Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Col14a1'

289711

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 #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

55307750-55520803 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 55463769 bp (GRCm38)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	T	7: 140,296,540 (GRCm38)	N526Y	probably damaging	Het
A4gnt	C	T	9: 99,620,213 (GRCm38)	T142I	probably benign	Het
Acaca	A	G	11: 84,214,258 (GRCm38)	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750 (GRCm38)	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638 (GRCm38)	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929 (GRCm38)	T94A	possibly damaging	Het
Cd22	A	G	7: 30,876,134 (GRCm38)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847 (GRCm38)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm38)	N110K	possibly damaging	Het
Col6a6	C	T	9: 105,784,101 (GRCm38)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077 (GRCm38)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845 (GRCm38)	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834 (GRCm38)		probably null	Het
Dctn2	T	C	10: 127,275,821 (GRCm38)		probably benign	Het
Dnm1l	A	G	16: 16,342,740 (GRCm38)		probably benign	Het
Dpp4	T	C	2: 62,334,644 (GRCm38)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309 (GRCm38)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390 (GRCm38)	W181*	probably null	Het
G2e3	T	A	12: 51,369,158 (GRCm38)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595 (GRCm38)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763 (GRCm38)	I572M	probably benign	Het
Gm5538	G	A	3: 59,743,605 (GRCm38)	M49I	probably benign	Het
Gpatch2l	T	A	12: 86,256,937 (GRCm38)		probably benign	Het
Kcnq4	A	G	4: 120,715,854 (GRCm38)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216 (GRCm38)	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081 (GRCm38)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147 (GRCm38)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782 (GRCm38)	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636 (GRCm38)		probably null	Het
Olfr1442	T	C	19: 12,674,238 (GRCm38)	I11T	probably damaging	Het
Olfr1494	A	G	19: 13,749,934 (GRCm38)	D276G	probably benign	Het
Olfr96	A	G	17: 37,225,326 (GRCm38)	N67S	probably damaging	Het
Pls1	A	T	9: 95,784,183 (GRCm38)	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512 (GRCm38)	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117 (GRCm38)		probably null	Het
Rrp7a	T	C	15: 83,122,691 (GRCm38)	E15G	probably benign	Het
Scn1a	T	A	2: 66,277,661 (GRCm38)	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,526,215 (GRCm38)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093 (GRCm38)		probably null	Het
Tbxas1	A	G	6: 39,023,080 (GRCm38)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523 (GRCm38)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092 (GRCm38)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543 (GRCm38)	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437 (GRCm38)	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267 (GRCm38)	L34Q	probably damaging	Het

Other mutations in Col14a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Col14a1	APN	15	55,411,585 (GRCm38)	missense	unknown
IGL01290:Col14a1	APN	15	55,423,507 (GRCm38)	missense	unknown
IGL01300:Col14a1	APN	15	55,467,976 (GRCm38)	missense	unknown
IGL01505:Col14a1	APN	15	55,455,223 (GRCm38)	missense	unknown
IGL01533:Col14a1	APN	15	55,420,840 (GRCm38)	missense	unknown
IGL01563:Col14a1	APN	15	55,487,941 (GRCm38)	missense	unknown
IGL01650:Col14a1	APN	15	55,406,693 (GRCm38)	missense	unknown
IGL01659:Col14a1	APN	15	55,446,172 (GRCm38)	unclassified	probably benign
IGL01670:Col14a1	APN	15	55,329,266 (GRCm38)	missense	unknown
IGL01760:Col14a1	APN	15	55,423,459 (GRCm38)	missense	unknown
IGL01803:Col14a1	APN	15	55,418,814 (GRCm38)	missense	unknown
IGL01966:Col14a1	APN	15	55,448,725 (GRCm38)	unclassified	probably benign
IGL01990:Col14a1	APN	15	55,363,463 (GRCm38)	missense	unknown
IGL02124:Col14a1	APN	15	55,463,703 (GRCm38)	missense	unknown
IGL02138:Col14a1	APN	15	55,420,835 (GRCm38)	missense	unknown
IGL02192:Col14a1	APN	15	55,362,402 (GRCm38)	missense	unknown
IGL02326:Col14a1	APN	15	55,418,797 (GRCm38)	missense	unknown
IGL02407:Col14a1	APN	15	55,448,876 (GRCm38)	splice site	probably benign
IGL02486:Col14a1	APN	15	55,388,696 (GRCm38)	splice site	probably benign
IGL02537:Col14a1	APN	15	55,344,914 (GRCm38)	nonsense	probably null
IGL02567:Col14a1	APN	15	55,344,961 (GRCm38)	critical splice donor site	probably null
IGL02643:Col14a1	APN	15	55,420,862 (GRCm38)	missense	unknown
IGL02669:Col14a1	APN	15	55,418,782 (GRCm38)	missense	unknown
IGL02673:Col14a1	APN	15	55,418,782 (GRCm38)	missense	unknown
IGL02674:Col14a1	APN	15	55,418,782 (GRCm38)	missense	unknown
IGL03201:Col14a1	APN	15	55,408,904 (GRCm38)	missense	unknown
IGL03334:Col14a1	APN	15	55,448,821 (GRCm38)	unclassified	probably benign
IGL03370:Col14a1	APN	15	55,488,541 (GRCm38)	splice site	probably null
IGL03385:Col14a1	APN	15	55,471,708 (GRCm38)	missense	unknown
IGL03385:Col14a1	APN	15	55,410,204 (GRCm38)	missense	unknown
PIT4131001:Col14a1	UTSW	15	55,448,876 (GRCm38)	splice site	probably benign
R0046:Col14a1	UTSW	15	55,408,963 (GRCm38)	splice site	probably benign
R0046:Col14a1	UTSW	15	55,408,963 (GRCm38)	splice site	probably benign
R0173:Col14a1	UTSW	15	55,488,532 (GRCm38)	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55,497,511 (GRCm38)	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55,497,511 (GRCm38)	missense	probably damaging	1.00
R0359:Col14a1	UTSW	15	55,407,868 (GRCm38)	splice site	probably benign
R0391:Col14a1	UTSW	15	55,446,259 (GRCm38)	unclassified	probably benign
R0468:Col14a1	UTSW	15	55,388,646 (GRCm38)	missense	unknown
R0652:Col14a1	UTSW	15	55,344,882 (GRCm38)	missense	unknown
R0692:Col14a1	UTSW	15	55,341,738 (GRCm38)	missense	unknown
R0745:Col14a1	UTSW	15	55,338,417 (GRCm38)	missense	unknown
R1006:Col14a1	UTSW	15	55,519,935 (GRCm38)	missense	probably benign	0.04
R1331:Col14a1	UTSW	15	55,410,188 (GRCm38)	missense	unknown
R1537:Col14a1	UTSW	15	55,380,767 (GRCm38)	missense	unknown
R1557:Col14a1	UTSW	15	55,388,579 (GRCm38)	missense	unknown
R1721:Col14a1	UTSW	15	55,447,462 (GRCm38)	unclassified	probably benign
R1737:Col14a1	UTSW	15	55,344,961 (GRCm38)	critical splice donor site	probably benign
R1837:Col14a1	UTSW	15	55,382,495 (GRCm38)	missense	unknown
R1867:Col14a1	UTSW	15	55,447,462 (GRCm38)	unclassified	probably benign
R1868:Col14a1	UTSW	15	55,447,462 (GRCm38)	unclassified	probably benign
R1991:Col14a1	UTSW	15	55,449,940 (GRCm38)	missense	unknown
R2020:Col14a1	UTSW	15	55,446,181 (GRCm38)	unclassified	probably benign
R2103:Col14a1	UTSW	15	55,449,940 (GRCm38)	missense	unknown
R2116:Col14a1	UTSW	15	55,407,764 (GRCm38)	missense	unknown
R2163:Col14a1	UTSW	15	55,444,645 (GRCm38)	unclassified	probably benign
R2207:Col14a1	UTSW	15	55,463,686 (GRCm38)	missense	unknown
R2215:Col14a1	UTSW	15	55,380,842 (GRCm38)	missense	unknown
R2264:Col14a1	UTSW	15	55,466,690 (GRCm38)	splice site	probably null
R2383:Col14a1	UTSW	15	55,447,517 (GRCm38)	unclassified	probably benign
R2397:Col14a1	UTSW	15	55,338,439 (GRCm38)	missense	unknown
R2422:Col14a1	UTSW	15	55,449,922 (GRCm38)	missense	unknown
R3793:Col14a1	UTSW	15	55,363,513 (GRCm38)	missense	unknown
R4082:Col14a1	UTSW	15	55,437,033 (GRCm38)	missense	unknown
R4112:Col14a1	UTSW	15	55,363,559 (GRCm38)	missense	unknown
R4519:Col14a1	UTSW	15	55,388,579 (GRCm38)	missense	unknown
R4628:Col14a1	UTSW	15	55,449,833 (GRCm38)	nonsense	probably null
R4692:Col14a1	UTSW	15	55,423,468 (GRCm38)	missense	unknown
R4696:Col14a1	UTSW	15	55,372,602 (GRCm38)	missense	unknown
R4749:Col14a1	UTSW	15	55,452,336 (GRCm38)	missense	unknown
R5324:Col14a1	UTSW	15	55,338,445 (GRCm38)	missense	unknown
R5382:Col14a1	UTSW	15	55,362,436 (GRCm38)	missense	unknown
R5634:Col14a1	UTSW	15	55,518,298 (GRCm38)	missense	probably damaging	1.00
R5781:Col14a1	UTSW	15	55,423,512 (GRCm38)	missense	unknown
R5828:Col14a1	UTSW	15	55,436,976 (GRCm38)	missense	unknown
R5873:Col14a1	UTSW	15	55,445,786 (GRCm38)	unclassified	probably benign
R5966:Col14a1	UTSW	15	55,452,383 (GRCm38)	critical splice donor site	probably null
R6106:Col14a1	UTSW	15	55,520,008 (GRCm38)	missense	probably damaging	1.00
R6135:Col14a1	UTSW	15	55,380,850 (GRCm38)	missense	unknown
R6319:Col14a1	UTSW	15	55,516,169 (GRCm38)	missense	probably damaging	0.99
R6475:Col14a1	UTSW	15	55,445,822 (GRCm38)	unclassified	probably benign
R6540:Col14a1	UTSW	15	55,372,581 (GRCm38)	missense	unknown
R6893:Col14a1	UTSW	15	55,444,648 (GRCm38)	unclassified	probably benign
R6992:Col14a1	UTSW	15	55,411,562 (GRCm38)	splice site	probably null
R7284:Col14a1	UTSW	15	55,518,319 (GRCm38)	missense	probably damaging	1.00
R7404:Col14a1	UTSW	15	55,388,628 (GRCm38)	nonsense	probably null
R7655:Col14a1	UTSW	15	55,362,450 (GRCm38)	missense	unknown
R7656:Col14a1	UTSW	15	55,362,450 (GRCm38)	missense	unknown
R7715:Col14a1	UTSW	15	55,487,983 (GRCm38)	missense	unknown
R7841:Col14a1	UTSW	15	55,382,480 (GRCm38)	missense	unknown
R7861:Col14a1	UTSW	15	55,444,616 (GRCm38)	missense	unknown
R7866:Col14a1	UTSW	15	55,388,620 (GRCm38)	missense	unknown
R7902:Col14a1	UTSW	15	55,501,436 (GRCm38)	missense	probably benign	0.16
R8041:Col14a1	UTSW	15	55,455,230 (GRCm38)	missense	unknown
R8159:Col14a1	UTSW	15	55,427,928 (GRCm38)	missense	unknown
R8224:Col14a1	UTSW	15	55,407,741 (GRCm38)	missense	unknown
R8282:Col14a1	UTSW	15	55,420,880 (GRCm38)	missense	unknown
R8729:Col14a1	UTSW	15	55,447,497 (GRCm38)	nonsense	probably null
R8737:Col14a1	UTSW	15	55,455,310 (GRCm38)	nonsense	probably null
R8871:Col14a1	UTSW	15	55,382,562 (GRCm38)	missense	unknown
R9069:Col14a1	UTSW	15	55,388,594 (GRCm38)	missense	unknown
R9081:Col14a1	UTSW	15	55,427,991 (GRCm38)	missense	unknown
R9088:Col14a1	UTSW	15	55,363,527 (GRCm38)	missense	unknown
R9113:Col14a1	UTSW	15	55,338,429 (GRCm38)	missense	unknown
R9193:Col14a1	UTSW	15	55,379,568 (GRCm38)	missense	unknown
R9274:Col14a1	UTSW	15	55,518,275 (GRCm38)	missense	probably damaging	0.99
R9288:Col14a1	UTSW	15	55,423,522 (GRCm38)	missense	unknown
R9320:Col14a1	UTSW	15	55,501,384 (GRCm38)	missense	probably benign	0.16
R9602:Col14a1	UTSW	15	55,487,949 (GRCm38)	missense	unknown
R9620:Col14a1	UTSW	15	55,362,385 (GRCm38)	missense	unknown
R9629:Col14a1	UTSW	15	55,519,149 (GRCm38)	missense
X0023:Col14a1	UTSW	15	55,423,447 (GRCm38)	missense	unknown
X0063:Col14a1	UTSW	15	55,410,215 (GRCm38)	missense	unknown
Z1177:Col14a1	UTSW	15	55,372,570 (GRCm38)	critical splice acceptor site	probably null

Posted On

2015-04-16