Mutagenetix > Incidental Mutation

Incidental Mutation 'R0749:Dpy19l1'

70254

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l1

Ensembl Gene

ENSMUSG00000043067

Gene Name

dpy-19 like C-mannosyltransferase 1

Synonyms

1100001I19Rik

MMRRC Submission

038929-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R0749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24323074-24414436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24373880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 270 (H270L)

Ref Sequence

ENSEMBL: ENSMUSP00000129575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115277] [ENSMUST00000142064] [ENSMUST00000170356]

AlphaFold

A6X919

Predicted Effect

probably benign
Transcript: ENSMUST00000115277
AA Change: H76L

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110932
Gene: ENSMUSG00000043067
AA Change: H76L

Domain	Start	End	E-Value	Type
Pfam:Dpy19	10	549	1.6e-212	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142064
AA Change: H270L

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: H270L

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	42	69	N/A	INTRINSIC
Pfam:Dpy19	99	743	2e-247	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170356
AA Change: H270L

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: H270L

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	42	69	N/A	INTRINSIC
Pfam:Dpy19	98	743	5.5e-264	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aprt	A	T	8: 123,302,149 (GRCm39)	Y105N	probably damaging	Het
Atxn2l	A	T	7: 126,100,009 (GRCm39)	S109T	possibly damaging	Het
Bbs9	T	C	9: 22,486,497 (GRCm39)		probably null	Het
Bmp4	T	C	14: 46,622,070 (GRCm39)	E158G	probably damaging	Het
Btn2a2	T	C	13: 23,662,568 (GRCm39)	*418W	probably null	Het
Cpt1c	A	G	7: 44,612,250 (GRCm39)	Y494H	probably damaging	Het
Cyp3a16	T	A	5: 145,392,987 (GRCm39)		probably null	Het
Fdxr	A	G	11: 115,167,671 (GRCm39)	S15P	probably benign	Het
Gm8688	T	G	8: 100,391,152 (GRCm39)		noncoding transcript	Het
Golph3l	G	A	3: 95,515,260 (GRCm39)	R134Q	probably damaging	Het
Hmgxb4	A	G	8: 75,727,565 (GRCm39)	T183A	probably damaging	Het
Krt1c	T	G	15: 101,726,098 (GRCm39)	S147R	unknown	Het
Lipn	T	C	19: 34,054,379 (GRCm39)	S206P	probably damaging	Het
Mcpt2	A	G	14: 56,281,136 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,715,429 (GRCm39)	E133G	probably benign	Het
Nuak1	T	C	10: 84,210,648 (GRCm39)	Y480C	probably damaging	Het
Oma1	C	T	4: 103,182,496 (GRCm39)	Q300*	probably null	Het
Pcnt	T	C	10: 76,217,198 (GRCm39)	E2161G	probably damaging	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Ptdss1	T	A	13: 67,135,914 (GRCm39)	C390*	probably null	Het
Sars1	A	C	3: 108,335,582 (GRCm39)	F389V	possibly damaging	Het
Sec31b	C	T	19: 44,512,945 (GRCm39)	V515M	probably damaging	Het
Syt3	A	G	7: 44,048,571 (GRCm39)	E587G	probably benign	Het
Tjp2	T	C	19: 24,099,636 (GRCm39)	E417G	possibly damaging	Het
Tmem63b	A	G	17: 45,977,041 (GRCm39)	F442S	possibly damaging	Het
Togaram1	A	G	12: 65,029,472 (GRCm39)	D965G	possibly damaging	Het
Zmynd10	T	C	9: 107,425,882 (GRCm39)	V72A	probably damaging	Het

Other mutations in Dpy19l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Dpy19l1	APN	9	24,393,226 (GRCm39)	missense	probably damaging	0.99
IGL00788:Dpy19l1	APN	9	24,373,864 (GRCm39)	splice site	probably benign
IGL00959:Dpy19l1	APN	9	24,334,493 (GRCm39)	splice site	probably null
IGL01646:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01647:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01713:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01715:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01743:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01912:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL02417:Dpy19l1	APN	9	24,386,682 (GRCm39)	missense	possibly damaging	0.48
IGL02629:Dpy19l1	APN	9	24,350,009 (GRCm39)	splice site	probably benign
IGL02677:Dpy19l1	APN	9	24,396,368 (GRCm39)	missense	probably damaging	1.00
IGL02949:Dpy19l1	APN	9	24,332,476 (GRCm39)	missense	probably benign	0.44
IGL03067:Dpy19l1	APN	9	24,349,956 (GRCm39)	missense	probably benign	0.00
G1Funyon:Dpy19l1	UTSW	9	24,396,407 (GRCm39)	splice site	probably benign
R0066:Dpy19l1	UTSW	9	24,325,705 (GRCm39)	missense	possibly damaging	0.95
R0207:Dpy19l1	UTSW	9	24,365,187 (GRCm39)	missense	probably damaging	1.00
R0462:Dpy19l1	UTSW	9	24,325,645 (GRCm39)	missense	probably benign	0.01
R0544:Dpy19l1	UTSW	9	24,396,406 (GRCm39)	splice site	probably benign
R0838:Dpy19l1	UTSW	9	24,343,727 (GRCm39)	missense	probably damaging	0.98
R1114:Dpy19l1	UTSW	9	24,336,072 (GRCm39)	missense	probably benign	0.30
R1546:Dpy19l1	UTSW	9	24,386,680 (GRCm39)	missense	probably damaging	0.98
R1767:Dpy19l1	UTSW	9	24,373,880 (GRCm39)	missense	probably benign	0.35
R1926:Dpy19l1	UTSW	9	24,385,120 (GRCm39)	missense	probably benign
R1933:Dpy19l1	UTSW	9	24,345,683 (GRCm39)	missense	probably damaging	0.99
R2046:Dpy19l1	UTSW	9	24,334,455 (GRCm39)	missense	probably damaging	0.98
R2101:Dpy19l1	UTSW	9	24,393,331 (GRCm39)	missense	probably damaging	0.99
R4083:Dpy19l1	UTSW	9	24,396,344 (GRCm39)	missense	possibly damaging	0.86
R4565:Dpy19l1	UTSW	9	24,343,684 (GRCm39)	missense	probably null	1.00
R4649:Dpy19l1	UTSW	9	24,393,350 (GRCm39)	missense	possibly damaging	0.94
R4652:Dpy19l1	UTSW	9	24,393,350 (GRCm39)	missense	possibly damaging	0.94
R4653:Dpy19l1	UTSW	9	24,393,350 (GRCm39)	missense	possibly damaging	0.94
R4669:Dpy19l1	UTSW	9	24,343,664 (GRCm39)	missense	possibly damaging	0.94
R4746:Dpy19l1	UTSW	9	24,361,966 (GRCm39)	missense	probably benign	0.29
R4769:Dpy19l1	UTSW	9	24,337,444 (GRCm39)	missense	probably damaging	0.99
R4785:Dpy19l1	UTSW	9	24,336,119 (GRCm39)	missense	probably damaging	1.00
R5177:Dpy19l1	UTSW	9	24,349,924 (GRCm39)	critical splice donor site	probably null
R5466:Dpy19l1	UTSW	9	24,325,684 (GRCm39)	missense	probably damaging	0.99
R5707:Dpy19l1	UTSW	9	24,325,563 (GRCm39)	makesense	probably null
R6265:Dpy19l1	UTSW	9	24,343,667 (GRCm39)	missense	possibly damaging	0.88
R6266:Dpy19l1	UTSW	9	24,350,442 (GRCm39)	missense	probably damaging	0.99
R6290:Dpy19l1	UTSW	9	24,373,896 (GRCm39)	missense	probably damaging	1.00
R6380:Dpy19l1	UTSW	9	24,393,341 (GRCm39)	nonsense	probably null
R6478:Dpy19l1	UTSW	9	24,361,992 (GRCm39)	missense	possibly damaging	0.88
R6581:Dpy19l1	UTSW	9	24,359,160 (GRCm39)	missense	possibly damaging	0.68
R6756:Dpy19l1	UTSW	9	24,385,080 (GRCm39)	missense	probably damaging	0.99
R6773:Dpy19l1	UTSW	9	24,352,068 (GRCm39)	missense	probably damaging	0.97
R6795:Dpy19l1	UTSW	9	24,414,158 (GRCm39)	missense	possibly damaging	0.53
R6796:Dpy19l1	UTSW	9	24,414,158 (GRCm39)	missense	possibly damaging	0.53
R7060:Dpy19l1	UTSW	9	24,334,419 (GRCm39)	missense	possibly damaging	0.88
R7862:Dpy19l1	UTSW	9	24,386,730 (GRCm39)	missense	probably damaging	1.00
R7921:Dpy19l1	UTSW	9	24,333,634 (GRCm39)	missense	possibly damaging	0.85
R8095:Dpy19l1	UTSW	9	24,396,160 (GRCm39)	splice site	probably null
R8192:Dpy19l1	UTSW	9	24,362,023 (GRCm39)	missense	possibly damaging	0.75
R8248:Dpy19l1	UTSW	9	24,414,191 (GRCm39)	missense	probably benign
R8296:Dpy19l1	UTSW	9	24,414,372 (GRCm39)	missense	probably benign	0.00
R8301:Dpy19l1	UTSW	9	24,396,407 (GRCm39)	splice site	probably benign
R8307:Dpy19l1	UTSW	9	24,414,297 (GRCm39)	missense	probably benign
R8328:Dpy19l1	UTSW	9	24,386,686 (GRCm39)	nonsense	probably null
R8975:Dpy19l1	UTSW	9	24,359,102 (GRCm39)	missense	probably damaging	0.98
R9283:Dpy19l1	UTSW	9	24,332,412 (GRCm39)	nonsense	probably null
R9661:Dpy19l1	UTSW	9	24,386,730 (GRCm39)	missense	probably damaging	1.00
X0025:Dpy19l1	UTSW	9	24,343,676 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGGATAGGTTAGGCAAACAGTCG -3'
(R):5'- CCTTTGTGCCAAAGCAGTCTGTG -3'

Sequencing Primer
(F):5'- GTACTTTGCCCCTAACATAAGAGTC -3'
(R):5'- CCAAAGCAGTCTGTGTTGGTG -3'

Posted On

2013-09-30