Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Nol4'

481405

Institutional Source

Beutler Lab

Gene Symbol

Nol4

Ensembl Gene

ENSMUSG00000041923

Gene Name

nucleolar protein 4

Synonyms

4930568N03Rik, 1700013J13Rik, LOC383304

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R5980 (G1)

Quality Score

175.009

Status

Validated

Chromosome

Chromosomal Location

22693181-23041653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22952201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 52 (Q52L)

Ref Sequence

ENSEMBL: ENSMUSP00000080150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081423] [ENSMUST00000097651] [ENSMUST00000164186] [ENSMUST00000164893] [ENSMUST00000165323]

AlphaFold

P60954

Predicted Effect

probably damaging
Transcript: ENSMUST00000081423
AA Change: Q52L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: Q52L

Domain	Start	End	E-Value	Type
low complexity region	139	155	N/A	INTRINSIC
low complexity region	199	210	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC
low complexity region	487	506	N/A	INTRINSIC
low complexity region	513	523	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097651
AA Change: Q125L

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: Q125L

Domain	Start	End	E-Value	Type
low complexity region	212	228	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC
low complexity region	382	393	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097652

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164186
AA Change: Q125L

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: Q125L

Domain	Start	End	E-Value	Type
low complexity region	212	228	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC
low complexity region	382	393	N/A	INTRINSIC
low complexity region	560	579	N/A	INTRINSIC
low complexity region	586	596	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164893
AA Change: Q125L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: Q125L

Domain	Start	End	E-Value	Type
low complexity region	212	228	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC
low complexity region	382	393	N/A	INTRINSIC
low complexity region	496	515	N/A	INTRINSIC
low complexity region	522	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165323
AA Change: Q11L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125860
Gene: ENSMUSG00000041923
AA Change: Q11L

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC

Meta Mutation Damage Score

0.0690

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,567,055	N508D	possibly damaging	Het
Ago1	C	T	4: 126,460,569		probably benign	Het
Apol6	A	T	15: 77,051,019	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,356,269	T33A	probably benign	Het
Atg7	C	A	6: 114,680,236	F132L	possibly damaging	Het
Cep104	C	A	4: 153,988,473	A396E	probably benign	Het
Cers4	T	A	8: 4,518,269	C107*	probably null	Het
Cntn6	T	C	6: 104,848,132	S878P	probably damaging	Het
Dnah6	T	C	6: 73,181,722	K633E	probably benign	Het
Dst	T	A	1: 34,182,891	I2592K	probably benign	Het
Ep400	G	A	5: 110,733,729		probably benign	Het
Fbn1	A	G	2: 125,315,404	C2320R	probably damaging	Het
Gm17677	A	C	9: 35,741,615	D51A	probably damaging	Het
Gpi1	A	G	7: 34,228,926		probably null	Het
Gse1	T	G	8: 120,229,637		probably benign	Het
Hid1	G	A	11: 115,350,948	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,265,295	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,680,589	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,519,025	V5A	probably benign	Het
Irgq	G	A	7: 24,533,345	G204S	probably damaging	Het
Kansl1	T	C	11: 104,343,637	K681R	possibly damaging	Het
Kcnv1	C	A	15: 45,109,414	V358L	probably damaging	Het
Lrp2	A	T	2: 69,535,005	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,137,908	D155V	probably damaging	Het
Magel2	A	T	7: 62,380,596	I1083F	unknown	Het
Mta3	T	A	17: 83,708,405	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,604,151	I423T	probably damaging	Het
Mup11	A	G	4: 60,660,888	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,911,096	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509	Q72P	possibly damaging	Het
Nrcam	T	C	12: 44,571,633	V808A	probably damaging	Het
Olfr1058	A	T	2: 86,385,797	L207*	probably null	Het
Olfr9	A	G	10: 128,990,440	H176R	probably damaging	Het
Olfr993	A	T	2: 85,414,165	F238Y	probably damaging	Het
Pik3c2b	C	A	1: 133,088,308	D869E	probably benign	Het
Pom121l2	T	C	13: 21,983,376	S606P	probably damaging	Het
Prdm15	G	A	16: 97,812,570	R517*	probably null	Het
Ralgapa1	T	A	12: 55,770,616		probably null	Het
Saraf	T	A	8: 34,165,387	F207I	probably benign	Het
Sema6d	A	G	2: 124,664,708	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,201,972	L14M	unknown	Het
Sidt1	A	T	16: 44,263,312	C485*	probably null	Het
Sptbn4	A	G	7: 27,372,171	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,980,408	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Ticrr	G	A	7: 79,660,955	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,784,598	I820F	probably benign	Het
Trafd1	A	G	5: 121,373,457	Y433H	probably damaging	Het
Trim68	A	G	7: 102,678,831	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,865,056	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,478,792	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,441,362	I457V	probably benign	Het

Other mutations in Nol4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Nol4	APN	18	22823412	missense	probably benign	0.15
IGL00677:Nol4	APN	18	22921867	missense	probably damaging	1.00
IGL01153:Nol4	APN	18	22769793	missense	probably damaging	1.00
IGL01400:Nol4	APN	18	22823498	missense	probably damaging	0.99
IGL02006:Nol4	APN	18	22921918	missense	probably damaging	1.00
IGL02342:Nol4	APN	18	22770869	splice site	probably benign
IGL02501:Nol4	APN	18	22823341	missense	probably damaging	1.00
PIT4378001:Nol4	UTSW	18	23039876	missense	probably damaging	1.00
R0096:Nol4	UTSW	18	22921858	missense	possibly damaging	0.95
R0097:Nol4	UTSW	18	22719141	missense	probably benign	0.23
R0097:Nol4	UTSW	18	22719141	missense	probably benign	0.23
R1257:Nol4	UTSW	18	22770681	missense	probably damaging	1.00
R1793:Nol4	UTSW	18	22769821	missense	probably damaging	1.00
R2101:Nol4	UTSW	18	22823409	missense	probably damaging	1.00
R2357:Nol4	UTSW	18	23039910	missense	probably benign	0.01
R2414:Nol4	UTSW	18	22823572	critical splice acceptor site	probably null
R2427:Nol4	UTSW	18	22850698	intron	probably benign
R3713:Nol4	UTSW	18	23039937	missense	probably damaging	1.00
R3734:Nol4	UTSW	18	22770864	splice site	probably benign
R3803:Nol4	UTSW	18	22694955	missense	probably damaging	1.00
R4458:Nol4	UTSW	18	22751995	missense	probably damaging	0.99
R4736:Nol4	UTSW	18	22718993	missense	probably damaging	1.00
R4774:Nol4	UTSW	18	22912626	missense	probably damaging	0.96
R4795:Nol4	UTSW	18	22921887	missense	probably damaging	1.00
R5245:Nol4	UTSW	18	22695122	makesense	probably null
R6372:Nol4	UTSW	18	23038556	critical splice donor site	probably null
R6485:Nol4	UTSW	18	22770793	missense	probably damaging	1.00
R6614:Nol4	UTSW	18	22920856	missense	probably damaging	1.00
R6809:Nol4	UTSW	18	22920825	missense	probably damaging	1.00
R6877:Nol4	UTSW	18	22719129	missense	probably benign	0.06
R7269:Nol4	UTSW	18	23039789	missense	probably benign
R7310:Nol4	UTSW	18	22770744	missense
R7720:Nol4	UTSW	18	23040023	missense	probably benign	0.16
R7753:Nol4	UTSW	18	23038602	start codon destroyed	probably benign	0.15
R7897:Nol4	UTSW	18	22823343	missense
R7974:Nol4	UTSW	18	22719025	nonsense	probably null
R8297:Nol4	UTSW	18	23040012	missense	probably damaging	0.99
R8303:Nol4	UTSW	18	23040174	unclassified	probably benign
R8466:Nol4	UTSW	18	23038581	missense	probably benign	0.03
R8985:Nol4	UTSW	18	22952237	missense	probably damaging	1.00
R9064:Nol4	UTSW	18	22770793	missense
R9296:Nol4	UTSW	18	22823331	missense
R9442:Nol4	UTSW	18	22769842	missense	probably damaging	1.00
R9456:Nol4	UTSW	18	23039840	missense	probably benign	0.41
R9469:Nol4	UTSW	18	22952261	missense	probably damaging	0.99
R9478:Nol4	UTSW	18	22920877	missense	probably damaging	1.00
R9708:Nol4	UTSW	18	22694996	missense	probably damaging	1.00
Z1088:Nol4	UTSW	18	22921902	missense	probably damaging	1.00
Z1177:Nol4	UTSW	18	22769840	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTGATGTGATCAAGGCTG -3'
(R):5'- ACAGAGCTATGTGATTGCTAGG -3'

Sequencing Primer
(F):5'- ATGTGATCAAGGCTGTACTGAATG -3'
(R):5'- CAGAGCTATGTGATTGCTAGGTATGG -3'

Posted On

2017-06-26