Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Nudt21'

596326

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

045793-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94746031-94763667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94749461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 202 (Y202N)

Ref Sequence

ENSEMBL: ENSMUSP00000034204 (fasta)

Gene Model

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

AlphaFold

Q9CQF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034204
AA Change: Y202N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754
AA Change: Y202N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212622

Predicted Effect

probably damaging
Transcript: ENSMUST00000212911
AA Change: Y76N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212981
AA Change: Y193N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.9571

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,463,566 (GRCm39)		probably null	Het
Akap3	T	A	6: 126,851,065 (GRCm39)	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,254,470 (GRCm39)	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,250,728 (GRCm39)	E493G	possibly damaging	Het
Arvcf	G	A	16: 18,214,966 (GRCm39)	R119Q	probably damaging	Het
Asmt	T	C	X: 169,110,175 (GRCm39)	F228S	probably damaging	Het
Atp2c2	T	A	8: 120,469,134 (GRCm39)	V349E	probably damaging	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,558,332 (GRCm39)	K85N	probably damaging	Het
Ccr6	G	A	17: 8,463,926 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Ddb1	C	T	19: 10,603,338 (GRCm39)	A882V	possibly damaging	Het
Epha4	C	T	1: 77,357,649 (GRCm39)	G783D	probably damaging	Het
Ephb1	T	A	9: 101,861,302 (GRCm39)	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,530,331 (GRCm39)	Y93*	probably null	Het
Fcgbpl1	T	A	7: 27,856,498 (GRCm39)	V2095E	probably damaging	Het
Gak	A	C	5: 108,764,874 (GRCm39)	L84R	probably benign	Het
Gm5458	A	T	14: 19,649,805 (GRCm39)		probably null	Het
Gpatch3	C	G	4: 133,302,407 (GRCm39)	Q113E	probably benign	Het
Gpld1	C	A	13: 25,159,709 (GRCm39)	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,324,467 (GRCm39)	P234S	unknown	Het
Itga6	G	A	2: 71,652,787 (GRCm39)	V217I	probably benign	Het
Kdm7a	A	T	6: 39,121,338 (GRCm39)	N872K	probably benign	Het
Klhl14	G	T	18: 21,691,191 (GRCm39)	Y446*	probably null	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lct	A	T	1: 128,226,430 (GRCm39)	W1320R	probably benign	Het
Lrp2	T	C	2: 69,326,782 (GRCm39)	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,699,649 (GRCm39)	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,400,003 (GRCm39)		probably null	Het
Mettl15	T	C	2: 108,967,723 (GRCm39)	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 39,879,274 (GRCm39)	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,164,235 (GRCm39)	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,280,150 (GRCm39)	Q803*	probably null	Het
Mtor	A	C	4: 148,623,195 (GRCm39)	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,778,749 (GRCm39)	Y2581F	unknown	Het
Myo7b	A	T	18: 32,147,257 (GRCm39)	Y95*	probably null	Het
Nf1	A	G	11: 79,436,314 (GRCm39)	I1985V	probably benign	Het
Noxred1	G	A	12: 87,268,136 (GRCm39)	Q332*	probably null	Het
Odad2	A	G	18: 7,217,890 (GRCm39)	L608P	probably damaging	Het
Or1j16	A	T	2: 36,530,632 (GRCm39)	I194F	probably benign	Het
Pik3c2a	A	T	7: 115,955,488 (GRCm39)	S1176T	probably damaging	Het
Pramel14	A	C	4: 143,718,526 (GRCm39)	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rbmxl1	A	G	8: 79,232,252 (GRCm39)	S364P	unknown	Het
Rnf24	T	A	2: 131,145,416 (GRCm39)	K131N	probably benign	Het
Scai	T	A	2: 39,013,034 (GRCm39)	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,881,297 (GRCm39)	R49G	probably benign	Het
Slc12a7	A	G	13: 73,936,796 (GRCm39)	E152G	probably benign	Het
Slc22a27	A	T	19: 7,874,127 (GRCm39)	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,856 (GRCm39)	A427S	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stk16	G	T	1: 75,187,995 (GRCm39)	C8F	probably damaging	Het
Syne2	T	C	12: 75,989,622 (GRCm39)	C1834R	probably damaging	Het
Tie1	C	T	4: 118,336,054 (GRCm39)		probably null	Het
Timp2	A	G	11: 118,194,721 (GRCm39)	I156T	probably damaging	Het
Tmem163	A	G	1: 127,419,347 (GRCm39)	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,481,588 (GRCm39)	M112L	probably benign	Het
Trank1	G	T	9: 111,195,080 (GRCm39)	E1035*	probably null	Het
Trim5	C	T	7: 103,928,771 (GRCm39)	V57M	probably damaging	Het
Ubr3	A	G	2: 69,821,910 (GRCm39)	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,403,634 (GRCm39)	S271R	probably damaging	Het
Xpo5	G	A	17: 46,547,016 (GRCm39)		probably null	Het
Zfp592	A	T	7: 80,674,941 (GRCm39)	H635L	probably damaging	Het
Zfp791	A	T	8: 85,838,844 (GRCm39)	N62K	probably benign	Het
Zfp998	A	G	13: 66,581,738 (GRCm39)		probably null	Het
Zmynd11	G	A	13: 9,745,175 (GRCm39)	T248M	probably damaging	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
R7312:Nudt21	UTSW	8	94,746,227 (GRCm39)	missense	probably benign	0.00
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'- GAGTCTTCCGGTACTTTTAAGCATG -3'
(R):5'- AAAAGATCCTGCTGCTACCCTC -3'

Sequencing Primer
(F):5'- CCGGTACTTTTAAGCATGTTTTAATC -3'
(R):5'- AGCCTCTGTCCTGCACATG -3'

Posted On

2019-11-26