Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Nudt13'

183645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nudt13

Ensembl Gene

ENSMUSG00000021809

Gene Name

nudix hydrolase 13

Synonyms

nudix (nucleoside diphosphate linked moiety X)-type motif 13, 4933433B15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

20344765-20367646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20356385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 103 (E103D)

Ref Sequence

ENSEMBL: ENSMUSP00000153266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022343] [ENSMUST00000223663] [ENSMUST00000223941] [ENSMUST00000224066] [ENSMUST00000224169] [ENSMUST00000224311] [ENSMUST00000225314]

AlphaFold

Q8JZU0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022343
AA Change: E103D

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022343
Gene: ENSMUSG00000021809
AA Change: E103D

Domain	Start	End	E-Value	Type
Pfam:NUDIX-like	46	162	2.3e-20	PFAM
Pfam:zf-NADH-PPase	164	195	4.5e-12	PFAM
Pfam:NUDIX	197	318	1.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223566

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223663
AA Change: E103D

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223941
AA Change: E103D

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000224066

Predicted Effect

probably damaging
Transcript: ENSMUST00000224169
AA Change: E103D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224311
AA Change: E103D

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225314
AA Change: E103D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225440

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,401,302 (GRCm39)		probably benign	Het
AI661453	C	A	17: 47,779,442 (GRCm39)		probably benign	Het
Arhgap29	G	A	3: 121,807,977 (GRCm39)	V1052I	probably benign	Het
Arhgef17	A	G	7: 100,577,862 (GRCm39)	S1029P	probably benign	Het
Arpc5l	T	C	2: 38,898,226 (GRCm39)	S7P	probably damaging	Het
Asf1b	A	G	8: 84,682,533 (GRCm39)	I26V	probably benign	Het
Cep95	T	C	11: 106,697,197 (GRCm39)	L240P	probably damaging	Het
Cnmd	A	G	14: 79,879,508 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,180,846 (GRCm39)	N783I	probably damaging	Het
Col6a2	C	A	10: 76,440,676 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,907,607 (GRCm39)		probably null	Het
Cry2	T	C	2: 92,254,977 (GRCm39)	E126G	probably benign	Het
Cxcl15	T	C	5: 90,942,467 (GRCm39)	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,465,952 (GRCm39)	D510G	probably benign	Het
Dct	A	G	14: 118,271,655 (GRCm39)	F392L	probably damaging	Het
Dgkz	A	G	2: 91,764,395 (GRCm39)		probably benign	Het
Dhrs7b	A	G	11: 60,721,541 (GRCm39)	I2V	probably benign	Het
Efnb3	A	T	11: 69,447,730 (GRCm39)		probably null	Het
Fbf1	T	A	11: 116,041,846 (GRCm39)	R565S	probably null	Het
Gimap5	T	C	6: 48,729,727 (GRCm39)	I99T	probably damaging	Het
Gm9912	A	G	3: 148,891,085 (GRCm39)	L16P	unknown	Het
Gpr17	A	G	18: 32,080,187 (GRCm39)	L292P	probably damaging	Het
Hdac10	C	T	15: 89,011,801 (GRCm39)	V129M	probably damaging	Het
Mfap3l	A	G	8: 61,124,498 (GRCm39)	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,537,457 (GRCm39)	S86R	probably damaging	Het
Mylk3	A	G	8: 86,085,890 (GRCm39)	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567 (GRCm39)	C745S	probably damaging	Het
Or10ag59	A	G	2: 87,405,806 (GRCm39)	Y126C	probably damaging	Het
Or1e35	A	G	11: 73,798,261 (GRCm39)	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,764,687 (GRCm39)	A324S	probably benign	Het
Pofut2	T	C	10: 77,096,515 (GRCm39)	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,286,240 (GRCm39)	D821G	probably damaging	Het
Rnf10	T	A	5: 115,389,161 (GRCm39)	K273*	probably null	Het
Slc4a9	A	G	18: 36,672,828 (GRCm39)	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,751,015 (GRCm39)	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,380,883 (GRCm39)	T159S	probably benign	Het
Tom1l1	G	A	11: 90,540,687 (GRCm39)	P327S	probably damaging	Het
Trim3	A	G	7: 105,267,689 (GRCm39)		probably benign	Het
Trpm6	A	C	19: 18,807,691 (GRCm39)		probably benign	Het
Ttc13	A	C	8: 125,415,621 (GRCm39)	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,713,118 (GRCm39)	V60E	probably damaging	Het
Ung	T	A	5: 114,274,447 (GRCm39)	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294 (GRCm39)	V30A	probably damaging	Het

Other mutations in Nudt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Nudt13	APN	14	20,356,418 (GRCm39)	missense	probably damaging	0.96
IGL00928:Nudt13	APN	14	20,366,231 (GRCm39)	missense	possibly damaging	0.89
R0324:Nudt13	UTSW	14	20,361,583 (GRCm39)	missense	probably damaging	0.99
R0363:Nudt13	UTSW	14	20,359,851 (GRCm39)	missense	probably damaging	0.96
R1738:Nudt13	UTSW	14	20,359,762 (GRCm39)	missense	probably damaging	1.00
R1902:Nudt13	UTSW	14	20,360,709 (GRCm39)	missense	probably damaging	1.00
R2071:Nudt13	UTSW	14	20,354,045 (GRCm39)	missense	probably damaging	1.00
R2418:Nudt13	UTSW	14	20,361,581 (GRCm39)	missense	probably damaging	1.00
R5512:Nudt13	UTSW	14	20,357,800 (GRCm39)	missense	probably damaging	1.00
R6144:Nudt13	UTSW	14	20,357,839 (GRCm39)	missense	probably benign	0.07
R7210:Nudt13	UTSW	14	20,359,852 (GRCm39)	missense	possibly damaging	0.93
R7470:Nudt13	UTSW	14	20,359,791 (GRCm39)	missense	probably damaging	1.00
R7921:Nudt13	UTSW	14	20,354,140 (GRCm39)	missense	probably benign	0.00
R9021:Nudt13	UTSW	14	20,360,772 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07