Mutagenetix > Incidental Mutation

Incidental Mutation 'R8135:Enpp4'

632236

Institutional Source

Beutler Lab

Gene Symbol

Enpp4

Ensembl Gene

ENSMUSG00000023961

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 4

Synonyms

LOC224794, 4933413N07Rik

MMRRC Submission

067563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R8135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44407199-44416700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44412226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 328 (T328A)

Ref Sequence

ENSEMBL: ENSMUSP00000024757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024757] [ENSMUST00000143137]

AlphaFold

Q8BTJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000024757
AA Change: T328A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: T328A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143137
AA Change: T328A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: T328A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	5.7e-80	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,674,712 (GRCm39)	I420V	probably benign	Het
Adam7	A	T	14: 68,754,022 (GRCm39)	M359K	probably damaging	Het
Adra1d	C	T	2: 131,403,692 (GRCm39)	A133T	probably damaging	Het
B3galnt2	T	A	13: 14,145,454 (GRCm39)		probably null	Het
Camk1g	A	G	1: 193,036,335 (GRCm39)	V175A	possibly damaging	Het
Cfi	A	G	3: 129,648,649 (GRCm39)	N178D	probably benign	Het
Csf2rb	T	A	15: 78,232,319 (GRCm39)	I542K	possibly damaging	Het
Ctsz	T	C	2: 174,270,946 (GRCm39)	T183A	probably benign	Het
Dhx8	A	G	11: 101,629,090 (GRCm39)	D213G	unknown	Het
Dph7	T	C	2: 24,859,556 (GRCm39)	I271T	probably benign	Het
Edem1	G	T	6: 108,806,022 (GRCm39)	E108*	probably null	Het
Fasl	A	G	1: 161,614,697 (GRCm39)	V122A	probably benign	Het
Fut2	T	C	7: 45,300,566 (GRCm39)	T69A	probably damaging	Het
Gaa	T	C	11: 119,169,210 (GRCm39)		probably null	Het
Galnt5	T	A	2: 57,904,880 (GRCm39)	V481D	probably damaging	Het
Gsdma2	A	G	11: 98,542,872 (GRCm39)	I211V	probably benign	Het
H2-M10.4	T	C	17: 36,772,662 (GRCm39)	T107A	probably benign	Het
Iqcg	T	A	16: 32,849,394 (GRCm39)	K297N	probably benign	Het
Map2	A	G	1: 66,452,828 (GRCm39)	T573A	probably damaging	Het
Nhsl1	A	G	10: 18,407,180 (GRCm39)	D1438G	probably damaging	Het
Nipal2	A	T	15: 34,678,719 (GRCm39)	Y41N	possibly damaging	Het
Obscn	A	T	11: 58,922,703 (GRCm39)	S5878T	possibly damaging	Het
Pde6a	T	C	18: 61,418,996 (GRCm39)	F791L	probably damaging	Het
Phip	A	T	9: 82,812,427 (GRCm39)	N308K	probably benign	Het
Pigc	A	G	1: 161,798,134 (GRCm39)	K39E	possibly damaging	Het
Robo2	T	G	16: 73,730,048 (GRCm39)	I1050L	probably benign	Het
Rps2	A	G	17: 24,939,409 (GRCm39)	K54E	probably benign	Het
Set	T	A	2: 29,959,439 (GRCm39)	D137E	probably benign	Het
Sipa1l1	A	G	12: 82,388,075 (GRCm39)	I100M	probably benign	Het
Spdye4b	T	C	5: 143,180,777 (GRCm39)	V81A	probably damaging	Het
Tbc1d2	T	C	4: 46,609,071 (GRCm39)	D722G	probably benign	Het
Tecpr1	T	A	5: 144,135,420 (GRCm39)	D1011V	probably damaging	Het
Unc80	A	T	1: 66,548,446 (GRCm39)	I573F	possibly damaging	Het
Vmn1r74	T	A	7: 11,581,530 (GRCm39)	C277S	probably benign	Het
Vwa1	T	A	4: 155,857,351 (GRCm39)	D149V	probably damaging	Het
Zfp397	T	A	18: 24,089,564 (GRCm39)	V23E	probably damaging	Het
Zmynd8	T	C	2: 165,654,346 (GRCm39)	D722G	probably damaging	Het

Other mutations in Enpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Enpp4	APN	17	44,410,494 (GRCm39)	missense	possibly damaging	0.56
IGL02150:Enpp4	APN	17	44,413,049 (GRCm39)	missense	probably benign	0.22
IGL02451:Enpp4	APN	17	44,412,315 (GRCm39)	missense	probably damaging	1.00
IGL02879:Enpp4	APN	17	44,412,841 (GRCm39)	missense	probably benign	0.00
R0005:Enpp4	UTSW	17	44,413,066 (GRCm39)	missense	probably benign	0.04
R0540:Enpp4	UTSW	17	44,410,386 (GRCm39)	missense	probably damaging	1.00
R0607:Enpp4	UTSW	17	44,410,386 (GRCm39)	missense	probably damaging	1.00
R0942:Enpp4	UTSW	17	44,412,772 (GRCm39)	nonsense	probably null
R1334:Enpp4	UTSW	17	44,413,259 (GRCm39)	missense	probably benign	0.02
R1632:Enpp4	UTSW	17	44,410,544 (GRCm39)	missense	probably damaging	0.99
R2567:Enpp4	UTSW	17	44,412,736 (GRCm39)	missense	probably damaging	0.97
R4272:Enpp4	UTSW	17	44,412,698 (GRCm39)	missense	probably benign	0.01
R4273:Enpp4	UTSW	17	44,412,698 (GRCm39)	missense	probably benign	0.01
R4750:Enpp4	UTSW	17	44,413,246 (GRCm39)	missense	probably damaging	1.00
R6267:Enpp4	UTSW	17	44,413,371 (GRCm39)	missense	probably benign	0.00
R6296:Enpp4	UTSW	17	44,413,371 (GRCm39)	missense	probably benign	0.00
R7180:Enpp4	UTSW	17	44,412,928 (GRCm39)	missense	probably benign	0.03
R8036:Enpp4	UTSW	17	44,413,136 (GRCm39)	missense	possibly damaging	0.81
R9168:Enpp4	UTSW	17	44,413,141 (GRCm39)	missense	probably damaging	0.99
R9209:Enpp4	UTSW	17	44,412,252 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCTCCAGACGGAAGAGTG -3'
(R):5'- TATATCTTGGCTTCCGAGTCAGC -3'

Sequencing Primer
(F):5'- TGTGGCCACAGTACACGG -3'
(R):5'- CGAGTCAGCCACCGTTTTC -3'

Posted On

2020-06-30