Mutagenetix > Incidental Mutation

Incidental Mutation 'R3713:Nol4'

259777

Institutional Source

Beutler Lab

Gene Symbol

Nol4

Ensembl Gene

ENSMUSG00000041923

Gene Name

nucleolar protein 4

Synonyms

1700013J13Rik, LOC383304, 4930568N03Rik

MMRRC Submission

040706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22826238-23174710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23172994 bp (GRCm39)

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]

AlphaFold

P60954

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: 88,424,081 (GRCm39)	M137V	probably benign	Het
Aak1	T	A	6: 86,932,172 (GRCm39)	I381N	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adgrf2	A	G	17: 43,023,979 (GRCm39)	V164A	probably damaging	Het
Ahdc1	G	A	4: 132,793,297 (GRCm39)	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,235,929 (GRCm39)	M168T	probably damaging	Het
Aox1	C	T	1: 58,095,374 (GRCm39)	T196I	probably benign	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,495,102 (GRCm39)	E1042G	possibly damaging	Het
Azi2	A	G	9: 117,876,508 (GRCm39)	D8G	possibly damaging	Het
Bcam	T	C	7: 19,498,118 (GRCm39)	T302A	probably benign	Het
Cct6b	A	T	11: 82,651,183 (GRCm39)	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,493,263 (GRCm39)	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,735,221 (GRCm39)	L819P	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Chd2	A	G	7: 73,121,538 (GRCm39)		probably benign	Het
Col7a1	G	T	9: 108,793,508 (GRCm39)	G1357*	probably null	Het
Cux1	A	G	5: 136,594,397 (GRCm39)		probably benign	Het
Cwh43	A	T	5: 73,595,835 (GRCm39)	I535F	probably damaging	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dnah12	T	C	14: 26,534,747 (GRCm39)	V2081A	probably benign	Het
Efcab5	A	T	11: 77,007,008 (GRCm39)	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,881,344 (GRCm39)	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,349,548 (GRCm39)	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,122,186 (GRCm39)	M1T	probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Galp	A	T	7: 6,216,836 (GRCm39)	D72V	probably damaging	Het
Gm9843	A	G	16: 76,200,419 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,732,076 (GRCm39)	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,344,776 (GRCm39)	Y437S	probably benign	Het
Macc1	A	G	12: 119,410,576 (GRCm39)	E448G	probably benign	Het
Madcam1	A	G	10: 79,504,194 (GRCm39)	H404R	probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Mroh3	T	C	1: 136,113,714 (GRCm39)	T692A	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Naip2	A	G	13: 100,298,410 (GRCm39)	F542S	probably damaging	Het
Napsa	A	G	7: 44,230,852 (GRCm39)	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Neil1	A	T	9: 57,054,254 (GRCm39)	V22E	probably damaging	Het
Nprl3	G	A	11: 32,205,464 (GRCm39)	T111I	probably damaging	Het
Or12k8	A	G	2: 36,975,517 (GRCm39)	M81T	possibly damaging	Het
Or1e26	A	T	11: 73,479,731 (GRCm39)	Y278N	probably damaging	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Pald1	G	A	10: 61,178,144 (GRCm39)	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,576,786 (GRCm39)	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,840,976 (GRCm39)	V232A	probably damaging	Het
Pde6b	A	G	5: 108,570,928 (GRCm39)	I388V	probably damaging	Het
Phactr2	C	A	10: 13,264,476 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,885,477 (GRCm39)	D56G	probably damaging	Het
Ptprh	A	T	7: 4,574,969 (GRCm39)	I350N	probably damaging	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Reln	A	G	5: 22,109,732 (GRCm39)	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,771,847 (GRCm39)	G59S	possibly damaging	Het
Rsph6a	G	A	7: 18,791,475 (GRCm39)	V215M	probably damaging	Het
Smcp	T	C	3: 92,491,431 (GRCm39)	K139E	unknown	Het
Stag1	A	G	9: 100,771,671 (GRCm39)	T699A	probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tle1	G	T	4: 72,044,659 (GRCm39)	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 11,910,139 (GRCm39)	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,077,648 (GRCm39)	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,600,880 (GRCm39)	M292T	probably benign	Het
Zfp108	T	A	7: 23,961,270 (GRCm39)	C620*	probably null	Het
Zscan4b	T	C	7: 10,635,818 (GRCm39)	T170A	probably benign	Het

Other mutations in Nol4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Nol4	APN	18	22,956,469 (GRCm39)	missense	probably benign	0.15
IGL00677:Nol4	APN	18	23,054,924 (GRCm39)	missense	probably damaging	1.00
IGL01153:Nol4	APN	18	22,902,850 (GRCm39)	missense	probably damaging	1.00
IGL01400:Nol4	APN	18	22,956,555 (GRCm39)	missense	probably damaging	0.99
IGL02006:Nol4	APN	18	23,054,975 (GRCm39)	missense	probably damaging	1.00
IGL02342:Nol4	APN	18	22,903,926 (GRCm39)	splice site	probably benign
IGL02501:Nol4	APN	18	22,956,398 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Nol4	UTSW	18	23,172,933 (GRCm39)	missense	probably damaging	1.00
R0096:Nol4	UTSW	18	23,054,915 (GRCm39)	missense	possibly damaging	0.95
R0097:Nol4	UTSW	18	22,852,198 (GRCm39)	missense	probably benign	0.23
R0097:Nol4	UTSW	18	22,852,198 (GRCm39)	missense	probably benign	0.23
R1257:Nol4	UTSW	18	22,903,738 (GRCm39)	missense	probably damaging	1.00
R1793:Nol4	UTSW	18	22,902,878 (GRCm39)	missense	probably damaging	1.00
R2101:Nol4	UTSW	18	22,956,466 (GRCm39)	missense	probably damaging	1.00
R2357:Nol4	UTSW	18	23,172,967 (GRCm39)	missense	probably benign	0.01
R2414:Nol4	UTSW	18	22,956,629 (GRCm39)	critical splice acceptor site	probably null
R2427:Nol4	UTSW	18	22,983,755 (GRCm39)	intron	probably benign
R3734:Nol4	UTSW	18	22,903,921 (GRCm39)	splice site	probably benign
R3803:Nol4	UTSW	18	22,828,012 (GRCm39)	missense	probably damaging	1.00
R4458:Nol4	UTSW	18	22,885,052 (GRCm39)	missense	probably damaging	0.99
R4736:Nol4	UTSW	18	22,852,050 (GRCm39)	missense	probably damaging	1.00
R4774:Nol4	UTSW	18	23,045,683 (GRCm39)	missense	probably damaging	0.96
R4795:Nol4	UTSW	18	23,054,944 (GRCm39)	missense	probably damaging	1.00
R5245:Nol4	UTSW	18	22,828,179 (GRCm39)	makesense	probably null
R5980:Nol4	UTSW	18	23,085,258 (GRCm39)	missense	probably damaging	0.97
R6372:Nol4	UTSW	18	23,171,613 (GRCm39)	critical splice donor site	probably null
R6485:Nol4	UTSW	18	22,903,850 (GRCm39)	missense	probably damaging	1.00
R6614:Nol4	UTSW	18	23,053,913 (GRCm39)	missense	probably damaging	1.00
R6809:Nol4	UTSW	18	23,053,882 (GRCm39)	missense	probably damaging	1.00
R6877:Nol4	UTSW	18	22,852,186 (GRCm39)	missense	probably benign	0.06
R7269:Nol4	UTSW	18	23,172,846 (GRCm39)	missense	probably benign
R7310:Nol4	UTSW	18	22,903,801 (GRCm39)	missense
R7720:Nol4	UTSW	18	23,173,080 (GRCm39)	missense	probably benign	0.16
R7753:Nol4	UTSW	18	23,171,659 (GRCm39)	start codon destroyed	probably benign	0.15
R7897:Nol4	UTSW	18	22,956,400 (GRCm39)	missense
R7974:Nol4	UTSW	18	22,852,082 (GRCm39)	nonsense	probably null
R8297:Nol4	UTSW	18	23,173,069 (GRCm39)	missense	probably damaging	0.99
R8303:Nol4	UTSW	18	23,173,231 (GRCm39)	unclassified	probably benign
R8466:Nol4	UTSW	18	23,171,638 (GRCm39)	missense	probably benign	0.03
R8985:Nol4	UTSW	18	23,085,294 (GRCm39)	missense	probably damaging	1.00
R9064:Nol4	UTSW	18	22,903,850 (GRCm39)	missense
R9296:Nol4	UTSW	18	22,956,388 (GRCm39)	missense
R9442:Nol4	UTSW	18	22,902,899 (GRCm39)	missense	probably damaging	1.00
R9456:Nol4	UTSW	18	23,172,897 (GRCm39)	missense	probably benign	0.41
R9469:Nol4	UTSW	18	23,085,318 (GRCm39)	missense	probably damaging	0.99
R9478:Nol4	UTSW	18	23,053,934 (GRCm39)	missense	probably damaging	1.00
R9708:Nol4	UTSW	18	22,828,053 (GRCm39)	missense	probably damaging	1.00
Z1088:Nol4	UTSW	18	23,054,959 (GRCm39)	missense	probably damaging	1.00
Z1177:Nol4	UTSW	18	22,902,897 (GRCm39)	nonsense	probably null

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