Mutagenetix > Incidental Mutation

Incidental Mutation 'R6950:Nutm1'

541196

Institutional Source

Beutler Lab

Gene Symbol

Nutm1

Ensembl Gene

ENSMUSG00000041358

Gene Name

NUT midline carcinoma, family member 1

Synonyms

Nut, BC125332

MMRRC Submission

045062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112078293-112089636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112078904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1004 (T1004S)

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 benign
Transcript: ENSMUST00000043970
AA Change: T1004S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: T1004S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,229,480 (GRCm39)	V404D	probably damaging	Het
Adcy2	A	G	13: 69,036,184 (GRCm39)	M159T	possibly damaging	Het
Agtpbp1	T	C	13: 59,598,080 (GRCm39)	K674R	probably benign	Het
Atxn7	C	A	14: 14,095,511 (GRCm38)	P403H	probably damaging	Het
Cav3	C	T	6: 112,449,171 (GRCm39)	T63I	probably damaging	Het
Ccr6	T	C	17: 8,475,898 (GRCm39)	*368Q	probably null	Het
Cdh8	A	T	8: 99,757,395 (GRCm39)	N734K	probably benign	Het
Ces5a	G	T	8: 94,257,402 (GRCm39)	N134K	probably benign	Het
Cisd3	T	G	11: 97,576,986 (GRCm39)		probably null	Het
Cyp4f39	T	G	17: 32,711,280 (GRCm39)	C476G	probably damaging	Het
Dffb	A	T	4: 154,054,549 (GRCm39)	M180K	probably benign	Het
Dock4	A	G	12: 40,783,313 (GRCm39)	E749G	possibly damaging	Het
Eogt	A	G	6: 97,111,343 (GRCm39)	F173L	possibly damaging	Het
Ephb1	T	A	9: 102,072,108 (GRCm39)	T224S	probably benign	Het
Fam114a1	A	T	5: 65,137,322 (GRCm39)	E88D	possibly damaging	Het
Fbn2	A	C	18: 58,168,993 (GRCm39)	M2262R	probably null	Het
Fsip2	A	G	2: 82,816,332 (GRCm39)	I4022V	probably benign	Het
Gapvd1	A	G	2: 34,574,257 (GRCm39)	V1301A	probably benign	Het
Gch1	A	T	14: 47,426,723 (GRCm39)	M1K	probably null	Het
Hes1	T	C	16: 29,886,089 (GRCm39)	F231S	probably damaging	Het
Hoxb2	A	G	11: 96,242,727 (GRCm39)	T31A	probably benign	Het
Ifngr1	T	A	10: 19,483,041 (GRCm39)	V265D	probably damaging	Het
Ifnl3	A	T	7: 28,222,432 (GRCm39)	I58F	probably benign	Het
Igf2r	T	C	17: 12,937,605 (GRCm39)	T561A	probably benign	Het
Igfbpl1	T	A	4: 45,815,494 (GRCm39)	H214L	probably damaging	Het
Irf8	A	G	8: 121,481,864 (GRCm39)	T318A	probably benign	Het
Kmt2d	T	C	15: 98,737,901 (GRCm39)		probably benign	Het
Lratd2	T	C	15: 60,695,563 (GRCm39)	D61G	probably benign	Het
Lrrc36	G	T	8: 106,152,021 (GRCm39)		probably null	Het
Msl2	C	T	9: 100,979,174 (GRCm39)	P516L	possibly damaging	Het
Naaladl1	A	T	19: 6,156,011 (GRCm39)	I62F	probably damaging	Het
Neto2	G	T	8: 86,397,072 (GRCm39)	P60Q	probably damaging	Het
Nipsnap3b	A	T	4: 53,015,136 (GRCm39)	H61L	possibly damaging	Het
Npb	T	C	11: 120,499,473 (GRCm39)	F47L	probably benign	Het
Or4a78	T	A	2: 89,497,895 (GRCm39)	I112F	probably benign	Het
Or4z4	A	G	19: 12,076,754 (GRCm39)	V83A	probably benign	Het
Or8c17	A	T	9: 38,179,842 (GRCm39)	N3I	probably damaging	Het
Oxr1	C	A	15: 41,683,951 (GRCm39)	A439E	probably benign	Het
Phf14	A	T	6: 12,006,854 (GRCm39)	K835N	probably damaging	Het
Prkdc	T	A	16: 15,633,850 (GRCm39)	V3518E	probably damaging	Het
Ptpru	T	A	4: 131,503,663 (GRCm39)	E1132D	probably damaging	Het
Rapgef6	T	A	11: 54,567,206 (GRCm39)	M1129K	probably benign	Het
Rgmb	T	C	17: 16,028,048 (GRCm39)	K224E	probably damaging	Het
Ryr3	T	C	2: 112,517,170 (GRCm39)	I3318V	possibly damaging	Het
Slc9a4	A	G	1: 40,642,045 (GRCm39)	Y338C	probably damaging	Het
Smg5	T	C	3: 88,256,576 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,693,514 (GRCm39)	Y1789*	probably null	Het
Tgm7	T	C	2: 120,924,128 (GRCm39)	E598G	probably damaging	Het
Tiam1	C	T	16: 89,657,092 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,790,948 (GRCm39)	N166S	probably benign	Het
Trp73	G	T	4: 154,146,510 (GRCm39)	N368K	probably benign	Het
Trpc3	C	T	3: 36,692,739 (GRCm39)	R751H	probably damaging	Het
Trpm4	C	A	7: 44,968,704 (GRCm39)	A410S	probably damaging	Het
Ube2t	T	G	1: 134,899,095 (GRCm39)		probably null	Het
Vmn2r114	C	T	17: 23,529,137 (GRCm39)	A322T	probably benign	Het
Xylt2	C	T	11: 94,558,455 (GRCm39)	R567H	probably benign	Het
Zfp119b	T	C	17: 56,246,137 (GRCm39)	K318E	probably damaging	Het
Zfp626	T	G	7: 27,518,339 (GRCm39)	L440R	probably damaging	Het
Zfp850	A	G	7: 27,689,939 (GRCm39)	S90P	possibly damaging	Het

Other mutations in Nutm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Nutm1	APN	2	112,082,163 (GRCm39)	missense	probably benign	0.36
IGL02190:Nutm1	APN	2	112,079,751 (GRCm39)	nonsense	probably null
IGL02546:Nutm1	APN	2	112,078,669 (GRCm39)	missense	probably benign	0.00
IGL02888:Nutm1	APN	2	112,080,980 (GRCm39)	missense	probably damaging	1.00
IGL03062:Nutm1	APN	2	112,079,278 (GRCm39)	missense	probably benign	0.16
R1024:Nutm1	UTSW	2	112,080,274 (GRCm39)	missense	probably benign	0.35
R1314:Nutm1	UTSW	2	112,080,154 (GRCm39)	missense	probably benign	0.10
R2061:Nutm1	UTSW	2	112,086,097 (GRCm39)	nonsense	probably null
R4092:Nutm1	UTSW	2	112,079,809 (GRCm39)	missense	probably damaging	1.00
R4402:Nutm1	UTSW	2	112,080,154 (GRCm39)	missense	probably damaging	0.99
R4783:Nutm1	UTSW	2	112,079,281 (GRCm39)	missense	probably benign	0.00
R4784:Nutm1	UTSW	2	112,079,281 (GRCm39)	missense	probably benign	0.00
R4785:Nutm1	UTSW	2	112,079,281 (GRCm39)	missense	probably benign	0.00
R5184:Nutm1	UTSW	2	112,079,345 (GRCm39)	missense	possibly damaging	0.57
R5662:Nutm1	UTSW	2	112,079,645 (GRCm39)	missense	probably benign	0.01
R5922:Nutm1	UTSW	2	112,079,659 (GRCm39)	missense	possibly damaging	0.93
R6053:Nutm1	UTSW	2	112,079,435 (GRCm39)	missense	probably benign	0.01
R6344:Nutm1	UTSW	2	112,079,247 (GRCm39)	missense	possibly damaging	0.91
R6410:Nutm1	UTSW	2	112,079,074 (GRCm39)	missense	possibly damaging	0.75
R6515:Nutm1	UTSW	2	112,086,665 (GRCm39)	missense	probably benign	0.01
R6516:Nutm1	UTSW	2	112,081,562 (GRCm39)	missense	probably damaging	1.00
R6573:Nutm1	UTSW	2	112,081,388 (GRCm39)	critical splice donor site	probably null
R6975:Nutm1	UTSW	2	112,086,563 (GRCm39)	missense	probably damaging	1.00
R7033:Nutm1	UTSW	2	112,086,513 (GRCm39)	missense	probably damaging	1.00
R7070:Nutm1	UTSW	2	112,079,806 (GRCm39)	missense	probably benign
R7072:Nutm1	UTSW	2	112,082,192 (GRCm39)	missense	probably benign	0.34
R7140:Nutm1	UTSW	2	112,080,401 (GRCm39)	missense	probably damaging	0.98
R7143:Nutm1	UTSW	2	112,080,401 (GRCm39)	missense	probably damaging	0.98
R7294:Nutm1	UTSW	2	112,080,401 (GRCm39)	missense	probably damaging	0.98
R7296:Nutm1	UTSW	2	112,080,401 (GRCm39)	missense	probably damaging	0.98
R7297:Nutm1	UTSW	2	112,080,401 (GRCm39)	missense	probably damaging	0.98
R7613:Nutm1	UTSW	2	112,079,584 (GRCm39)	missense	probably benign	0.00
R8162:Nutm1	UTSW	2	112,078,817 (GRCm39)	missense	probably benign	0.02
R8252:Nutm1	UTSW	2	112,082,174 (GRCm39)	missense	probably damaging	1.00
R8713:Nutm1	UTSW	2	112,081,667 (GRCm39)	missense	possibly damaging	0.86
R8857:Nutm1	UTSW	2	112,081,523 (GRCm39)	missense	probably benign	0.41
R9326:Nutm1	UTSW	2	112,078,692 (GRCm39)	missense	possibly damaging	0.86
X0065:Nutm1	UTSW	2	112,078,972 (GRCm39)	missense	probably damaging	1.00
X0066:Nutm1	UTSW	2	112,078,702 (GRCm39)	missense	probably damaging	1.00
Z1177:Nutm1	UTSW	2	112,086,061 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTAGGGCTTGCTTCCCAG -3'
(R):5'- CAGGGAAGATACTGTTTCCTCC -3'

Sequencing Primer
(F):5'- AGGGCTTGCTTCCCAGACTTG -3'
(R):5'- GGGAAGATACTGTTTCCTCCAAACC -3'

Posted On

2018-11-28