Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Col19a1'

730214

Institutional Source

Beutler Lab

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24261890-24587472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24328067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 478 (E478G)

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

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

AlphaFold

Q0VF58

Predicted Effect

probably benign
Transcript: ENSMUST00000051344
AA Change: E478G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: E478G

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

possibly damaging
Transcript: ENSMUST00000115244
AA Change: E478G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: E478G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	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
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
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
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
R9777:Col19a1	UTSW	1	24279823	missense	unknown
Z1088:Col19a1	UTSW	1	24279940	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACATGGTAGCACTTATCAAGG -3'
(R):5'- TTCACAATCAGAAGTTTTAGCCCTG -3'

Sequencing Primer
(F):5'- TCAAAGGTATTAGGCGCC -3'
(R):5'- CTGGGCAGCATTTCAATTTGAC -3'

Posted On

2022-10-06