Mutagenetix > Incidental Mutation

Incidental Mutation 'R0745:Col14a1'

70934

Institutional Source

Beutler Lab

Gene Symbol

Col14a1

Ensembl Gene

ENSMUSG00000022371

Gene Name

collagen, type XIV, alpha 1

Synonyms

5730412L22Rik

MMRRC Submission

038926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55307750-55520803 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55338417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 34 (T34S)

Ref Sequence

ENSEMBL: ENSMUSP00000105850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023053] [ENSMUST00000110217] [ENSMUST00000110221]

AlphaFold

Q80X19

Predicted Effect

unknown
Transcript: ENSMUST00000023053
AA Change: T34S

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: T34S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
FN3	30	108	5.4e-7	SMART
low complexity region	122	136	N/A	INTRINSIC
VWA	157	336	9.5e-56	SMART
FN3	354	434	3.82e-7	SMART
FN3	444	522	3.1e-7	SMART
FN3	536	613	5.07e-12	SMART
FN3	625	704	3.1e-7	SMART
FN3	736	818	6.2e-7	SMART
FN3	830	909	1.45e-7	SMART
FN3	920	999	3.59e0	SMART
low complexity region	1010	1022	N/A	INTRINSIC
VWA	1031	1211	2.02e-59	SMART
TSPN	1230	1425	1.19e-66	SMART
Pfam:Collagen	1461	1515	2.9e-8	PFAM
Pfam:Collagen	1513	1571	6.3e-9	PFAM
Pfam:Collagen	1555	1615	8.5e-10	PFAM
Pfam:Collagen	1653	1709	7.6e-10	PFAM
Pfam:Collagen	1707	1762	2.6e-7	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000110217
AA Change: T34S

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: T34S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
FN3	30	108	5.4e-7	SMART
low complexity region	122	136	N/A	INTRINSIC
VWA	157	336	9.5e-56	SMART
FN3	354	434	3.82e-7	SMART
FN3	444	522	3.1e-7	SMART
FN3	536	613	5.07e-12	SMART
FN3	625	704	3.1e-7	SMART
FN3	736	819	5.4e-7	SMART
FN3	831	910	1.45e-7	SMART
FN3	921	1000	3.59e0	SMART
low complexity region	1011	1023	N/A	INTRINSIC
VWA	1032	1212	2.02e-59	SMART
TSPN	1231	1426	1.19e-66	SMART
Pfam:Collagen	1462	1516	2.5e-8	PFAM
Pfam:Collagen	1514	1572	5.4e-9	PFAM
Pfam:Collagen	1556	1616	7.3e-10	PFAM
Pfam:Collagen	1654	1710	6.5e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000110221
AA Change: T34S

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: T34S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
FN3	30	108	5.4e-7	SMART
low complexity region	122	136	N/A	INTRINSIC
VWA	157	336	9.5e-56	SMART
FN3	354	434	3.82e-7	SMART
FN3	444	522	3.1e-7	SMART
FN3	536	613	5.07e-12	SMART
FN3	625	704	3.1e-7	SMART
FN3	736	815	7.12e-7	SMART
FN3	827	906	1.45e-7	SMART
FN3	917	996	3.59e0	SMART
low complexity region	1007	1019	N/A	INTRINSIC
VWA	1028	1208	2.02e-59	SMART
TSPN	1227	1422	1.19e-66	SMART
Pfam:Collagen	1458	1512	8.2e-9	PFAM
Pfam:Collagen	1510	1568	1.8e-9	PFAM
Pfam:Collagen	1552	1612	2.4e-10	PFAM
Pfam:Collagen	1650	1706	2.2e-10	PFAM
Pfam:Collagen	1704	1759	7.5e-8	PFAM

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.0%

Validation Efficiency

100% (40/40)

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 type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,928,463	Y759C	probably damaging	Het
Abhd12	A	T	2: 150,833,148		probably null	Het
Adam17	A	G	12: 21,332,221		probably benign	Het
Aldh1l2	T	A	10: 83,518,630		probably null	Het
Brca2	A	T	5: 150,544,882		probably benign	Het
Capn13	A	C	17: 73,351,508	D188E	probably benign	Het
Col5a2	A	G	1: 45,407,227		probably null	Het
Cyp4v3	A	G	8: 45,308,651		probably benign	Het
Dlat	G	A	9: 50,653,708	T233M	probably damaging	Het
Eef2	C	T	10: 81,181,996	P831S	probably benign	Het
Endod1	A	T	9: 14,357,117	N357K	possibly damaging	Het
Evc	A	T	5: 37,319,059	V205E	probably damaging	Het
Fryl	A	G	5: 73,071,126	L1754P	probably damaging	Het
Gabra6	A	T	11: 42,316,567	M230K	probably damaging	Het
Hsd3b5	A	G	3: 98,619,539	V197A	probably benign	Het
Kmt2c	A	T	5: 25,359,698		probably null	Het
Mthfsd	A	T	8: 121,102,949	L116Q	probably damaging	Het
Mug1	A	G	6: 121,887,427	T1428A	probably benign	Het
Obscn	A	G	11: 59,082,239	V2312A	probably benign	Het
Olfr1357	T	C	10: 78,612,122	E173G	probably benign	Het
Palld	G	A	8: 61,877,703	R47C	probably damaging	Het
Pds5b	A	G	5: 150,805,671	T1424A	probably benign	Het
Ppp6r2	G	A	15: 89,265,242		probably null	Het
Sik3	A	G	9: 46,198,239	N505S	probably benign	Het
Spin1	A	G	13: 51,139,515	Y87C	probably damaging	Het
Tcp11	T	C	17: 28,067,160	I494V	possibly damaging	Het
Tgfa	G	A	6: 86,271,435	E140K	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trmo	A	G	4: 46,382,104	F338L	probably damaging	Het
Tspan17	T	C	13: 54,789,674	V27A	possibly damaging	Het
Uba5	A	G	9: 104,049,511		probably benign	Het
Unc5a	CTGTGTGTGTGTGTGT	CTGTGTGTGTGTGT	13: 55,005,255		probably null	Het
Zbbx	C	T	3: 75,155,427	V8I	probably damaging	Het
Zcchc11	C	G	4: 108,502,955		probably benign	Het
Zfp451	A	T	1: 33,770,848	L931*	probably null	Het
Zmym4	A	T	4: 126,902,703		probably benign	Het

Other mutations in Col14a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Col14a1	APN	15	55411585	missense	unknown
IGL01290:Col14a1	APN	15	55423507	missense	unknown
IGL01300:Col14a1	APN	15	55467976	missense	unknown
IGL01505:Col14a1	APN	15	55455223	missense	unknown
IGL01533:Col14a1	APN	15	55420840	missense	unknown
IGL01563:Col14a1	APN	15	55487941	missense	unknown
IGL01650:Col14a1	APN	15	55406693	missense	unknown
IGL01659:Col14a1	APN	15	55446172	unclassified	probably benign
IGL01670:Col14a1	APN	15	55329266	missense	unknown
IGL01760:Col14a1	APN	15	55423459	missense	unknown
IGL01803:Col14a1	APN	15	55418814	missense	unknown
IGL01966:Col14a1	APN	15	55448725	unclassified	probably benign
IGL01990:Col14a1	APN	15	55363463	missense	unknown
IGL02124:Col14a1	APN	15	55463703	missense	unknown
IGL02138:Col14a1	APN	15	55420835	missense	unknown
IGL02192:Col14a1	APN	15	55362402	missense	unknown
IGL02326:Col14a1	APN	15	55418797	missense	unknown
IGL02335:Col14a1	APN	15	55463769	splice site	probably benign
IGL02407:Col14a1	APN	15	55448876	splice site	probably benign
IGL02486:Col14a1	APN	15	55388696	splice site	probably benign
IGL02537:Col14a1	APN	15	55344914	nonsense	probably null
IGL02567:Col14a1	APN	15	55344961	critical splice donor site	probably null
IGL02643:Col14a1	APN	15	55420862	missense	unknown
IGL02669:Col14a1	APN	15	55418782	missense	unknown
IGL02673:Col14a1	APN	15	55418782	missense	unknown
IGL02674:Col14a1	APN	15	55418782	missense	unknown
IGL03201:Col14a1	APN	15	55408904	missense	unknown
IGL03334:Col14a1	APN	15	55448821	unclassified	probably benign
IGL03370:Col14a1	APN	15	55488541	splice site	probably null
IGL03385:Col14a1	APN	15	55410204	missense	unknown
IGL03385:Col14a1	APN	15	55471708	missense	unknown
PIT4131001:Col14a1	UTSW	15	55448876	splice site	probably benign
R0046:Col14a1	UTSW	15	55408963	splice site	probably benign
R0046:Col14a1	UTSW	15	55408963	splice site	probably benign
R0173:Col14a1	UTSW	15	55488532	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55497511	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55497511	missense	probably damaging	1.00
R0359:Col14a1	UTSW	15	55407868	splice site	probably benign
R0391:Col14a1	UTSW	15	55446259	unclassified	probably benign
R0468:Col14a1	UTSW	15	55388646	missense	unknown
R0652:Col14a1	UTSW	15	55344882	missense	unknown
R0692:Col14a1	UTSW	15	55341738	missense	unknown
R1006:Col14a1	UTSW	15	55519935	missense	probably benign	0.04
R1331:Col14a1	UTSW	15	55410188	missense	unknown
R1537:Col14a1	UTSW	15	55380767	missense	unknown
R1557:Col14a1	UTSW	15	55388579	missense	unknown
R1721:Col14a1	UTSW	15	55447462	unclassified	probably benign
R1737:Col14a1	UTSW	15	55344961	critical splice donor site	probably benign
R1837:Col14a1	UTSW	15	55382495	missense	unknown
R1867:Col14a1	UTSW	15	55447462	unclassified	probably benign
R1868:Col14a1	UTSW	15	55447462	unclassified	probably benign
R1991:Col14a1	UTSW	15	55449940	missense	unknown
R2020:Col14a1	UTSW	15	55446181	unclassified	probably benign
R2103:Col14a1	UTSW	15	55449940	missense	unknown
R2116:Col14a1	UTSW	15	55407764	missense	unknown
R2163:Col14a1	UTSW	15	55444645	unclassified	probably benign
R2207:Col14a1	UTSW	15	55463686	missense	unknown
R2215:Col14a1	UTSW	15	55380842	missense	unknown
R2264:Col14a1	UTSW	15	55466690	splice site	probably null
R2383:Col14a1	UTSW	15	55447517	unclassified	probably benign
R2397:Col14a1	UTSW	15	55338439	missense	unknown
R2422:Col14a1	UTSW	15	55449922	missense	unknown
R3793:Col14a1	UTSW	15	55363513	missense	unknown
R4082:Col14a1	UTSW	15	55437033	missense	unknown
R4112:Col14a1	UTSW	15	55363559	missense	unknown
R4519:Col14a1	UTSW	15	55388579	missense	unknown
R4628:Col14a1	UTSW	15	55449833	nonsense	probably null
R4692:Col14a1	UTSW	15	55423468	missense	unknown
R4696:Col14a1	UTSW	15	55372602	missense	unknown
R4749:Col14a1	UTSW	15	55452336	missense	unknown
R5324:Col14a1	UTSW	15	55338445	missense	unknown
R5382:Col14a1	UTSW	15	55362436	missense	unknown
R5634:Col14a1	UTSW	15	55518298	missense	probably damaging	1.00
R5781:Col14a1	UTSW	15	55423512	missense	unknown
R5828:Col14a1	UTSW	15	55436976	missense	unknown
R5873:Col14a1	UTSW	15	55445786	unclassified	probably benign
R5966:Col14a1	UTSW	15	55452383	critical splice donor site	probably null
R6106:Col14a1	UTSW	15	55520008	missense	probably damaging	1.00
R6135:Col14a1	UTSW	15	55380850	missense	unknown
R6319:Col14a1	UTSW	15	55516169	missense	probably damaging	0.99
R6475:Col14a1	UTSW	15	55445822	unclassified	probably benign
R6540:Col14a1	UTSW	15	55372581	missense	unknown
R6893:Col14a1	UTSW	15	55444648	unclassified	probably benign
R6992:Col14a1	UTSW	15	55411562	splice site	probably null
R7284:Col14a1	UTSW	15	55518319	missense	probably damaging	1.00
R7404:Col14a1	UTSW	15	55388628	nonsense	probably null
R7655:Col14a1	UTSW	15	55362450	missense	unknown
R7656:Col14a1	UTSW	15	55362450	missense	unknown
R7715:Col14a1	UTSW	15	55487983	missense	unknown
R7841:Col14a1	UTSW	15	55382480	missense	unknown
R7861:Col14a1	UTSW	15	55444616	missense	unknown
R7866:Col14a1	UTSW	15	55388620	missense	unknown
R7902:Col14a1	UTSW	15	55501436	missense	probably benign	0.16
R8041:Col14a1	UTSW	15	55455230	missense	unknown
R8159:Col14a1	UTSW	15	55427928	missense	unknown
R8224:Col14a1	UTSW	15	55407741	missense	unknown
R8282:Col14a1	UTSW	15	55420880	missense	unknown
R8729:Col14a1	UTSW	15	55447497	nonsense	probably null
R8737:Col14a1	UTSW	15	55455310	nonsense	probably null
R8871:Col14a1	UTSW	15	55382562	missense	unknown
R9069:Col14a1	UTSW	15	55388594	missense	unknown
R9081:Col14a1	UTSW	15	55427991	missense	unknown
R9088:Col14a1	UTSW	15	55363527	missense	unknown
R9113:Col14a1	UTSW	15	55338429	missense	unknown
R9193:Col14a1	UTSW	15	55379568	missense	unknown
R9274:Col14a1	UTSW	15	55518275	missense	probably damaging	0.99
R9288:Col14a1	UTSW	15	55423522	missense	unknown
R9320:Col14a1	UTSW	15	55501384	missense	probably benign	0.16
R9602:Col14a1	UTSW	15	55487949	missense	unknown
R9620:Col14a1	UTSW	15	55362385	missense	unknown
R9629:Col14a1	UTSW	15	55519149	missense
X0023:Col14a1	UTSW	15	55423447	missense	unknown
X0063:Col14a1	UTSW	15	55410215	missense	unknown
Z1177:Col14a1	UTSW	15	55372570	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGAAGCATAAGCGTTCACATCTGTC -3'
(R):5'- AGACCCAGACCTTATACTTTGGGGAG -3'

Sequencing Primer
(F):5'- AAGCGTTCACATCTGTCTTATTTTG -3'
(R):5'- AATCAAGTCTTTCGCTGTGCAAC -3'

Posted On

2013-09-30