Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02886:Nol4l'

363013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nol4l

Ensembl Gene

ENSMUSG00000061411

Gene Name

nucleolar protein 4-like

Synonyms

8430427H17Rik, LOC381396

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

IGL02886

Quality Score

Status

Chromosome

Chromosomal Location

153249381-153371869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153371457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 76 (F76L)

Ref Sequence

ENSEMBL: ENSMUSP00000036571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035346]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035346
AA Change: F76L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036571
Gene: ENSMUSG00000061411
AA Change: F76L

Domain	Start	End	E-Value	Type
low complexity region	58	71	N/A	INTRINSIC
low complexity region	277	305	N/A	INTRINSIC
low complexity region	405	422	N/A	INTRINSIC
low complexity region	619	639	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,863 (GRCm39)	C1140S	probably damaging	Het
Abhd12b	T	C	12: 70,229,740 (GRCm39)	I238T	possibly damaging	Het
Adgrb3	T	C	1: 25,543,991 (GRCm39)		probably null	Het
Baz2b	A	T	2: 59,788,087 (GRCm39)		probably null	Het
Brwd3	T	C	X: 107,794,454 (GRCm39)	Y1410C	probably damaging	Het
Casp7	T	A	19: 56,421,775 (GRCm39)	I71N	probably damaging	Het
Cspg4	A	T	9: 56,804,672 (GRCm39)	I1828F	probably damaging	Het
Cul2	T	C	18: 3,426,920 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,986,700 (GRCm39)	D5409G	possibly damaging	Het
Fam187a	A	T	11: 102,777,380 (GRCm39)	T395S	probably benign	Het
Fcgr2b	A	G	1: 170,793,297 (GRCm39)	V244A	possibly damaging	Het
Fubp1	A	G	3: 151,926,392 (GRCm39)	E333G	possibly damaging	Het
Ganab	G	T	19: 8,888,391 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,677,952 (GRCm39)	S170P	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Klhl11	T	C	11: 100,363,047 (GRCm39)	S170G	possibly damaging	Het
Lrrc56	A	G	7: 140,777,090 (GRCm39)		probably benign	Het
Lrrd1	T	C	5: 3,901,534 (GRCm39)	V613A	probably benign	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myo5a	T	A	9: 75,059,169 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,069,569 (GRCm39)	D837V	probably damaging	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Or10ak7	T	C	4: 118,792,027 (GRCm39)	E6G	probably benign	Het
Or2b2b	T	A	13: 21,859,122 (GRCm39)		probably benign	Het
Or5b98	T	A	19: 12,931,882 (GRCm39)	S310T	probably benign	Het
Pck1	G	A	2: 172,996,649 (GRCm39)	E188K	probably benign	Het
Pdcd11	T	C	19: 47,102,064 (GRCm39)	V1083A	possibly damaging	Het
Primpol	G	A	8: 47,046,619 (GRCm39)	Q226*	probably null	Het
Rbm15	A	C	3: 107,233,611 (GRCm39)	V959G	probably benign	Het
Rorb	A	G	19: 18,954,943 (GRCm39)		probably null	Het
Spata9	T	C	13: 76,125,853 (GRCm39)	L112P	probably damaging	Het
Stk24	A	T	14: 121,529,527 (GRCm39)	L375Q	probably null	Het
Svip	A	G	7: 51,655,509 (GRCm39)	S11P	possibly damaging	Het
Taf13	T	C	3: 108,488,500 (GRCm39)		probably benign	Het
Tex30	T	C	1: 44,127,683 (GRCm39)	Y7C	probably damaging	Het
Tmem68	T	C	4: 3,569,361 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,918,344 (GRCm39)	E1189G	probably damaging	Het
Top2b	T	C	14: 16,365,688 (GRCm38)	S4P	possibly damaging	Het
Trav3-3	C	A	14: 53,903,822 (GRCm39)	L47I	probably benign	Het
Ttn	G	A	2: 76,733,557 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,323,811 (GRCm39)		probably benign	Het

Other mutations in Nol4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Nol4l	APN	2	153,319,856 (GRCm39)	missense	probably damaging	0.96
IGL01325:Nol4l	APN	2	153,278,271 (GRCm39)	splice site	probably benign
IGL02608:Nol4l	APN	2	153,278,213 (GRCm39)	missense	possibly damaging	0.50
IGL03210:Nol4l	APN	2	153,371,378 (GRCm39)	missense	probably benign	0.03
IGL03055:Nol4l	UTSW	2	153,278,190 (GRCm39)	synonymous	silent
R0285:Nol4l	UTSW	2	153,325,773 (GRCm39)	splice site	probably benign
R0345:Nol4l	UTSW	2	153,253,672 (GRCm39)	missense	probably benign	0.00
R0555:Nol4l	UTSW	2	153,259,604 (GRCm39)	splice site	probably null
R1966:Nol4l	UTSW	2	153,371,375 (GRCm39)	missense	probably benign	0.01
R2044:Nol4l	UTSW	2	153,371,441 (GRCm39)	missense	possibly damaging	0.66
R2368:Nol4l	UTSW	2	153,259,959 (GRCm39)	missense	probably damaging	1.00
R4855:Nol4l	UTSW	2	153,253,726 (GRCm39)	missense	probably benign	0.06
R5696:Nol4l	UTSW	2	153,260,026 (GRCm39)	missense	probably damaging	0.99
R5776:Nol4l	UTSW	2	153,259,741 (GRCm39)	missense	probably damaging	1.00
R6807:Nol4l	UTSW	2	153,325,746 (GRCm39)	nonsense	probably null
R6845:Nol4l	UTSW	2	153,258,582 (GRCm39)	missense	probably benign	0.00
R6872:Nol4l	UTSW	2	153,325,737 (GRCm39)	missense	probably damaging	0.98
R6940:Nol4l	UTSW	2	153,253,684 (GRCm39)	missense	probably benign	0.00
R8165:Nol4l	UTSW	2	153,262,473 (GRCm39)	nonsense	probably null
R8263:Nol4l	UTSW	2	153,259,337 (GRCm39)	missense	probably damaging	0.99
R8500:Nol4l	UTSW	2	153,278,266 (GRCm39)	missense	probably damaging	0.99
R8938:Nol4l	UTSW	2	153,262,651 (GRCm39)	missense	probably damaging	1.00
R9097:Nol4l	UTSW	2	153,312,630 (GRCm39)	missense	probably damaging	0.96
R9098:Nol4l	UTSW	2	153,312,630 (GRCm39)	missense	probably damaging	0.96
R9099:Nol4l	UTSW	2	153,312,630 (GRCm39)	missense	probably damaging	0.96
R9115:Nol4l	UTSW	2	153,253,638 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18