Mutagenetix > Incidental Mutation

Incidental Mutation 'R2015:Col19a1'

222724

Institutional Source

Beutler Lab

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

MMRRC Submission

040024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24261890-24587472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 24559753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 53 (G53A)

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]

AlphaFold

Q0VF58

Predicted Effect

unknown
Transcript: ENSMUST00000051344
AA Change: G53A

SMART Domains

Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: G53A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TSPN	47	231	1.61e-63	SMART
low complexity region	254	266	N/A	INTRINSIC
Pfam:Collagen	288	349	1e-9	PFAM
Pfam:Collagen	325	391	2.2e-10	PFAM
Pfam:Collagen	376	442	1.4e-8	PFAM
Pfam:Collagen	436	500	2.9e-9	PFAM
Pfam:Collagen	474	536	6.3e-10	PFAM
Pfam:Collagen	519	579	5.6e-10	PFAM
Pfam:Collagen	559	620	1.2e-8	PFAM
Pfam:Collagen	619	675	8.7e-11	PFAM
Pfam:Collagen	697	774	2.4e-8	PFAM
Pfam:Collagen	753	819	8.7e-10	PFAM
Pfam:Collagen	831	892	8.8e-12	PFAM
internal_repeat_2	905	943	3.52e-11	PROSPERO
internal_repeat_1	905	980	8.61e-26	PROSPERO
internal_repeat_2	947	982	3.52e-11	PROSPERO
low complexity region	983	1003	N/A	INTRINSIC
low complexity region	1030	1042	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000115244
AA Change: G53A

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: G53A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TSPN	47	231	1.61e-63	SMART
low complexity region	254	266	N/A	INTRINSIC
Pfam:Collagen	288	347	3.1e-9	PFAM
Pfam:Collagen	330	391	1.1e-9	PFAM
internal_repeat_4	455	492	1.88e-5	PROSPERO
Pfam:Collagen	519	579	2e-9	PFAM
Pfam:Collagen	559	620	4.9e-8	PFAM
Pfam:Collagen	619	675	3.5e-10	PFAM
low complexity region	723	741	N/A	INTRINSIC
Pfam:Collagen	753	819	2.8e-9	PFAM
Pfam:Collagen	831	892	3.9e-11	PFAM
internal_repeat_2	905	943	1.18e-11	PROSPERO
internal_repeat_1	905	980	8.89e-27	PROSPERO
internal_repeat_2	947	982	1.18e-11	PROSPERO
low complexity region	983	1003	N/A	INTRINSIC
low complexity region	1048	1069	N/A	INTRINSIC
low complexity region	1078	1115	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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 XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	A	11: 101,987,218	H35Q	probably damaging	Het
1700015F17Rik	T	A	5: 5,455,964	I106L	probably benign	Het
Abca9	A	T	11: 110,131,846	M1022K	probably benign	Het
Abhd4	T	A	14: 54,262,832	H74Q	probably damaging	Het
Actg1	A	G	11: 120,346,810	S49P	possibly damaging	Het
Adcy8	C	T	15: 64,767,878	G678S	probably benign	Het
Aire	T	C	10: 78,042,958	D85G	probably damaging	Het
Akr1c18	T	A	13: 4,145,309	D50V	probably damaging	Het
Ankrd13a	C	A	5: 114,792,109	A185E	probably damaging	Het
Apc	A	G	18: 34,315,591	I1813V	probably damaging	Het
Armc8	A	T	9: 99,483,105	C661*	probably null	Het
Bbs10	C	T	10: 111,300,855	Q610*	probably null	Het
Blm	T	C	7: 80,502,399	E600G	probably damaging	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
Cdk14	T	C	5: 5,380,082	K15R	probably benign	Het
Cdr1	A	G	X: 61,184,814	F249L	probably benign	Het
Cep250	A	C	2: 155,981,453	H1009P	probably damaging	Het
Clasp2	A	G	9: 113,911,500	T495A	possibly damaging	Het
Cpne1	G	A	2: 156,078,388	R166C	probably damaging	Het
Dtx3l	G	A	16: 35,936,427	H129Y	probably benign	Het
Ercc3	A	G	18: 32,248,429	T433A	probably benign	Het
Gm9936	T	A	5: 114,857,421		probably benign	Het
Grina	T	C	15: 76,248,534	V167A	probably damaging	Het
Hcfc2	A	G	10: 82,738,980	N618D	probably benign	Het
Herpud1	T	C	8: 94,392,206	V196A	probably benign	Het
Hist3h2a	T	A	11: 58,954,928	L64Q	probably damaging	Het
Hlcs	A	G	16: 94,262,740	V487A	probably benign	Het
Hspa9	A	T	18: 34,946,648	Y243N	probably damaging	Het
Igll1	A	G	16: 16,863,775	S39P	probably benign	Het
Kdm5a	T	C	6: 120,431,990	S1545P	probably benign	Het
Klra8	C	A	6: 130,115,573	C255F	probably damaging	Het
Krtap4-6	A	T	11: 99,665,572	C110S	unknown	Het
Lef1	T	A	3: 131,111,587	I39N	probably damaging	Het
Lnpep	G	A	17: 17,579,063	T110I	probably damaging	Het
Lrp1	T	A	10: 127,540,694	T4282S	probably benign	Het
Lrp6	A	G	6: 134,480,374		probably null	Het
Ly6g5b	A	C	17: 35,114,678	S53A	possibly damaging	Het
M6pr	T	G	6: 122,313,373	N98K	probably damaging	Het
Mal2	T	C	15: 54,600,740	*176Q	probably null	Het
Mansc1	T	C	6: 134,610,311	D301G	possibly damaging	Het
March1	C	A	8: 66,121,821	N11K	probably damaging	Het
Mast3	T	A	8: 70,787,363	I338F	probably benign	Het
Mcm3	A	G	1: 20,803,580	L772P	probably damaging	Het
Mib2	C	T	4: 155,657,880	G176D	probably damaging	Het
Mier2	A	T	10: 79,541,202		probably null	Het
Mogs	C	T	6: 83,117,650	R483*	probably null	Het
Msl2	G	T	9: 101,075,251		probably benign	Het
Naa16	A	T	14: 79,345,059	M530K	probably damaging	Het
Nde1	A	T	16: 14,169,457		probably benign	Het
Ndufb10	T	C	17: 24,722,529		probably null	Het
Nhsl1	A	T	10: 18,511,592	R205W	probably damaging	Het
Npffr2	T	A	5: 89,582,892	I227N	probably damaging	Het
Nup210l	T	A	3: 90,185,432	L1231Q	probably damaging	Het
Olfr1355	T	C	10: 78,879,388	I72T	possibly damaging	Het
Olfr453	A	G	6: 42,744,850	E271G	probably damaging	Het
Pclo	C	A	5: 14,521,501	P300Q	probably damaging	Het
Pik3c2a	T	A	7: 116,350,931		probably null	Het
Plekha5	T	A	6: 140,534,564		probably null	Het
Pls1	A	G	9: 95,761,365	V527A	possibly damaging	Het
Ppfia2	T	C	10: 106,474,677	M15T	probably benign	Het
Prkd2	T	A	7: 16,847,677	C152*	probably null	Het
Ptprq	T	G	10: 107,667,422	K792Q	probably damaging	Het
Rbbp8	T	C	18: 11,720,624	M296T	probably benign	Het
Rfc3	T	C	5: 151,647,538		probably null	Het
Rnf17	A	G	14: 56,486,969	N1090S	probably benign	Het
Sash1	A	T	10: 8,729,413	V1071D	probably benign	Het
Sdsl	G	A	5: 120,463,153	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,647,624	Q365L	probably benign	Het
Sgta	A	T	10: 81,051,296	V45E	probably damaging	Het
Slc25a46	A	T	18: 31,609,725	H29Q	probably benign	Het
Slc2a8	A	C	2: 32,981,380	V136G	probably benign	Het
Smg7	A	T	1: 152,860,508	N166K	probably damaging	Het
Spata21	C	T	4: 141,107,329	Q505*	probably null	Het
Strn4	T	C	7: 16,833,028	S458P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,299,684	T248M	probably damaging	Het
Trabd	T	A	15: 89,084,726	M149K	possibly damaging	Het
Trpv3	A	T	11: 73,279,827	N178Y	probably damaging	Het
Try5	C	T	6: 41,314,651		probably null	Het
Tsg101	C	T	7: 46,908,904		probably null	Het
Ube3b	A	G	5: 114,411,149	E738G	probably damaging	Het
Unc13d	A	G	11: 116,068,755	S631P	probably damaging	Het
Unc5d	T	C	8: 28,758,979	T297A	probably damaging	Het
Usp18	A	T	6: 121,268,550	E1V	probably damaging	Het
Vapb	C	A	2: 173,771,598	P97T	probably benign	Het
Vmn1r33	T	A	6: 66,612,372	D66V	probably benign	Het
Vmn2r19	T	A	6: 123,315,995	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,620,637	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,142	S1074P	probably damaging	Het
Vwde	C	A	6: 13,208,338	G182C	possibly damaging	Het
Wdfy3	A	C	5: 101,860,486	S2778A	probably null	Het
Zbtb2	T	A	10: 4,369,757	I90F	possibly damaging	Het
Zfp518b	C	A	5: 38,672,002	V887F	probably benign	Het
Zfp790	A	G	7: 29,828,861	T324A	probably benign	Het
Zufsp	A	G	10: 33,929,824	V437A	possibly damaging	Het

Other mutations in Col19a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Col19a1	APN	1	24561306	missense	unknown
IGL00514:Col19a1	APN	1	24536932	missense	unknown
IGL00756:Col19a1	APN	1	24322942	missense	possibly damaging	0.85
IGL01408:Col19a1	APN	1	24306250	splice site	probably benign
IGL01608:Col19a1	APN	1	24282545	missense	probably damaging	1.00
IGL01664:Col19a1	APN	1	24561335	missense	unknown
IGL01906:Col19a1	APN	1	24317429	missense	probably damaging	1.00
IGL01916:Col19a1	APN	1	24534241	missense	unknown
IGL02040:Col19a1	APN	1	24312045	critical splice donor site	probably null
IGL02407:Col19a1	APN	1	24312372	splice site	probably null
IGL02505:Col19a1	APN	1	24300584	splice site	probably benign
IGL02606:Col19a1	APN	1	24534116	nonsense	probably null
IGL02659:Col19a1	APN	1	24534034	missense	unknown
IGL02815:Col19a1	APN	1	24285251	splice site	probably null
IGL02880:Col19a1	APN	1	24325973	splice site	probably benign
IGL02897:Col19a1	APN	1	24534098	missense	unknown
IGL03102:Col19a1	APN	1	24328053	missense	probably damaging	1.00
R0038:Col19a1	UTSW	1	24559744	missense	unknown
R0109:Col19a1	UTSW	1	24559768	splice site	probably null
R0124:Col19a1	UTSW	1	24526458	missense	unknown
R0326:Col19a1	UTSW	1	24285051	critical splice donor site	probably null
R0390:Col19a1	UTSW	1	24289655	splice site	probably benign
R0675:Col19a1	UTSW	1	24575455	start gained	probably benign
R0826:Col19a1	UTSW	1	24526386	missense	unknown
R0948:Col19a1	UTSW	1	24296801	missense	probably damaging	0.98
R1014:Col19a1	UTSW	1	24301273	critical splice donor site	probably null
R1619:Col19a1	UTSW	1	24534091	missense	unknown
R1691:Col19a1	UTSW	1	24536941	missense	unknown
R1878:Col19a1	UTSW	1	24317395	missense	probably benign	0.40
R1901:Col19a1	UTSW	1	24536997	missense	unknown
R1928:Col19a1	UTSW	1	24451754	splice site	probably benign
R1940:Col19a1	UTSW	1	24264750	nonsense	probably null
R2571:Col19a1	UTSW	1	24374631	missense	unknown
R2844:Col19a1	UTSW	1	24559681	missense	unknown
R2845:Col19a1	UTSW	1	24559681	missense	unknown
R3107:Col19a1	UTSW	1	24337936	missense	possibly damaging	0.71
R3861:Col19a1	UTSW	1	24326017	missense	probably damaging	1.00
R3872:Col19a1	UTSW	1	24575327	splice site	probably benign
R4180:Col19a1	UTSW	1	24270392	missense	probably damaging	1.00
R4195:Col19a1	UTSW	1	24534052	missense	unknown
R4196:Col19a1	UTSW	1	24534052	missense	unknown
R4234:Col19a1	UTSW	1	24315395	splice site	probably null
R4250:Col19a1	UTSW	1	24525645	missense	unknown
R4396:Col19a1	UTSW	1	24510866	missense	unknown
R4405:Col19a1	UTSW	1	24534109	missense	unknown
R4450:Col19a1	UTSW	1	24322035	missense	probably damaging	0.96
R4583:Col19a1	UTSW	1	24561329	missense	unknown
R4980:Col19a1	UTSW	1	24526483	missense	unknown
R5222:Col19a1	UTSW	1	24559640	splice site	probably null
R5407:Col19a1	UTSW	1	24303494	missense	probably damaging	0.99
R5439:Col19a1	UTSW	1	24293112	missense	probably damaging	1.00
R5739:Col19a1	UTSW	1	24337915	missense	probably damaging	1.00
R5740:Col19a1	UTSW	1	24337915	missense	probably damaging	1.00
R5891:Col19a1	UTSW	1	24289725	missense	probably damaging	1.00
R5996:Col19a1	UTSW	1	24328071	missense	probably damaging	1.00
R6074:Col19a1	UTSW	1	24526483	missense	unknown
R6152:Col19a1	UTSW	1	24374621	missense	unknown
R6191:Col19a1	UTSW	1	24317393	missense	probably damaging	1.00
R6236:Col19a1	UTSW	1	24279949	missense	probably damaging	1.00
R6315:Col19a1	UTSW	1	24526452	missense	unknown
R6709:Col19a1	UTSW	1	24282496	missense	probably damaging	1.00
R6748:Col19a1	UTSW	1	24534070	missense	unknown
R7098:Col19a1	UTSW	1	24526474	missense	unknown
R7114:Col19a1	UTSW	1	24337936	missense	possibly damaging	0.71
R7292:Col19a1	UTSW	1	24530008	missense	unknown
R7392:Col19a1	UTSW	1	24534034	missense	unknown
R7478:Col19a1	UTSW	1	24317707	missense	probably damaging	1.00
R7480:Col19a1	UTSW	1	24317707	missense	probably damaging	1.00
R7481:Col19a1	UTSW	1	24317707	missense	probably damaging	1.00
R7512:Col19a1	UTSW	1	24317707	missense	probably damaging	1.00
R7618:Col19a1	UTSW	1	24322084	missense	probably benign	0.07
R7698:Col19a1	UTSW	1	24312078	missense	probably benign	0.09
R7711:Col19a1	UTSW	1	24530008	missense	unknown
R7725:Col19a1	UTSW	1	24270444	missense	possibly damaging	0.94
R7831:Col19a1	UTSW	1	24526482	missense	unknown
R8252:Col19a1	UTSW	1	24279967	missense	probably benign	0.05
R8728:Col19a1	UTSW	1	24326032	missense	probably damaging	1.00
R9057:Col19a1	UTSW	1	24510881	missense	unknown
R9210:Col19a1	UTSW	1	24461474	critical splice donor site	probably null
R9212:Col19a1	UTSW	1	24461474	critical splice donor site	probably null
R9712:Col19a1	UTSW	1	24328067	missense	possibly damaging	0.86
R9777:Col19a1	UTSW	1	24279823	missense	unknown
Z1088:Col19a1	UTSW	1	24279940	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGTTACAGCTTTGGGGTACACTAC -3'
(R):5'- CACATTTGCTGATTTCAAACAGGAG -3'

Sequencing Primer
(F):5'- AGCTTTGGGGTACACTACTGAGC -3'
(R):5'- CCTGTGGATATGGATAACAAAG -3'

Posted On

2014-08-25