Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02326:Col14a1'

288469

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col14a1

Ensembl Gene

ENSMUSG00000022371

Gene Name

collagen, type XIV, alpha 1

Synonyms

5730412L22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

55171146-55384199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55282193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 818 (V818A)

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: V821A

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: V821A

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: V822A

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: V822A

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: V818A

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: V818A

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,465,051 (GRCm39)	V29A	unknown	Het
Abcc8	C	A	7: 45,772,281 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,705,514 (GRCm39)	I614N	probably damaging	Het
Ash1l	G	A	3: 88,873,364 (GRCm39)	R49H	probably benign	Het
Atp8b1	T	C	18: 64,671,654 (GRCm39)	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317 (GRCm39)	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,062,770 (GRCm39)	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,902,764 (GRCm39)	L485P	probably damaging	Het
Cobl	A	T	11: 12,336,712 (GRCm39)	N25K	possibly damaging	Het
Csmd3	G	A	15: 47,619,359 (GRCm39)		probably benign	Het
Dpp6	A	G	5: 27,869,755 (GRCm39)	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,692,395 (GRCm39)	R96C	probably damaging	Het
Fam53a	T	C	5: 33,757,938 (GRCm39)	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,858,190 (GRCm39)	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,340,964 (GRCm39)	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,231,052 (GRCm39)	T430I	unknown	Het
Ighv1-53	T	A	12: 115,122,235 (GRCm39)	T47S	probably benign	Het
Ilk	C	A	7: 105,390,840 (GRCm39)	P261Q	probably damaging	Het
Ints10	T	G	8: 69,257,485 (GRCm39)	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,472,816 (GRCm39)	S782R	probably benign	Het
Map3k4	A	G	17: 12,467,897 (GRCm39)	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113 (GRCm39)	P374S	probably benign	Het
Or52e18	T	A	7: 104,609,853 (GRCm39)	I29F	probably benign	Het
Or5b108	C	A	19: 13,168,779 (GRCm39)	Y249*	probably null	Het
Or5j1	G	A	2: 86,879,355 (GRCm39)	S75L	possibly damaging	Het
Or5w19	T	A	2: 87,699,019 (GRCm39)	I228N	probably damaging	Het
Pkd2	T	C	5: 104,624,941 (GRCm39)	Y246H	probably benign	Het
Plekha5	G	T	6: 140,529,576 (GRCm39)	G340*	probably null	Het
Plxna4	T	A	6: 32,129,840 (GRCm39)	M1828L	probably damaging	Het
Prex1	A	G	2: 166,463,105 (GRCm39)	I252T	probably benign	Het
Pura	A	G	18: 36,420,831 (GRCm39)	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713 (GRCm39)	F782I	probably damaging	Het
Rbp4	T	C	19: 38,112,563 (GRCm39)	D90G	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Scn7a	C	A	2: 66,530,392 (GRCm39)	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,639,163 (GRCm39)		probably null	Het
Slc43a1	T	G	2: 84,680,115 (GRCm39)	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,078,099 (GRCm39)	T300A	probably benign	Het
Srgap2	T	A	1: 131,284,645 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,294,182 (GRCm39)	V531M	probably damaging	Het
Twsg1	T	C	17: 66,233,431 (GRCm39)	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,388,861 (GRCm39)	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,571,592 (GRCm39)	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,235,255 (GRCm39)	I41T	probably benign	Het
Vwa5a	A	T	9: 38,649,252 (GRCm39)	T667S	probably benign	Het
Xrn2	A	G	2: 146,889,633 (GRCm39)	E672G	probably benign	Het
Zfp235	T	A	7: 23,834,727 (GRCm39)	M1K	probably null	Het
Zmym1	T	C	4: 126,941,553 (GRCm39)	E847G	probably damaging	Het

Other mutations in Col14a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Col14a1	APN	15	55,274,981 (GRCm39)	missense	unknown
IGL01290:Col14a1	APN	15	55,286,903 (GRCm39)	missense	unknown
IGL01300:Col14a1	APN	15	55,331,372 (GRCm39)	missense	unknown
IGL01505:Col14a1	APN	15	55,318,619 (GRCm39)	missense	unknown
IGL01533:Col14a1	APN	15	55,284,236 (GRCm39)	missense	unknown
IGL01563:Col14a1	APN	15	55,351,337 (GRCm39)	missense	unknown
IGL01650:Col14a1	APN	15	55,270,089 (GRCm39)	missense	unknown
IGL01659:Col14a1	APN	15	55,309,568 (GRCm39)	unclassified	probably benign
IGL01670:Col14a1	APN	15	55,192,662 (GRCm39)	missense	unknown
IGL01760:Col14a1	APN	15	55,286,855 (GRCm39)	missense	unknown
IGL01803:Col14a1	APN	15	55,282,210 (GRCm39)	missense	unknown
IGL01966:Col14a1	APN	15	55,312,121 (GRCm39)	unclassified	probably benign
IGL01990:Col14a1	APN	15	55,226,859 (GRCm39)	missense	unknown
IGL02124:Col14a1	APN	15	55,327,099 (GRCm39)	missense	unknown
IGL02138:Col14a1	APN	15	55,284,231 (GRCm39)	missense	unknown
IGL02192:Col14a1	APN	15	55,225,798 (GRCm39)	missense	unknown
IGL02335:Col14a1	APN	15	55,327,165 (GRCm39)	splice site	probably benign
IGL02407:Col14a1	APN	15	55,312,272 (GRCm39)	splice site	probably benign
IGL02486:Col14a1	APN	15	55,252,092 (GRCm39)	splice site	probably benign
IGL02537:Col14a1	APN	15	55,208,310 (GRCm39)	nonsense	probably null
IGL02567:Col14a1	APN	15	55,208,357 (GRCm39)	critical splice donor site	probably null
IGL02643:Col14a1	APN	15	55,284,258 (GRCm39)	missense	unknown
IGL02669:Col14a1	APN	15	55,282,178 (GRCm39)	missense	unknown
IGL02673:Col14a1	APN	15	55,282,178 (GRCm39)	missense	unknown
IGL02674:Col14a1	APN	15	55,282,178 (GRCm39)	missense	unknown
IGL03201:Col14a1	APN	15	55,272,300 (GRCm39)	missense	unknown
IGL03334:Col14a1	APN	15	55,312,217 (GRCm39)	unclassified	probably benign
IGL03370:Col14a1	APN	15	55,351,937 (GRCm39)	splice site	probably null
IGL03385:Col14a1	APN	15	55,335,104 (GRCm39)	missense	unknown
IGL03385:Col14a1	APN	15	55,273,600 (GRCm39)	missense	unknown
PIT4131001:Col14a1	UTSW	15	55,312,272 (GRCm39)	splice site	probably benign
R0046:Col14a1	UTSW	15	55,272,359 (GRCm39)	splice site	probably benign
R0046:Col14a1	UTSW	15	55,272,359 (GRCm39)	splice site	probably benign
R0173:Col14a1	UTSW	15	55,351,928 (GRCm39)	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55,360,907 (GRCm39)	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55,360,907 (GRCm39)	missense	probably damaging	1.00
R0359:Col14a1	UTSW	15	55,271,264 (GRCm39)	splice site	probably benign
R0391:Col14a1	UTSW	15	55,309,655 (GRCm39)	unclassified	probably benign
R0468:Col14a1	UTSW	15	55,252,042 (GRCm39)	missense	unknown
R0652:Col14a1	UTSW	15	55,208,278 (GRCm39)	missense	unknown
R0692:Col14a1	UTSW	15	55,205,134 (GRCm39)	missense	unknown
R0745:Col14a1	UTSW	15	55,201,813 (GRCm39)	missense	unknown
R1006:Col14a1	UTSW	15	55,383,331 (GRCm39)	missense	probably benign	0.04
R1331:Col14a1	UTSW	15	55,273,584 (GRCm39)	missense	unknown
R1537:Col14a1	UTSW	15	55,244,163 (GRCm39)	missense	unknown
R1557:Col14a1	UTSW	15	55,251,975 (GRCm39)	missense	unknown
R1721:Col14a1	UTSW	15	55,310,858 (GRCm39)	unclassified	probably benign
R1737:Col14a1	UTSW	15	55,208,357 (GRCm39)	critical splice donor site	probably benign
R1837:Col14a1	UTSW	15	55,245,891 (GRCm39)	missense	unknown
R1867:Col14a1	UTSW	15	55,310,858 (GRCm39)	unclassified	probably benign
R1868:Col14a1	UTSW	15	55,310,858 (GRCm39)	unclassified	probably benign
R1991:Col14a1	UTSW	15	55,313,336 (GRCm39)	missense	unknown
R2020:Col14a1	UTSW	15	55,309,577 (GRCm39)	unclassified	probably benign
R2103:Col14a1	UTSW	15	55,313,336 (GRCm39)	missense	unknown
R2116:Col14a1	UTSW	15	55,271,160 (GRCm39)	missense	unknown
R2163:Col14a1	UTSW	15	55,308,041 (GRCm39)	unclassified	probably benign
R2207:Col14a1	UTSW	15	55,327,082 (GRCm39)	missense	unknown
R2215:Col14a1	UTSW	15	55,244,238 (GRCm39)	missense	unknown
R2264:Col14a1	UTSW	15	55,330,086 (GRCm39)	splice site	probably null
R2383:Col14a1	UTSW	15	55,310,913 (GRCm39)	unclassified	probably benign
R2397:Col14a1	UTSW	15	55,201,835 (GRCm39)	missense	unknown
R2422:Col14a1	UTSW	15	55,313,318 (GRCm39)	missense	unknown
R3793:Col14a1	UTSW	15	55,226,909 (GRCm39)	missense	unknown
R4082:Col14a1	UTSW	15	55,300,429 (GRCm39)	missense	unknown
R4112:Col14a1	UTSW	15	55,226,955 (GRCm39)	missense	unknown
R4519:Col14a1	UTSW	15	55,251,975 (GRCm39)	missense	unknown
R4628:Col14a1	UTSW	15	55,313,229 (GRCm39)	nonsense	probably null
R4692:Col14a1	UTSW	15	55,286,864 (GRCm39)	missense	unknown
R4696:Col14a1	UTSW	15	55,235,998 (GRCm39)	missense	unknown
R4749:Col14a1	UTSW	15	55,315,732 (GRCm39)	missense	unknown
R5324:Col14a1	UTSW	15	55,201,841 (GRCm39)	missense	unknown
R5382:Col14a1	UTSW	15	55,225,832 (GRCm39)	missense	unknown
R5634:Col14a1	UTSW	15	55,381,694 (GRCm39)	missense	probably damaging	1.00
R5781:Col14a1	UTSW	15	55,286,908 (GRCm39)	missense	unknown
R5828:Col14a1	UTSW	15	55,300,372 (GRCm39)	missense	unknown
R5873:Col14a1	UTSW	15	55,309,182 (GRCm39)	unclassified	probably benign
R5966:Col14a1	UTSW	15	55,315,779 (GRCm39)	critical splice donor site	probably null
R6106:Col14a1	UTSW	15	55,383,404 (GRCm39)	missense	probably damaging	1.00
R6135:Col14a1	UTSW	15	55,244,246 (GRCm39)	missense	unknown
R6319:Col14a1	UTSW	15	55,379,565 (GRCm39)	missense	probably damaging	0.99
R6475:Col14a1	UTSW	15	55,309,218 (GRCm39)	unclassified	probably benign
R6540:Col14a1	UTSW	15	55,235,977 (GRCm39)	missense	unknown
R6893:Col14a1	UTSW	15	55,308,044 (GRCm39)	unclassified	probably benign
R6992:Col14a1	UTSW	15	55,274,958 (GRCm39)	splice site	probably null
R7284:Col14a1	UTSW	15	55,381,715 (GRCm39)	missense	probably damaging	1.00
R7404:Col14a1	UTSW	15	55,252,024 (GRCm39)	nonsense	probably null
R7655:Col14a1	UTSW	15	55,225,846 (GRCm39)	missense	unknown
R7656:Col14a1	UTSW	15	55,225,846 (GRCm39)	missense	unknown
R7715:Col14a1	UTSW	15	55,351,379 (GRCm39)	missense	unknown
R7841:Col14a1	UTSW	15	55,245,876 (GRCm39)	missense	unknown
R7861:Col14a1	UTSW	15	55,308,012 (GRCm39)	missense	unknown
R7866:Col14a1	UTSW	15	55,252,016 (GRCm39)	missense	unknown
R7902:Col14a1	UTSW	15	55,364,832 (GRCm39)	missense	probably benign	0.16
R8041:Col14a1	UTSW	15	55,318,626 (GRCm39)	missense	unknown
R8159:Col14a1	UTSW	15	55,291,324 (GRCm39)	missense	unknown
R8224:Col14a1	UTSW	15	55,271,137 (GRCm39)	missense	unknown
R8282:Col14a1	UTSW	15	55,284,276 (GRCm39)	missense	unknown
R8729:Col14a1	UTSW	15	55,310,893 (GRCm39)	nonsense	probably null
R8737:Col14a1	UTSW	15	55,318,706 (GRCm39)	nonsense	probably null
R8871:Col14a1	UTSW	15	55,245,958 (GRCm39)	missense	unknown
R9069:Col14a1	UTSW	15	55,251,990 (GRCm39)	missense	unknown
R9081:Col14a1	UTSW	15	55,291,387 (GRCm39)	missense	unknown
R9088:Col14a1	UTSW	15	55,226,923 (GRCm39)	missense	unknown
R9113:Col14a1	UTSW	15	55,201,825 (GRCm39)	missense	unknown
R9193:Col14a1	UTSW	15	55,242,964 (GRCm39)	missense	unknown
R9274:Col14a1	UTSW	15	55,381,671 (GRCm39)	missense	probably damaging	0.99
R9288:Col14a1	UTSW	15	55,286,918 (GRCm39)	missense	unknown
R9320:Col14a1	UTSW	15	55,364,780 (GRCm39)	missense	probably benign	0.16
R9602:Col14a1	UTSW	15	55,351,345 (GRCm39)	missense	unknown
R9620:Col14a1	UTSW	15	55,225,781 (GRCm39)	missense	unknown
R9629:Col14a1	UTSW	15	55,382,545 (GRCm39)	missense
X0023:Col14a1	UTSW	15	55,286,843 (GRCm39)	missense	unknown
X0063:Col14a1	UTSW	15	55,273,611 (GRCm39)	missense	unknown
Z1177:Col14a1	UTSW	15	55,235,966 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16