Mutagenetix > Incidental Mutation

Incidental Mutation 'R1793:Nol4'

201996

Institutional Source

Beutler Lab

Gene Symbol

Nol4

Ensembl Gene

ENSMUSG00000041923

Gene Name

nucleolar protein 4

Synonyms

4930568N03Rik, 1700013J13Rik, LOC383304

MMRRC Submission

039823-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R1793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22693181-23041653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22769821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 378 (Y378H)

Ref Sequence

ENSEMBL: ENSMUSP00000080150 (fasta)

Gene Model

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

AlphaFold

P60954

Predicted Effect

unknown
Transcript: ENSMUST00000069215
AA Change: Y232H

SMART Domains

Protein: ENSMUSP00000064166
Gene: ENSMUSG00000041923
AA Change: Y232H

Domain	Start	End	E-Value	Type
low complexity region	54	65	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	342	361	N/A	INTRINSIC
low complexity region	368	378	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000081423
AA Change: Y378H

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

SMART Domains

Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: Y378H

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

probably benign
Transcript: ENSMUST00000092015

SMART Domains

Protein: ENSMUSP00000089642
Gene: ENSMUSG00000041923

Domain	Start	End	E-Value	Type
low complexity region	54	65	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	278	297	N/A	INTRINSIC
low complexity region	304	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097651

SMART Domains

Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923

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

probably damaging
Transcript: ENSMUST00000164186
AA Change: Y451H

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

SMART Domains

Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: Y451H

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

probably benign
Transcript: ENSMUST00000164893

SMART Domains

Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923

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

Meta Mutation Damage Score

0.2739

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

100% (122/122)

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,278	H571Q	probably damaging	Het
Abcf2	T	A	5: 24,568,776	M372L	probably benign	Het
Acaca	A	C	11: 84,315,969	T1552P	probably damaging	Het
Acaca	A	G	11: 84,338,393	D1682G	probably damaging	Het
Acvr1b	T	C	15: 101,194,025	V62A	probably benign	Het
Aimp1	C	T	3: 132,674,064	V97M	probably benign	Het
Aldh1l1	C	T	6: 90,577,831	T557I	possibly damaging	Het
Alpk1	T	C	3: 127,677,798	T1012A	probably damaging	Het
Amot	G	A	X: 145,450,589		probably benign	Het
Arap1	T	A	7: 101,388,622	H477Q	probably benign	Het
Arhgap18	T	A	10: 26,860,736		probably benign	Het
Arhgef10l	C	T	4: 140,515,373	V862M	probably damaging	Het
Arl4d	A	G	11: 101,666,728	I27V	probably benign	Het
Asb18	G	A	1: 90,014,555	P8L	probably damaging	Het
Ash1l	A	G	3: 89,070,309	H2682R	probably damaging	Het
Aspm	T	A	1: 139,457,341	V241E	probably benign	Het
Atf7ip	G	T	6: 136,609,219		probably benign	Het
AY358078	T	G	14: 51,804,594	M142R	unknown	Het
C3	T	A	17: 57,219,592	K796N	possibly damaging	Het
Cd3eap	T	C	7: 19,357,979	T68A	possibly damaging	Het
Ceacam16	T	C	7: 19,856,116	T301A	probably damaging	Het
Ceacam5	T	G	7: 17,747,395	Y356D	probably benign	Het
Cep192	C	T	18: 67,851,767	A1616V	possibly damaging	Het
Cherp	A	T	8: 72,463,150	H645Q	probably benign	Het
CK137956	T	C	4: 127,951,449	D167G	probably benign	Het
Clcn1	T	A	6: 42,298,926		probably null	Het
Cntn1	C	T	15: 92,291,671	T625I	possibly damaging	Het
Cpn2	T	A	16: 30,259,324	N520Y	probably damaging	Het
Crocc	G	A	4: 141,019,309	R1762W	probably damaging	Het
Cts3	C	A	13: 61,568,153	V100F	probably benign	Het
Ddx56	A	T	11: 6,266,934	V87D	probably damaging	Het
Dnah9	C	T	11: 66,119,594		probably null	Het
Dock1	T	A	7: 135,098,727		probably null	Het
Dst	T	A	1: 34,152,471	Y291*	probably null	Het
Eif4g3	T	C	4: 138,171,131	I1071T	probably damaging	Het
Fblim1	T	C	4: 141,595,238	Q78R	probably damaging	Het
Fcamr	C	T	1: 130,811,547	P195S	probably benign	Het
Fcho1	G	A	8: 71,709,022	Q835*	probably null	Het
Frem3	A	G	8: 80,613,112	N678S	probably benign	Het
Frk	G	A	10: 34,607,882	R413H	probably benign	Het
Gm10619	C	A	7: 73,810,010		noncoding transcript	Het
Gm12185	G	A	11: 48,915,756	R203*	probably null	Het
Gm12886	A	G	4: 121,422,977	V34A	probably benign	Het
Gna12	A	T	5: 140,760,952	I246N	probably damaging	Het
Gpm6a	T	C	8: 55,054,832	M201T	probably benign	Het
Gpsm2	T	G	3: 108,700,909	D220A	probably benign	Het
Grip2	C	G	6: 91,783,642	V325L	probably benign	Het
Grk5	C	A	19: 61,076,762	A288D	probably damaging	Het
Herpud2	G	A	9: 25,110,657	A231V	possibly damaging	Het
Hmcn1	T	C	1: 150,749,083	S1024G	probably benign	Het
Hp1bp3	A	G	4: 138,230,509	D295G	probably damaging	Het
Igsf21	T	C	4: 140,034,392	H325R	probably damaging	Het
Ing2	T	A	8: 47,669,329	L61F	probably damaging	Het
Jak3	T	C	8: 71,685,946		probably benign	Het
Kcnn3	T	A	3: 89,609,405	C374S	probably benign	Het
Klk1b22	A	G	7: 44,116,351		probably benign	Het
Larp1	T	C	11: 58,049,938	M630T	possibly damaging	Het
Lhx5	T	A	5: 120,434,660	C115S	probably damaging	Het
Lmcd1	C	A	6: 112,328,751	T271K	probably benign	Het
Lpar1	G	A	4: 58,486,798	R158*	probably null	Het
Lyst	T	A	13: 13,647,083	C1347*	probably null	Het
Maats1	T	A	16: 38,321,419	N384Y	possibly damaging	Het
Map3k8	G	A	18: 4,332,389	Q441*	probably null	Het
Mboat1	T	C	13: 30,219,650	V144A	probably damaging	Het
Mcur1	C	T	13: 43,560,015	G38S	unknown	Het
Med13	T	A	11: 86,329,351	M276L	probably benign	Het
Mefv	A	G	16: 3,708,664	S699P	possibly damaging	Het
Mfsd4a	C	A	1: 132,059,339	A62S	probably damaging	Het
Mmp27	A	G	9: 7,571,458	M1V	probably null	Het
Myo1c	C	T	11: 75,657,589	T58I	probably damaging	Het
Myom3	A	T	4: 135,810,755	D1316V	probably benign	Het
Naa25	T	A	5: 121,417,415	C235S	possibly damaging	Het
Naa25	C	A	5: 121,420,593	R333S	probably damaging	Het
Nav3	G	A	10: 109,703,372	T2056I	probably benign	Het
Npat	G	A	9: 53,552,289	R124Q	probably damaging	Het
Npr3	T	A	15: 11,848,579	E434V	probably benign	Het
Nptx2	A	G	5: 144,548,320	T208A	probably benign	Het
Obscn	C	T	11: 59,077,780	V2798M	probably damaging	Het
Olfr1406	A	T	1: 173,184,409	H8Q	probably benign	Het
Olfr1484	C	T	19: 13,585,415	T37I	probably benign	Het
Olfr569	A	G	7: 102,888,043	Y37H	probably benign	Het
Padi1	G	A	4: 140,814,656	P652S	probably damaging	Het
Pcdh1	G	T	18: 38,198,885	P355Q	probably damaging	Het
Pck2	G	A	14: 55,543,965	R189H	possibly damaging	Het
Pcsk5	T	A	19: 17,454,750	K1500N	possibly damaging	Het
Phc3	A	T	3: 30,948,716	S218T	probably damaging	Het
Piezo2	T	A	18: 63,106,284	M510L	possibly damaging	Het
Ppp1r3a	A	T	6: 14,754,718	Y177N	probably damaging	Het
Psme2b	A	T	11: 48,945,534	D195E	probably damaging	Het
Ptprr	T	C	10: 116,252,922	V463A	probably damaging	Het
Pwwp2b	G	A	7: 139,256,365	R574Q	probably damaging	Het
Rap1gds1	T	A	3: 139,050,553	T14S	possibly damaging	Het
Rbm11	A	T	16: 75,600,797	K205M	probably damaging	Het
Rfx1	T	A	8: 84,066,421		probably benign	Het
Rnasel	C	A	1: 153,754,423	H228Q	probably damaging	Het
Sap130	T	A	18: 31,698,587	I710K	probably benign	Het
Slc27a4	C	A	2: 29,805,721	D89E	probably benign	Het
Spata31d1b	T	C	13: 59,715,965	V309A	probably benign	Het
Syt7	T	G	19: 10,443,990	Y420D	probably damaging	Het
Tanc2	A	G	11: 105,625,033		probably null	Het
Tbc1d10b	A	G	7: 127,203,758	S333P	possibly damaging	Het
Tenm2	G	A	11: 36,023,382	P2442S	probably damaging	Het
Tenm3	C	T	8: 48,674,544	C33Y	probably damaging	Het
Timmdc1	A	G	16: 38,499,057	L245P	possibly damaging	Het
Tlr5	T	C	1: 182,972,447	F5L	probably benign	Het
Ttc25	C	A	11: 100,569,853		probably null	Het
Ttll4	T	A	1: 74,687,840	F784L	possibly damaging	Het
Tulp4	A	G	17: 6,139,112	T70A	possibly damaging	Het
Txndc17	T	A	11: 72,208,745	N81K	probably benign	Het
Ubr3	C	T	2: 70,000,551		probably benign	Het
Uri1	A	C	7: 37,981,691	V96G	probably damaging	Het
Uspl1	T	A	5: 149,213,436	I482N	probably damaging	Het
Vmn1r229	A	G	17: 20,814,712	N73S	possibly damaging	Het
Vwa7	G	T	17: 35,024,412	G689*	probably null	Het
Zfp114	T	A	7: 24,177,739		probably null	Het
Zfp618	A	G	4: 63,133,237	S659G	probably damaging	Het
Zfp872	A	G	9: 22,200,053	K275R	probably damaging	Het
Zzef1	C	T	11: 72,886,709	P1789S	probably damaging	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
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
R5980:Nol4	UTSW	18	22952201	missense	probably damaging	0.97
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'- GCCTCCCAAGAGAGTCCTTATC -3'
(R):5'- ACAGAAGAGAGCAGTCCTCC -3'

Sequencing Primer
(F):5'- TGAAACCCCCTTTGACCTGACG -3'
(R):5'- GAGAGCAGTCCTCCAAACCCTTC -3'

Posted On

2014-06-23