Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01966:Col14a1'

181551

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 #

IGL01966

Quality Score

Status

Chromosome

Chromosomal Location

55171146-55384199 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 55312121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q80X19

Predicted Effect

probably benign
Transcript: ENSMUST00000023053

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371

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

probably benign
Transcript: ENSMUST00000110217

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371

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

probably benign
Transcript: ENSMUST00000110221

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371

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

probably benign
Transcript: ENSMUST00000125416

SMART Domains

Protein: ENSMUSP00000122455
Gene: ENSMUSG00000022371

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	A	G	4: 155,818,526 (GRCm39)		probably null	Het
Acer2	T	A	4: 86,835,815 (GRCm39)	*230R	probably null	Het
Adamts12	A	G	15: 11,258,269 (GRCm39)	K527E	probably damaging	Het
Anks1b	C	A	10: 90,730,994 (GRCm39)	R937S	probably damaging	Het
C2cd5	G	T	6: 142,957,767 (GRCm39)	C989*	probably null	Het
Calhm5	T	C	10: 33,972,129 (GRCm39)	H102R	probably benign	Het
Cramp1	T	A	17: 25,201,917 (GRCm39)	T522S	probably benign	Het
Cyp2c70	A	T	19: 40,142,016 (GRCm39)		probably benign	Het
Elmod1	T	A	9: 53,828,611 (GRCm39)	I224F	probably benign	Het
Emx2	T	A	19: 59,448,021 (GRCm39)	I24N	possibly damaging	Het
Fga	A	T	3: 82,936,461 (GRCm39)	I86F	probably damaging	Het
Fig4	C	A	10: 41,108,098 (GRCm39)		probably null	Het
Gm10234	T	C	6: 95,299,118 (GRCm39)		probably null	Het
Gm12588	A	T	11: 121,797,561 (GRCm39)	I96N	probably benign	Het
Grm3	A	G	5: 9,561,486 (GRCm39)	I788T	probably damaging	Het
Homer3	A	G	8: 70,742,807 (GRCm39)	K173E	probably damaging	Het
Kansl1l	A	G	1: 66,777,227 (GRCm39)	V635A	probably damaging	Het
Kctd3	C	T	1: 188,724,859 (GRCm39)	G241R	probably damaging	Het
Krt8	G	T	15: 101,906,105 (GRCm39)	S423R	probably benign	Het
Lrrc24	C	A	15: 76,602,511 (GRCm39)	A125S	probably benign	Het
Muc4	T	C	16: 32,570,244 (GRCm39)	S435P	possibly damaging	Het
Nfkb2	G	A	19: 46,298,129 (GRCm39)	G502D	probably benign	Het
Nlrp6	G	A	7: 140,505,103 (GRCm39)	C750Y	probably damaging	Het
Or8b1b	A	T	9: 38,376,225 (GRCm39)	D296V	possibly damaging	Het
Oxsm	T	C	14: 16,242,520 (GRCm38)	N83S	probably benign	Het
Paqr3	A	G	5: 97,247,502 (GRCm39)	L202P	probably benign	Het
Pcdh10	T	A	3: 45,334,733 (GRCm39)	L349Q	probably benign	Het
Ptdss2	A	G	7: 140,715,304 (GRCm39)	T29A	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,782 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,272,789 (GRCm39)		probably benign	Het
Ric1	A	T	19: 29,572,963 (GRCm39)	Y801F	probably benign	Het
Sgcz	A	T	8: 38,107,169 (GRCm39)	S114R	probably damaging	Het
Tenm4	A	G	7: 96,202,757 (GRCm39)	D124G	probably damaging	Het
Zscan22	T	G	7: 12,640,398 (GRCm39)	M214R	probably benign	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
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
IGL02326:Col14a1	APN	15	55,282,193 (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

2014-05-07