Mutagenetix > Incidental Mutation

Incidental Mutation 'R7312:Nudt21'

567676

Institutional Source

Beutler Lab

Gene Symbol

Nudt21

Ensembl Gene

ENSMUSG00000031754

Gene Name

nudix hydrolase 21

Synonyms

Cpsf5, 3110048P04Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 21, 5730530J16Rik, 25kDa

MMRRC Submission

045410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7312 (G1)

Quality Score

150.008

Status

Validated

Chromosome

Chromosomal Location

94746031-94763667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94746227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 157 (V157D)

Ref Sequence

ENSEMBL: ENSMUSP00000148485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034204] [ENSMUST00000212622] [ENSMUST00000212911] [ENSMUST00000212981]

AlphaFold

Q9CQF3

Predicted Effect

probably benign
Transcript: ENSMUST00000034204

SMART Domains

Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754

Domain	Start	End	E-Value	Type
Pfam:NUDIX_2	35	222	9.9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212622
AA Change: V157D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000212911

Predicted Effect

probably benign
Transcript: ENSMUST00000212981

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,969,021 (GRCm39)	S215P	probably benign	Het
Ano2	C	T	6: 126,016,460 (GRCm39)	Q998*	probably null	Het
Atg9a	A	T	1: 75,164,736 (GRCm39)	V76E	probably damaging	Het
Cacna1c	T	C	6: 119,034,172 (GRCm39)	I118M		Het
Cacna1g	T	A	11: 94,323,383 (GRCm39)	I1274F	probably damaging	Het
Cd300lg	C	T	11: 101,937,767 (GRCm39)	A199V	probably benign	Het
Cfap61	C	T	2: 145,887,390 (GRCm39)	R612*	probably null	Het
Cpeb4	A	T	11: 31,881,417 (GRCm39)	Y692F	probably damaging	Het
Dcun1d1	A	G	3: 35,951,940 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,398,579 (GRCm39)	M188K	probably benign	Het
Dmgdh	A	G	13: 93,845,354 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,330,652 (GRCm39)	M275K	probably benign	Het
Erp29	G	T	5: 121,583,392 (GRCm39)	A178D	probably benign	Het
Fbn1	T	C	2: 125,308,594 (GRCm39)	N156S	possibly damaging	Het
Frrs1	C	T	3: 116,675,426 (GRCm39)	T118I	probably damaging	Het
Frrs1l	A	G	4: 56,968,230 (GRCm39)	W181R	probably benign	Het
Gprc5b	C	A	7: 118,583,482 (GRCm39)	W129L	probably damaging	Het
Hoxc9	A	G	15: 102,890,593 (GRCm39)	H170R	probably benign	Het
Il12rb2	C	T	6: 67,333,617 (GRCm39)	D221N	probably benign	Het
Lmo1	T	C	7: 108,742,819 (GRCm39)	N28S	probably benign	Het
Lrrfip2	T	A	9: 111,006,525 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,400,130 (GRCm39)	F722I	probably damaging	Het
Mical1	T	C	10: 41,355,772 (GRCm39)		probably null	Het
Mtcl3	A	G	10: 29,073,240 (GRCm39)	Y844C	probably damaging	Het
Mtmr11	C	T	3: 96,071,855 (GRCm39)	T223M	possibly damaging	Het
Mup21	A	G	4: 62,068,468 (GRCm39)	V66A	probably benign	Het
Nav2	C	A	7: 49,111,672 (GRCm39)	A726D	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Numa1	T	C	7: 101,639,806 (GRCm39)	I52T	possibly damaging	Het
Obscn	T	C	11: 58,946,442 (GRCm39)	D4421G	probably benign	Het
Oog3	T	C	4: 143,886,801 (GRCm39)	I106M	probably benign	Het
Or10g9	A	T	9: 39,912,106 (GRCm39)	V139E	probably benign	Het
Or2g25	T	C	17: 37,970,403 (GRCm39)	T274A	possibly damaging	Het
Or2z9	T	C	8: 72,853,793 (GRCm39)	L63P	probably damaging	Het
Or51f1	T	A	7: 102,505,706 (GRCm39)	Y261F	probably damaging	Het
Or5w20	T	G	2: 87,726,755 (GRCm39)	C71G	possibly damaging	Het
Orai2	T	A	5: 136,179,437 (GRCm39)	I199F	probably damaging	Het
P2rx5	C	A	11: 73,055,692 (GRCm39)	L50M	probably damaging	Het
Pdia2	T	C	17: 26,416,634 (GRCm39)	E215G	possibly damaging	Het
Pds5a	A	T	5: 65,823,570 (GRCm39)	S74T	possibly damaging	Het
Phlpp2	A	G	8: 110,666,785 (GRCm39)	S1105G	probably damaging	Het
Pi4kb	T	A	3: 94,891,888 (GRCm39)	D189E	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pnlip	T	A	19: 58,670,134 (GRCm39)	V458D	probably damaging	Het
Ppm1l	G	A	3: 69,225,044 (GRCm39)	V49I	probably benign	Het
Prl3b1	T	A	13: 27,426,473 (GRCm39)	M1K	probably null	Het
Rad1	T	A	15: 10,493,367 (GRCm39)	C265S	probably benign	Het
Rnaset2b	C	T	17: 7,265,427 (GRCm39)	S237F	probably benign	Het
Rtl1	C	T	12: 109,561,672 (GRCm39)	A56T	unknown	Het
S1pr2	T	C	9: 20,879,238 (GRCm39)	I197V	probably benign	Het
Smyd4	A	G	11: 75,281,082 (GRCm39)	Q185R	probably benign	Het
Sox5	T	A	6: 144,100,759 (GRCm39)	T77S	probably benign	Het
Sox7	A	G	14: 64,185,291 (GRCm39)	Y109C	probably damaging	Het
Styxl2	C	T	1: 165,954,676 (GRCm39)	V25I	probably damaging	Het
Tln1	G	A	4: 43,545,922 (GRCm39)	R898C	probably damaging	Het
Tmprss11b	T	A	5: 86,812,173 (GRCm39)	E158V	probably damaging	Het
Tnpo3	C	A	6: 29,562,875 (GRCm39)	R614L	possibly damaging	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Zc3h12d	A	T	10: 7,743,345 (GRCm39)	M372L	probably benign	Het
Zfp28	G	T	7: 6,386,593 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,759 (GRCm39)	H231Q	probably damaging	Het
Zscan4b	A	G	7: 10,634,867 (GRCm39)	S459P	probably benign	Het

Other mutations in Nudt21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Nudt21	APN	8	94,746,329 (GRCm39)	nonsense	probably null
PIT4544001:Nudt21	UTSW	8	94,746,225 (GRCm39)	missense	unknown
R1172:Nudt21	UTSW	8	94,757,757 (GRCm39)	splice site	probably benign
R1576:Nudt21	UTSW	8	94,755,461 (GRCm39)	critical splice donor site	probably null
R6293:Nudt21	UTSW	8	94,755,506 (GRCm39)	missense	probably damaging	1.00
R6474:Nudt21	UTSW	8	94,746,282 (GRCm39)	missense	probably benign	0.02
R6961:Nudt21	UTSW	8	94,755,508 (GRCm39)	missense	probably benign
R7737:Nudt21	UTSW	8	94,749,461 (GRCm39)	missense	probably damaging	1.00
R7755:Nudt21	UTSW	8	94,749,493 (GRCm39)	missense	probably benign	0.33
R8539:Nudt21	UTSW	8	94,763,601 (GRCm39)	start gained	probably benign
R8894:Nudt21	UTSW	8	94,755,498 (GRCm39)	missense	probably damaging	1.00
R9103:Nudt21	UTSW	8	94,746,321 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGATCCTCGGCTCTAAGACTTTTC -3'
(R):5'- ATGTTTAACATGTCGGAAGGGG -3'

Sequencing Primer
(F):5'- AAGCTAATGAACACTGCC -3'
(R):5'- TTTAACATGTCGGAAGGGGAGAGATG -3'

Posted On

2019-06-26