Mutagenetix > Incidental Mutation

Incidental Mutation 'R4396:Col19a1'

325471

Institutional Source

Beutler Lab

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

MMRRC Submission

041129-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24300971-24626553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24549947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 317 (T317A)

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

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

AlphaFold

Q0VF58

Predicted Effect

unknown
Transcript: ENSMUST00000051344
AA Change: T317A

SMART Domains

Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: T317A

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: T317A

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: T317A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (52/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	C	7: 119,195,143 (GRCm39)	F552L	probably damaging	Het
Actn2	A	G	13: 12,325,765 (GRCm39)	L70P	probably damaging	Het
Btbd7	A	G	12: 102,751,552 (GRCm39)	S1071P	probably benign	Het
Cd200r1	T	A	16: 44,586,417 (GRCm39)	W16R	probably benign	Het
Cdhr2	A	G	13: 54,863,478 (GRCm39)	N120D	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	T	C	7: 130,718,361 (GRCm39)	L1683P	probably damaging	Het
Dynll1	A	T	5: 115,438,700 (GRCm39)	C2S	probably benign	Het
Elp2	T	A	18: 24,742,707 (GRCm39)	S80T	probably damaging	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fzd3	A	G	14: 65,473,054 (GRCm39)	I238T	probably damaging	Het
Galnt7	A	T	8: 57,991,215 (GRCm39)	F432I	probably damaging	Het
Gemin5	T	A	11: 58,030,375 (GRCm39)	T817S	probably benign	Het
Gm5414	T	G	15: 101,534,101 (GRCm39)	E294A	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Kcnj4	C	A	15: 79,368,874 (GRCm39)	A369S	probably benign	Het
Llgl1	T	C	11: 60,596,834 (GRCm39)	V145A	probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mettl2	A	G	11: 105,017,604 (GRCm39)	D38G	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mpp4	T	C	1: 59,183,961 (GRCm39)	I260V	possibly damaging	Het
Mtcl1	T	C	17: 66,651,220 (GRCm39)	E1112G	probably damaging	Het
Mtus2	T	A	5: 148,140,748 (GRCm39)	N871K	possibly damaging	Het
Mylk	C	T	16: 34,732,645 (GRCm39)	Q642*	probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Or4f57	A	G	2: 111,790,560 (GRCm39)	I286T	probably damaging	Het
Pdzd2	A	T	15: 12,387,732 (GRCm39)	D875E	probably benign	Het
Piezo1	G	T	8: 123,225,413 (GRCm39)	T557K	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxnb1	T	C	9: 108,929,291 (GRCm39)	V49A	possibly damaging	Het
Pramel6	A	T	2: 87,338,874 (GRCm39)	I25F	probably damaging	Het
Rreb1	C	T	13: 38,114,419 (GRCm39)	Q593*	probably null	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Scnn1g	T	G	7: 121,339,650 (GRCm39)	S150A	probably benign	Het
Sec24a	A	G	11: 51,605,991 (GRCm39)	F686L	possibly damaging	Het
Sirt1	T	C	10: 63,157,777 (GRCm39)	T546A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf5	A	T	1: 191,729,806 (GRCm39)	V415E	probably benign	Het
Traip	C	G	9: 107,836,686 (GRCm39)	T110S	probably benign	Het
Treml2	T	C	17: 48,615,142 (GRCm39)	V209A	probably benign	Het
Trpv5	T	C	6: 41,634,830 (GRCm39)	S500G	probably benign	Het
Usp32	G	A	11: 84,944,801 (GRCm39)	L296F	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Zswim1	A	G	2: 164,667,369 (GRCm39)	D207G	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
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
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
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'- TCAAAGTGTTTCTGGTGCCC -3'
(R):5'- GCCCTGTACATGTGACATGAC -3'

Sequencing Primer
(F):5'- AGTCGCCCATGGTTCTTAGAAAG -3'
(R):5'- TGTACATGTGACATGACAGAAATTGG -3'

Posted On

2015-07-06