Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Nutm1'

283820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nutm1

Ensembl Gene

ENSMUSG00000041358

Gene Name

NUT midline carcinoma, family member 1

Synonyms

BC125332, Nut

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

112247948-112259291 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 112249406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 721 (W721*)

Ref Sequence

ENSEMBL: ENSMUSP00000048263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028554] [ENSMUST00000043970]

AlphaFold

Q8BHP2

Predicted Effect

probably benign
Transcript: ENSMUST00000028554

SMART Domains

Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	92	113	N/A	INTRINSIC
PlsC	123	234	5.73e-24	SMART
low complexity region	411	422	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000043970
AA Change: W721*

SMART Domains

Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: W721*

Domain	Start	End	E-Value	Type
Pfam:NUT	14	541	1.4e-210	PFAM
low complexity region	840	854	N/A	INTRINSIC
Pfam:NUT	900	1123	6.7e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129503

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Nutm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Nutm1	APN	2	112251818	missense	probably benign	0.36
IGL02546:Nutm1	APN	2	112248324	missense	probably benign	0.00
IGL02888:Nutm1	APN	2	112250635	missense	probably damaging	1.00
IGL03062:Nutm1	APN	2	112248933	missense	probably benign	0.16
R1024:Nutm1	UTSW	2	112249929	missense	probably benign	0.35
R1314:Nutm1	UTSW	2	112249809	missense	probably benign	0.10
R2061:Nutm1	UTSW	2	112255752	nonsense	probably null
R4092:Nutm1	UTSW	2	112249464	missense	probably damaging	1.00
R4402:Nutm1	UTSW	2	112249809	missense	probably damaging	0.99
R4783:Nutm1	UTSW	2	112248936	missense	probably benign	0.00
R4784:Nutm1	UTSW	2	112248936	missense	probably benign	0.00
R4785:Nutm1	UTSW	2	112248936	missense	probably benign	0.00
R5184:Nutm1	UTSW	2	112249000	missense	possibly damaging	0.57
R5662:Nutm1	UTSW	2	112249300	missense	probably benign	0.01
R5922:Nutm1	UTSW	2	112249314	missense	possibly damaging	0.93
R6053:Nutm1	UTSW	2	112249090	missense	probably benign	0.01
R6344:Nutm1	UTSW	2	112248902	missense	possibly damaging	0.91
R6410:Nutm1	UTSW	2	112248729	missense	possibly damaging	0.75
R6515:Nutm1	UTSW	2	112256320	missense	probably benign	0.01
R6516:Nutm1	UTSW	2	112251217	missense	probably damaging	1.00
R6573:Nutm1	UTSW	2	112251043	critical splice donor site	probably null
R6950:Nutm1	UTSW	2	112248559	missense	probably benign	0.00
R6975:Nutm1	UTSW	2	112256218	missense	probably damaging	1.00
R7033:Nutm1	UTSW	2	112256168	missense	probably damaging	1.00
R7070:Nutm1	UTSW	2	112249461	missense	probably benign
R7072:Nutm1	UTSW	2	112251847	missense	probably benign	0.34
R7140:Nutm1	UTSW	2	112250056	missense	probably damaging	0.98
R7143:Nutm1	UTSW	2	112250056	missense	probably damaging	0.98
R7294:Nutm1	UTSW	2	112250056	missense	probably damaging	0.98
R7296:Nutm1	UTSW	2	112250056	missense	probably damaging	0.98
R7297:Nutm1	UTSW	2	112250056	missense	probably damaging	0.98
R7613:Nutm1	UTSW	2	112249239	missense	probably benign	0.00
R8162:Nutm1	UTSW	2	112248472	missense	probably benign	0.02
R8252:Nutm1	UTSW	2	112251829	missense	probably damaging	1.00
R8713:Nutm1	UTSW	2	112251322	missense	possibly damaging	0.86
R8857:Nutm1	UTSW	2	112251178	missense	probably benign	0.41
R9326:Nutm1	UTSW	2	112248347	missense	possibly damaging	0.86
X0065:Nutm1	UTSW	2	112248627	missense	probably damaging	1.00
X0066:Nutm1	UTSW	2	112248357	missense	probably damaging	1.00
Z1177:Nutm1	UTSW	2	112255716	missense	probably damaging	1.00

Posted On

2015-04-16