Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01916:Col19a1'

179929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01916

Quality Score

Status

Chromosome

Chromosomal Location

24300971-24626553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24573322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 150 (L150R)

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

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

AlphaFold

Q0VF58

Predicted Effect

unknown
Transcript: ENSMUST00000051344
AA Change: L150R

SMART Domains

Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: L150R

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: L150R

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: L150R

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,684,937 (GRCm39)	T187A	probably damaging	Het
A430005L14Rik	C	A	4: 154,045,997 (GRCm39)	F214L	possibly damaging	Het
A830018L16Rik	C	A	1: 11,818,331 (GRCm39)		probably benign	Het
Adgrd1	T	C	5: 129,209,902 (GRCm39)	S342P	probably benign	Het
Aldh4a1	A	G	4: 139,371,457 (GRCm39)	Y457C	probably damaging	Het
Ankrd7	A	T	6: 18,868,250 (GRCm39)	E124V	possibly damaging	Het
Atad5	T	A	11: 80,003,665 (GRCm39)		probably null	Het
Card14	T	C	11: 119,233,971 (GRCm39)	Y854H	probably benign	Het
Ccdc85c	T	C	12: 108,174,103 (GRCm39)	H355R	probably damaging	Het
Ccr3	T	A	9: 123,829,589 (GRCm39)	V308D	probably damaging	Het
Cep170	T	C	1: 176,567,476 (GRCm39)		probably benign	Het
Cmtr2	C	A	8: 110,948,580 (GRCm39)	Q297K	probably benign	Het
Cwf19l2	T	C	9: 3,477,869 (GRCm39)	I858T	possibly damaging	Het
Cyp39a1	C	T	17: 44,041,941 (GRCm39)	P383S	probably damaging	Het
Ddi2	C	T	4: 141,422,709 (GRCm39)		probably benign	Het
Dnah17	T	G	11: 118,016,114 (GRCm39)	I342L	probably benign	Het
Efhc1	T	C	1: 21,048,973 (GRCm39)	I462T	probably damaging	Het
Ephx4	A	T	5: 107,553,896 (GRCm39)		probably null	Het
Fam193b	A	G	13: 55,698,031 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,157,366 (GRCm39)	N2306D	possibly damaging	Het
Folr1	A	T	7: 101,507,947 (GRCm39)	H164Q	probably benign	Het
Fut10	T	C	8: 31,725,734 (GRCm39)	V163A	probably benign	Het
Gal3st4	G	A	5: 138,269,197 (GRCm39)	R83C	probably damaging	Het
Galnt16	T	C	12: 80,639,264 (GRCm39)		probably null	Het
Gata5	G	A	2: 179,968,734 (GRCm39)	S380F	possibly damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4787	A	T	12: 81,424,218 (GRCm39)	L647M	probably benign	Het
Gvin3	T	G	7: 106,201,033 (GRCm39)	H737P	probably benign	Het
Hcfc2	A	G	10: 82,570,217 (GRCm39)	K523E	possibly damaging	Het
Ift70a1	C	A	2: 75,811,223 (GRCm39)	V287L	probably damaging	Het
Igkv6-15	A	T	6: 70,383,458 (GRCm39)	Y114*	probably null	Het
Il10ra	A	T	9: 45,167,444 (GRCm39)	L369Q	probably damaging	Het
Il6st	A	G	13: 112,616,606 (GRCm39)	K51R	possibly damaging	Het
Kif26a	C	T	12: 112,143,328 (GRCm39)	P1194L	possibly damaging	Het
Kntc1	T	G	5: 123,939,976 (GRCm39)	L1590R	probably damaging	Het
Lipo3	G	T	19: 33,762,182 (GRCm39)	A105E	probably damaging	Het
Macf1	T	A	4: 123,335,423 (GRCm39)	S4382C	probably damaging	Het
Macf1	C	T	4: 123,369,830 (GRCm39)	E79K	probably damaging	Het
Nmnat2	T	C	1: 152,969,792 (GRCm39)	I195T	probably damaging	Het
Or11g25	A	G	14: 50,722,950 (GRCm39)	T12A	probably benign	Het
Pcdhb13	A	G	18: 37,576,914 (GRCm39)	T431A	possibly damaging	Het
Pcgf3	G	A	5: 108,634,045 (GRCm39)	G101D	probably benign	Het
Phip	T	C	9: 82,772,522 (GRCm39)	D1070G	possibly damaging	Het
Ren1	A	G	1: 133,286,150 (GRCm39)	H231R	probably benign	Het
Sox9	C	A	11: 112,675,500 (GRCm39)	Q230K	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,498,497 (GRCm39)	Y154N	probably damaging	Het
Thnsl1	A	T	2: 21,217,476 (GRCm39)	N410I	possibly damaging	Het
Tnfrsf21	A	T	17: 43,350,694 (GRCm39)	E286V	probably benign	Het
Trbv13-1	A	G	6: 41,093,246 (GRCm39)	R60G	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wrn	T	A	8: 33,747,252 (GRCm39)	I1110F	possibly damaging	Het
Zfp777	G	T	6: 48,002,276 (GRCm39)	R649S	probably damaging	Het
Zmym6	T	A	4: 127,017,549 (GRCm39)	I1110N	probably damaging	Het

Other mutations in Col19a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Col19a1	APN	1	24,600,387 (GRCm39)	missense	unknown
IGL00514:Col19a1	APN	1	24,576,013 (GRCm39)	missense	unknown
IGL00756:Col19a1	APN	1	24,362,023 (GRCm39)	missense	possibly damaging	0.85
IGL01408:Col19a1	APN	1	24,345,331 (GRCm39)	splice site	probably benign
IGL01608:Col19a1	APN	1	24,321,626 (GRCm39)	missense	probably damaging	1.00
IGL01664:Col19a1	APN	1	24,600,416 (GRCm39)	missense	unknown
IGL01906:Col19a1	APN	1	24,356,510 (GRCm39)	missense	probably damaging	1.00
IGL02040:Col19a1	APN	1	24,351,126 (GRCm39)	critical splice donor site	probably null
IGL02407:Col19a1	APN	1	24,351,453 (GRCm39)	splice site	probably null
IGL02505:Col19a1	APN	1	24,339,665 (GRCm39)	splice site	probably benign
IGL02606:Col19a1	APN	1	24,573,197 (GRCm39)	nonsense	probably null
IGL02659:Col19a1	APN	1	24,573,115 (GRCm39)	missense	unknown
IGL02815:Col19a1	APN	1	24,324,332 (GRCm39)	splice site	probably null
IGL02880:Col19a1	APN	1	24,365,054 (GRCm39)	splice site	probably benign
IGL02897:Col19a1	APN	1	24,573,179 (GRCm39)	missense	unknown
IGL03102:Col19a1	APN	1	24,367,134 (GRCm39)	missense	probably damaging	1.00
R0038:Col19a1	UTSW	1	24,598,825 (GRCm39)	missense	unknown
R0109:Col19a1	UTSW	1	24,598,849 (GRCm39)	splice site	probably null
R0124:Col19a1	UTSW	1	24,565,539 (GRCm39)	missense	unknown
R0326:Col19a1	UTSW	1	24,324,132 (GRCm39)	critical splice donor site	probably null
R0390:Col19a1	UTSW	1	24,328,736 (GRCm39)	splice site	probably benign
R0675:Col19a1	UTSW	1	24,614,536 (GRCm39)	start gained	probably benign
R0826:Col19a1	UTSW	1	24,565,467 (GRCm39)	missense	unknown
R0948:Col19a1	UTSW	1	24,335,882 (GRCm39)	missense	probably damaging	0.98
R1014:Col19a1	UTSW	1	24,340,354 (GRCm39)	critical splice donor site	probably null
R1619:Col19a1	UTSW	1	24,573,172 (GRCm39)	missense	unknown
R1691:Col19a1	UTSW	1	24,576,022 (GRCm39)	missense	unknown
R1878:Col19a1	UTSW	1	24,356,476 (GRCm39)	missense	probably benign	0.40
R1901:Col19a1	UTSW	1	24,576,078 (GRCm39)	missense	unknown
R1928:Col19a1	UTSW	1	24,490,835 (GRCm39)	splice site	probably benign
R1940:Col19a1	UTSW	1	24,303,831 (GRCm39)	nonsense	probably null
R2015:Col19a1	UTSW	1	24,598,834 (GRCm39)	missense	unknown
R2571:Col19a1	UTSW	1	24,413,712 (GRCm39)	missense	unknown
R2844:Col19a1	UTSW	1	24,598,762 (GRCm39)	missense	unknown
R2845:Col19a1	UTSW	1	24,598,762 (GRCm39)	missense	unknown
R3107:Col19a1	UTSW	1	24,377,017 (GRCm39)	missense	possibly damaging	0.71
R3861:Col19a1	UTSW	1	24,365,098 (GRCm39)	missense	probably damaging	1.00
R3872:Col19a1	UTSW	1	24,614,408 (GRCm39)	splice site	probably benign
R4180:Col19a1	UTSW	1	24,309,473 (GRCm39)	missense	probably damaging	1.00
R4195:Col19a1	UTSW	1	24,573,133 (GRCm39)	missense	unknown
R4196:Col19a1	UTSW	1	24,573,133 (GRCm39)	missense	unknown
R4234:Col19a1	UTSW	1	24,354,476 (GRCm39)	splice site	probably null
R4250:Col19a1	UTSW	1	24,564,726 (GRCm39)	missense	unknown
R4396:Col19a1	UTSW	1	24,549,947 (GRCm39)	missense	unknown
R4405:Col19a1	UTSW	1	24,573,190 (GRCm39)	missense	unknown
R4450:Col19a1	UTSW	1	24,361,116 (GRCm39)	missense	probably damaging	0.96
R4583:Col19a1	UTSW	1	24,600,410 (GRCm39)	missense	unknown
R4980:Col19a1	UTSW	1	24,565,564 (GRCm39)	missense	unknown
R5222:Col19a1	UTSW	1	24,598,721 (GRCm39)	splice site	probably null
R5407:Col19a1	UTSW	1	24,342,575 (GRCm39)	missense	probably damaging	0.99
R5439:Col19a1	UTSW	1	24,332,193 (GRCm39)	missense	probably damaging	1.00
R5739:Col19a1	UTSW	1	24,376,996 (GRCm39)	missense	probably damaging	1.00
R5740:Col19a1	UTSW	1	24,376,996 (GRCm39)	missense	probably damaging	1.00
R5891:Col19a1	UTSW	1	24,328,806 (GRCm39)	missense	probably damaging	1.00
R5996:Col19a1	UTSW	1	24,367,152 (GRCm39)	missense	probably damaging	1.00
R6074:Col19a1	UTSW	1	24,565,564 (GRCm39)	missense	unknown
R6152:Col19a1	UTSW	1	24,413,702 (GRCm39)	missense	unknown
R6191:Col19a1	UTSW	1	24,356,474 (GRCm39)	missense	probably damaging	1.00
R6236:Col19a1	UTSW	1	24,319,030 (GRCm39)	missense	probably damaging	1.00
R6315:Col19a1	UTSW	1	24,565,533 (GRCm39)	missense	unknown
R6709:Col19a1	UTSW	1	24,321,577 (GRCm39)	missense	probably damaging	1.00
R6748:Col19a1	UTSW	1	24,573,151 (GRCm39)	missense	unknown
R7098:Col19a1	UTSW	1	24,565,555 (GRCm39)	missense	unknown
R7114:Col19a1	UTSW	1	24,377,017 (GRCm39)	missense	possibly damaging	0.71
R7292:Col19a1	UTSW	1	24,569,089 (GRCm39)	missense	unknown
R7392:Col19a1	UTSW	1	24,573,115 (GRCm39)	missense	unknown
R7478:Col19a1	UTSW	1	24,356,788 (GRCm39)	missense	probably damaging	1.00
R7480:Col19a1	UTSW	1	24,356,788 (GRCm39)	missense	probably damaging	1.00
R7481:Col19a1	UTSW	1	24,356,788 (GRCm39)	missense	probably damaging	1.00
R7512:Col19a1	UTSW	1	24,356,788 (GRCm39)	missense	probably damaging	1.00
R7618:Col19a1	UTSW	1	24,361,165 (GRCm39)	missense	probably benign	0.07
R7698:Col19a1	UTSW	1	24,351,159 (GRCm39)	missense	probably benign	0.09
R7711:Col19a1	UTSW	1	24,569,089 (GRCm39)	missense	unknown
R7725:Col19a1	UTSW	1	24,309,525 (GRCm39)	missense	possibly damaging	0.94
R7831:Col19a1	UTSW	1	24,565,563 (GRCm39)	missense	unknown
R8252:Col19a1	UTSW	1	24,319,048 (GRCm39)	missense	probably benign	0.05
R8728:Col19a1	UTSW	1	24,365,113 (GRCm39)	missense	probably damaging	1.00
R9057:Col19a1	UTSW	1	24,549,962 (GRCm39)	missense	unknown
R9210:Col19a1	UTSW	1	24,500,555 (GRCm39)	critical splice donor site	probably null
R9212:Col19a1	UTSW	1	24,500,555 (GRCm39)	critical splice donor site	probably null
R9712:Col19a1	UTSW	1	24,367,148 (GRCm39)	missense	possibly damaging	0.86
R9777:Col19a1	UTSW	1	24,318,904 (GRCm39)	missense	unknown
Z1088:Col19a1	UTSW	1	24,319,021 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07