Mutagenetix > Incidental Mutation

Incidental Mutation 'R8224:Col14a1'

636907

Institutional Source

Beutler Lab

Gene Symbol

Col14a1

Ensembl Gene

ENSMUSG00000022371

Gene Name

collagen, type XIV, alpha 1

Synonyms

5730412L22Rik

MMRRC Submission

067660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55171146-55384199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55271137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 630 (Y630F)

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: Y630F

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: Y630F

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: Y630F

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: Y630F

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: Y630F

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: Y630F

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

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,249 (GRCm39)	E45V	probably damaging	Het
Adamts9	A	T	6: 92,773,351 (GRCm39)	V1754D	probably damaging	Het
Ankrd26	G	A	6: 118,502,716 (GRCm39)	T818M	probably damaging	Het
Card11	T	C	5: 140,888,632 (GRCm39)	E242G	possibly damaging	Het
Cdh20	G	T	1: 109,921,933 (GRCm39)	L8F	probably benign	Het
Cenpa	T	C	5: 30,830,699 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,781,800 (GRCm39)	V11A	probably benign	Het
Chfr	T	A	5: 110,308,109 (GRCm39)		probably null	Het
Cst5	A	G	2: 149,251,902 (GRCm39)	N126D	possibly damaging	Het
Cubn	T	C	2: 13,354,688 (GRCm39)	T1903A	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Gon4l	A	G	3: 88,802,449 (GRCm39)	E1020G	probably damaging	Het
Gp1ba	A	G	11: 70,530,683 (GRCm39)	N150D	unknown	Het
Gstm2	T	C	3: 107,891,314 (GRCm39)	I169V	probably benign	Het
Ighv1-75	A	T	12: 115,797,859 (GRCm39)	V21D	probably benign	Het
Il7	T	C	3: 7,642,308 (GRCm39)	M51V	possibly damaging	Het
Insm2	A	T	12: 55,646,763 (GRCm39)	D169V	probably damaging	Het
Jmjd1c	A	G	10: 67,080,628 (GRCm39)	D373G	noncoding transcript	Het
Kif16b	T	C	2: 142,676,008 (GRCm39)	N431D	probably benign	Het
Kmt2a	A	C	9: 44,719,326 (GRCm39)	I3925S	unknown	Het
Lgi4	G	A	7: 30,763,017 (GRCm39)	C164Y	probably damaging	Het
Lrfn5	A	T	12: 61,890,192 (GRCm39)	I494F	possibly damaging	Het
Map9	T	C	3: 82,266,370 (GRCm39)	I5T	probably benign	Het
Ncf2	T	C	1: 152,706,144 (GRCm39)	V252A	possibly damaging	Het
Nlrp4g	A	T	9: 124,353,374 (GRCm38)	I573F	noncoding transcript	Het
Nrn1	G	A	13: 36,918,258 (GRCm39)	L3F	probably damaging	Het
Or1ab2	A	G	8: 72,864,223 (GRCm39)	D271G	noncoding transcript	Het
Or2d2	T	A	7: 106,728,079 (GRCm39)	I174F	probably damaging	Het
Or5h24	A	T	16: 58,919,117 (GRCm39)	D79E	unknown	Het
Or6c8	A	G	10: 128,915,304 (GRCm39)	F176S	possibly damaging	Het
Otop1	C	A	5: 38,457,846 (GRCm39)	T535K	possibly damaging	Het
Pacs2	A	G	12: 113,023,380 (GRCm39)	T333A	probably damaging	Het
Pax3	T	C	1: 78,098,327 (GRCm39)	Y354C	probably damaging	Het
Phlpp1	T	C	1: 106,320,348 (GRCm39)	S1448P	probably damaging	Het
Pias4	C	A	10: 81,003,565 (GRCm39)		probably benign	Het
Ppp1r12b	T	C	1: 134,830,200 (GRCm39)	N113S	probably benign	Het
Ptpn12	G	T	5: 21,203,656 (GRCm39)	P374Q	probably damaging	Het
Reg4	A	T	3: 98,132,011 (GRCm39)		probably benign	Het
Sh3bp5	T	C	14: 31,099,473 (GRCm39)	D256G	probably damaging	Het
Slc25a32	C	G	15: 38,976,015 (GRCm39)		probably benign	Het
Tnip2	C	T	5: 34,671,003 (GRCm39)	R80Q	possibly damaging	Het
Uroc1	A	G	6: 90,321,049 (GRCm39)		probably null	Het
Washc2	A	C	6: 116,218,457 (GRCm39)	K634T	probably damaging	Het
Xpot	A	T	10: 121,443,513 (GRCm39)	Y405N	probably damaging	Het
Yes1	T	C	5: 32,816,417 (GRCm39)	Y365H	probably benign	Het
Zfp607a	A	T	7: 27,577,536 (GRCm39)	E202V	probably damaging	Het
Zfp932	T	C	5: 110,144,480 (GRCm39)		probably benign	Het
Zfp947	A	C	17: 22,364,363 (GRCm39)	M437R	probably benign	Het
Zscan10	A	G	17: 23,828,366 (GRCm39)	T303A	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
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
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	55,273,600 (GRCm39)	missense	unknown
IGL03385:Col14a1	APN	15	55,335,104 (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
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

Predicted Primers

PCR Primer
(F):5'- GACATTAAAGTCACACCGGATGG -3'
(R):5'- TTCGGCAGTAGGGATTCACTTC -3'

Sequencing Primer
(F):5'- TCACACCGGATGGATCGAG -3'
(R):5'- ATTCACTTCCGGGGAACATG -3'

Posted On

2020-07-13