Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Nsa2'

272337

Institutional Source

Beutler Lab

Gene Symbol

Nsa2

Ensembl Gene

ENSMUSG00000060739

Gene Name

NSA2 ribosome biogenesis homolog

Synonyms

Yr29, 5730427N09Rik, LNR42, Nsa2p

MMRRC Submission

040754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97265935-97274434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97272042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 60 (Q60K)

Ref Sequence

ENSEMBL: ENSMUSP00000073161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000073456] [ENSMUST00000160139] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000225410] [ENSMUST00000161929] [ENSMUST00000169863] [ENSMUST00000161913]

AlphaFold

Q9CR47

Predicted Effect

probably benign
Transcript: ENSMUST00000022170

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	66	349	9.9e-64	PFAM
Pfam:GTP_EFTU_D2	379	446	4.3e-8	PFAM
low complexity region	447	473	N/A	INTRINSIC
Pfam:EFG_II	482	556	3.9e-29	PFAM
EFG_IV	558	677	2.94e-17	SMART
EFG_C	679	766	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042084

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	324	4.6e-64	PFAM
Pfam:GTP_EFTU_D2	354	421	4.2e-8	PFAM
low complexity region	422	448	N/A	INTRINSIC
Pfam:EFG_II	457	531	3.7e-29	PFAM
EFG_IV	533	652	2.94e-17	SMART
EFG_C	654	741	1.9e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073456
AA Change: Q60K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073161
Gene: ENSMUSG00000060739
AA Change: Q60K

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8e	1	259	1.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160139

SMART Domains

Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	241	3.5e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161518

Predicted Effect

probably benign
Transcript: ENSMUST00000161639

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	1.2e-68	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	4.5e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	768	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161825

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	2.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	1.1e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	7.1e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	738	3.46e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161843

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225410
AA Change: Q60K

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000161929

SMART Domains

Protein: ENSMUSP00000125306
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	94	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169863

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161913

SMART Domains

Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	3.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	3.2e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	532	2.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224980

Meta Mutation Damage Score

0.0919

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Dnaja2	C	T	8: 86,267,015 (GRCm39)	G281R	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nfs1	A	G	2: 155,970,503 (GRCm39)	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Pde4dip	G	T	3: 97,622,868 (GRCm39)	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het

Other mutations in Nsa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Nsa2	APN	13	97,268,525 (GRCm39)	missense	probably damaging	1.00
R3783:Nsa2	UTSW	13	97,272,042 (GRCm39)	missense	possibly damaging	0.93
R3784:Nsa2	UTSW	13	97,272,042 (GRCm39)	missense	possibly damaging	0.93
R3786:Nsa2	UTSW	13	97,272,042 (GRCm39)	missense	possibly damaging	0.93
R3878:Nsa2	UTSW	13	97,268,542 (GRCm39)	missense	probably benign	0.05
R7466:Nsa2	UTSW	13	97,267,728 (GRCm39)	missense	probably benign	0.08
R9274:Nsa2	UTSW	13	97,272,170 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAGCAGATAGGCAGGGAC -3'
(R):5'- GTAAGCACATGAATACTGTCCAAG -3'

Sequencing Primer
(F):5'- GGTTCAGAATGTGCACAG -3'
(R):5'- CGACCACCTGTAATGAGATCTGATG -3'

Posted On

2015-03-25