Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02669:Col14a1'

302842

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 #

IGL02669

Quality Score

Status

Chromosome

Chromosomal Location

55171146-55384199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55282178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 813 (G813E)

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: G816E

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: G816E

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: G817E

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: G817E

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: G813E

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: G813E

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	A	16: 19,702,505 (GRCm39)		noncoding transcript	Het
Acap1	G	A	11: 69,785,421 (GRCm39)		probably benign	Het
Adam7	T	C	14: 68,745,343 (GRCm39)	Y627C	probably damaging	Het
Agrn	C	T	4: 156,259,018 (GRCm39)		probably benign	Het
Aoc1l2	A	G	6: 48,908,407 (GRCm39)	Y469C	probably damaging	Het
Bace2	T	C	16: 97,238,093 (GRCm39)	*515R	probably null	Het
Baiap3	C	T	17: 25,463,322 (GRCm39)	V958M	probably damaging	Het
Brms1l	A	T	12: 55,888,401 (GRCm39)	D63V	probably damaging	Het
Cnksr1	A	T	4: 133,957,774 (GRCm39)	I435N	probably damaging	Het
Cpne6	A	G	14: 55,751,283 (GRCm39)	N201S	probably benign	Het
Dnajc12	A	G	10: 63,233,071 (GRCm39)	S71G	probably damaging	Het
Dpp3	A	T	19: 4,973,710 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,100,974 (GRCm39)	S239P	probably benign	Het
Eif3e	T	A	15: 43,146,088 (GRCm39)	M1L	probably benign	Het
Erap1	A	G	13: 74,823,987 (GRCm39)	T867A	probably benign	Het
Erlin1	G	T	19: 44,027,658 (GRCm39)	A260E	probably damaging	Het
Esrp1	A	G	4: 11,386,324 (GRCm39)	V38A	possibly damaging	Het
Foxn1	T	C	11: 78,261,986 (GRCm39)	R128G	probably damaging	Het
Gnb3	A	G	6: 124,814,688 (GRCm39)	L70P	probably benign	Het
Gon4l	T	C	3: 88,802,806 (GRCm39)	V1139A	probably damaging	Het
Gpt2	G	T	8: 86,249,908 (GRCm39)	M463I	probably benign	Het
Gtpbp3	C	A	8: 71,943,546 (GRCm39)	A201D	probably damaging	Het
Jaml	A	C	9: 45,015,489 (GRCm39)	K331T	possibly damaging	Het
Kntc1	G	A	5: 123,893,727 (GRCm39)		probably benign	Het
Ksr2	A	G	5: 117,693,446 (GRCm39)	K298R	probably damaging	Het
Mfge8	T	C	7: 78,795,429 (GRCm39)	D46G	probably benign	Het
Ncam2	T	A	16: 81,314,429 (GRCm39)	N468K	probably benign	Het
Nup88	A	G	11: 70,847,110 (GRCm39)	M300T	probably damaging	Het
Or4c118	T	A	2: 88,974,564 (GRCm39)	K268*	probably null	Het
Or4k48	A	T	2: 111,476,236 (GRCm39)	Y35*	probably null	Het
Or52b4	A	G	7: 102,184,868 (GRCm39)	M305V	probably benign	Het
Prdm1	A	T	10: 44,315,880 (GRCm39)	M752K	probably benign	Het
Prl3b1	A	T	13: 27,429,795 (GRCm39)	M78L	probably benign	Het
Ralgps2	T	C	1: 156,660,268 (GRCm39)	E268G	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Slc4a5	A	G	6: 83,240,525 (GRCm39)	D279G	possibly damaging	Het
Tanc1	T	A	2: 59,630,330 (GRCm39)	I770K	probably damaging	Het
Tbl2	G	A	5: 135,181,852 (GRCm39)	R64H	probably damaging	Het
Tg	T	A	15: 66,620,575 (GRCm39)		probably benign	Het
Tmprss13	A	T	9: 45,243,824 (GRCm39)	I187F	probably benign	Het
Tubb3	T	C	8: 124,147,856 (GRCm39)	L263P	probably damaging	Het
Vmn2r109	T	G	17: 20,774,518 (GRCm39)	D279A	possibly damaging	Het
Vps33b	A	G	7: 79,925,786 (GRCm39)		probably benign	Het
Yeats2	A	G	16: 20,005,033 (GRCm39)	S338G	probably benign	Het
Zfp142	T	C	1: 74,610,432 (GRCm39)	Q1121R	probably benign	Het
Zic1	G	T	9: 91,246,486 (GRCm39)	H195Q	possibly 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
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
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