Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02637:Lmx1a'

301587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmx1a

Ensembl Gene

ENSMUSG00000026686

Gene Name

LIM homeobox transcription factor 1 alpha

Synonyms

shaker short-tail, Lmx1.1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.882) question?

Stock #

IGL02637

Quality Score

Status

Chromosome

Chromosomal Location

167516806-167676310 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 167672192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028003] [ENSMUST00000111377]

AlphaFold

Q9JKU8

Predicted Effect

probably benign
Transcript: ENSMUST00000028003

SMART Domains

Protein: ENSMUSP00000028003
Gene: ENSMUSG00000026686

Domain	Start	End	E-Value	Type
LIM	34	85	2.87e-15	SMART
LIM	93	147	3.39e-17	SMART
HOX	195	257	2.62e-21	SMART
low complexity region	337	350	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111377

SMART Domains

Protein: ENSMUSP00000107008
Gene: ENSMUSG00000026686

Domain	Start	End	E-Value	Type
LIM	34	85	2.87e-15	SMART
LIM	93	147	3.39e-17	SMART
HOX	195	257	2.62e-21	SMART
low complexity region	337	350	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mutations in the dreher locus produce neurological and skeletal abnormalities, inner ear defects, and belly spotting. Deafness and hypoplasia of Mullerian duct derivatives are also reported for some alleles. Homozygous null mice have fewer dopaminergic neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,309,907 (GRCm39)	Y435C	probably damaging	Het
Adgrb1	C	T	15: 74,460,143 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,199 (GRCm39)		probably benign	Het
Camk1g	G	A	1: 193,030,696 (GRCm39)	P338S	probably benign	Het
Cog3	T	C	14: 75,959,636 (GRCm39)		probably benign	Het
Crat	A	G	2: 30,296,401 (GRCm39)	V355A	probably benign	Het
Ctla2a	T	A	13: 61,083,899 (GRCm39)		probably benign	Het
Dnaaf9	C	A	2: 130,656,227 (GRCm39)		probably benign	Het
Efhb	A	G	17: 53,756,580 (GRCm39)	I357T	probably benign	Het
Fh1	T	C	1: 175,437,332 (GRCm39)	M256V	probably benign	Het
Gabrg3	A	G	7: 56,384,775 (GRCm39)	I262T	probably damaging	Het
Gata2	C	T	6: 88,181,558 (GRCm39)		probably benign	Het
Gm6356	A	G	14: 6,970,926 (GRCm38)	V178A	possibly damaging	Het
Hacl1	T	C	14: 31,362,458 (GRCm39)	E63G	probably damaging	Het
Hid1	A	T	11: 115,241,421 (GRCm39)	I623N	probably damaging	Het
Hivep2	A	G	10: 14,006,452 (GRCm39)	K1017E	possibly damaging	Het
Ifi208	C	T	1: 173,506,508 (GRCm39)	T97I	probably benign	Het
Ighg1	T	C	12: 113,293,132 (GRCm39)	H186R	unknown	Het
Igkv8-26	T	C	6: 70,170,642 (GRCm39)	S78P	probably damaging	Het
Itih3	T	C	14: 30,637,617 (GRCm39)	N514S	probably benign	Het
Kcnj16	A	T	11: 110,916,439 (GRCm39)	D367V	probably benign	Het
Klhl23	A	T	2: 69,659,258 (GRCm39)	R428*	probably null	Het
Lgmn	T	C	12: 102,366,485 (GRCm39)	E216G	probably damaging	Het
Lrp5	C	T	19: 3,680,269 (GRCm39)	G405D	probably benign	Het
Lrrc74a	C	T	12: 86,788,521 (GRCm39)	R53*	probably null	Het
Lsm12	G	A	11: 102,054,948 (GRCm39)	R123C	probably benign	Het
Marchf5	T	A	19: 37,198,033 (GRCm39)		probably benign	Het
Mark3	C	A	12: 111,559,090 (GRCm39)	A44D	probably damaging	Het
Mndal	T	A	1: 173,685,003 (GRCm39)	N522I	possibly damaging	Het
Nbeal2	G	T	9: 110,455,045 (GRCm39)	R2611S	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,482 (GRCm39)		noncoding transcript	Het
Npnt	T	A	3: 132,590,271 (GRCm39)	I507F	possibly damaging	Het
Or51a7	G	A	7: 102,622,250 (GRCm39)		probably benign	Het
Pde4a	T	A	9: 21,112,628 (GRCm39)	L91Q	probably damaging	Het
Pdzd2	C	T	15: 12,385,720 (GRCm39)	V1017M	probably benign	Het
Pkhd1l1	A	G	15: 44,427,720 (GRCm39)	N3259S	probably damaging	Het
Plxnb2	A	T	15: 89,048,260 (GRCm39)	H683Q	possibly damaging	Het
Reck	T	A	4: 43,898,009 (GRCm39)	S96T	probably damaging	Het
Rnf135	A	G	11: 80,089,704 (GRCm39)	K347E	probably benign	Het
Ro60	A	G	1: 143,646,526 (GRCm39)	V73A	probably damaging	Het
Rxfp2	A	G	5: 149,979,378 (GRCm39)	D246G	probably damaging	Het
Sdk1	C	T	5: 142,080,327 (GRCm39)	T1273I	probably damaging	Het
Slc12a8	A	T	16: 33,355,330 (GRCm39)	M49L	probably benign	Het
Slc5a11	A	T	7: 122,859,728 (GRCm39)		probably null	Het
Surf2	A	G	2: 26,809,790 (GRCm39)	K247E	probably damaging	Het
Sys1	G	A	2: 164,303,312 (GRCm39)	V9M	possibly damaging	Het
Tcf4	G	A	18: 69,480,421 (GRCm39)	D18N	probably damaging	Het
Tmc6	A	T	11: 117,658,416 (GRCm39)	V773D	possibly damaging	Het
Trappc13	T	C	13: 104,286,570 (GRCm39)	Q229R	probably benign	Het
Xkr5	T	C	8: 18,984,099 (GRCm39)	E481G	probably benign	Het
Xpo5	C	A	17: 46,546,905 (GRCm39)	D885E	probably damaging	Het

Other mutations in Lmx1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02624:Lmx1a	APN	1	167,672,192 (GRCm39)	splice site	probably benign
IGL02629:Lmx1a	APN	1	167,672,192 (GRCm39)	splice site	probably benign
IGL02642:Lmx1a	APN	1	167,672,192 (GRCm39)	splice site	probably benign
IGL02811:Lmx1a	APN	1	167,618,943 (GRCm39)	missense	probably benign	0.06
scooby	UTSW	1	167,658,256 (GRCm39)	missense	possibly damaging	0.47
R0320:Lmx1a	UTSW	1	167,618,973 (GRCm39)	nonsense	probably null
R1217:Lmx1a	UTSW	1	167,618,968 (GRCm39)	missense	probably damaging	1.00
R2897:Lmx1a	UTSW	1	167,658,109 (GRCm39)	splice site	probably benign
R4211:Lmx1a	UTSW	1	167,660,428 (GRCm39)	missense	probably damaging	0.96
R4976:Lmx1a	UTSW	1	167,619,123 (GRCm39)	missense	possibly damaging	0.73
R5125:Lmx1a	UTSW	1	167,658,256 (GRCm39)	missense	possibly damaging	0.47
R6858:Lmx1a	UTSW	1	167,660,450 (GRCm39)	missense	probably damaging	1.00
R7099:Lmx1a	UTSW	1	167,658,115 (GRCm39)	missense	probably damaging	1.00
R7177:Lmx1a	UTSW	1	167,674,247 (GRCm39)	missense	probably benign
R7380:Lmx1a	UTSW	1	167,519,609 (GRCm39)	missense	probably damaging	1.00
R7831:Lmx1a	UTSW	1	167,668,521 (GRCm39)	missense	probably benign	0.06
R8329:Lmx1a	UTSW	1	167,517,372 (GRCm39)	missense	probably benign	0.00
R9269:Lmx1a	UTSW	1	167,658,194 (GRCm39)	missense	probably benign	0.03
Z1176:Lmx1a	UTSW	1	167,519,568 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16