Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:Nol8'

548088

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

D13Ertd548e, 4921532D18Rik, 5730412B09Rik

MMRRC Submission

045155-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49806554-49832492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49829862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1104 (R1104C)

Ref Sequence

ENSEMBL: ENSMUSP00000152878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021824] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000223467]

AlphaFold

Q3UHX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021824
AA Change: R1122C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: R1122C

Domain	Start	End	E-Value	Type
RRM	27	103	3.02e-9	SMART
low complexity region	315	327	N/A	INTRINSIC
low complexity region	454	468	N/A	INTRINSIC
low complexity region	712	724	N/A	INTRINSIC
low complexity region	804	816	N/A	INTRINSIC
low complexity region	836	849	N/A	INTRINSIC
coiled coil region	886	916	N/A	INTRINSIC
coiled coil region	955	981	N/A	INTRINSIC
low complexity region	1080	1093	N/A	INTRINSIC
low complexity region	1152	1164	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000221142
AA Change: R1104C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222197
AA Change: R1122C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223467
AA Change: R1104C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (87/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,554 (GRCm39)	I419T	possibly damaging	Het
Afap1	T	C	5: 36,119,604 (GRCm39)	V294A	probably benign	Het
Amotl1	T	A	9: 14,486,532 (GRCm39)	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,550,215 (GRCm39)	S961G	probably damaging	Het
Asxl3	A	G	18: 22,650,731 (GRCm39)	K907E	probably damaging	Het
BC028528	A	T	3: 95,792,323 (GRCm39)	L137I	possibly damaging	Het
Cand1	A	T	10: 119,047,659 (GRCm39)	N610K	probably benign	Het
Cat	A	G	2: 103,304,698 (GRCm39)	I109T	probably benign	Het
Ccdc18	T	C	5: 108,341,664 (GRCm39)	V853A	probably benign	Het
Chd4	C	A	6: 125,085,405 (GRCm39)	D805E	possibly damaging	Het
Cnih1	A	C	14: 47,017,652 (GRCm39)	F77V	probably damaging	Het
Cntd1	A	T	11: 101,178,252 (GRCm39)	I284F	probably damaging	Het
Col6a3	C	A	1: 90,755,759 (GRCm39)	E177*	probably null	Het
Cpxm2	T	A	7: 131,745,408 (GRCm39)	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,584,525 (GRCm39)	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,763,096 (GRCm39)	S294P	probably damaging	Het
Dchs1	A	G	7: 105,406,228 (GRCm39)	C2335R	probably benign	Het
Disc1	G	T	8: 125,977,724 (GRCm39)	C719F	probably damaging	Het
Dnah14	A	C	1: 181,525,614 (GRCm39)	D2180A	probably benign	Het
Dop1b	G	A	16: 93,573,878 (GRCm39)	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,725,332 (GRCm39)	H481L	probably benign	Het
Epha6	A	G	16: 59,503,013 (GRCm39)	S965P	probably damaging	Het
Esrrg	G	T	1: 187,882,503 (GRCm39)	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,831,704 (GRCm39)	K438R	probably damaging	Het
Fam98a	C	A	17: 75,845,384 (GRCm39)	R454L	unknown	Het
Fam98c	A	T	7: 28,855,308 (GRCm39)		probably null	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Galnt13	A	G	2: 54,988,587 (GRCm39)	T470A	probably damaging	Het
Ggt7	A	T	2: 155,345,015 (GRCm39)		probably null	Het
Golim4	T	C	3: 75,785,957 (GRCm39)	E606G	probably damaging	Het
Gpd2	G	A	2: 57,197,112 (GRCm39)		probably null	Het
Grin2b	T	C	6: 135,757,304 (GRCm39)	M386V	probably damaging	Het
Hfm1	A	T	5: 107,059,306 (GRCm39)	S239T	probably benign	Het
Hmcn1	G	A	1: 150,649,641 (GRCm39)	T615I	probably benign	Het
Hook2	G	A	8: 85,724,040 (GRCm39)	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,765,131 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,234,150 (GRCm39)	Y421C	probably damaging	Het
Il21	A	G	3: 37,286,629 (GRCm39)	L29P	probably damaging	Het
Ildr1	A	G	16: 36,542,730 (GRCm39)	S421G	probably benign	Het
Kat2b	C	A	17: 53,972,894 (GRCm39)	T736K	probably benign	Het
Kcng1	A	G	2: 168,104,529 (GRCm39)	V439A	probably damaging	Het
Kif21a	A	T	15: 90,833,106 (GRCm39)		probably null	Het
Lat	A	G	7: 125,968,318 (GRCm39)		probably null	Het
Mastl	T	A	2: 23,023,425 (GRCm39)	K433*	probably null	Het
Mettl2	A	G	11: 105,019,719 (GRCm39)	R119G	probably benign	Het
Mia2	C	T	12: 59,231,021 (GRCm39)	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,563,635 (GRCm39)	D133E	probably benign	Het
Mslnl	A	G	17: 25,962,186 (GRCm39)	T195A	probably benign	Het
Muc16	T	G	9: 18,551,051 (GRCm39)	T5081P	probably benign	Het
Mylpf	G	C	7: 126,813,139 (GRCm39)	R110P	probably damaging	Het
Myo19	G	T	11: 84,798,194 (GRCm39)	C738F	possibly damaging	Het
Nat8f4	T	A	6: 85,878,271 (GRCm39)	N84I	possibly damaging	Het
Notch1	A	T	2: 26,353,830 (GRCm39)	D1932E	probably benign	Het
Nsun3	A	T	16: 62,596,663 (GRCm39)	C152S	possibly damaging	Het
Opcml	G	A	9: 28,586,507 (GRCm39)	W75*	probably null	Het
Or14j10	A	G	17: 37,934,597 (GRCm39)	F310L	probably benign	Het
Pcdh7	G	A	5: 57,879,582 (GRCm39)	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,536,334 (GRCm39)	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,727,103 (GRCm39)	L551S	probably damaging	Het
Plaa	G	A	4: 94,458,060 (GRCm39)	Q637*	probably null	Het
Plekhh1	A	T	12: 79,122,204 (GRCm39)	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 66,136,495 (GRCm39)	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,320,382 (GRCm39)	V554A	probably damaging	Het
Rab44	A	G	17: 29,357,150 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasgrf2	T	C	13: 92,034,521 (GRCm39)	T1119A	probably damaging	Het
Rims2	A	G	15: 39,449,044 (GRCm39)	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,374,294 (GRCm39)	C280S	probably damaging	Het
Sde2	T	C	1: 180,693,827 (GRCm39)	F439S	probably damaging	Het
Setd5	T	C	6: 113,092,532 (GRCm39)	I304T	probably benign	Het
Sipa1l1	A	G	12: 82,449,896 (GRCm39)	E1106G	probably benign	Het
Sis	T	G	3: 72,810,940 (GRCm39)	S1694R	probably damaging	Het
Smad9	T	A	3: 54,693,614 (GRCm39)	F181Y	probably benign	Het
Smg1	A	G	7: 117,797,502 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,425,516 (GRCm39)	Y46H	probably damaging	Het
Tdrd12	A	G	7: 35,177,534 (GRCm39)	M940T	unknown	Het
Tmem44	G	T	16: 30,366,213 (GRCm39)	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,133,911 (GRCm39)	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,288,763 (GRCm39)	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,796,191 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,950,456 (GRCm39)	Y634N	probably damaging	Het
Vmn1r211	C	T	13: 23,036,063 (GRCm39)	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,349,722 (GRCm39)	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,831,110 (GRCm39)	L1580P	probably benign	Het
Vrk3	C	A	7: 44,417,890 (GRCm39)	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,346,563 (GRCm39)	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	Het

Other mutations in Nol8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Nol8	APN	13	49,815,704 (GRCm39)	missense	probably benign	0.01
IGL01106:Nol8	APN	13	49,807,957 (GRCm39)	missense	possibly damaging	0.46
IGL01413:Nol8	APN	13	49,813,428 (GRCm39)	missense	possibly damaging	0.82
IGL01540:Nol8	APN	13	49,815,146 (GRCm39)	missense	probably benign	0.06
IGL01670:Nol8	APN	13	49,814,784 (GRCm39)	missense	possibly damaging	0.54
IGL01672:Nol8	APN	13	49,828,883 (GRCm39)	missense	possibly damaging	0.95
IGL02032:Nol8	APN	13	49,826,248 (GRCm39)	missense	probably benign
IGL02212:Nol8	APN	13	49,815,626 (GRCm39)	missense	possibly damaging	0.87
IGL02323:Nol8	APN	13	49,808,721 (GRCm39)	splice site	probably benign
IGL02645:Nol8	APN	13	49,818,947 (GRCm39)	critical splice donor site	probably null
IGL02949:Nol8	APN	13	49,815,878 (GRCm39)	missense	probably benign	0.01
IGL02954:Nol8	APN	13	49,814,648 (GRCm39)	missense	probably benign	0.01
IGL03182:Nol8	APN	13	49,817,557 (GRCm39)	missense	probably damaging	1.00
IGL03406:Nol8	APN	13	49,815,044 (GRCm39)	missense	probably damaging	1.00
P0047:Nol8	UTSW	13	49,807,824 (GRCm39)	splice site	probably null
R0092:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0099:Nol8	UTSW	13	49,826,165 (GRCm39)	missense	probably benign
R0145:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0269:Nol8	UTSW	13	49,807,921 (GRCm39)	missense	possibly damaging	0.49
R0370:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0374:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0390:Nol8	UTSW	13	49,815,628 (GRCm39)	missense	probably damaging	1.00
R0617:Nol8	UTSW	13	49,807,921 (GRCm39)	missense	possibly damaging	0.49
R0635:Nol8	UTSW	13	49,830,234 (GRCm39)	missense	probably benign	0.05
R0637:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R1246:Nol8	UTSW	13	49,830,245 (GRCm39)	missense	probably damaging	1.00
R1446:Nol8	UTSW	13	49,808,703 (GRCm39)	missense	probably damaging	1.00
R1464:Nol8	UTSW	13	49,830,264 (GRCm39)	missense	probably benign
R1464:Nol8	UTSW	13	49,830,264 (GRCm39)	missense	probably benign
R1627:Nol8	UTSW	13	49,814,980 (GRCm39)	missense	probably benign	0.01
R1703:Nol8	UTSW	13	49,820,933 (GRCm39)	missense	possibly damaging	0.65
R1751:Nol8	UTSW	13	49,820,884 (GRCm39)	missense	probably benign	0.06
R2187:Nol8	UTSW	13	49,815,475 (GRCm39)	missense	probably benign	0.00
R2357:Nol8	UTSW	13	49,807,980 (GRCm39)	critical splice donor site	probably null
R3081:Nol8	UTSW	13	49,831,868 (GRCm39)	unclassified	probably benign
R3969:Nol8	UTSW	13	49,813,492 (GRCm39)	nonsense	probably null
R4199:Nol8	UTSW	13	49,815,224 (GRCm39)	missense	possibly damaging	0.65
R4720:Nol8	UTSW	13	49,816,229 (GRCm39)	missense	probably damaging	1.00
R4927:Nol8	UTSW	13	49,807,901 (GRCm39)	missense	possibly damaging	0.79
R5177:Nol8	UTSW	13	49,814,588 (GRCm39)	missense	probably benign	0.32
R5512:Nol8	UTSW	13	49,830,263 (GRCm39)	missense	probably benign
R5744:Nol8	UTSW	13	49,815,802 (GRCm39)	missense	possibly damaging	0.82
R5988:Nol8	UTSW	13	49,826,090 (GRCm39)	missense	possibly damaging	0.58
R6048:Nol8	UTSW	13	49,807,160 (GRCm39)	critical splice donor site	probably null
R6306:Nol8	UTSW	13	49,829,829 (GRCm39)	missense	probably damaging	1.00
R6359:Nol8	UTSW	13	49,817,546 (GRCm39)	missense	probably benign	0.16
R6378:Nol8	UTSW	13	49,820,831 (GRCm39)	missense	probably damaging	1.00
R6655:Nol8	UTSW	13	49,807,868 (GRCm39)	missense	probably damaging	1.00
R7035:Nol8	UTSW	13	49,814,678 (GRCm39)	missense	probably benign	0.06
R7368:Nol8	UTSW	13	49,814,695 (GRCm39)	missense	probably benign	0.00
R7450:Nol8	UTSW	13	49,813,491 (GRCm39)	missense	probably benign	0.01
R7673:Nol8	UTSW	13	49,818,256 (GRCm39)	missense	probably benign	0.15
R7750:Nol8	UTSW	13	49,815,742 (GRCm39)	missense	possibly damaging	0.83
R8246:Nol8	UTSW	13	49,808,724 (GRCm39)	splice site	probably benign
R9081:Nol8	UTSW	13	49,814,881 (GRCm39)	missense	probably benign	0.00
R9127:Nol8	UTSW	13	49,815,475 (GRCm39)	missense	probably benign	0.00
R9223:Nol8	UTSW	13	49,814,738 (GRCm39)	missense	possibly damaging	0.63
X0020:Nol8	UTSW	13	49,814,641 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTGTGGTCATTTTATAACATGAGC -3'
(R):5'- ATGAACATGCTGGCAGAGGC -3'

Sequencing Primer
(F):5'- TAAGGCTGCCTGGAATTCC -3'
(R):5'- GCACACTTGGCCCTCAGAATG -3'

Posted On

2019-05-13