ENSMUSG00000058806

Gene Name

collagen, type XIII, alpha 1

Synonyms

MMRRC Submission

038711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61674015-61814887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61698525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 512 (M512K)

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

unknown
Transcript: ENSMUST00000105452
AA Change: M503K

SMART Domains

Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806
AA Change: M503K

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

unknown
Transcript: ENSMUST00000105453
AA Change: M481K

SMART Domains

Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806
AA Change: M481K

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

unknown
Transcript: ENSMUST00000105454
AA Change: M512K

SMART Domains

Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806
AA Change: M512K

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

Predicted Effect

unknown
Transcript: ENSMUST00000145469
AA Change: M52K

SMART Domains

Protein: ENSMUSP00000117248
Gene: ENSMUSG00000058806
AA Change: M52K

Domain	Start	End	E-Value	Type
Pfam:Collagen	8	67	1.1e-12	PFAM
Pfam:Collagen	93	156	7.2e-12	PFAM
Pfam:Collagen	170	239	9.6e-12	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,181,112 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acsm5	T	C	7: 119,135,023 (GRCm39)	V327A	possibly damaging	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Akr1c14	T	C	13: 4,131,016 (GRCm39)	L236S	probably damaging	Het
Ammecr1l	C	T	18: 31,904,954 (GRCm39)	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Arhgef16	G	T	4: 154,375,491 (GRCm39)	P168T	probably damaging	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Cacna1s	C	A	1: 136,004,597 (GRCm39)	D132E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Coa3	T	A	11: 101,169,716 (GRCm39)	K13M	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Cryba2	T	C	1: 74,929,284 (GRCm39)	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,292,000 (GRCm39)	V93A	probably damaging	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Cyp2r1	T	G	7: 114,152,135 (GRCm39)	H274P	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Dnai4	A	C	4: 102,921,727 (GRCm39)	Y464*	probably null	Het
Dnd1	A	G	18: 36,897,096 (GRCm39)	V350A	possibly damaging	Het
Dsg1b	A	T	18: 20,521,221 (GRCm39)	Q26L	probably benign	Het
Fam20b	C	A	1: 156,515,026 (GRCm39)	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Hsd3b7	A	G	7: 127,402,251 (GRCm39)	T330A	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Kti12	T	A	4: 108,705,776 (GRCm39)	V230E	possibly damaging	Het
Lhfpl7	T	A	5: 113,383,873 (GRCm39)	L97*	probably null	Het
Mgat5	T	A	1: 127,312,584 (GRCm39)	I241N	probably damaging	Het
Mkln1	A	G	6: 31,445,067 (GRCm39)	N321S	probably benign	Het
Mllt10	T	G	2: 18,076,017 (GRCm39)		probably null	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343 (GRCm39)	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,781,876 (GRCm39)		probably null	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
P2ry14	T	A	3: 59,022,625 (GRCm39)	E287D	probably damaging	Het
Pank4	A	T	4: 155,061,082 (GRCm39)	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,629,915 (GRCm39)	V347E	possibly damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,033,730 (GRCm39)	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,342,314 (GRCm39)	D648G	probably damaging	Het
Ptprs	A	G	17: 56,726,621 (GRCm39)		probably null	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Rigi	C	T	4: 40,216,354 (GRCm39)		probably null	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Ski	A	G	4: 155,243,743 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Slc25a36	A	T	9: 96,979,228 (GRCm39)	I71N	probably damaging	Het
Syne2	A	C	12: 76,155,636 (GRCm39)		probably null	Het
Tdrd5	C	A	1: 156,090,511 (GRCm39)	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,365,389 (GRCm39)	I192V	possibly damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Trank1	A	C	9: 111,162,876 (GRCm39)	D45A	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Trim9	A	T	12: 70,393,359 (GRCm39)	L195Q	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,933,883 (GRCm39)	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
R5072:Col13a1	UTSW	10	61,709,797 (GRCm39)	splice site	silent
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'- ACACCAGCATTTATACGGTGAGTGG -3'
(R):5'- TTTCATGCAGTACCAGTGAGCCC -3'

Sequencing Primer
(F):5'- GTTTTCTGAACTCTGGAACAGC -3'
(R):5'- GTCCTTTGACCACCAAGCTTT -3'

Posted On

2013-06-12