Mutagenetix > Incidental Mutation

Incidental Mutation 'R8540:Nim1k'

659376

Institutional Source

Beutler Lab

Gene Symbol

Nim1k

Ensembl Gene

ENSMUSG00000095930

Gene Name

NIM1 serine/threonine protein kinase

Synonyms

Nim1, E130304F04Rik

MMRRC Submission

068506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8540 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120171630-120217418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120175718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 163 (S163G)

Ref Sequence

ENSEMBL: ENSMUSP00000136377 (fasta)

Gene Model

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

AlphaFold

Q8BHI9

Predicted Effect

probably benign
Transcript: ENSMUST00000178142
AA Change: S163G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136377
Gene: ENSMUSG00000095930
AA Change: S163G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	A	T	6: 140,579,437 (GRCm39)	I225L	probably benign	Het
Aebp2	A	G	6: 140,579,439 (GRCm39)	I225M	probably benign	Het
Ap2a1	C	A	7: 44,553,750 (GRCm39)	G566C	probably damaging	Het
Cdk15	T	C	1: 59,349,992 (GRCm39)	V328A	possibly damaging	Het
Cyld	G	A	8: 89,473,568 (GRCm39)	G929D	probably damaging	Het
Ddx50	G	A	10: 62,476,569 (GRCm39)	L235F	possibly damaging	Het
Dlg5	T	C	14: 24,208,767 (GRCm39)	D813G	probably damaging	Het
Epb41l3	C	T	17: 69,593,757 (GRCm39)	T797M	probably damaging	Het
Foxred2	G	A	15: 77,836,212 (GRCm39)	R382W	probably damaging	Het
Gm5798	T	A	14: 41,070,674 (GRCm39)	I28N	possibly damaging	Het
Grb14	C	T	2: 64,851,478 (GRCm39)	V91M	probably benign	Het
Ints6	T	C	14: 62,934,353 (GRCm39)	D718G	probably benign	Het
Man2a1	C	A	17: 64,965,982 (GRCm39)	H307N	probably benign	Het
Mylk	T	C	16: 34,750,257 (GRCm39)	Y1199H	possibly damaging	Het
Or1r1	A	G	11: 73,875,153 (GRCm39)	F94L	probably damaging	Het
Or51f5	G	C	7: 102,424,339 (GRCm39)	A203P	possibly damaging	Het
Or5ac16	A	T	16: 59,022,323 (GRCm39)	H155Q	possibly damaging	Het
Or8h6	C	A	2: 86,703,776 (GRCm39)	C97F	probably damaging	Het
Phyhip	A	G	14: 70,704,594 (GRCm39)	D271G	probably benign	Het
Pramel27	T	A	4: 143,579,496 (GRCm39)	S360R	probably benign	Het
Pycr2	G	A	1: 180,734,178 (GRCm39)	A187T	possibly damaging	Het
Ryr3	T	A	2: 112,630,367 (GRCm39)	E2148V	probably damaging	Het
Septin12	T	C	16: 4,805,481 (GRCm39)	H304R	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Ssx2ip	T	C	3: 146,124,114 (GRCm39)	V43A	probably benign	Het
Syne2	A	T	12: 76,141,148 (GRCm39)	N6087Y	probably damaging	Het
Tbc1d4	A	T	14: 101,845,712 (GRCm39)	I62N	probably damaging	Het
Ttn	C	T	2: 76,573,337 (GRCm39)	G24106D	probably damaging	Het
Uhrf1	T	A	17: 56,612,105 (GRCm39)	I3N	probably damaging	Het
Urgcp	A	C	11: 5,667,915 (GRCm39)	L141R	probably damaging	Het
Ush2a	G	A	1: 188,274,858 (GRCm39)	R1777H	probably benign	Het
Vamp3	A	G	4: 151,135,507 (GRCm39)	V37A	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,498 (GRCm39)	L128F	possibly damaging	Het
Vmn1r76	A	G	7: 11,664,897 (GRCm39)	Y71H	probably damaging	Het
Vmn2r111	C	T	17: 22,778,023 (GRCm39)		probably null	Het
Vmn2r111	T	A	17: 22,778,024 (GRCm39)	N552Y	probably damaging	Het
Vmn2r81	A	T	10: 79,129,065 (GRCm39)	N652I	probably damaging	Het
Vmn2r87	T	C	10: 130,314,762 (GRCm39)	N275D	possibly damaging	Het
Wrn	T	A	8: 33,842,154 (GRCm39)	I47F	probably 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
R6682:Nim1k	UTSW	13	120,173,724 (GRCm39)	missense	probably benign	0.09
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
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'- TTTGGAGGCATGGACCATGG -3'
(R):5'- ATTCTGGACAAAACCAAGTTAGACC -3'

Sequencing Primer
(F):5'- CAGGGGCTGTCATTTCAGAGC -3'
(R):5'- GTTAGACCAGAAAACCCAAAGGCTG -3'

Posted On

2021-01-18