Mutagenetix > Incidental Mutation

Incidental Mutation 'R0345:Nol4l'

38371

Institutional Source

Beutler Lab

Gene Symbol

Nol4l

Ensembl Gene

ENSMUSG00000061411

Gene Name

nucleolar protein 4-like

Synonyms

8430427H17Rik, LOC381396

MMRRC Submission

038552-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R0345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153249381-153371869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153253672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 390 (S390C)

Ref Sequence

ENSEMBL: ENSMUSP00000105407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035346] [ENSMUST00000109784]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035346
AA Change: S634C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000036571
Gene: ENSMUSG00000061411
AA Change: S634C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109784
AA Change: S390C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105407
Gene: ENSMUSG00000061411
AA Change: S390C

Domain	Start	End	E-Value	Type
low complexity region	33	61	N/A	INTRINSIC
SCOP:d1sig__	161	246	1e-2	SMART
low complexity region	375	395	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119815

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	C	14: 59,377,079 (GRCm39)	N105D	possibly damaging	Het
A2m	T	C	6: 121,615,231 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,415,198 (GRCm39)	N641S	probably damaging	Het
Aff4	T	A	11: 53,263,708 (GRCm39)	S243T	probably benign	Het
Agap2	A	G	10: 126,923,764 (GRCm39)	H713R	unknown	Het
Ap2a2	T	A	7: 141,211,206 (GRCm39)	M914K	probably damaging	Het
Bcl7c	A	T	7: 127,307,635 (GRCm39)	M22K	possibly damaging	Het
Cacna1i	A	T	15: 80,256,663 (GRCm39)	D1019V	probably damaging	Het
Cd7	T	C	11: 120,929,012 (GRCm39)	T80A	probably benign	Het
Chia1	T	C	3: 106,029,755 (GRCm39)	Y130H	probably damaging	Het
Chmp6	T	C	11: 119,808,872 (GRCm39)		probably benign	Het
Chrnb4	A	G	9: 54,942,878 (GRCm39)	V132A	probably benign	Het
Ctnna3	A	G	10: 63,402,619 (GRCm39)	D110G	probably benign	Het
Cyp2d37-ps	A	T	15: 82,573,975 (GRCm39)		noncoding transcript	Het
Dnah6	T	C	6: 72,998,240 (GRCm39)	M4061V	probably benign	Het
Dydc2	C	A	14: 40,783,903 (GRCm39)	M73I	probably benign	Het
Egflam	G	T	15: 7,319,475 (GRCm39)		probably null	Het
Fam228b	C	T	12: 4,798,351 (GRCm39)	V151I	possibly damaging	Het
Fanca	C	T	8: 124,031,552 (GRCm39)	V380I	probably damaging	Het
Gbp2b	T	C	3: 142,313,944 (GRCm39)	L408S	probably damaging	Het
Kcnh4	T	C	11: 100,648,507 (GRCm39)	S66G	probably benign	Het
Kcnq3	A	T	15: 65,892,154 (GRCm39)	V407D	possibly damaging	Het
Kif24	A	T	4: 41,428,413 (GRCm39)	D182E	probably benign	Het
Llgl2	A	G	11: 115,740,818 (GRCm39)		probably benign	Het
Lmo7	T	A	14: 102,114,313 (GRCm39)	N140K	probably damaging	Het
Myo5c	A	G	9: 75,204,701 (GRCm39)	E1518G	probably damaging	Het
Myof	A	T	19: 38,012,793 (GRCm39)	N47K	probably damaging	Het
Nckap1	G	T	2: 80,375,321 (GRCm39)		probably benign	Het
Nlrp1a	C	A	11: 71,014,501 (GRCm39)	G250W	probably damaging	Het
Or2ag2b	T	C	7: 106,417,908 (GRCm39)	F206S	probably benign	Het
Or52e18	T	A	7: 104,609,388 (GRCm39)	M184L	probably damaging	Het
Or5ak22	T	C	2: 85,230,685 (GRCm39)	Q64R	possibly damaging	Het
Or5h26	G	A	16: 58,988,269 (GRCm39)	P79L	possibly damaging	Het
Plec	G	T	15: 76,061,367 (GRCm39)	P2886T	probably damaging	Het
Prdm16	T	C	4: 154,425,568 (GRCm39)	Y738C	probably benign	Het
Ptprz1	A	G	6: 23,016,164 (GRCm39)	Y820C	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,718,019 (GRCm39)	P98S	probably damaging	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc6a16	C	T	7: 44,908,672 (GRCm39)	A84V	possibly damaging	Het
Sntb2	T	C	8: 107,728,170 (GRCm39)	S373P	probably damaging	Het
Sorcs2	C	T	5: 36,185,218 (GRCm39)	V953I	probably benign	Het
Spata31f1a	T	C	4: 42,851,116 (GRCm39)	I347V	probably benign	Het
St7l	T	C	3: 104,803,125 (GRCm39)		probably benign	Het
Stap2	A	G	17: 56,307,097 (GRCm39)	V217A	probably damaging	Het
Stxbp5l	A	T	16: 37,108,670 (GRCm39)	D215E	probably damaging	Het
Synm	C	T	7: 67,385,569 (GRCm39)	V256I	probably benign	Het
Syt13	A	C	2: 92,776,412 (GRCm39)	E233A	possibly damaging	Het
Tecta	T	A	9: 42,295,514 (GRCm39)	E327V	probably damaging	Het
Tent5b	A	T	4: 133,213,522 (GRCm39)	Q131L	probably benign	Het
Themis3	A	T	17: 66,866,540 (GRCm39)		probably null	Het
Ttll13	T	A	7: 79,897,084 (GRCm39)	D14E	probably benign	Het
Tubb2a	A	C	13: 34,260,620 (GRCm39)	D26E	probably benign	Het
Ubr1	T	C	2: 120,734,584 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,844,195 (GRCm39)	V2537E	possibly damaging	Het
Zscan10	T	A	17: 23,829,056 (GRCm39)	F456I	probably damaging	Het
Zyg11b	A	G	4: 108,123,604 (GRCm39)	I121T	probably damaging	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
IGL02886:Nol4l	APN	2	153,371,457 (GRCm39)	missense	probably benign	0.27
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTGTCCTTGTGCCCAAAGTCTC -3'
(R):5'- AAATCTATGCCCAGATGCAGGCAG -3'

Sequencing Primer
(F):5'- TGTGCCCAAAGTCTCAGATG -3'
(R):5'- ACAGACCTCAGCATGAAAGG -3'

Posted On

2013-05-23