Mutagenetix > Incidental Mutation

Incidental Mutation 'R7467:Nolc1'

578917

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46082334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 325 (T325A)

Ref Sequence

ENSEMBL: ENSMUSP00000128331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165017] [ENSMUST00000223728] [ENSMUST00000223741] [ENSMUST00000224490] [ENSMUST00000225780]

AlphaFold

E9Q5C9

Predicted Effect

unknown
Transcript: ENSMUST00000165017
AA Change: T325A

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
AA Change: T325A

Domain	Start	End	E-Value	Type
LisH	10	42	2.3e-2	SMART
low complexity region	76	100	N/A	INTRINSIC
low complexity region	123	187	N/A	INTRINSIC
low complexity region	189	210	N/A	INTRINSIC
low complexity region	224	272	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
low complexity region	297	313	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	329	342	N/A	INTRINSIC
low complexity region	353	383	N/A	INTRINSIC
low complexity region	429	470	N/A	INTRINSIC
low complexity region	472	486	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
low complexity region	509	538	N/A	INTRINSIC
low complexity region	558	579	N/A	INTRINSIC
Pfam:SRP40_C	627	699	1.1e-32	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000223728
AA Change: T323A

Predicted Effect

probably benign
Transcript: ENSMUST00000223741

Predicted Effect

probably benign
Transcript: ENSMUST00000224490

Predicted Effect

unknown
Transcript: ENSMUST00000225780
AA Change: T324A

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (103/105)

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 55,791,952	V153I	probably benign	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Aldh16a1	A	G	7: 45,145,907	Y443H	probably benign	Het
Apbb1	A	G	7: 105,566,132	V434A	probably benign	Het
Atrip	A	G	9: 109,069,354	M199T	probably damaging	Het
Atxn2	T	C	5: 121,802,267		probably null	Het
AU040320	A	G	4: 126,814,310	T240A	probably benign	Het
Btf3l4	A	T	4: 108,818,392		probably null	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Cdk15	G	T	1: 59,289,779	W282L	probably null	Het
Cflar	T	A	1: 58,726,438	M1K	probably null	Het
Champ1	C	A	8: 13,878,579	P246T	possibly damaging	Het
Crat	A	C	2: 30,409,982	F129V	probably damaging	Het
Csmd3	T	C	15: 47,629,244	N2256S		Het
Cwh43	C	A	5: 73,411,968	Q118K	probably damaging	Het
Daam1	A	T	12: 71,985,806	K949*	probably null	Het
Ddn	C	G	15: 98,805,366	E682Q	possibly damaging	Het
Des	T	A	1: 75,362,961	M321K	possibly damaging	Het
Dnm2	T	C	9: 21,481,376	V460A	probably damaging	Het
Dst	G	A	1: 34,191,155	E2610K	probably benign	Het
Efr3a	C	T	15: 65,857,511	T660I	possibly damaging	Het
Eogt	T	C	6: 97,142,833	E138G	probably benign	Het
Epha8	G	A	4: 136,931,088	A992V	possibly damaging	Het
Exoc2	A	T	13: 30,925,733	D217E	probably damaging	Het
Fam222b	T	C	11: 78,154,347	S245P	probably damaging	Het
Fbxo45	T	C	16: 32,238,521	Y185C	probably damaging	Het
Fbxo47	T	C	11: 97,865,167	T170A	probably benign	Het
Fbxw26	A	T	9: 109,732,697	V143E	probably benign	Het
Foxb2	T	C	19: 16,873,640	M1V	probably null	Het
Gm11596	C	A	11: 99,793,136	V53L	unknown	Het
Gm37596	T	A	3: 93,692,958	T35S	probably benign	Het
Gm47791	A	G	1: 82,770,826	*140Q	probably null	Het
Gpr179	C	T	11: 97,335,289	M2013I	probably benign	Het
Hck	T	A	2: 153,129,930	L137*	probably null	Het
Hectd4	T	A	5: 121,323,961	C964S	possibly damaging	Het
Hexa	T	C	9: 59,557,400		probably null	Het
Ifna12	C	A	4: 88,603,265	S15I	possibly damaging	Het
Kif18b	C	A	11: 102,916,408	V34L	probably damaging	Het
Kif18b	A	T	11: 102,912,348		probably null	Het
Kifap3	A	T	1: 163,815,833	H209L	probably benign	Het
Klhl1	A	T	14: 96,123,277	D712E	probably damaging	Het
Kmt2c	T	C	5: 25,308,532	D3088G	probably damaging	Het
Mageb3	A	G	2: 121,954,472	Y250H	probably damaging	Het
Manba	G	T	3: 135,544,801	E396D	probably damaging	Het
Mapkbp1	T	A	2: 120,022,188	V997E	probably damaging	Het
Mdc1	A	G	17: 35,844,556	H41R	probably benign	Het
Mis18a	T	G	16: 90,719,978	M179L	probably benign	Het
Mmp25	C	G	17: 23,644,782	G25R	possibly damaging	Het
Mmp3	A	G	9: 7,447,621	D202G	possibly damaging	Het
Mmp3	C	T	9: 7,450,125	P286S	probably benign	Het
Mrgpra2b	G	A	7: 47,464,529	H152Y	possibly damaging	Het
Mslnl	A	T	17: 25,736,921	M1L	probably benign	Het
Myo1d	G	A	11: 80,586,917	T880I	probably damaging	Het
Ncaph	T	A	2: 127,133,875		probably benign	Het
Nln	T	C	13: 104,025,022	D680G	possibly damaging	Het
Noct	C	T	3: 51,225,201	A33V	probably benign	Het
Nr2e3	A	G	9: 59,949,151		probably null	Het
Nrg2	T	A	18: 36,022,406	H450L	probably benign	Het
Olfr1414	T	A	1: 92,511,848	Y60F	possibly damaging	Het
Olfr1434	T	A	19: 12,283,475	C142*	probably null	Het
Olfr224	A	C	11: 58,566,462	N294K	possibly damaging	Het
Olfr532	T	C	7: 140,419,374	N133S	probably benign	Het
Olfr994	T	G	2: 85,430,827	M1L	possibly damaging	Het
Pank2	T	A	2: 131,274,047	N128K	possibly damaging	Het
Pcdha3	T	C	18: 36,947,531	V442A	probably damaging	Het
Pds5b	T	A	5: 150,736,327	S252T	probably damaging	Het
Pfpl	T	C	19: 12,428,514	L43S	probably damaging	Het
Pigu	T	A	2: 155,299,089	I295F	probably damaging	Het
Piwil4	T	C	9: 14,705,041	Y673C	probably damaging	Het
Pls1	A	G	9: 95,769,113	Y414H	possibly damaging	Het
Ppp1r13l	A	T	7: 19,371,380	Q359L	probably damaging	Het
Ppp2r5c	A	G	12: 110,552,883	Y263C	probably damaging	Het
Prrc2c	A	T	1: 162,677,363	S2638R	possibly damaging	Het
Prss39	T	A	1: 34,499,392		probably null	Het
Psmd1	G	A	1: 86,116,633	V648M	probably damaging	Het
Rad50	T	C	11: 53,654,908	D1196G	probably damaging	Het
Rfx1	T	C	8: 84,073,913	Y48H	possibly damaging	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rpl9	T	C	5: 65,390,967	T9A	probably benign	Het
Samd4	A	G	14: 47,087,856	N598D	probably benign	Het
Sema7a	T	C	9: 57,961,422	Y606H	probably damaging	Het
Sf3b3	A	G	8: 110,811,456	S1150P	possibly damaging	Het
Sirt1	T	C	10: 63,322,150	N495S	probably benign	Het
Slc17a3	T	C	13: 23,846,967		probably null	Het
Slc25a22	T	C	7: 141,433,976	T24A	probably benign	Het
Slc30a9	T	C	5: 67,345,644	I363T	probably benign	Het
Srbd1	A	G	17: 86,099,274	V561A	probably damaging	Het
Srgap1	C	A	10: 121,855,439	E297*	probably null	Het
Srgap2	T	C	1: 131,292,667	S896G	probably damaging	Het
Sspo	T	C	6: 48,486,303	C3730R	probably damaging	Het
Stat2	T	A	10: 128,277,903		probably null	Het
Tcof1	T	C	18: 60,831,905	K581E	unknown	Het
Thbs1	T	C	2: 118,118,200	S446P	probably damaging	Het
Thsd7a	T	C	6: 12,331,585	Y1330C		Het
Tmem121	C	A	12: 113,189,070	P303T	probably benign	Het
Tmem87b	T	A	2: 128,849,151		probably null	Het
Tmem98	A	T	11: 80,820,185		probably null	Het
Trpm3	T	A	19: 22,978,334	I1091N	possibly damaging	Het
Urb2	A	G	8: 124,028,511	E319G	probably benign	Het
Vmn1r170	A	T	7: 23,606,895	M241L	not run	Het
Vmn1r238	T	C	18: 3,123,393	N7S	probably benign	Het
Wdr6	T	C	9: 108,573,002	H1109R	probably benign	Het
Zdhhc13	T	C	7: 48,804,408	V193A	probably benign	Het
Zfp354c	T	C	11: 50,815,426	Y274C	probably damaging	Het
Zfp738	T	A	13: 67,672,961	E89V	probably benign	Het
Zswim3	T	A	2: 164,819,875	F92I	possibly damaging	Het

Other mutations in Nolc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02679:Nolc1	APN	19	46083029	unclassified	probably benign
FR4976:Nolc1	UTSW	19	46081356	small insertion	probably benign
FR4976:Nolc1	UTSW	19	46081375	small insertion	probably benign
R0106:Nolc1	UTSW	19	46080089	splice site	probably benign
R0121:Nolc1	UTSW	19	46081378	unclassified	probably benign
R0140:Nolc1	UTSW	19	46081378	unclassified	probably benign
R0501:Nolc1	UTSW	19	46078920	missense	probably damaging	1.00
R0513:Nolc1	UTSW	19	46084159	missense	probably damaging	1.00
R0676:Nolc1	UTSW	19	46080089	splice site	probably benign
R1553:Nolc1	UTSW	19	46081375	small insertion	probably benign
R1642:Nolc1	UTSW	19	46079022	critical splice donor site	probably null
R1698:Nolc1	UTSW	19	46081431	splice site	probably null
R2067:Nolc1	UTSW	19	46083607	missense	probably damaging	1.00
R2113:Nolc1	UTSW	19	46081359	small insertion	probably benign
R2113:Nolc1	UTSW	19	46081361	small insertion	probably benign
R2300:Nolc1	UTSW	19	46081359	small insertion	probably benign
R2300:Nolc1	UTSW	19	46081368	small insertion	probably benign
R2895:Nolc1	UTSW	19	46081352	small insertion	probably benign
R2999:Nolc1	UTSW	19	46083155	small deletion	probably benign
R3737:Nolc1	UTSW	19	46081353	small insertion	probably benign
R3737:Nolc1	UTSW	19	46081370	small insertion	probably benign
R3737:Nolc1	UTSW	19	46081377	small insertion	probably benign
R3747:Nolc1	UTSW	19	46081356	small insertion	probably benign
R3806:Nolc1	UTSW	19	46081352	small insertion	probably benign
R3807:Nolc1	UTSW	19	46081352	small insertion	probably benign
R3807:Nolc1	UTSW	19	46081359	small insertion	probably benign
R3807:Nolc1	UTSW	19	46081371	small insertion	probably benign
R4035:Nolc1	UTSW	19	46081358	small insertion	probably benign
R4619:Nolc1	UTSW	19	46083520	missense	probably damaging	1.00
R4856:Nolc1	UTSW	19	46083155	small deletion	probably benign
R4999:Nolc1	UTSW	19	46078920	missense	probably damaging	1.00
R5103:Nolc1	UTSW	19	46081664	nonsense	probably null
R5559:Nolc1	UTSW	19	46083155	small deletion	probably benign
R5837:Nolc1	UTSW	19	46083183	unclassified	probably benign
R6457:Nolc1	UTSW	19	46083070	unclassified	probably benign
R7497:Nolc1	UTSW	19	46082818	missense	probably benign	0.23
R8011:Nolc1	UTSW	19	46081584	missense	unknown
R8806:Nolc1	UTSW	19	46083032	missense	unknown
RF027:Nolc1	UTSW	19	46081363	small insertion	probably benign
RF031:Nolc1	UTSW	19	46081371	small insertion	probably benign
RF034:Nolc1	UTSW	19	46081371	small insertion	probably benign
RF040:Nolc1	UTSW	19	46081363	small insertion	probably benign
RF044:Nolc1	UTSW	19	46081371	small insertion	probably benign
X0050:Nolc1	UTSW	19	46081352	small deletion	probably benign
Y5377:Nolc1	UTSW	19	46081369	small insertion	probably benign
Y5379:Nolc1	UTSW	19	46081359	small insertion	probably benign
Z1088:Nolc1	UTSW	19	46083098	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCCGGTAGACAGAGTCAG -3'
(R):5'- TCTGGGGAGAAATTGTGACATTAGG -3'

Sequencing Primer
(F):5'- TTAAACCCAGGGATTCGTGC -3'
(R):5'- AAATTGTGACATTAGGATGGGTCC -3'

Posted On

2019-10-07