Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01557:Nutm1'

90757

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 #

IGL01557

Quality Score

Status

Chromosome

Chromosomal Location

112247948-112259291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112251818 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 304 (N304K)

Ref Sequence

ENSEMBL: ENSMUSP00000048263 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000043970
AA Change: N304K

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: N304K

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,968,720		probably null	Het
Arl9	T	G	5: 77,004,101		probably null	Het
Ces3a	C	A	8: 105,057,751	T439K	probably damaging	Het
Cyp3a25	A	G	5: 145,984,901	W408R	probably damaging	Het
Defb22	T	G	2: 152,486,079	D62A	possibly damaging	Het
Dnah17	C	T	11: 118,073,686	R2422Q	probably damaging	Het
Ehd3	A	G	17: 73,805,280	K13R	probably benign	Het
Fndc1	T	C	17: 7,756,389	E1406G	probably damaging	Het
Gak	A	C	5: 108,584,337	Y762D	probably damaging	Het
Igf2r	A	G	17: 12,704,635	S1187P	possibly damaging	Het
Ighmbp2	T	C	19: 3,281,472	E68G	probably benign	Het
Itpr2	T	C	6: 146,158,976	T2448A	probably damaging	Het
Lrrk2	T	G	15: 91,699,989	C317W	probably damaging	Het
Morc1	T	A	16: 48,498,766	S278T	probably damaging	Het
Mrps9	T	C	1: 42,851,350	V20A	probably benign	Het
Olfr761	G	A	17: 37,952,851	P58S	probably damaging	Het
Pcdhb9	T	C	18: 37,403,047	V698A	probably damaging	Het
Pitrm1	C	A	13: 6,552,684	D70E	probably benign	Het
Pkhd1	T	C	1: 20,116,979	T3702A	possibly damaging	Het
Ppm1h	A	T	10: 122,782,181		probably null	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Ptpn5	T	C	7: 47,081,888	Y411C	probably damaging	Het
Spon2	G	A	5: 33,216,703	A112V	probably damaging	Het
Zfp648	T	A	1: 154,204,680	V195D	probably benign	Het

Other mutations in Nutm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02190:Nutm1	APN	2	112249406	nonsense	probably null
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
X0065:Nutm1	UTSW	2	112248627	missense	probably damaging	1.00
X0066:Nutm1	UTSW	2	112248357	missense	probably damaging	1.00

Posted On

2013-12-09