Mutagenetix > Incidental Mutation

Incidental Mutation 'R1632:Enpp4'

172881

Institutional Source

Beutler Lab

Gene Symbol

Enpp4

Ensembl Gene

ENSMUSG00000023961

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 4

Synonyms

LOC224794, 4933413N07Rik

MMRRC Submission

039669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R1632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44407199-44416700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44410544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 344 (S344Y)

Ref Sequence

ENSEMBL: ENSMUSP00000114429 (fasta)

Gene Model

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

AlphaFold

Q8BTJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000024757
AA Change: S344Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: S344Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143137
AA Change: S344Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: S344Y

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap28	A	T	17: 68,156,069 (GRCm39)	Y696N	probably damaging	Het
Cachd1	A	G	4: 100,824,169 (GRCm39)	T537A	probably benign	Het
Capn15	A	T	17: 26,179,639 (GRCm39)	F841Y	probably damaging	Het
Card10	G	A	15: 78,675,420 (GRCm39)	R396*	probably null	Het
Chd9	A	T	8: 91,683,335 (GRCm39)	K592*	probably null	Het
Cyp2j8	T	A	4: 96,335,561 (GRCm39)	H411L	probably benign	Het
Dhcr24	G	T	4: 106,443,148 (GRCm39)	M394I	probably benign	Het
Dhrs3	T	C	4: 144,620,116 (GRCm39)	V11A	probably benign	Het
Dync1li2	A	T	8: 105,164,123 (GRCm39)	I134N	probably damaging	Het
Ephb3	T	C	16: 21,031,687 (GRCm39)	S14P	probably benign	Het
Fancm	T	G	12: 65,177,105 (GRCm39)	I1983S	probably damaging	Het
Fndc1	T	C	17: 7,992,032 (GRCm39)	T555A	unknown	Het
Gemin4	A	T	11: 76,101,815 (GRCm39)	M982K	probably benign	Het
Gtpbp2	A	G	17: 46,479,518 (GRCm39)	R590G	probably benign	Het
H2-M3	G	A	17: 37,582,054 (GRCm39)	R170H	probably benign	Het
Hoxa13	G	T	6: 52,236,917 (GRCm39)	N278K	probably damaging	Het
Hspb3	A	G	13: 113,799,589 (GRCm39)	V147A	probably benign	Het
Il6st	G	T	13: 112,640,866 (GRCm39)	D820Y	possibly damaging	Het
Kdm7a	A	G	6: 39,129,832 (GRCm39)	V448A	probably benign	Het
Kmt2b	T	C	7: 30,283,387 (GRCm39)	D991G	probably damaging	Het
Kri1	T	C	9: 21,193,507 (GRCm39)	D140G	possibly damaging	Het
Limk2	A	G	11: 3,296,250 (GRCm39)	L399P	probably damaging	Het
Lrrc9	T	A	12: 72,506,794 (GRCm39)		probably null	Het
Map2	C	T	1: 66,454,245 (GRCm39)	T1045M	possibly damaging	Het
Map4k5	T	C	12: 69,874,821 (GRCm39)	I321V	probably benign	Het
Minar1	T	A	9: 89,484,413 (GRCm39)	H328L	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh7b	A	G	2: 155,462,445 (GRCm39)	S383G	probably benign	Het
Nhsl3	A	G	4: 129,116,459 (GRCm39)	M735T	possibly damaging	Het
Nostrin	A	G	2: 69,006,078 (GRCm39)	K254R	probably benign	Het
Nphp1	G	T	2: 127,612,312 (GRCm39)	P212T	probably benign	Het
Or5ak20	A	T	2: 85,183,586 (GRCm39)	M228K	possibly damaging	Het
Pals1	T	A	12: 78,843,812 (GRCm39)	Y5*	probably null	Het
Pclo	A	C	5: 14,730,017 (GRCm39)		probably benign	Het
Phf19	G	A	2: 34,801,631 (GRCm39)	R60W	probably damaging	Het
Pou2af2	T	C	9: 51,201,702 (GRCm39)	D118G	probably damaging	Het
Psg18	G	A	7: 18,084,824 (GRCm39)	P91S	probably benign	Het
Rttn	C	T	18: 89,027,460 (GRCm39)	T525I	probably benign	Het
Ryr1	T	C	7: 28,793,686 (GRCm39)	M1268V	probably benign	Het
Slc25a2	T	C	18: 37,770,740 (GRCm39)	E263G	possibly damaging	Het
Slc32a1	C	T	2: 158,455,810 (GRCm39)	A155V	possibly damaging	Het
Slc6a19	A	T	13: 73,838,027 (GRCm39)		probably null	Het
Socs4	A	G	14: 47,527,034 (GRCm39)		probably benign	Het
Tas2r118	A	G	6: 23,969,260 (GRCm39)	I267T	probably benign	Het
Tpte	G	A	8: 22,839,363 (GRCm39)	C470Y	probably damaging	Het
Usp17la	A	T	7: 104,510,118 (GRCm39)	H241L	probably benign	Het
Vmn2r72	T	A	7: 85,401,000 (GRCm39)	I140F	probably benign	Het
Zfp329	T	C	7: 12,544,876 (GRCm39)	D216G	possibly 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
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
R8135:Enpp4	UTSW	17	44,412,226 (GRCm39)	missense	probably benign	0.00
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'- GGATGCTCTGCTCCGCATGAATATC -3'
(R):5'- TGTTTAGTGCAGCCAGCCAGAACC -3'

Sequencing Primer
(F):5'- TCTGGGAGATTAATGCACCACTG -3'
(R):5'- CCAGCCAGAACCTTAATGGATG -3'

Posted On

2014-04-24