Mutagenetix > Incidental Mutation

Incidental Mutation 'R7725:Col19a1'

595426

Institutional Source

Beutler Lab

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

MMRRC Submission

045781-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24300971-24626553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24309525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1043 (S1043T)

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

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

AlphaFold

Q0VF58

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115244
AA Change: S1043T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: S1043T

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: 99.7%
20x: 99.3%

Validation Efficiency

100% (41/41)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	A	T	9: 69,387,410 (GRCm39)	K6N	unknown	Het
Arhgap20	T	A	9: 51,743,050 (GRCm39)	M296K	possibly damaging	Het
Bdh1	G	A	16: 31,256,910 (GRCm39)	V20I	not run	Het
Bop1	A	G	15: 76,339,583 (GRCm39)	I254T	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cct4	A	G	11: 22,940,814 (GRCm39)	K21E	probably benign	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,546,853 (GRCm39)	Y238*	probably null	Het
Ctcf	A	G	8: 106,390,468 (GRCm39)	Y25C	probably damaging	Het
Dennd4c	C	T	4: 86,704,330 (GRCm39)	R282C	probably benign	Het
Eef1g	T	A	19: 8,955,427 (GRCm39)	H425Q	probably benign	Het
Fam131b	C	T	6: 42,295,476 (GRCm39)	A234T	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam187b	A	G	7: 30,677,139 (GRCm39)	D216G	possibly damaging	Het
Gabra1	A	T	11: 42,026,270 (GRCm39)	Y341N	possibly damaging	Het
Glb1l3	T	A	9: 26,739,659 (GRCm39)		probably null	Het
Gm3667	T	A	14: 18,271,599 (GRCm39)	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,242,118 (GRCm39)	R242H	probably damaging	Het
Gulo	T	C	14: 66,245,522 (GRCm39)	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,358,680 (GRCm39)	E49V	unknown	Het
Htra4	A	G	8: 25,527,169 (GRCm39)	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,489,196 (GRCm39)	S22P	probably benign	Het
Lypd8l	A	T	11: 58,499,325 (GRCm39)	N164K	probably benign	Het
Med12l	A	G	3: 59,163,413 (GRCm39)	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,284,788 (GRCm39)	D592E	probably benign	Het
Muc15	A	G	2: 110,562,143 (GRCm39)	D193G	probably damaging	Het
Ncor2	A	G	5: 125,100,630 (GRCm39)	V1316A		Het
Odad1	T	A	7: 45,597,835 (GRCm39)	S582T	probably damaging	Het
Or2t43	A	G	11: 58,457,593 (GRCm39)	Y193H	probably damaging	Het
Or2y10	A	T	11: 49,455,359 (GRCm39)	I204L	probably benign	Het
Or5t16	T	C	2: 86,819,323 (GRCm39)	I66V	probably benign	Het
Serpina6	A	T	12: 103,614,936 (GRCm39)	Y303*	probably null	Het
Shld2	T	G	14: 33,990,661 (GRCm39)	T82P	possibly damaging	Het
Shroom3	T	C	5: 93,089,512 (GRCm39)	L754P	probably benign	Het
Skint5	C	A	4: 113,685,099 (GRCm39)	L539F	unknown	Het
St3gal4	C	A	9: 34,964,375 (GRCm39)	R209L	possibly damaging	Het
Tex14	A	C	11: 87,385,868 (GRCm39)	T243P	probably damaging	Het
Ttc12	T	A	9: 49,351,602 (GRCm39)	M632L	probably benign	Het
Ttn	T	C	2: 76,738,116 (GRCm39)	E4187G	unknown	Het
Txk	G	A	5: 72,864,900 (GRCm39)	A379V	probably damaging	Het
Wdr43	A	G	17: 71,923,338 (GRCm39)	Y28C	probably benign	Het
Zfp1005	A	G	2: 150,110,468 (GRCm39)	Y386C	unknown	Het
Zfp40	A	G	17: 23,397,251 (GRCm39)	V82A	probably benign	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	probably benign	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
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
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'- TGAACTTAGAACAGCAGGTATATCC -3'
(R):5'- ACAGGCAGACCAGTTGATATAG -3'

Sequencing Primer
(F):5'- AGTCCACAACAAGCCATTTTATAC -3'
(R):5'- GCAGACCAGTTGATATAGAATATGTG -3'

Posted On

2019-11-12