Mutagenetix > Incidental Mutation

Incidental Mutation 'R9701:Lhx5'

729561

Institutional Source

Beutler Lab

Gene Symbol

Lhx5

Ensembl Gene

ENSMUSG00000029595

Gene Name

LIM homeobox protein 5

Synonyms

Lim2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R9701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120569764-120579288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120572663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 94 (V94E)

Ref Sequence

ENSEMBL: ENSMUSP00000031591 (fasta)

Gene Model

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

AlphaFold

P61375

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031591
AA Change: V94E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: V94E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,786,054 (GRCm39)	D673G	probably benign	Het
Alg8	T	A	7: 97,027,486 (GRCm39)	V118E	possibly damaging	Het
Ap4e1	T	C	2: 126,875,563 (GRCm39)	V218A	probably benign	Het
Armc12	A	T	17: 28,751,375 (GRCm39)	D123V	probably damaging	Het
Bltp3b	G	A	10: 89,615,755 (GRCm39)	V133I	probably benign	Het
Bms1	T	A	6: 118,368,147 (GRCm39)	K1039I	probably damaging	Het
Col4a2	A	G	8: 11,493,104 (GRCm39)	N1299S	probably benign	Het
Cux1	T	C	5: 136,343,169 (GRCm39)	D405G	probably damaging	Het
Cwf19l2	A	T	9: 3,430,454 (GRCm39)	Q262L	probably damaging	Het
Dclk3	A	G	9: 111,298,244 (GRCm39)	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,561,388 (GRCm39)	C2090S	probably benign	Het
Dock7	T	C	4: 98,846,384 (GRCm39)	D1749G	unknown	Het
Dock9	A	T	14: 121,876,983 (GRCm39)	C463S	probably benign	Het
Dyrk1b	G	A	7: 27,885,838 (GRCm39)	R548Q	probably damaging	Het
Egr1	T	C	18: 34,995,674 (GRCm39)	F152S	probably damaging	Het
Eln	C	A	5: 134,744,559 (GRCm39)	A479S	unknown	Het
Gm973	T	A	1: 59,566,032 (GRCm39)	W84R	possibly damaging	Het
Gnpat	A	G	8: 125,613,678 (GRCm39)	K642E	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gpx6	A	T	13: 21,501,777 (GRCm39)	Q133L	probably benign	Het
Gzmn	T	C	14: 56,405,310 (GRCm39)	Y58C	probably benign	Het
Hcfc2	G	T	10: 82,574,269 (GRCm39)	G148*	probably null	Het
Hspa5	C	T	2: 34,664,649 (GRCm39)	R368*	probably null	Het
Igkv3-10	T	C	6: 70,550,001 (GRCm39)	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,060,745 (GRCm39)	I852F	possibly damaging	Het
Map1s	C	T	8: 71,369,712 (GRCm39)	T928I	possibly damaging	Het
Mib1	T	A	18: 10,798,494 (GRCm39)	L785H	probably damaging	Het
Mrgpra6	C	T	7: 46,835,533 (GRCm39)	R296K	probably benign	Het
Mrpl9	A	G	3: 94,351,892 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,676,485 (GRCm39)	S486G	probably benign	Het
Naa15	T	A	3: 51,349,370 (GRCm39)	Y96*	probably null	Het
Nlrp1a	T	C	11: 70,987,946 (GRCm39)	S1175G	probably benign	Het
Nup153	A	T	13: 46,840,211 (GRCm39)	D1132E	probably benign	Het
Nxf1	G	A	19: 8,739,772 (GRCm39)	G42D	probably damaging	Het
Or13j1	C	A	4: 43,705,793 (GRCm39)	M258I	probably benign	Het
Plekhg6	C	T	6: 125,347,602 (GRCm39)	V451I	probably benign	Het
Prkab1	T	C	5: 116,162,274 (GRCm39)	E12G	probably benign	Het
Ptprd	A	G	4: 75,916,896 (GRCm39)	Y752H	probably damaging	Het
Rbm12	A	G	2: 155,938,166 (GRCm39)	I702T	probably benign	Het
Rnf212	A	G	5: 108,922,738 (GRCm39)		probably null	Het
Sall3	C	A	18: 81,017,443 (GRCm39)	A162S	probably benign	Het
Sec24d	T	C	3: 123,063,321 (GRCm39)	S13P	probably damaging	Het
Serpina16	T	C	12: 103,638,873 (GRCm39)	Q238R	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	T	A	4: 112,111,094 (GRCm39)	V73E	probably damaging	Het
Slc6a20a	T	A	9: 123,489,585 (GRCm39)	T153S	probably damaging	Het
Slc6a6	T	C	6: 91,700,478 (GRCm39)	Y69H	probably damaging	Het
Sorl1	A	G	9: 42,003,766 (GRCm39)	Y177H	probably damaging	Het
Srbd1	T	C	17: 86,433,559 (GRCm39)	Y346C	probably damaging	Het
Syne2	A	G	12: 76,037,197 (GRCm39)	E3792G	probably damaging	Het
Tg	C	G	15: 66,637,991 (GRCm39)	T2268S	probably benign	Het
Thbs1	A	G	2: 117,950,716 (GRCm39)	N721S	probably benign	Het
Treh	A	G	9: 44,594,648 (GRCm39)	Y275C	probably damaging	Het
Trpv5	G	T	6: 41,651,594 (GRCm39)	H195N	possibly damaging	Het
Tshz1	A	G	18: 84,032,579 (GRCm39)	S610P	possibly damaging	Het
Ttll4	A	G	1: 74,720,482 (GRCm39)	N499S	probably benign	Het
Ttn	G	T	2: 76,748,927 (GRCm39)	H4041N	probably benign	Het
Ubtf	A	G	11: 102,199,718 (GRCm39)		probably null	Het
Urod	C	T	4: 116,849,778 (GRCm39)	V207M	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zc3h7b	C	T	15: 81,676,505 (GRCm39)	P749L	probably damaging	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
R4769:Lhx5	UTSW	5	120,574,503 (GRCm39)	missense	probably benign	0.22
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
R9802:Lhx5	UTSW	5	120,572,663 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGACCTGGACACTAGTACCAAC -3'
(R):5'- CTGAGATTAGACCAGACCAGCC -3'

Sequencing Primer
(F):5'- TGGACACTAGTACCAACTTCCC -3'
(R):5'- GGAGGTTGAGAGTGTCAGC -3'

Posted On

2022-10-06