Mutagenetix > Incidental Mutation

Incidental Mutation 'R1928:Col19a1'

215005

Institutional Source

Beutler Lab

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

MMRRC Submission

039946-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24300971-24626553 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24490835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

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

AlphaFold

Q0VF58

Predicted Effect

probably benign
Transcript: ENSMUST00000051344

SMART Domains

Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141

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 benign
Transcript: ENSMUST00000115244

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141

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

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

98% (120/123)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	G	6: 132,603,564 (GRCm39)	Q64P	unknown	Het
Adgrv1	A	T	13: 81,668,905 (GRCm39)	F1830L	probably benign	Het
Anks3	C	T	16: 4,763,918 (GRCm39)		probably null	Het
Aqp12	G	A	1: 92,934,332 (GRCm39)	D70N	probably damaging	Het
B4galnt4	C	T	7: 140,648,061 (GRCm39)	R526*	probably null	Het
Best2	A	G	8: 85,737,882 (GRCm39)	F171S	probably benign	Het
C2cd5	A	T	6: 142,958,956 (GRCm39)	V965D	probably damaging	Het
Cd33	T	C	7: 43,179,303 (GRCm39)	E282G	probably benign	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chd6	A	T	2: 160,809,920 (GRCm39)		probably benign	Het
Clec4d	A	T	6: 123,244,120 (GRCm39)		probably null	Het
Cntd1	C	T	11: 101,174,678 (GRCm39)	S128L	probably damaging	Het
Ctrb1	C	A	8: 112,415,324 (GRCm39)	V117L	probably benign	Het
Dclk1	T	C	3: 55,154,942 (GRCm39)	V124A	possibly damaging	Het
Dcp2	T	C	18: 44,538,638 (GRCm39)		probably null	Het
Dctn1	C	A	6: 83,176,166 (GRCm39)		probably benign	Het
Dennd11	A	G	6: 40,388,648 (GRCm39)	F238L	probably benign	Het
Ephb3	T	A	16: 21,041,045 (GRCm39)	M701K	possibly damaging	Het
Ero1b	A	G	13: 12,616,648 (GRCm39)	E359G	probably damaging	Het
Exosc8	G	T	3: 54,636,266 (GRCm39)	A255E	probably damaging	Het
Fhip1a	G	A	3: 85,595,838 (GRCm39)	P349L	probably damaging	Het
Fndc3c1	C	T	X: 105,477,128 (GRCm39)	A824T	probably benign	Het
Gja10	G	A	4: 32,601,812 (GRCm39)	Q191*	probably null	Het
Gm1587	C	T	14: 78,036,288 (GRCm39)	R6Q	unknown	Het
Gm3409	A	G	5: 146,476,418 (GRCm39)	I190V	probably benign	Het
Gm4952	G	T	19: 12,600,973 (GRCm39)	M64I	probably damaging	Het
Gramd1b	C	T	9: 40,217,765 (GRCm39)	M595I	possibly damaging	Het
Grik1	C	T	16: 87,848,241 (GRCm39)	V176M	probably damaging	Het
Grin2b	A	G	6: 136,021,044 (GRCm39)	C86R	probably damaging	Het
Gtse1	C	T	15: 85,746,264 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,589,719 (GRCm39)	Y615H	probably damaging	Het
Hydin	T	C	8: 111,229,579 (GRCm39)	F1552S	possibly damaging	Het
Ifi207	A	G	1: 173,557,211 (GRCm39)	V516A	possibly damaging	Het
Igfbp5	G	T	1: 72,913,184 (GRCm39)	P39T	probably damaging	Het
Il23r	T	A	6: 67,400,719 (GRCm39)	D537V	possibly damaging	Het
Invs	A	G	4: 48,390,095 (GRCm39)	Y251C	probably damaging	Het
Isl1	G	T	13: 116,444,953 (GRCm39)	H25Q	probably damaging	Het
Kif13a	A	G	13: 46,966,221 (GRCm39)	L399P	probably damaging	Het
Klhl1	A	G	14: 96,584,225 (GRCm39)	V335A	probably benign	Het
Klhl14	C	A	18: 21,784,843 (GRCm39)	A195S	probably damaging	Het
Lepr	A	G	4: 101,639,927 (GRCm39)		probably benign	Het
Map1b	A	C	13: 99,567,454 (GRCm39)	S1756A	unknown	Het
Med23	C	T	10: 24,785,710 (GRCm39)	A877V	probably benign	Het
Mfsd4b2	T	C	10: 39,797,458 (GRCm39)	Y299C	probably damaging	Het
Mipol1	T	A	12: 57,379,205 (GRCm39)	M221K	probably damaging	Het
Muc4	A	T	16: 32,569,350 (GRCm39)	S137C	probably damaging	Het
Mutyh	T	C	4: 116,673,855 (GRCm39)	Y189H	probably damaging	Het
Nabp2	T	C	10: 128,245,182 (GRCm39)	T21A	possibly damaging	Het
Nalf1	T	C	8: 9,820,217 (GRCm39)	T268A	probably benign	Het
Nell1	T	A	7: 50,350,943 (GRCm39)	V530E	possibly damaging	Het
Npc1	G	C	18: 12,346,435 (GRCm39)	P254A	possibly damaging	Het
Nup153	A	G	13: 46,854,502 (GRCm39)	V530A	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j5	T	C	1: 172,784,881 (GRCm39)	V173A	probably damaging	Het
Or11h4b	A	G	14: 50,918,872 (GRCm39)	V73A	probably benign	Het
Or7e177	T	C	9: 20,212,354 (GRCm39)	V287A	probably benign	Het
Pabpc1l	T	A	2: 163,874,174 (GRCm39)	I193N	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,066 (GRCm39)	Y193H	probably damaging	Het
Pank1	T	C	19: 34,856,281 (GRCm39)	S66G	probably benign	Het
Pcdhb1	A	T	18: 37,399,233 (GRCm39)	K395*	probably null	Het
Pcna	A	G	2: 132,093,817 (GRCm39)		probably benign	Het
Pgr	T	A	9: 8,903,630 (GRCm39)	Y550*	probably null	Het
Phf11a	A	G	14: 59,519,316 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,151,524 (GRCm39)		probably benign	Het
Pofut2	T	A	10: 77,096,642 (GRCm39)	Y122*	probably null	Het
Pole	A	G	5: 110,475,644 (GRCm39)	M1818V	probably benign	Het
Rapgef3	A	G	15: 97,647,914 (GRCm39)	L696P	probably damaging	Het
Rasal3	T	C	17: 32,616,327 (GRCm39)	D310G	probably damaging	Het
Rhoq	A	G	17: 87,302,486 (GRCm39)	K141E	probably benign	Het
Rilpl1	A	G	5: 124,652,813 (GRCm39)		probably benign	Het
Rnaseh1	T	C	12: 28,703,088 (GRCm39)	S91P	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Saa1	C	A	7: 46,391,856 (GRCm39)	G31W	probably null	Het
Saxo5	T	A	8: 3,536,947 (GRCm39)	I431K	possibly damaging	Het
Scaf8	A	G	17: 3,218,352 (GRCm39)	T241A	unknown	Het
Scarb2	C	T	5: 92,592,125 (GRCm39)	A473T	possibly damaging	Het
Scnn1b	T	C	7: 121,509,670 (GRCm39)	F273S	probably damaging	Het
Sdccag8	T	C	1: 176,656,536 (GRCm39)	V136A	probably damaging	Het
Sdr16c6	A	T	4: 4,069,926 (GRCm39)	V138E	probably damaging	Het
Sf3a3	G	A	4: 124,615,886 (GRCm39)	A180T	possibly damaging	Het
Slc16a5	T	A	11: 115,360,842 (GRCm39)	S342T	probably damaging	Het
Slc18a1	A	G	8: 69,526,464 (GRCm39)	S75P	probably benign	Het
Slc7a6	T	A	8: 106,920,120 (GRCm39)		probably benign	Het
Smco3	G	A	6: 136,808,845 (GRCm39)	Q10*	probably null	Het
Spem2	T	C	11: 69,708,290 (GRCm39)	Q225R	probably benign	Het
Ssb	G	T	2: 69,697,901 (GRCm39)		probably null	Het
Stx8	T	C	11: 68,000,106 (GRCm39)	I182T	probably damaging	Het
Synj2	T	A	17: 6,040,542 (GRCm39)	I121N	probably damaging	Het
Tbc1d1	T	C	5: 64,502,643 (GRCm39)	Y1055H	probably damaging	Het
Thbs3	G	T	3: 89,125,067 (GRCm39)	R52L	probably damaging	Het
Tmem101	C	T	11: 102,044,222 (GRCm39)	V222I	probably benign	Het
Tnks2	C	T	19: 36,823,068 (GRCm39)	Q112*	probably null	Het
Tnrc6b	T	A	15: 80,764,924 (GRCm39)	W809R	probably damaging	Het
Trib2	T	A	12: 15,865,454 (GRCm39)	R16S	probably damaging	Het
Trim12a	T	C	7: 103,956,331 (GRCm39)	N70D	probably damaging	Het
Trim55	T	A	3: 19,716,046 (GRCm39)		probably null	Het
Tspyl5	T	A	15: 33,687,153 (GRCm39)	D264V	probably damaging	Het
Ttn	A	G	2: 76,555,388 (GRCm39)	V30539A	probably damaging	Het
Tubgcp3	A	G	8: 12,713,988 (GRCm39)	F43S	possibly damaging	Het
Tut7	A	G	13: 59,964,548 (GRCm39)	L209P	probably damaging	Het
Ube3d	A	G	9: 86,305,056 (GRCm39)	L262P	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,651 (GRCm39)	V270A	probably benign	Het
Vav3	T	A	3: 109,413,738 (GRCm39)	F225L	possibly damaging	Het
Vmn1r21	G	T	6: 57,821,077 (GRCm39)	Y122*	probably null	Het
Vmn1r225	C	A	17: 20,723,071 (GRCm39)	Q171K	probably benign	Het
Vmn2r103	T	C	17: 20,032,029 (GRCm39)	V601A	possibly damaging	Het
Vmn2r19	T	A	6: 123,308,589 (GRCm39)	N555K	probably damaging	Het
Vps33a	G	A	5: 123,696,684 (GRCm39)	A323V	probably benign	Het
Wdr77	C	T	3: 105,874,618 (GRCm39)	P337S	probably benign	Het
Wnk1	A	T	6: 119,929,884 (GRCm39)	I93N	probably damaging	Het
Zbtb9	T	A	17: 27,193,612 (GRCm39)	I339N	probably damaging	Het
Zfp202	T	A	9: 40,121,083 (GRCm39)	D241E	probably damaging	Het
Zfp235	T	A	7: 23,840,563 (GRCm39)	Y327*	probably null	Het
Zfp820	A	C	17: 22,038,316 (GRCm39)	D337E	probably benign	Het
Zfp944	T	C	17: 22,560,065 (GRCm39)	T14A	probably damaging	Het
Zfy1	A	G	Y: 729,733 (GRCm39)	V303A	unknown	Het
Zfyve26	C	T	12: 79,286,744 (GRCm39)	W2281*	probably null	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
IGL01916:Col19a1	APN	1	24,573,322 (GRCm39)	missense	unknown
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCAAGTATGTCATTGCTCAG -3'
(R):5'- GAACATGAAACAGCTATCATTGTGC -3'

Sequencing Primer
(F):5'- CAGGGCAGAAATTCATCTTTAAAGTG -3'
(R):5'- ATTTTCTGGTAGGGAAATTGAGAAG -3'

Posted On

2014-07-14