Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01608:Col19a1'

91848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

24261890-24587472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24282545 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 961 (R961C)

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000051344
AA Change: R961C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: R961C

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

probably damaging
Transcript: ENSMUST00000115244
AA Change: R961C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: R961C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144297

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 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	A	G	15: 101,562,629	I66T	probably benign	Het
Abca1	A	T	4: 53,038,158	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,259,442	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,272,165	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,553,774	S311P	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
AF529169	T	C	9: 89,596,498	T832A	probably benign	Het
Atf2	G	T	2: 73,819,078	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,813,136	R74*	probably null	Het
Brpf3	T	C	17: 28,821,517	S971P	probably benign	Het
Btn1a1	T	C	13: 23,461,608	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,114	A87V	possibly damaging	Het
Celf4	A	G	18: 25,497,503	L376P	probably damaging	Het
Chrm3	G	A	13: 9,878,598	A134V	possibly damaging	Het
Cr2	A	G	1: 195,155,220	V1190A	possibly damaging	Het
Dopey1	T	A	9: 86,507,561	S515T	probably benign	Het
Eprs	T	A	1: 185,385,114		probably benign	Het
Fbn2	G	T	18: 58,053,704	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,664,682	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,191,094	I44F	probably damaging	Het
Gpr22	T	A	12: 31,708,780	K411*	probably null	Het
Ipo11	A	G	13: 106,834,494		probably benign	Het
Klri1	T	A	6: 129,698,167	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,354,811	V950M	probably damaging	Het
Knop1	T	C	7: 118,845,796	K315R	probably benign	Het
Lrrc32	T	A	7: 98,499,357	V448D	probably benign	Het
Met	T	C	6: 17,558,730	V1119A	probably damaging	Het
Mipep	T	A	14: 60,802,230	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,316,921	T81A	probably benign	Het
Mtbp	G	T	15: 55,557,689	E24*	probably null	Het
Muc5b	C	T	7: 141,846,437	T476I	unknown	Het
Mup6	C	T	4: 60,006,021	T163I	probably benign	Het
Myo1g	T	A	11: 6,516,780	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,870,836	K1292*	probably null	Het
Nbeal1	T	A	1: 60,242,535		probably benign	Het
Nck1	C	A	9: 100,497,387	R270S	probably benign	Het
Neb	T	C	2: 52,170,536	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,195,543	L96*	probably null	Het
Olfr1250	A	T	2: 89,656,491		probably benign	Het
Olfr141	A	C	2: 86,806,425	Y191*	probably null	Het
Olfr606	A	T	7: 103,451,804	I156F	probably benign	Het
Olfr738	A	T	14: 50,414,453	H303L	probably benign	Het
Padi2	A	G	4: 140,932,230	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,308,750	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,356,925	D552G	probably damaging	Het
Peli3	A	G	19: 4,932,827	I270T	probably damaging	Het
Phf20	A	G	2: 156,276,596	M407V	probably benign	Het
Ppm1h	C	T	10: 122,941,280	R103*	probably null	Het
Rangap1	C	T	15: 81,709,504	V457M	probably benign	Het
Scube2	A	G	7: 109,843,254	V257A	probably benign	Het
Shc1	C	A	3: 89,424,849	Q204K	probably damaging	Het
Slc6a4	T	A	11: 77,027,135	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,946,478	F7L	probably benign	Het
St6galnac4	T	A	2: 32,594,086	C99S	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Supt6	A	T	11: 78,225,483	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 193,187,110	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,847,633	I287F	probably damaging	Het
Zmym2	C	A	14: 56,948,015	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably 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
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
R2015:Col19a1	UTSW	1	24559753	missense	unknown
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
Z1088:Col19a1	UTSW	1	24279940	missense	probably damaging	1.00

Posted On

2013-12-09