Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Nanp'

58713

Institutional Source

Beutler Lab

Gene Symbol

Nanp

Ensembl Gene

ENSMUSG00000053916

Gene Name

N-acetylneuraminic acid phosphatase

Synonyms

1600031M04Rik, Hdhd4

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R0622 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

150871605-150881299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150881164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 28 (M28T)

Ref Sequence

ENSEMBL: ENSMUSP00000063895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066640] [ENSMUST00000128627]

AlphaFold

Q9CPT3

Predicted Effect

probably benign
Transcript: ENSMUST00000066640
AA Change: M28T

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

SMART Domains

Protein: ENSMUSP00000063895
Gene: ENSMUSG00000053916
AA Change: M28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	6	202	1.3e-16	PFAM
Pfam:HAD_2	9	208	8.2e-22	PFAM
Pfam:Hydrolase_like	162	233	1.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128627

SMART Domains

Protein: ENSMUSP00000121872
Gene: ENSMUSG00000068115

Domain	Start	End	E-Value	Type
SCOP:d1c07a_	3	76	3e-7	SMART
PDB:2PMY\|B	10	75	1e-6	PDB
Blast:EFh	12	40	4e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140124

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	A	13: 30,565,664 (GRCm39)	M243K	probably benign	Het
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,721,547 (GRCm39)	F83L	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Gys1	A	T	7: 45,089,419 (GRCm39)	T193S	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or2t44	T	C	11: 58,677,167 (GRCm39)	S36P	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Proser1	A	G	3: 53,385,281 (GRCm39)	S388G	probably benign	Het
Ralgps1	G	A	2: 33,064,459 (GRCm39)	R238*	probably null	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Stk32c	T	C	7: 138,768,026 (GRCm39)	D85G	probably benign	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	probably benign	Het

Other mutations in Nanp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1465:Nanp	UTSW	2	150,872,749 (GRCm39)	missense	probably benign
R1465:Nanp	UTSW	2	150,872,749 (GRCm39)	missense	probably benign
R7612:Nanp	UTSW	2	150,881,158 (GRCm39)	missense	probably null	0.19
R7728:Nanp	UTSW	2	150,872,835 (GRCm39)	missense	possibly damaging	0.66
R9167:Nanp	UTSW	2	150,872,728 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCATTTTATGTGCCGAGGGTCTCAG -3'
(R):5'- CAAGCCATTAACGGAGAGGACCATC -3'

Sequencing Primer
(F):5'- ATGTAGGTTAAGTCCAGGCCC -3'
(R):5'- CGCGCACCCTATAAAATTTAGTGTC -3'

Posted On

2013-07-11