Mutagenetix > Incidental Mutations

Incidental Mutation 'R4705:Col13a1'

355140

Institutional Source

Beutler Lab

Gene Symbol

Col13a1

Ensembl Gene

ENSMUSG00000058806

Gene Name

collagen, type XIII, alpha 1

Synonyms

MMRRC Submission

041953-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61838236-61979108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61850165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 683 (G683W)

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: G653W

SMART Domains

Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806
AA Change: G653W

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: G619W

SMART Domains

Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806
AA Change: G619W

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: G683W

SMART Domains

Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806
AA Change: G683W

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: G187W

SMART Domains

Protein: ENSMUSP00000117248
Gene: ENSMUSG00000058806
AA Change: G187W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153120

Meta Mutation Damage Score

0.9409

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	T	C	9: 94,520,635	N325D	possibly damaging	Het
1700056E22Rik	A	G	1: 184,033,172	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,294,001	T123A	possibly damaging	Het
4932438A13Rik	C	T	3: 37,041,889	T1108I	probably benign	Het
Abca4	T	C	3: 122,105,370	V667A	probably damaging	Het
Abcb5	A	G	12: 118,965,305	S4P	possibly damaging	Het
Adam25	G	T	8: 40,754,126	C143F	probably damaging	Het
Ahnak	C	A	19: 9,016,906	H5185N	probably benign	Het
Apobec4	A	G	1: 152,756,250	T10A	probably benign	Het
Ascc1	A	G	10: 60,049,802	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,688,945	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,561,194	P483L	probably damaging	Het
Atp11a	C	G	8: 12,813,118	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,167,525	V172F	possibly damaging	Het
Bag6	C	A	17: 35,142,343	P476H	probably damaging	Het
BC049730	T	A	7: 24,713,509	L114Q	probably damaging	Het
C2cd3	A	G	7: 100,395,188	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,117,557	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,422,586	I107T	probably benign	Het
Cela2a	T	C	4: 141,821,411	N138S	probably benign	Het
Cfap61	A	C	2: 146,035,202	R460S	probably damaging	Het
Clstn2	T	C	9: 97,463,559	N579D	possibly damaging	Het
Col4a2	G	A	8: 11,313,504	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,481,058	S164P	probably benign	Het
Cpq	A	G	15: 33,497,338	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579	T690A	probably benign	Het
Cx3cl1	A	T	8: 94,780,207	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,757,292	R36C	probably benign	Het
Ddx51	T	C	5: 110,655,308	V269A	probably damaging	Het
Dlst	G	T	12: 85,118,842		probably null	Het
Dmkn	G	C	7: 30,763,981	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,655,741	I330T	probably damaging	Het
Dock3	G	A	9: 107,025,336	H292Y	probably damaging	Het
Ell	A	G	8: 70,578,934	D94G	possibly damaging	Het
Enam	T	A	5: 88,503,791	L1053*	probably null	Het
Fcgbp	A	G	7: 28,107,296	K2230E	probably benign	Het
Frmd5	G	T	2: 121,562,863		probably benign	Het
Gas2l1	G	A	11: 5,060,867	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,520,140	E86*	probably null	Het
Glyat	T	C	19: 12,651,297	L152P	possibly damaging	Het
Gm17330	T	C	12: 23,968,782	T22A	probably damaging	Het
Gm9931	T	A	1: 147,281,853		noncoding transcript	Het
Gpatch1	A	T	7: 35,299,305		probably null	Het
Gpr4	T	C	7: 19,222,894	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,491,114	E214K	probably benign	Het
Hdac7	G	T	15: 97,811,587	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,872,050		probably benign	Het
Hk2	C	T	6: 82,739,650	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,359,279	Y71C	probably damaging	Het
Il1f8	T	C	2: 24,154,618	V10A	probably benign	Het
Inpp5f	G	T	7: 128,663,987	S152I	probably damaging	Het
Jag1	C	A	2: 137,096,309	W257L	probably damaging	Het
Jak2	T	A	19: 29,294,915	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,203,957	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,452,606	D247G	probably benign	Het
Kif15	A	G	9: 122,959,993		probably null	Het
Kndc1	A	G	7: 139,930,123	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,082,207	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,232,143		probably benign	Het
Mfsd4a	A	T	1: 132,053,571	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,549	V313A	probably benign	Het
Mrpl19	A	T	6: 81,964,285	D98E	probably damaging	Het
Mybl1	A	G	1: 9,690,115	I86T	probably damaging	Het
Nadk	C	A	4: 155,585,227	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628	T117A	probably damaging	Het
Nol11	A	G	11: 107,184,718		probably benign	Het
Nucb2	G	A	7: 116,540,027		probably null	Het
Nupl1	G	T	14: 60,251,215	P19T	unknown	Het
Odf2	T	A	2: 29,904,034	L301Q	probably damaging	Het
Oit1	T	C	14: 8,349,347	E201G	probably benign	Het
Olfr374	T	A	8: 72,110,200	F211L	probably damaging	Het
Olfr736	A	G	14: 50,392,800	I15V	probably benign	Het
Oog4	T	C	4: 143,438,875	Y234C	probably benign	Het
Papln	T	C	12: 83,777,208		probably null	Het
Paqr6	C	T	3: 88,365,929	A76V	probably benign	Het
Pclo	A	G	5: 14,676,480		probably benign	Het
Pdzd8	T	C	19: 59,345,311	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,821,167	Y189*	probably null	Het
Pknox2	A	T	9: 36,923,638	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,163,059	M321K	probably benign	Het
Plxnd1	A	C	6: 115,958,620	L1735R	probably damaging	Het
Polm	T	A	11: 5,837,663	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,437,439	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,978,467	W414R	probably benign	Het
Rassf1	A	G	9: 107,557,867	D187G	probably benign	Het
Rhag	T	C	17: 40,836,438	I397T	probably benign	Het
Rnft2	A	G	5: 118,228,863	F269S	probably damaging	Het
Rnmt	T	C	18: 68,314,125	F360S	probably damaging	Het
Ror2	C	T	13: 53,117,297	A329T	probably benign	Het
Slc4a1	T	A	11: 102,356,258	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,100,660	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,140,462	N103K	probably benign	Het
Tbxas1	T	C	6: 39,083,857		probably null	Het
Tmem100	C	T	11: 90,035,563	T72I	probably damaging	Het
Ttc38	A	G	15: 85,852,963	T350A	probably benign	Het
Ubr4	C	T	4: 139,450,529	T3241M	probably damaging	Het
Unc13d	A	T	11: 116,073,388	M350K	possibly damaging	Het
Vit	T	C	17: 78,625,114	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,471,968	*304L	probably null	Het
Zbtb12	T	A	17: 34,896,401	H387Q	possibly damaging	Het

Other mutations in Col13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Col13a1	APN	10	61864005	critical splice acceptor site	probably null
IGL00936:Col13a1	APN	10	61876290	missense	probably damaging	0.99
IGL00963:Col13a1	APN	10	61838697	utr 3 prime	probably benign
IGL01801:Col13a1	APN	10	61843614	missense	probably damaging	1.00
IGL02247:Col13a1	APN	10	61961345	missense	probably damaging	1.00
IGL02296:Col13a1	APN	10	61862025	intron	probably benign
IGL02430:Col13a1	APN	10	61874751	missense	probably benign	0.26
IGL02884:Col13a1	APN	10	61905285	splice site	probably benign
IGL03036:Col13a1	APN	10	61893913	critical splice donor site	probably null
IGL03145:Col13a1	APN	10	61891261	missense	probably benign	0.07
IGL03392:Col13a1	APN	10	61885711	missense	possibly damaging	0.88
R0027:Col13a1	UTSW	10	61850161	missense	unknown
R0440:Col13a1	UTSW	10	61867483	missense	possibly damaging	0.85
R0518:Col13a1	UTSW	10	61862746	missense	unknown
R0521:Col13a1	UTSW	10	61862746	missense	unknown
R0631:Col13a1	UTSW	10	61887350	nonsense	probably null
R1311:Col13a1	UTSW	10	61864010	splice site	probably benign
R1350:Col13a1	UTSW	10	61894069	splice site	probably benign
R1572:Col13a1	UTSW	10	61866426	splice site	probably null
R2401:Col13a1	UTSW	10	61851162	missense	unknown
R2883:Col13a1	UTSW	10	61978356	missense	probably benign	0.23
R2906:Col13a1	UTSW	10	61860488	intron	probably benign
R2964:Col13a1	UTSW	10	61961331	missense	probably damaging	1.00
R2965:Col13a1	UTSW	10	61961331	missense	probably damaging	1.00
R3703:Col13a1	UTSW	10	61867829	critical splice donor site	probably null
R3704:Col13a1	UTSW	10	61867829	critical splice donor site	probably null
R3844:Col13a1	UTSW	10	61850209	missense	unknown
R3928:Col13a1	UTSW	10	61867525	unclassified	probably benign
R3939:Col13a1	UTSW	10	61863082	missense	unknown
R4327:Col13a1	UTSW	10	61863979	missense	unknown
R4328:Col13a1	UTSW	10	61863979	missense	unknown
R4329:Col13a1	UTSW	10	61863979	missense	unknown
R4585:Col13a1	UTSW	10	61887245	splice site	probably null
R4864:Col13a1	UTSW	10	61862660	missense	unknown
R5072:Col13a1	UTSW	10	61874018	splice site	silent
R5074:Col13a1	UTSW	10	61874018	splice site	silent
R5114:Col13a1	UTSW	10	61890101	missense	possibly damaging	0.82
R5625:Col13a1	UTSW	10	61843609	missense	unknown
R5664:Col13a1	UTSW	10	61851116	missense	probably damaging	1.00
R5799:Col13a1	UTSW	10	61849140	intron	probably benign
R8482:Col13a1	UTSW	10	61884698	missense	probably damaging	1.00
R8989:Col13a1	UTSW	10	61860471	missense	unknown
R9181:Col13a1	UTSW	10	61867833	missense	possibly damaging	0.66
R9183:Col13a1	UTSW	10	61863979	missense	unknown
R9215:Col13a1	UTSW	10	61850211	critical splice acceptor site	probably null
R9307:Col13a1	UTSW	10	61867469	missense	unknown
Z1177:Col13a1	UTSW	10	61905262	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTCCAGACATGTGGTTAC -3'
(R):5'- AGATGGCTGTACTGGAGAGC -3'

Sequencing Primer
(F):5'- TGATGAGCACCTGTCCCCTG -3'
(R):5'- GCTGTACTGGAGAGCCAAAAG -3'

Posted On

2015-10-21