Mutagenetix > Incidental Mutation

Incidental Mutation 'R6922:Nim1k'

539694

Institutional Source

Beutler Lab

Gene Symbol

Nim1k

Ensembl Gene

ENSMUSG00000095930

Gene Name

NIM1 serine/threonine protein kinase

Synonyms

Nim1, E130304F04Rik

MMRRC Submission

045041-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120171630-120217418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120189263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 49 (E49K)

Ref Sequence

ENSEMBL: ENSMUSP00000136377 (fasta)

Gene Model

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

AlphaFold

Q8BHI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000178142
AA Change: E49K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136377
Gene: ENSMUSG00000095930
AA Change: E49K

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

Meta Mutation Damage Score

0.2253

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	C	15: 72,985,601 (GRCm39)	I665V	probably benign	Het
Aoc1l3	T	G	6: 48,964,508 (GRCm39)	F172C	probably damaging	Het
Arhgap32	A	T	9: 32,063,983 (GRCm39)	M74L	possibly damaging	Het
Asb4	T	C	6: 5,398,304 (GRCm39)	C90R	possibly damaging	Het
B3galt4	T	A	17: 34,169,821 (GRCm39)	D139V	probably damaging	Het
Camta2	A	C	11: 70,564,964 (GRCm39)	I852S	probably benign	Het
Cd200l1	A	T	16: 45,264,294 (GRCm39)	M88K	probably benign	Het
Cox4i2	G	T	2: 152,599,015 (GRCm39)	E57D	probably benign	Het
Dip2b	T	C	15: 100,091,724 (GRCm39)	I1055T	probably benign	Het
Eif1ad18	T	A	12: 88,050,602 (GRCm39)	W46R	probably benign	Het
Eif4g3	C	T	4: 137,824,646 (GRCm39)	P284S	probably damaging	Het
Ephb1	C	A	9: 101,806,463 (GRCm39)		probably null	Het
Fbxw7	A	T	3: 84,879,723 (GRCm39)		probably null	Het
Frem1	C	A	4: 82,840,506 (GRCm39)	D1789Y	probably damaging	Het
Gm29106	A	T	1: 118,127,524 (GRCm39)	R405S	probably damaging	Het
Greb1l	G	A	18: 10,547,482 (GRCm39)	V1567M	possibly damaging	Het
Hapstr1	A	G	16: 8,648,553 (GRCm39)		probably null	Het
Heatr1	C	A	13: 12,449,956 (GRCm39)	D1983E	probably benign	Het
Lhfpl2	G	T	13: 94,311,029 (GRCm39)	A100S	probably damaging	Het
Lrp5	A	T	19: 3,655,301 (GRCm39)	V1073D	probably damaging	Het
Naip6	G	A	13: 100,438,706 (GRCm39)	L364F	possibly damaging	Het
Nek9	A	G	12: 85,350,311 (GRCm39)	L921P	probably damaging	Het
Nsun5	A	C	5: 135,399,046 (GRCm39)	N32T	probably damaging	Het
Nuggc	T	C	14: 65,855,092 (GRCm39)	S325P	probably damaging	Het
Or2d36	A	G	7: 106,747,290 (GRCm39)	I256V	probably damaging	Het
Or5w12	T	A	2: 87,501,797 (GRCm39)	K305*	probably null	Het
Pcdhga7	A	G	18: 37,848,710 (GRCm39)	D239G	probably damaging	Het
Pld2	A	G	11: 70,444,273 (GRCm39)	D523G	probably benign	Het
Prokr1	C	A	6: 87,565,455 (GRCm39)	W130L	probably damaging	Het
Prpf8	A	G	11: 75,381,562 (GRCm39)	N266S	probably damaging	Het
Rdh10	T	C	1: 16,176,255 (GRCm39)	V5A	probably benign	Het
Rp1l1	T	C	14: 64,267,834 (GRCm39)	L1140P	possibly damaging	Het
Sacs	A	G	14: 61,448,874 (GRCm39)	D3640G	probably damaging	Het
Smarca2	A	G	19: 26,668,749 (GRCm39)	E916G	probably damaging	Het
Steap3	A	T	1: 120,171,624 (GRCm39)	H160Q	probably damaging	Het
Tlk2	T	C	11: 105,147,779 (GRCm39)		probably null	Het
Tmprss4	A	G	9: 45,097,220 (GRCm39)	V15A	probably benign	Het
Togaram2	T	C	17: 72,014,129 (GRCm39)	L559P	probably damaging	Het
Topbp1	T	A	9: 103,213,045 (GRCm39)	L990H	probably damaging	Het
Ttll7	A	G	3: 146,615,369 (GRCm39)	T278A	possibly damaging	Het
Ttn	G	A	2: 76,604,780 (GRCm39)	L18385F	probably damaging	Het
Upf3a	G	T	8: 13,841,911 (GRCm39)	A149S	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp316	A	T	5: 143,239,280 (GRCm39)	F913Y	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
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'- ATGTGGCCTTAAGTCGCCTTC -3'
(R):5'- GGCCTCAACTCAAGCTTTCC -3'

Sequencing Primer
(F):5'- GTGGCCTTAAGTCGCCTTCTAAAC -3'
(R):5'- TGCAAGCTGCCCTGACAG -3'

Posted On

2018-11-06