Mutagenetix > Incidental Mutation

Incidental Mutation 'R4430:Nim1k'

328580

Institutional Source

Beutler Lab

Gene Symbol

Nim1k

Ensembl Gene

ENSMUSG00000095930

Gene Name

NIM1 serine/threonine protein kinase

Synonyms

E130304F04Rik, Nim1

MMRRC Submission

041700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119710094-119755882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119712542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 272 (R272L)

Ref Sequence

ENSEMBL: ENSMUSP00000136377 (fasta)

Gene Model

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

AlphaFold

Q8BHI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178142
AA Change: R272L

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136377
Gene: ENSMUSG00000095930
AA Change: R272L

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	probably damaging	Het

Other mutations in Nim1k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1334:Nim1k	UTSW	13	119712488	missense	probably benign	0.05
R1782:Nim1k	UTSW	13	119712151	missense	probably benign	0.00
R2216:Nim1k	UTSW	13	119714215	missense	probably damaging	0.99
R3710:Nim1k	UTSW	13	119712099	missense	probably benign
R4385:Nim1k	UTSW	13	119712626	missense	probably damaging	0.98
R4484:Nim1k	UTSW	13	119712174	nonsense	probably null
R4812:Nim1k	UTSW	13	119712384	missense	probably benign
R5383:Nim1k	UTSW	13	119727799	missense	probably benign	0.25
R5436:Nim1k	UTSW	13	119727529	intron	probably benign
R5511:Nim1k	UTSW	13	119727594	missense	probably damaging	1.00
R6682:Nim1k	UTSW	13	119712188	missense	probably benign	0.09
R6922:Nim1k	UTSW	13	119727727	missense	probably damaging	0.99
R7053:Nim1k	UTSW	13	119727609	missense	probably damaging	1.00
R7455:Nim1k	UTSW	13	119712459	missense	probably damaging	1.00
R8168:Nim1k	UTSW	13	119712752	missense	probably damaging	1.00
R8333:Nim1k	UTSW	13	119712486	missense	probably damaging	1.00
R8401:Nim1k	UTSW	13	119712677	missense	probably damaging	1.00
R8411:Nim1k	UTSW	13	119714271	missense	possibly damaging	0.95
R8515:Nim1k	UTSW	13	119712450	nonsense	probably null
R8540:Nim1k	UTSW	13	119714182	missense	probably benign	0.34
R8915:Nim1k	UTSW	13	119712338	missense	probably benign	0.10
R9227:Nim1k	UTSW	13	119712582	missense	probably damaging	1.00
R9416:Nim1k	UTSW	13	119727826	missense	probably benign
Z1177:Nim1k	UTSW	13	119727702	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CGACAAATGTTTGGGATCCAG -3'
(R):5'- GGGAGATTTTGGATTCAGCAC -3'

Sequencing Primer
(F):5'- CAAATGTTTGGGATCCAGTTGGAAC -3'
(R):5'- GAGATTTTGGATTCAGCACAGTAAG -3'

Posted On

2015-07-21