Mutagenetix > Incidental Mutation

Incidental Mutation 'R6682:Nim1k'

527552

Institutional Source

Beutler Lab

Gene Symbol

Nim1k

Ensembl Gene

ENSMUSG00000095930

Gene Name

NIM1 serine/threonine protein kinase

Synonyms

Nim1, E130304F04Rik

MMRRC Submission

044801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120171630-120217418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120173724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 390 (I390T)

Ref Sequence

ENSEMBL: ENSMUSP00000136377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178142] [ENSMUST00000179869] [ENSMUST00000224188]

AlphaFold

Q8BHI9

Predicted Effect

probably benign
Transcript: ENSMUST00000178142
AA Change: I390T

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136377
Gene: ENSMUSG00000095930
AA Change: I390T

Domain	Start	End	E-Value	Type
S_TKc	74	325	8.66e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179869

SMART Domains

Protein: ENSMUSP00000136944
Gene: ENSMUSG00000093930

Domain	Start	End	E-Value	Type
Pfam:HMG_CoA_synt_N	13	186	4e-111	PFAM
Pfam:HMG_CoA_synt_C	187	469	4e-134	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224188

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	C	1: 139,385,460 (GRCm39)	V368A	possibly damaging	Het
Bcl9l	A	G	9: 44,412,400 (GRCm39)	T92A	possibly damaging	Het
Celsr2	A	T	3: 108,307,817 (GRCm39)		probably null	Het
Cndp2	T	C	18: 84,695,455 (GRCm39)	K149E	probably benign	Het
Cnpy4	T	C	5: 138,185,984 (GRCm39)		probably null	Het
Cox6c	A	T	15: 35,938,319 (GRCm39)		probably null	Het
Cpt2	G	T	4: 107,761,627 (GRCm39)	S158R	probably damaging	Het
Dlgap1	A	G	17: 71,094,118 (GRCm39)	K813R	probably damaging	Het
Dock10	A	C	1: 80,490,338 (GRCm39)	L1927R	probably damaging	Het
Gak	T	A	5: 108,746,742 (GRCm39)	K430I	probably damaging	Het
Grik3	T	A	4: 125,544,259 (GRCm39)	Y327N	probably damaging	Het
Ldb3	T	A	14: 34,274,221 (GRCm39)	T334S	possibly damaging	Het
Ldlr	A	G	9: 21,643,671 (GRCm39)	D85G	probably benign	Het
Med26	T	A	8: 73,249,927 (GRCm39)	T391S	probably benign	Het
Mmp27	A	G	9: 7,573,606 (GRCm39)	T233A	probably benign	Het
Mob1a	A	G	6: 83,311,132 (GRCm39)	Y117C	possibly damaging	Het
Mrps35	A	T	6: 146,949,777 (GRCm39)	E97V	possibly damaging	Het
Msln	A	T	17: 25,971,993 (GRCm39)	S75T	probably damaging	Het
Myoz1	C	T	14: 20,703,687 (GRCm39)		probably null	Het
Or10k2	A	G	8: 84,268,187 (GRCm39)	H138R	probably benign	Het
Or4k51	C	T	2: 111,584,980 (GRCm39)	P129S	probably damaging	Het
Pclo	A	C	5: 14,589,893 (GRCm39)	Q731P	unknown	Het
Prl3d3	G	A	13: 27,345,023 (GRCm39)	E132K	probably benign	Het
Pth1r	C	T	9: 110,556,319 (GRCm39)		probably null	Het
Ptpru	T	C	4: 131,548,093 (GRCm39)	M135V	probably benign	Het
Slc12a9	A	T	5: 137,325,663 (GRCm39)	L316Q	probably damaging	Het
Slc35f6	G	A	5: 30,814,764 (GRCm39)	M177I	possibly damaging	Het
Smc4	T	A	3: 68,914,574 (GRCm39)	S62R	probably damaging	Het
Tmem179	C	T	12: 112,469,714 (GRCm39)	D29N	probably benign	Het
Togaram2	A	T	17: 72,011,749 (GRCm39)	D476V	probably benign	Het
Trpc4ap	C	T	2: 155,479,687 (GRCm39)		probably null	Het
Trpm8	C	A	1: 88,254,224 (GRCm39)	T149K	probably damaging	Het
Uhmk1	C	T	1: 170,039,804 (GRCm39)		probably null	Het
Vmn2r79	C	A	7: 86,653,370 (GRCm39)	T545K	possibly damaging	Het
Vmn2r95	C	A	17: 18,660,489 (GRCm39)	N300K	probably damaging	Het
Wdr41	G	A	13: 95,149,639 (GRCm39)	G419D	probably damaging	Het
Zc3hav1	A	T	6: 38,302,130 (GRCm39)	H597Q	probably benign	Het
Zfp704	T	C	3: 9,630,253 (GRCm39)	E36G	probably benign	Het
Zfp9	A	G	6: 118,444,202 (GRCm39)	V47A	possibly damaging	Het

Other mutations in Nim1k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1334:Nim1k	UTSW	13	120,174,024 (GRCm39)	missense	probably benign	0.05
R1782:Nim1k	UTSW	13	120,173,687 (GRCm39)	missense	probably benign	0.00
R2216:Nim1k	UTSW	13	120,175,751 (GRCm39)	missense	probably damaging	0.99
R3710:Nim1k	UTSW	13	120,173,635 (GRCm39)	missense	probably benign
R4385:Nim1k	UTSW	13	120,174,162 (GRCm39)	missense	probably damaging	0.98
R4430:Nim1k	UTSW	13	120,174,078 (GRCm39)	missense	possibly damaging	0.63
R4484:Nim1k	UTSW	13	120,173,710 (GRCm39)	nonsense	probably null
R4812:Nim1k	UTSW	13	120,173,920 (GRCm39)	missense	probably benign
R5383:Nim1k	UTSW	13	120,189,335 (GRCm39)	missense	probably benign	0.25
R5436:Nim1k	UTSW	13	120,189,065 (GRCm39)	intron	probably benign
R5511:Nim1k	UTSW	13	120,189,130 (GRCm39)	missense	probably damaging	1.00
R6922:Nim1k	UTSW	13	120,189,263 (GRCm39)	missense	probably damaging	0.99
R7053:Nim1k	UTSW	13	120,189,145 (GRCm39)	missense	probably damaging	1.00
R7455:Nim1k	UTSW	13	120,173,995 (GRCm39)	missense	probably damaging	1.00
R8168:Nim1k	UTSW	13	120,174,288 (GRCm39)	missense	probably damaging	1.00
R8333:Nim1k	UTSW	13	120,174,022 (GRCm39)	missense	probably damaging	1.00
R8401:Nim1k	UTSW	13	120,174,213 (GRCm39)	missense	probably damaging	1.00
R8411:Nim1k	UTSW	13	120,175,807 (GRCm39)	missense	possibly damaging	0.95
R8515:Nim1k	UTSW	13	120,173,986 (GRCm39)	nonsense	probably null
R8540:Nim1k	UTSW	13	120,175,718 (GRCm39)	missense	probably benign	0.34
R8915:Nim1k	UTSW	13	120,173,874 (GRCm39)	missense	probably benign	0.10
R9227:Nim1k	UTSW	13	120,174,118 (GRCm39)	missense	probably damaging	1.00
R9416:Nim1k	UTSW	13	120,189,362 (GRCm39)	missense	probably benign
Z1177:Nim1k	UTSW	13	120,189,238 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAACTGCTCATGGCTAGCTC -3'
(R):5'- GGATCAACTACATCATGAGCAATG -3'

Sequencing Primer
(F):5'- TCATGGCTAGCTCCCAGC -3'
(R):5'- ATGCGAGGGGTGCCATAC -3'

Posted On

2018-07-23