Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Nol4'

259777

Institutional Source

Beutler Lab

Gene Symbol

Nol4

Ensembl Gene

ENSMUSG00000041923

Gene Name

nucleolar protein 4

Synonyms

4930568N03Rik, 1700013J13Rik, LOC383304

MMRRC Submission

040706-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22693181-23041653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23039937 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 36 (I36V)

Ref Sequence

ENSEMBL: ENSMUSP00000130950 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081423

SMART Domains

Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923

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 damaging
Transcript: ENSMUST00000097651
AA Change: I36V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: I36V

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: I36V

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

SMART Domains

Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: I36V

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 damaging
Transcript: ENSMUST00000164893
AA Change: I36V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: I36V

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

SMART Domains

Protein: ENSMUSP00000125860
Gene: ENSMUSG00000041923

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

Meta Mutation Damage Score

0.1629

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	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
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
Z1088:Nol4	UTSW	18	22921902	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAACTGTCTCCAGCATC -3'
(R):5'- TTTCATGAGACCAGGGTGAACAG -3'

Sequencing Primer
(F):5'- TTCCGGGCTGCTCCAACAG -3'
(R):5'- CCAGGGTGAACAGGTGCG -3'

Posted On

2015-01-23