Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Lhx5'

366324

Institutional Source

Beutler Lab

Gene Symbol

Lhx5

Ensembl Gene

ENSMUSG00000029595

Gene Name

LIM homeobox protein 5

Synonyms

Lim2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120569764-120579288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120574503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 269 (E269G)

Ref Sequence

ENSEMBL: ENSMUSP00000031591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031591]

AlphaFold

P61375

Predicted Effect

probably benign
Transcript: ENSMUST00000031591
AA Change: E269G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: E269G

Domain	Start	End	E-Value	Type
LIM	4	55	1.7e-17	SMART
LIM	63	118	3e-18	SMART
low complexity region	120	135	N/A	INTRINSIC
low complexity region	140	153	N/A	INTRINSIC
HOX	180	242	1.33e-22	SMART
low complexity region	276	287	N/A	INTRINSIC
low complexity region	300	311	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC
low complexity region	370	384	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185026

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a null mutation display defective hippocampal development and die within a few days after birth. Postmitotic hippocampal cells are unable to differentiate properly and migrate to correct positions, resulting in structural anomalies of the Ammon's horn and the dentate gyrus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,382,174 (GRCm39)	S1264A	probably benign	Het
Adamts13	T	G	2: 26,898,723 (GRCm39)	Y1361*	probably null	Het
Ahrr	A	T	13: 74,362,331 (GRCm39)	D389E	probably damaging	Het
Alx3	T	C	3: 107,508,007 (GRCm39)	F172S	probably damaging	Het
Antxrl	A	G	14: 33,795,027 (GRCm39)	H485R	possibly damaging	Het
Aox4	A	G	1: 58,298,307 (GRCm39)	D1091G	probably null	Het
Btbd1	T	A	7: 81,455,558 (GRCm39)	Q271L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdc14a	C	T	3: 116,088,399 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,912 (GRCm39)	M1641V	probably benign	Het
Clec2e	G	A	6: 129,077,790 (GRCm39)	T16I	probably benign	Het
Clp1	T	C	2: 84,556,219 (GRCm39)	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,337,444 (GRCm39)	F517I	probably damaging	Het
Dzip3	T	C	16: 48,758,837 (GRCm39)	N646S	probably damaging	Het
Ephx1	T	A	1: 180,823,543 (GRCm39)	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,403,051 (GRCm39)	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,368,571 (GRCm39)	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,868,411 (GRCm39)		probably null	Het
Ift81	G	T	5: 122,732,656 (GRCm39)	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Il6	T	G	5: 30,223,076 (GRCm39)	L114*	probably null	Het
Ism2	A	T	12: 87,346,355 (GRCm39)	M42K	probably benign	Het
Marveld1	T	G	19: 42,136,434 (GRCm39)	M116R	possibly damaging	Het
Micall2	A	G	5: 139,692,641 (GRCm39)	S911P	probably damaging	Het
Mier1	G	A	4: 102,997,417 (GRCm39)	R195H	probably benign	Het
Muc2	T	A	7: 141,286,260 (GRCm39)		probably null	Het
Mybbp1a	A	G	11: 72,336,466 (GRCm39)	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,162,708 (GRCm39)	L179R	probably damaging	Het
Nos1	C	T	5: 118,081,310 (GRCm39)	Q1171*	probably null	Het
Nrg1	T	A	8: 32,408,000 (GRCm39)	I78F	probably damaging	Het
Or5d36	T	G	2: 87,901,073 (GRCm39)	T218P	probably benign	Het
Or6y1	T	G	1: 174,276,524 (GRCm39)	F112V	possibly damaging	Het
Plek2	C	T	12: 78,953,664 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,477,325 (GRCm39)	H339R	probably damaging	Het
Pold1	C	T	7: 44,184,495 (GRCm39)	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,927,852 (GRCm39)	I868V	probably benign	Het
Prss54	C	A	8: 96,286,003 (GRCm39)	V357L	probably benign	Het
Rbbp8	T	A	18: 11,855,727 (GRCm39)	S625T	probably damaging	Het
Rgs1	A	T	1: 144,123,667 (GRCm39)	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,545,262 (GRCm39)	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,325,429 (GRCm39)	L1011F	probably damaging	Het
Slc19a3	G	A	1: 82,997,062 (GRCm39)	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991 (GRCm38)	L537Q	probably damaging	Het
Trim45	C	A	3: 100,839,050 (GRCm39)		probably benign	Het
Umodl1	G	T	17: 31,202,976 (GRCm39)	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,597 (GRCm39)	R87K	probably damaging	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Zeb2	T	G	2: 44,886,447 (GRCm39)	E825A	probably damaging	Het
Zfp930	A	T	8: 69,679,344 (GRCm39)	I50F	probably benign	Het

Other mutations in Lhx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1793:Lhx5	UTSW	5	120,572,725 (GRCm39)	missense	probably damaging	1.00
R2958:Lhx5	UTSW	5	120,573,542 (GRCm39)	missense	probably benign	0.09
R3019:Lhx5	UTSW	5	120,578,070 (GRCm39)	missense	probably benign	0.02
R4504:Lhx5	UTSW	5	120,578,073 (GRCm39)	missense	possibly damaging	0.92
R4505:Lhx5	UTSW	5	120,578,073 (GRCm39)	missense	possibly damaging	0.92
R4507:Lhx5	UTSW	5	120,578,073 (GRCm39)	missense	possibly damaging	0.92
R4508:Lhx5	UTSW	5	120,573,499 (GRCm39)	missense	probably damaging	0.99
R4671:Lhx5	UTSW	5	120,578,032 (GRCm39)	missense	probably benign	0.01
R5547:Lhx5	UTSW	5	120,572,675 (GRCm39)	missense	probably benign	0.32
R7122:Lhx5	UTSW	5	120,574,410 (GRCm39)	missense	probably benign	0.35
R7439:Lhx5	UTSW	5	120,578,349 (GRCm39)	missense	probably benign	0.01
R8911:Lhx5	UTSW	5	120,574,509 (GRCm39)	nonsense	probably null
R9168:Lhx5	UTSW	5	120,570,410 (GRCm39)	missense	probably benign	0.11
R9197:Lhx5	UTSW	5	120,573,446 (GRCm39)	missense	possibly damaging	0.52
R9293:Lhx5	UTSW	5	120,570,451 (GRCm39)	missense	probably benign	0.05
R9701:Lhx5	UTSW	5	120,572,663 (GRCm39)	missense	possibly damaging	0.95
R9802:Lhx5	UTSW	5	120,572,663 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGTTCGCTGAAGCTTCTCTC -3'
(R):5'- GCCTGTGCTAATGAGTCTGTC -3'

Sequencing Primer
(F):5'- GACTAATCCGGCCCAGC -3'
(R):5'- GCTAATGAGTCTGTCGAGGAATG -3'

Posted On

2015-12-21