Mutagenetix > Incidental Mutation

Incidental Mutation 'R6795:Dpy19l1'

532981

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l1

Ensembl Gene

ENSMUSG00000043067

Gene Name

dpy-19 like C-mannosyltransferase 1

Synonyms

1100001I19Rik

MMRRC Submission

044908-MU

Accession Numbers

Essential gene?

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

Stock #

R6795 (G1)

Quality Score

118.094

Status

Not validated

Chromosome

Chromosomal Location

24323074-24414436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24414158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 90 (R90L)

Ref Sequence

ENSEMBL: ENSMUSP00000129575 (fasta)

Gene Model

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

AlphaFold

A6X919

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142064
AA Change: R90L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: R90L

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

possibly damaging
Transcript: ENSMUST00000170356
AA Change: R90L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: R90L

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	A	4: 73,869,065 (GRCm39)		probably benign	Het
A2m	T	A	6: 121,625,281 (GRCm39)		probably null	Het
Aadacl2fm3	A	T	3: 59,776,357 (GRCm39)	Y176F	probably damaging	Het
Agps	A	G	2: 75,724,402 (GRCm39)	D472G	probably damaging	Het
Amfr	A	G	8: 94,726,961 (GRCm39)	V158A	probably benign	Het
Birc2	A	G	9: 7,833,873 (GRCm39)	Y203H	possibly damaging	Het
Calr4	A	G	4: 109,101,985 (GRCm39)	N147D	probably damaging	Het
Cd8b1	T	A	6: 71,303,324 (GRCm39)	L133Q	probably damaging	Het
Cenpn	T	A	8: 117,652,887 (GRCm39)	S19R	probably benign	Het
Ces2g	A	G	8: 105,694,449 (GRCm39)	N494S	probably damaging	Het
Ces3a	G	A	8: 105,777,228 (GRCm39)	G184R	possibly damaging	Het
Dlgap1	C	A	17: 71,125,069 (GRCm39)	A614E	possibly damaging	Het
Ephb2	A	C	4: 136,400,646 (GRCm39)	L544R	possibly damaging	Het
Fanca	T	A	8: 124,045,232 (GRCm39)	T21S	probably benign	Het
Fsip2	A	T	2: 82,811,303 (GRCm39)	M2541L	probably benign	Het
Galnt2	T	C	8: 125,070,175 (GRCm39)	F530S	probably damaging	Het
Gm19410	G	A	8: 36,262,676 (GRCm39)	C871Y	probably damaging	Het
Gmds	C	T	13: 32,418,335 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,841,270 (GRCm39)	V620A	possibly damaging	Het
Myo18b	T	C	5: 112,994,230 (GRCm39)	T908A	probably damaging	Het
Or5d18	C	T	2: 87,864,668 (GRCm39)	V272I	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcf11	A	C	7: 92,306,786 (GRCm39)	N1127K	probably benign	Het
Plec	T	C	15: 76,064,338 (GRCm39)	K1979E	probably damaging	Het
Prpf38b	T	C	3: 108,811,980 (GRCm39)		probably benign	Het
Sema5b	T	A	16: 35,478,941 (GRCm39)	C588*	probably null	Het
Skint5	C	T	4: 113,524,420 (GRCm39)	E854K	unknown	Het
Slc25a42	A	G	8: 70,641,040 (GRCm39)	Y187H	probably damaging	Het
Slc30a5	A	T	13: 100,953,577 (GRCm39)	D182E	probably damaging	Het
Synrg	A	G	11: 83,910,740 (GRCm39)	I1047V	probably damaging	Het
Tbc1d31	A	G	15: 57,815,102 (GRCm39)	D593G	probably damaging	Het
Thnsl1	C	T	2: 21,218,303 (GRCm39)	Q165*	probably null	Het
Ttc6	T	C	12: 57,751,199 (GRCm39)	F1364L	probably damaging	Het
Ttf2	G	A	3: 100,866,578 (GRCm39)	A518V	probably damaging	Het
Vmn1r6	A	G	6: 56,979,422 (GRCm39)	Y28C	possibly damaging	Het
Zzef1	A	G	11: 72,741,485 (GRCm39)	E709G	probably benign	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
R0749:Dpy19l1	UTSW	9	24,373,880 (GRCm39)	missense	probably benign	0.35
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
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'- ATGCAGGCAGAATCCAGTCTC -3'
(R):5'- TATGCCAAGATGGTCCTGC -3'

Sequencing Primer
(F):5'- AGCCGAGCAGCTGTTGATCTC -3'
(R):5'- AAGATGGTCCTGCAGGCG -3'

Posted On

2018-08-29