Mutagenetix > Incidental Mutation

Incidental Mutation 'R2225:Limk1'

239658

Institutional Source

Beutler Lab

Gene Symbol

Limk1

Ensembl Gene

ENSMUSG00000029674

Gene Name

LIM domain kinase 1

Synonyms

MMRRC Submission

040226-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2225 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134684893-134717452 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 134690410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015137] [ENSMUST00000111233] [ENSMUST00000138590]

AlphaFold

P53668

Predicted Effect

probably benign
Transcript: ENSMUST00000015137

SMART Domains

Protein: ENSMUSP00000015137
Gene: ENSMUSG00000029674

Domain	Start	End	E-Value	Type
LIM	24	75	5.3e-19	SMART
LIM	83	137	1.73e-9	SMART
PDZ	176	258	1.51e-9	SMART
low complexity region	266	277	N/A	INTRINSIC
Pfam:Pkinase	339	604	1.7e-49	PFAM
Pfam:Pkinase_Tyr	339	604	1.5e-55	PFAM
Pfam:Kdo	345	509	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111233

SMART Domains

Protein: ENSMUSP00000106864
Gene: ENSMUSG00000029674

Domain	Start	End	E-Value	Type
LIM	23	67	2.19e-1	SMART
LIM	75	129	1.73e-9	SMART
PDZ	168	250	1.51e-9	SMART
low complexity region	258	269	N/A	INTRINSIC
Pfam:Pkinase_Tyr	331	596	1.5e-56	PFAM
Pfam:Pkinase	331	597	4.7e-50	PFAM
Pfam:Kdo	339	501	1.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134093

SMART Domains

Protein: ENSMUSP00000121718
Gene: ENSMUSG00000029674

Domain	Start	End	E-Value	Type
LIM	16	60	2.19e-1	SMART
LIM	68	122	1.73e-9	SMART
PDZ	161	243	1.51e-9	SMART
low complexity region	251	262	N/A	INTRINSIC
Pfam:Pkinase	324	425	3.9e-16	PFAM
Pfam:Pkinase_Tyr	324	434	5.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137897

Predicted Effect

probably null
Transcript: ENSMUST00000138590

SMART Domains

Protein: ENSMUSP00000118268
Gene: ENSMUSG00000029674

Domain	Start	End	E-Value	Type
Pfam:Pkinase	3	59	3.6e-9	PFAM
Pfam:Pkinase_Tyr	3	80	2.6e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: This gene encodes a member of the LIM kinase family of proteins. This protein is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein also stimulates axon growth and may play a role in brain development. Homozygous knockout mice for this gene exhibit reduced bone mass, abnormal neuronal morphology and altered synaptic function. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal actin cytoskeleton in neurons of the central nervous system and structural abnormalities of the dendritic spines. Long term potentiation is altered and behavioral anomalies are seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Aggf1	A	G	13: 95,507,354 (GRCm39)	S144P	probably damaging	Het
Akap9	A	T	5: 4,127,271 (GRCm39)	R3706S	probably damaging	Het
Btd	A	G	14: 31,389,017 (GRCm39)	D246G	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep152	T	C	2: 125,423,704 (GRCm39)	E899G	probably damaging	Het
Cpsf6	A	T	10: 117,198,941 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,375,041 (GRCm39)	I2071T	probably damaging	Het
Cwc22	T	A	2: 77,738,495 (GRCm39)		probably benign	Het
Ddah2	T	A	17: 35,279,187 (GRCm39)	I16N	probably damaging	Het
Dld	T	G	12: 31,391,448 (GRCm39)	M123L	probably benign	Het
Eif5b	A	T	1: 38,058,304 (GRCm39)	K202I	unknown	Het
Gm6430	T	C	1: 96,953,441 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Hspa4	C	T	11: 53,177,760 (GRCm39)	V117M	probably benign	Het
Htra4	T	C	8: 25,515,736 (GRCm39)	D434G	probably benign	Het
Itgb3	A	G	11: 104,556,336 (GRCm39)	M726V	probably benign	Het
Itih1	A	G	14: 30,651,534 (GRCm39)	V886A	possibly damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Lonrf1	T	C	8: 36,703,252 (GRCm39)	D308G	probably damaging	Het
Muc4	A	T	16: 32,576,265 (GRCm39)		probably benign	Het
Muc4	G	A	16: 32,587,316 (GRCm39)	C2719Y	possibly damaging	Het
Mvb12b	G	A	2: 33,730,211 (GRCm39)	T60I	possibly damaging	Het
Myh2	C	T	11: 67,084,555 (GRCm39)	T1698M	probably benign	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Or10d5	T	C	9: 39,861,833 (GRCm39)	K78R	possibly damaging	Het
Or2l5	T	C	16: 19,333,996 (GRCm39)	H130R	probably benign	Het
Or8g33	T	C	9: 39,337,915 (GRCm39)	I151V	probably benign	Het
Plekhg2	G	A	7: 28,059,760 (GRCm39)	P1190S	probably benign	Het
Reck	A	G	4: 43,922,837 (GRCm39)	T371A	probably benign	Het
Rnf185	T	C	11: 3,382,445 (GRCm39)	D44G	probably damaging	Het
Rpgrip1l	T	C	8: 91,948,095 (GRCm39)	E1196G	probably benign	Het
Rundc1	A	G	11: 101,322,170 (GRCm39)		probably benign	Het
Sf3b3	T	C	8: 111,541,205 (GRCm39)	Y970C	probably damaging	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Shprh	T	C	10: 11,037,979 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tbxa2r	A	G	10: 81,168,983 (GRCm39)	Y224C	probably benign	Het
Tlr5	A	G	1: 182,799,941 (GRCm39)		probably benign	Het
Tmem270	A	G	5: 134,935,492 (GRCm39)	L21P	probably damaging	Het
Tmtc2	T	C	10: 105,206,218 (GRCm39)	E359G	probably benign	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	A	G	7: 46,314,598 (GRCm39)		probably null	Het
Wiz	C	T	17: 32,575,899 (GRCm39)	V836M	probably damaging	Het
Zfp451	T	A	1: 33,809,988 (GRCm39)		probably benign	Het
Zfp738	A	G	13: 67,818,431 (GRCm39)	F520S	probably damaging	Het

Other mutations in Limk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Limk1	APN	5	134,686,754 (GRCm39)	unclassified	probably benign
IGL02029:Limk1	APN	5	134,686,808 (GRCm39)	nonsense	probably null
IGL02211:Limk1	APN	5	134,686,491 (GRCm39)	missense	probably damaging	1.00
IGL03000:Limk1	APN	5	134,699,355 (GRCm39)	missense	probably damaging	0.99
extremist	UTSW	5	134,699,295 (GRCm39)	missense	probably damaging	1.00
R0046:Limk1	UTSW	5	134,701,615 (GRCm39)	missense	probably damaging	1.00
R0046:Limk1	UTSW	5	134,701,615 (GRCm39)	missense	probably damaging	1.00
R0058:Limk1	UTSW	5	134,688,725 (GRCm39)	missense	probably damaging	1.00
R0058:Limk1	UTSW	5	134,688,725 (GRCm39)	missense	probably damaging	1.00
R0071:Limk1	UTSW	5	134,690,245 (GRCm39)	missense	probably benign	0.01
R0180:Limk1	UTSW	5	134,698,115 (GRCm39)	missense	probably damaging	0.97
R1456:Limk1	UTSW	5	134,686,364 (GRCm39)	missense	probably benign	0.09
R2379:Limk1	UTSW	5	134,708,335 (GRCm39)	unclassified	probably benign
R2899:Limk1	UTSW	5	134,717,154 (GRCm39)	splice site	probably null
R3423:Limk1	UTSW	5	134,701,523 (GRCm39)	critical splice donor site	probably null
R4235:Limk1	UTSW	5	134,699,332 (GRCm39)	missense	probably benign	0.00
R4516:Limk1	UTSW	5	134,705,640 (GRCm39)	intron	probably benign
R4566:Limk1	UTSW	5	134,715,537 (GRCm39)	missense	probably benign	0.12
R4752:Limk1	UTSW	5	134,699,295 (GRCm39)	missense	probably damaging	1.00
R5682:Limk1	UTSW	5	134,694,059 (GRCm39)	critical splice donor site	probably null
R5917:Limk1	UTSW	5	134,686,789 (GRCm39)	missense	probably damaging	1.00
R6163:Limk1	UTSW	5	134,686,809 (GRCm39)	missense	probably damaging	1.00
R6479:Limk1	UTSW	5	134,690,373 (GRCm39)	utr 3 prime	probably benign
R6952:Limk1	UTSW	5	134,699,332 (GRCm39)	missense	possibly damaging	0.76
R7009:Limk1	UTSW	5	134,701,553 (GRCm39)	missense	probably benign
R7147:Limk1	UTSW	5	134,686,195 (GRCm39)	missense	probably benign	0.14
R7453:Limk1	UTSW	5	134,698,091 (GRCm39)	missense	probably damaging	1.00
R7471:Limk1	UTSW	5	134,686,825 (GRCm39)	splice site	probably null
R9427:Limk1	UTSW	5	134,686,358 (GRCm39)	missense	probably benign	0.07
R9449:Limk1	UTSW	5	134,701,864 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2014-10-15