Mutagenetix > Incidental Mutation

Incidental Mutation 'R6319:Col14a1'

509355

Institutional Source

Beutler Lab

Gene Symbol

Col14a1

Ensembl Gene

ENSMUSG00000022371

Gene Name

collagen, type XIV, alpha 1

Synonyms

5730412L22Rik

MMRRC Submission

044474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55171146-55384199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55379565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1693 (T1693A)

Ref Sequence

ENSEMBL: ENSMUSP00000105850 (fasta)

Gene Model

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

AlphaFold

Q80X19

Predicted Effect

probably damaging
Transcript: ENSMUST00000023053
AA Change: T1696A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: T1696A

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 damaging
Transcript: ENSMUST00000110217
AA Change: T1697A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: T1697A

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 damaging
Transcript: ENSMUST00000110221
AA Change: T1693A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: T1693A

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

unknown
Transcript: ENSMUST00000125416
AA Change: T435A

SMART Domains

Protein: ENSMUSP00000122455
Gene: ENSMUSG00000022371
AA Change: T435A

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

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,651,723 (GRCm39)	S372P	probably benign	Het
Adam34	A	G	8: 44,104,952 (GRCm39)	I231T	probably benign	Het
Adgrg6	T	A	10: 14,307,366 (GRCm39)	H840L	probably damaging	Het
Akap11	T	C	14: 78,750,978 (GRCm39)	T470A	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
B430306N03Rik	A	T	17: 48,623,771 (GRCm39)	Q24L	probably damaging	Het
Bmp6	A	T	13: 38,530,390 (GRCm39)	H161L	probably benign	Het
Cdca8	C	A	4: 124,815,087 (GRCm39)	D177Y	possibly damaging	Het
Cpsf1	A	G	15: 76,481,167 (GRCm39)	S1230P	probably damaging	Het
Dcaf13	A	G	15: 39,007,067 (GRCm39)	T334A	probably benign	Het
Dhx32	A	C	7: 133,338,955 (GRCm39)	V360G	probably damaging	Het
Dmxl1	A	G	18: 49,985,367 (GRCm39)	T205A	probably benign	Het
Dxo	A	G	17: 35,057,367 (GRCm39)	E253G	probably damaging	Het
Enpp1	T	C	10: 24,523,929 (GRCm39)	Y747C	probably damaging	Het
Gga2	T	C	7: 121,601,389 (GRCm39)	E238G	possibly damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Grik4	A	T	9: 42,477,632 (GRCm39)	M518K	probably damaging	Het
Igf2r	T	A	17: 12,933,000 (GRCm39)	S841C	probably damaging	Het
Itfg1	G	T	8: 86,567,258 (GRCm39)	T37K	probably damaging	Het
Kcnn4	T	A	7: 24,081,165 (GRCm39)	M301K	possibly damaging	Het
Kel	C	A	6: 41,679,381 (GRCm39)	E127D	probably benign	Het
Lrp4	A	G	2: 91,310,666 (GRCm39)	Y569C	probably damaging	Het
Lrp6	A	T	6: 134,518,798 (GRCm39)	V89D	possibly damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Mnd1	A	G	3: 84,049,071 (GRCm39)	S2P	possibly damaging	Het
Neb	T	A	2: 52,053,023 (GRCm39)		probably null	Het
Or51af1	T	C	7: 103,141,932 (GRCm39)	E51G	possibly damaging	Het
Or5h23	A	G	16: 58,906,384 (GRCm39)	I154T	probably benign	Het
Or8g17	A	G	9: 38,930,810 (GRCm39)	V9A	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Plekhm3	A	T	1: 64,961,093 (GRCm39)	Y388N	probably benign	Het
Prr18	G	T	17: 8,560,143 (GRCm39)	V100F	probably damaging	Het
Rnf25	T	C	1: 74,634,890 (GRCm39)	Y44C	probably damaging	Het
Smg6	T	C	11: 75,047,048 (GRCm39)	L1247P	probably damaging	Het
Spata31e2	G	A	1: 26,724,482 (GRCm39)	R233C	probably benign	Het
Tdh	T	C	14: 63,733,186 (GRCm39)	T137A	probably benign	Het
Tmem200a	A	G	10: 25,869,393 (GRCm39)	V292A	probably damaging	Het
Ubr3	T	C	2: 69,803,758 (GRCm39)	V1116A	probably benign	Het
Ubr4	G	A	4: 139,136,200 (GRCm39)	E942K	possibly damaging	Het
Unc5b	G	A	10: 60,614,580 (GRCm39)	A239V	probably damaging	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Vmn2r115	A	G	17: 23,566,877 (GRCm39)	E463G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATGTGACCACCTGTAATGTG -3'
(R):5'- TGCACTGGCCTTGCAATAAAATAC -3'

Sequencing Primer
(F):5'- TGACCACCTGTAATGTGATTTTG -3'
(R):5'- CTGGCCTTGCAATAAAATACATGAG -3'

Posted On

2018-04-02