Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Col14a1'

697832

Institutional Source

Beutler Lab

Gene Symbol

Col14a1

Ensembl Gene

ENSMUSG00000022371

Gene Name

collagen, type XIV, alpha 1

Synonyms

5730412L22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55307750-55520803 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55379568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 371 (M371V)

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: M371V

SMART Domains

Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: M371V

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: M371V

SMART Domains

Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: M371V

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: M371V

SMART Domains

Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: M371V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,519	D284G	probably benign	Het
Ak1	A	T	2: 32,630,379	K79M	probably benign	Het
Amy1	T	C	3: 113,562,629	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,348,051	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,984,820	G35D	probably benign	Het
Cachd1	C	A	4: 100,777,142	P5Q	unknown	Het
Capn13	A	T	17: 73,345,196	I266N	probably damaging	Het
Ccdc144b	G	T	3: 36,035,279	N165K	probably benign	Het
Chil3	A	G	3: 106,155,765	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,527,486	I571T	probably damaging	Het
Dag1	A	G	9: 108,208,268	L558P	possibly damaging	Het
Edem3	G	A	1: 151,818,519	E868K	probably benign	Het
Eif3k	T	C	7: 28,974,199	Y150C	probably damaging	Het
Farp1	T	C	14: 121,280,869	I988T	probably benign	Het
Fat3	A	G	9: 15,998,952	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112	I79T	probably benign	Het
Gbp8	T	C	5: 105,031,303	D110G	probably damaging	Het
H2-Bl	A	G	17: 36,081,064	V39A	possibly damaging	Het
H2-M2	T	A	17: 37,482,537	M193L	probably benign	Het
Ighv7-1	T	A	12: 113,896,490	D94V	probably damaging	Het
Il2ra	T	C	2: 11,684,391	F244L	possibly damaging	Het
Jag1	A	T	2: 137,089,844	H602Q	probably null	Het
Kidins220	A	T	12: 24,986,967	I16F	possibly damaging	Het
Klb	A	G	5: 65,372,025	T299A	possibly damaging	Het
Lama4	A	G	10: 39,075,448	K1063R	probably benign	Het
Lrit2	A	G	14: 37,072,593	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,353,374	L32*	probably null	Het
Lrrtm3	A	T	10: 63,930,104	I568N	probably damaging	Het
Myom1	A	G	17: 71,036,300	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,846,578	D696G	probably damaging	Het
Nalcn	A	T	14: 123,308,380	L1073*	probably null	Het
Nid2	T	C	14: 19,803,210	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,092,622	V833A	probably benign	Het
Nyap2	T	C	1: 81,297,997	S619P	probably damaging	Het
Olfr1008	C	A	2: 85,690,300	Y290*	probably null	Het
Olfr1243	A	G	2: 89,527,643	Y256H	probably damaging	Het
Olfr434	A	T	6: 43,217,152	T80S	probably benign	Het
Olfr976	T	C	9: 39,956,582	M118V	probably damaging	Het
P3h2	T	C	16: 26,105,241	N148S	probably benign	Het
P4htm	A	G	9: 108,582,882	M231T	probably damaging	Het
Pank1	T	A	19: 34,827,234	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,265,600	Y210H	probably benign	Het
Prl2a1	T	A	13: 27,808,552	C220S	probably damaging	Het
Prpmp5	T	C	6: 132,312,033	H276R	unknown	Het
Psca	C	T	15: 74,716,083	Q39*	probably null	Het
Rgs20	A	T	1: 5,020,844	M121K	possibly damaging	Het
S100z	C	T	13: 95,477,375	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,462,837	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,088,744	Y214C	probably damaging	Het
Sox5	C	T	6: 143,844,844	E497K	probably benign	Het
Sptbn1	C	T	11: 30,137,551	E963K	possibly damaging	Het
Srl	T	C	16: 4,493,859	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,626,574	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,786	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,634,222	V191A	probably damaging	Het
Thap7	A	T	16: 17,529,037	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,317,258	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,531,158	A61G	probably benign	Het
Trim30c	C	T	7: 104,382,346	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,423,870	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,893,583	C104S	probably damaging	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp735	A	T	11: 73,689,774	Y33F	possibly damaging	Het

Other mutations in Col14a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Col14a1	APN	15	55411585	missense	unknown
IGL01290:Col14a1	APN	15	55423507	missense	unknown
IGL01300:Col14a1	APN	15	55467976	missense	unknown
IGL01505:Col14a1	APN	15	55455223	missense	unknown
IGL01533:Col14a1	APN	15	55420840	missense	unknown
IGL01563:Col14a1	APN	15	55487941	missense	unknown
IGL01650:Col14a1	APN	15	55406693	missense	unknown
IGL01659:Col14a1	APN	15	55446172	unclassified	probably benign
IGL01670:Col14a1	APN	15	55329266	missense	unknown
IGL01760:Col14a1	APN	15	55423459	missense	unknown
IGL01803:Col14a1	APN	15	55418814	missense	unknown
IGL01966:Col14a1	APN	15	55448725	unclassified	probably benign
IGL01990:Col14a1	APN	15	55363463	missense	unknown
IGL02124:Col14a1	APN	15	55463703	missense	unknown
IGL02138:Col14a1	APN	15	55420835	missense	unknown
IGL02192:Col14a1	APN	15	55362402	missense	unknown
IGL02326:Col14a1	APN	15	55418797	missense	unknown
IGL02335:Col14a1	APN	15	55463769	splice site	probably benign
IGL02407:Col14a1	APN	15	55448876	splice site	probably benign
IGL02486:Col14a1	APN	15	55388696	splice site	probably benign
IGL02537:Col14a1	APN	15	55344914	nonsense	probably null
IGL02567:Col14a1	APN	15	55344961	critical splice donor site	probably null
IGL02643:Col14a1	APN	15	55420862	missense	unknown
IGL02669:Col14a1	APN	15	55418782	missense	unknown
IGL02673:Col14a1	APN	15	55418782	missense	unknown
IGL02674:Col14a1	APN	15	55418782	missense	unknown
IGL03201:Col14a1	APN	15	55408904	missense	unknown
IGL03334:Col14a1	APN	15	55448821	unclassified	probably benign
IGL03370:Col14a1	APN	15	55488541	splice site	probably null
IGL03385:Col14a1	APN	15	55410204	missense	unknown
IGL03385:Col14a1	APN	15	55471708	missense	unknown
PIT4131001:Col14a1	UTSW	15	55448876	splice site	probably benign
R0046:Col14a1	UTSW	15	55408963	splice site	probably benign
R0046:Col14a1	UTSW	15	55408963	splice site	probably benign
R0173:Col14a1	UTSW	15	55488532	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55497511	missense	probably damaging	1.00
R0242:Col14a1	UTSW	15	55497511	missense	probably damaging	1.00
R0359:Col14a1	UTSW	15	55407868	splice site	probably benign
R0391:Col14a1	UTSW	15	55446259	unclassified	probably benign
R0468:Col14a1	UTSW	15	55388646	missense	unknown
R0652:Col14a1	UTSW	15	55344882	missense	unknown
R0692:Col14a1	UTSW	15	55341738	missense	unknown
R0745:Col14a1	UTSW	15	55338417	missense	unknown
R1006:Col14a1	UTSW	15	55519935	missense	probably benign	0.04
R1331:Col14a1	UTSW	15	55410188	missense	unknown
R1537:Col14a1	UTSW	15	55380767	missense	unknown
R1557:Col14a1	UTSW	15	55388579	missense	unknown
R1721:Col14a1	UTSW	15	55447462	unclassified	probably benign
R1737:Col14a1	UTSW	15	55344961	critical splice donor site	probably benign
R1837:Col14a1	UTSW	15	55382495	missense	unknown
R1867:Col14a1	UTSW	15	55447462	unclassified	probably benign
R1868:Col14a1	UTSW	15	55447462	unclassified	probably benign
R1991:Col14a1	UTSW	15	55449940	missense	unknown
R2020:Col14a1	UTSW	15	55446181	unclassified	probably benign
R2103:Col14a1	UTSW	15	55449940	missense	unknown
R2116:Col14a1	UTSW	15	55407764	missense	unknown
R2163:Col14a1	UTSW	15	55444645	unclassified	probably benign
R2207:Col14a1	UTSW	15	55463686	missense	unknown
R2215:Col14a1	UTSW	15	55380842	missense	unknown
R2264:Col14a1	UTSW	15	55466690	splice site	probably null
R2383:Col14a1	UTSW	15	55447517	unclassified	probably benign
R2397:Col14a1	UTSW	15	55338439	missense	unknown
R2422:Col14a1	UTSW	15	55449922	missense	unknown
R3793:Col14a1	UTSW	15	55363513	missense	unknown
R4082:Col14a1	UTSW	15	55437033	missense	unknown
R4112:Col14a1	UTSW	15	55363559	missense	unknown
R4519:Col14a1	UTSW	15	55388579	missense	unknown
R4628:Col14a1	UTSW	15	55449833	nonsense	probably null
R4692:Col14a1	UTSW	15	55423468	missense	unknown
R4696:Col14a1	UTSW	15	55372602	missense	unknown
R4749:Col14a1	UTSW	15	55452336	missense	unknown
R5324:Col14a1	UTSW	15	55338445	missense	unknown
R5382:Col14a1	UTSW	15	55362436	missense	unknown
R5634:Col14a1	UTSW	15	55518298	missense	probably damaging	1.00
R5781:Col14a1	UTSW	15	55423512	missense	unknown
R5828:Col14a1	UTSW	15	55436976	missense	unknown
R5873:Col14a1	UTSW	15	55445786	unclassified	probably benign
R5966:Col14a1	UTSW	15	55452383	critical splice donor site	probably null
R6106:Col14a1	UTSW	15	55520008	missense	probably damaging	1.00
R6135:Col14a1	UTSW	15	55380850	missense	unknown
R6319:Col14a1	UTSW	15	55516169	missense	probably damaging	0.99
R6475:Col14a1	UTSW	15	55445822	unclassified	probably benign
R6540:Col14a1	UTSW	15	55372581	missense	unknown
R6893:Col14a1	UTSW	15	55444648	unclassified	probably benign
R6992:Col14a1	UTSW	15	55411562	splice site	probably null
R7284:Col14a1	UTSW	15	55518319	missense	probably damaging	1.00
R7404:Col14a1	UTSW	15	55388628	nonsense	probably null
R7655:Col14a1	UTSW	15	55362450	missense	unknown
R7656:Col14a1	UTSW	15	55362450	missense	unknown
R7715:Col14a1	UTSW	15	55487983	missense	unknown
R7841:Col14a1	UTSW	15	55382480	missense	unknown
R7861:Col14a1	UTSW	15	55444616	missense	unknown
R7866:Col14a1	UTSW	15	55388620	missense	unknown
R7902:Col14a1	UTSW	15	55501436	missense	probably benign	0.16
R8041:Col14a1	UTSW	15	55455230	missense	unknown
R8159:Col14a1	UTSW	15	55427928	missense	unknown
R8224:Col14a1	UTSW	15	55407741	missense	unknown
R8282:Col14a1	UTSW	15	55420880	missense	unknown
R8729:Col14a1	UTSW	15	55447497	nonsense	probably null
R8737:Col14a1	UTSW	15	55455310	nonsense	probably null
R8871:Col14a1	UTSW	15	55382562	missense	unknown
R9069:Col14a1	UTSW	15	55388594	missense	unknown
R9081:Col14a1	UTSW	15	55427991	missense	unknown
R9088:Col14a1	UTSW	15	55363527	missense	unknown
R9113:Col14a1	UTSW	15	55338429	missense	unknown
R9274:Col14a1	UTSW	15	55518275	missense	probably damaging	0.99
R9288:Col14a1	UTSW	15	55423522	missense	unknown
R9320:Col14a1	UTSW	15	55501384	missense	probably benign	0.16
R9602:Col14a1	UTSW	15	55487949	missense	unknown
R9620:Col14a1	UTSW	15	55362385	missense	unknown
R9629:Col14a1	UTSW	15	55519149	missense
X0023:Col14a1	UTSW	15	55423447	missense	unknown
X0063:Col14a1	UTSW	15	55410215	missense	unknown
Z1177:Col14a1	UTSW	15	55372570	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACCATAGCTTCGAGAGTCAC -3'
(R):5'- CTTAGGATGACTGGATGGCAG -3'

Sequencing Primer
(F):5'- CATAGCTTCGAGAGTCACTGCTG -3'
(R):5'- CTTAAACTGTTTAAGCAGAAGGATGC -3'

Posted On

2022-02-07