Mutagenetix > Incidental Mutations

Incidental Mutation 'R7715:Col14a1'

594880

Institutional Source

Beutler Lab

Gene Symbol

Col14a1

Ensembl Gene

ENSMUSG00000022371

Gene Name

collagen, type XIV, alpha 1

Synonyms

5730412L22Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55307750-55520803 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55487983 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1569 (I1569V)

Ref Sequence

ENSEMBL: ENSMUSP00000105850 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000023053
AA Change: I1572V

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: I1572V

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: I1573V

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: I1573V

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: I1569V

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: I1569V

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122455
Gene: ENSMUSG00000022371
AA Change: I311V

Domain	Start	End	E-Value	Type
TSPN	2	165	2.04e-42	SMART
Pfam:Collagen	201	255	2.1e-9	PFAM
Pfam:Collagen	253	305	3.3e-9	PFAM
Pfam:Collagen	295	355	4.4e-11	PFAM
Pfam:Collagen	393	448	5.7e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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 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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,182,500	F57L	probably benign	Het
Agl	C	T	3: 116,758,256	R563Q		Het
Ahctf1	A	G	1: 179,770,848	M919T	probably benign	Het
Ano4	A	T	10: 88,995,311	N483K	probably damaging	Het
Armt1	A	G	10: 4,450,751	K166R	probably benign	Het
Asgr2	T	C	11: 70,096,895	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,714,198	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,639,796	T150A	possibly damaging	Het
Bach1	A	G	16: 87,719,971	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,512,973	K395E	probably benign	Het
C330027C09Rik	A	T	16: 49,013,984	Q643L	probably damaging	Het
Cadps	G	A	14: 12,457,762	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036		probably null	Het
Canx	A	G	11: 50,310,804	S80P	probably benign	Het
Ccdc149	T	A	5: 52,404,191		probably null	Het
Cd34	A	T	1: 194,949,316	N87Y	probably damaging	Het
Cdh11	T	A	8: 102,664,714	I297F	possibly damaging	Het
Cxcr4	C	T	1: 128,589,742	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,372,605	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,681,695	Y79C	probably benign	Het
Daam1	A	G	12: 71,988,901	K957E	probably benign	Het
Dip2c	A	G	13: 9,614,391	K947E	probably damaging	Het
Efcab12	T	C	6: 115,823,543	K173R	possibly damaging	Het
Emc1	C	T	4: 139,371,623	R806C	probably damaging	Het
Epg5	G	A	18: 77,968,586	R816Q	probably damaging	Het
Faf1	G	T	4: 109,710,814	D24Y	probably damaging	Het
Foxp1	T	C	6: 98,945,660	T404A	unknown	Het
Fra10ac1	T	C	19: 38,189,838	E299G	probably damaging	Het
Gon4l	A	G	3: 88,908,006	T1959A	probably benign	Het
Gpam	A	C	19: 55,088,921	V146G	probably benign	Het
Hephl1	T	A	9: 15,060,785	D953V	probably benign	Het
Kcnc2	G	T	10: 112,271,940	E79*	probably null	Het
Kcnj12	T	A	11: 61,066,952		probably null	Het
Llgl2	A	T	11: 115,849,728	T417S	probably benign	Het
Lrrc17	A	T	5: 21,561,080	N187Y	probably damaging	Het
Macc1	C	T	12: 119,446,256	A253V	possibly damaging	Het
Mark1	A	G	1: 184,907,234	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,557,550	L409P	probably damaging	Het
Nek1	A	G	8: 61,006,760	E34G	probably damaging	Het
Obsl1	A	T	1: 75,502,036	V686D	probably damaging	Het
Olfr1537	A	T	9: 39,237,878	L182H	probably damaging	Het
Olfr167	C	T	16: 19,514,730	R302K	probably benign	Het
Olfr545	T	A	7: 102,494,461	M105L	possibly damaging	Het
Olfr871	G	A	9: 20,212,435	G29R	probably damaging	Het
Olfr871	G	A	9: 20,212,436	G29E	probably benign	Het
Olfr893	T	A	9: 38,209,479	M140K	probably benign	Het
Ostm1	G	A	10: 42,683,187	G148R	probably benign	Het
Oxsr1	A	G	9: 119,242,756	S470P	probably damaging	Het
Pacs1	C	T	19: 5,141,681	M709I	probably benign	Het
Pan2	A	G	10: 128,317,723	M963V	probably benign	Het
Pds5a	A	G	5: 65,638,561	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,912		probably benign	Het
Sh2b2	T	C	5: 136,219,035	N554S	probably benign	Het
Slc24a4	A	G	12: 102,218,960	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,844,628	S218P	possibly damaging	Het
Spast	T	A	17: 74,368,926	N321K	probably benign	Het
Srcap	T	G	7: 127,549,288	I1936S	probably damaging	Het
Themis	G	A	10: 28,863,309	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,361,414	T296I	possibly damaging	Het
Ttk	A	G	9: 83,865,153	T682A	probably benign	Het
Virma	C	T	4: 11,549,682	R1807W	probably damaging	Het
Vmn2r101	T	A	17: 19,611,915	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,047,441	V673A	probably damaging	Het
Wbp4	C	T	14: 79,466,294	S271N	probably benign	Het
Wdr66	A	G	5: 123,262,134	N439D	probably damaging	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
R0745:Col14a1	UTSW	15	55338417	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
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
R7924:Col14a1	UTSW	15	55382480	missense	unknown
R7944:Col14a1	UTSW	15	55444616	missense	unknown
R7949:Col14a1	UTSW	15	55388620	missense	unknown
R7985:Col14a1	UTSW	15	55501436	missense	probably benign	0.16
R8041:Col14a1	UTSW	15	55455230	missense	unknown
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'- GGAGTTCAACAACAGCATGCC -3'
(R):5'- TGGTCAGGTAAGGTTCTATGAATTCC -3'

Sequencing Primer
(F):5'- AACAGCATGCCCTCGGTAGTC -3'
(R):5'- GGTAAGGTTCTATGAATTCCAAGTC -3'

Posted On

2019-11-12