Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Nol10'

563940

Institutional Source

Beutler Lab

Gene Symbol

Nol10

Ensembl Gene

ENSMUSG00000061458

Gene Name

nucleolar protein 10

Synonyms

LOC217431

MMRRC Submission

045313-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17398459-17480096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17452108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 354 (L354P)

Ref Sequence

ENSEMBL: ENSMUSP00000035930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046011]

AlphaFold

Q5RJG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046011
AA Change: L354P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035930
Gene: ENSMUSG00000061458
AA Change: L354P

Domain	Start	End	E-Value	Type
WD40	42	81	1.1e1	SMART
Blast:WD40	84	123	1e-8	BLAST
WD40	165	204	3.3e1	SMART
WD40	223	257	4.42e1	SMART
WD40	260	299	1.19e1	SMART
WD40	302	340	1.97e2	SMART
low complexity region	451	476	N/A	INTRINSIC
Pfam:NUC153	482	509	1.4e-15	PFAM
low complexity region	515	536	N/A	INTRINSIC
low complexity region	542	553	N/A	INTRINSIC
coiled coil region	557	588	N/A	INTRINSIC
low complexity region	650	660	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adamts19	A	T	18: 58,970,974 (GRCm39)	D186V	probably damaging	Het
Agrn	T	C	4: 156,259,063 (GRCm39)	D884G	probably damaging	Het
Akr1c6	T	A	13: 4,497,019 (GRCm39)	C154S	probably damaging	Het
Apob	T	C	12: 8,057,037 (GRCm39)	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,269,200 (GRCm39)	E399G	possibly damaging	Het
Arg2	G	A	12: 79,197,572 (GRCm39)	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,119,481 (GRCm39)	V308A	probably damaging	Het
Atcay	A	T	10: 81,046,366 (GRCm39)	C319*	probably null	Het
Bend4	C	G	5: 67,584,876 (GRCm39)	R16P	unknown	Het
Braf	A	G	6: 39,654,504 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,828,898 (GRCm39)	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,693,494 (GRCm39)	G11D	probably damaging	Het
Cgn	T	C	3: 94,683,509 (GRCm39)	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,640,322 (GRCm39)	E294D	probably benign	Het
Cnn1	T	A	9: 22,019,513 (GRCm39)	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,134,646 (GRCm39)	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 26,857,144 (GRCm39)	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,051,511 (GRCm39)	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dgkb	T	C	12: 38,031,985 (GRCm39)	S16P	possibly damaging	Het
Dll4	T	C	2: 119,162,773 (GRCm39)	C465R	probably damaging	Het
Dsp	A	G	13: 38,377,524 (GRCm39)	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,681,370 (GRCm39)	N250S	probably benign	Het
Fsip2	G	A	2: 82,809,425 (GRCm39)	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319 (GRCm39)	V704M	probably damaging	Het
Hgf	T	A	5: 16,798,942 (GRCm39)	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,614,116 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,132,813 (GRCm39)	S204P	probably damaging	Het
Igsf10	T	A	3: 59,226,875 (GRCm39)	N2266I	probably damaging	Het
Krtap15-1	A	G	16: 88,625,982 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,408,423 (GRCm39)	D1751G	probably damaging	Het
Madd	A	T	2: 90,992,521 (GRCm39)	D1050E	probably benign	Het
Man1c1	C	T	4: 134,308,147 (GRCm39)	G323R	probably damaging	Het
Mgll	A	G	6: 88,800,357 (GRCm39)	E252G	probably benign	Het
Muc2	A	G	7: 141,278,965 (GRCm39)	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,218,599 (GRCm39)	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965 (GRCm38)	T384A	probably benign	Het
Nexn	T	C	3: 151,952,832 (GRCm39)	E310G	probably damaging	Het
Npy4r	T	C	14: 33,868,872 (GRCm39)	R139G	probably damaging	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or14c44	T	C	7: 86,062,209 (GRCm39)	V213A	probably benign	Het
Or52a33	C	T	7: 103,288,909 (GRCm39)	G146D	probably damaging	Het
Or8j3c	G	A	2: 86,253,940 (GRCm39)	L27F	probably benign	Het
Pdzd8	A	T	19: 59,289,077 (GRCm39)	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pot1a	T	C	6: 25,752,497 (GRCm39)		probably null	Het
Ppip5k1	T	A	2: 121,178,052 (GRCm39)	E283D	probably benign	Het
Ptpn2	A	C	18: 67,808,862 (GRCm39)	I318R	possibly damaging	Het
Raph1	A	G	1: 60,529,027 (GRCm39)	F745L	unknown	Het
Rgs19	C	T	2: 181,331,541 (GRCm39)	V88I	probably benign	Het
Ripk4	A	G	16: 97,544,449 (GRCm39)	S733P	probably benign	Het
Rprd1b	T	A	2: 157,870,899 (GRCm39)	W29R	probably damaging	Het
Rtkn	A	G	6: 83,112,943 (GRCm39)	N5S	probably damaging	Het
Sh3bp5l	A	T	11: 58,232,128 (GRCm39)	Q131L	probably damaging	Het
Slain2	T	A	5: 73,131,891 (GRCm39)	F461I	possibly damaging	Het
Stk24	A	T	14: 121,545,434 (GRCm39)	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,927,830 (GRCm39)		probably null	Het
Tapbpl	A	T	6: 125,203,558 (GRCm39)	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,698,341 (GRCm39)	I18V	possibly damaging	Het
Tecta	T	A	9: 42,299,048 (GRCm39)	I233F	probably damaging	Het
Tet3	A	G	6: 83,381,038 (GRCm39)	S377P	probably benign	Het
Uty	A	G	Y: 1,154,262 (GRCm39)	S721P	probably benign	Het
Wnk4	C	A	11: 101,155,979 (GRCm39)	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 74,140,216 (GRCm39)	V336L	probably benign	Het
Zfp605	T	A	5: 110,275,826 (GRCm39)	S315T	probably damaging	Het
Zfp746	A	G	6: 48,041,811 (GRCm39)	L305P	probably damaging	Het

Other mutations in Nol10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Nol10	APN	12	17,411,130 (GRCm39)	splice site	probably benign
R1769:Nol10	UTSW	12	17,466,709 (GRCm39)	splice site	probably benign
R1884:Nol10	UTSW	12	17,418,390 (GRCm39)	critical splice donor site	probably null
R1930:Nol10	UTSW	12	17,398,555 (GRCm39)	start codon destroyed	probably null	0.99
R1931:Nol10	UTSW	12	17,398,555 (GRCm39)	start codon destroyed	probably null	0.99
R2010:Nol10	UTSW	12	17,466,102 (GRCm39)	missense	probably benign	0.00
R2037:Nol10	UTSW	12	17,411,152 (GRCm39)	missense	probably benign	0.01
R2168:Nol10	UTSW	12	17,423,585 (GRCm39)	missense	probably damaging	1.00
R3729:Nol10	UTSW	12	17,474,674 (GRCm39)	missense	probably benign	0.42
R3731:Nol10	UTSW	12	17,474,674 (GRCm39)	missense	probably benign	0.42
R4368:Nol10	UTSW	12	17,429,293 (GRCm39)	missense	probably damaging	1.00
R4618:Nol10	UTSW	12	17,398,562 (GRCm39)	missense	probably damaging	0.98
R4736:Nol10	UTSW	12	17,405,288 (GRCm39)	missense	probably damaging	1.00
R5342:Nol10	UTSW	12	17,419,621 (GRCm39)	splice site	probably null
R5451:Nol10	UTSW	12	17,409,103 (GRCm39)	nonsense	probably null
R5536:Nol10	UTSW	12	17,466,138 (GRCm39)	nonsense	probably null
R5586:Nol10	UTSW	12	17,466,829 (GRCm39)	missense	possibly damaging	0.73
R6045:Nol10	UTSW	12	17,398,479 (GRCm39)	start gained	probably benign
R6833:Nol10	UTSW	12	17,402,728 (GRCm39)	missense	probably benign	0.03
R7039:Nol10	UTSW	12	17,479,185 (GRCm39)	missense	possibly damaging	0.94
R7189:Nol10	UTSW	12	17,423,562 (GRCm39)	critical splice acceptor site	probably null
R7399:Nol10	UTSW	12	17,452,174 (GRCm39)	missense	probably damaging	1.00
R7600:Nol10	UTSW	12	17,419,481 (GRCm39)	missense	probably damaging	0.99
R7650:Nol10	UTSW	12	17,412,683 (GRCm39)	critical splice donor site	probably null
R7729:Nol10	UTSW	12	17,474,676 (GRCm39)	missense	possibly damaging	0.62
R7772:Nol10	UTSW	12	17,398,586 (GRCm39)	missense	probably damaging	1.00
R7869:Nol10	UTSW	12	17,408,239 (GRCm39)	missense	probably null	0.93
R7972:Nol10	UTSW	12	17,402,648 (GRCm39)	missense	probably benign	0.15
R8686:Nol10	UTSW	12	17,419,772 (GRCm39)	intron	probably benign
R8926:Nol10	UTSW	12	17,466,871 (GRCm39)	missense	probably benign	0.00
R8936:Nol10	UTSW	12	17,466,863 (GRCm39)	missense	probably benign	0.08
R8966:Nol10	UTSW	12	17,419,507 (GRCm39)	missense	possibly damaging	0.64
R8994:Nol10	UTSW	12	17,402,717 (GRCm39)	missense	probably damaging	1.00
R9002:Nol10	UTSW	12	17,408,134 (GRCm39)	missense	probably damaging	1.00
R9096:Nol10	UTSW	12	17,466,199 (GRCm39)	missense	probably benign
R9196:Nol10	UTSW	12	17,455,316 (GRCm39)	missense	probably benign	0.04
R9548:Nol10	UTSW	12	17,466,144 (GRCm39)	missense	possibly damaging	0.49
Z1177:Nol10	UTSW	12	17,409,089 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTGTGATGTAACAGCTTAGTACC -3'
(R):5'- TGGCAGAAACGGGACATTTG -3'

Sequencing Primer
(F):5'- AACAGCTTAGTACCTTTGTATCTTTC -3'
(R):5'- AGATCAGATAAAAATGGCTCAGTTG -3'

Posted On

2019-06-26