Mutagenetix > Incidental Mutations

Incidental Mutation 'R2115:Nmi'

232994

Institutional Source

Beutler Lab

Gene Symbol

Nmi

Ensembl Gene

ENSMUSG00000026946

Gene Name

N-myc (and STAT) interactor

Synonyms

MMRRC Submission

040119-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51948487-51973494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51948707 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 272 (T272A)

Ref Sequence

ENSEMBL: ENSMUSP00000120647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028314] [ENSMUST00000112705] [ENSMUST00000142868] [ENSMUST00000145481]

Predicted Effect

probably benign
Transcript: ENSMUST00000028314
AA Change: T272A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028314
Gene: ENSMUSG00000026946
AA Change: T272A

Domain	Start	End	E-Value	Type
Pfam:IFP_35_N	30	105	7.6e-39	PFAM
Pfam:NID	106	193	3.7e-49	PFAM
Pfam:NID	204	292	1.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112705
AA Change: T272A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108325
Gene: ENSMUSG00000026946
AA Change: T272A

Domain	Start	End	E-Value	Type
Pfam:IFP_35_N	30	105	7.6e-39	PFAM
Pfam:NID	106	193	3.7e-49	PFAM
Pfam:NID	204	292	1.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142868

SMART Domains

Protein: ENSMUSP00000115428
Gene: ENSMUSG00000026946

Domain	Start	End	E-Value	Type
Pfam:NID	1	26	3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145481
AA Change: T272A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120647
Gene: ENSMUSG00000026946
AA Change: T272A

Domain	Start	End	E-Value	Type
Pfam:IFP_35_N	30	105	3.7e-41	PFAM
Pfam:NID	106	193	7.3e-34	PFAM
Pfam:NID	204	292	2.9e-33	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,472	D48G	possibly damaging	Het
Aatk	T	C	11: 120,009,736	T1195A	probably benign	Het
Abca12	A	T	1: 71,244,771	N2547K	probably benign	Het
Abca16	A	C	7: 120,540,645	E1510A	probably damaging	Het
Adam5	A	G	8: 24,744,145		probably benign	Het
Akna	G	A	4: 63,395,160	P242L	probably benign	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,634,308	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Atxn1l	C	T	8: 109,732,608	A341T	probably benign	Het
Birc7	C	A	2: 180,930,849	Q138K	possibly damaging	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Chad	C	T	11: 94,568,226	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534		probably null	Het
Dirc2	T	C	16: 35,697,939	D468G	probably benign	Het
Dnah17	C	T	11: 118,119,802	C230Y	probably benign	Het
Dnmt3l	C	A	10: 78,063,296	L110I	probably damaging	Het
Dusp11	T	C	6: 85,958,669	D74G	probably damaging	Het
Eif3m	T	C	2: 105,006,796	T61A	probably damaging	Het
Esyt1	T	A	10: 128,522,104	D212V	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
F13a1	A	T	13: 36,988,857	I183N	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,661,503	N68K	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm1527	T	C	3: 28,917,949	L405P	probably benign	Het
Gm4981	T	C	10: 58,236,251	D47G	possibly damaging	Het
Heatr6	T	A	11: 83,757,455		probably benign	Het
Herc2	T	C	7: 56,185,828		probably benign	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,303,294	R60Q	probably benign	Het
Katnal2	T	C	18: 76,980,091	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,552,963	L755F	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
Kifc3	A	G	8: 95,108,713	Y178H	probably damaging	Het
Krit1	A	T	5: 3,822,108	R378*	probably null	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lama3	C	A	18: 12,402,849	T204N	possibly damaging	Het
Lama5	A	G	2: 180,186,885	C2090R	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mipep	T	C	14: 60,787,380	V90A	probably damaging	Het
Myo3a	A	T	2: 22,245,531	I70F	probably damaging	Het
Napa	A	G	7: 16,114,209	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,717,564	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,171,839	V13E	probably damaging	Het
Nptx2	G	C	5: 144,555,406	G331A	probably damaging	Het
Olfr1228	T	C	2: 89,249,530	I55V	probably damaging	Het
Olfr183	T	C	16: 59,000,420	L245P	possibly damaging	Het
Olfr450	A	G	6: 42,817,497	T9A	possibly damaging	Het
Olfr854	T	C	9: 19,567,322	T18A	probably benign	Het
Parp14	T	C	16: 35,858,534	T355A	probably benign	Het
Pcdh12	T	C	18: 38,283,986	T29A	probably damaging	Het
Pced1b	T	A	15: 97,384,624	C181*	probably null	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581		probably benign	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,718,987		probably benign	Het
Ppfia2	A	T	10: 106,762,111	K178N	probably damaging	Het
Prkag1	T	C	15: 98,814,552	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,447,156	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rassf9	A	G	10: 102,544,945	T63A	probably benign	Het
Rdh11	G	T	12: 79,176,222	Q292K	probably benign	Het
Rere	C	A	4: 150,612,561		probably benign	Het
Rgs18	G	T	1: 144,753,891	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,428,013	N1099S	probably benign	Het
Ros1	T	C	10: 52,128,555	I969V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rrp12	C	T	19: 41,891,094	V174I	probably benign	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Sbk3	A	G	7: 4,967,416	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Sec23ip	G	A	7: 128,762,461	V488I	probably benign	Het
Serpine3	T	C	14: 62,673,010	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,198,824	T512A	possibly damaging	Het
Smpd4	T	C	16: 17,626,865	Y118H	probably benign	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,212,053	V120I	probably benign	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Utp20	T	C	10: 88,786,003	D1136G	probably benign	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Yars	T	G	4: 129,207,923		probably null	Het
Zfp472	A	G	17: 32,978,014	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	probably damaging	Het

Other mutations in Nmi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01967:Nmi	APN	2	51956040	splice site	probably null
IGL02041:Nmi	APN	2	51960629	missense	possibly damaging	0.72
IGL02299:Nmi	APN	2	51958964	missense	probably damaging	1.00
IGL03144:Nmi	APN	2	51952534	missense	probably damaging	1.00
R1589:Nmi	UTSW	2	51958977	missense	possibly damaging	0.62
R1961:Nmi	UTSW	2	51948620	missense	probably benign	0.01
R2114:Nmi	UTSW	2	51948707	missense	probably benign	0.30
R2116:Nmi	UTSW	2	51948707	missense	probably benign	0.30
R2151:Nmi	UTSW	2	51952543	missense	probably damaging	1.00
R2153:Nmi	UTSW	2	51952543	missense	probably damaging	1.00
R3964:Nmi	UTSW	2	51956069	missense	possibly damaging	0.85
R4195:Nmi	UTSW	2	51948620	missense	probably benign	0.00
R4650:Nmi	UTSW	2	51948634	missense	probably benign	0.33
R6573:Nmi	UTSW	2	51950069	missense	possibly damaging	0.55
R7129:Nmi	UTSW	2	51955924	critical splice donor site	probably null
R7369:Nmi	UTSW	2	51950084	missense	possibly damaging	0.85
R7520:Nmi	UTSW	2	51952480	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGTAAACACACAGCAGAGCTC -3'
(R):5'- CAAACTCAAGTCTCCTTGTGGC -3'

Sequencing Primer
(F):5'- TTTGCATCAAAGAGTAAGAAGACAC -3'
(R):5'- GTGGCCTTCTCGTGCTTGAAC -3'

Posted On

2014-09-18