Mutagenetix > Incidental Mutation

Incidental Mutation 'R7122:Lhx5'

552063

Institutional Source

Beutler Lab

Gene Symbol

Lhx5

Ensembl Gene

ENSMUSG00000029595

Gene Name

LIM homeobox protein 5

Synonyms

Lim2

MMRRC Submission

045245-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R7122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120569764-120579288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120574410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 238 (M238K)

Ref Sequence

ENSEMBL: ENSMUSP00000031591 (fasta)

Gene Model

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

AlphaFold

P61375

Predicted Effect

probably benign
Transcript: ENSMUST00000031591
AA Change: M238K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: M238K

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,561,275 (GRCm39)	E126V	probably benign	Het
Alg3	A	T	16: 20,426,602 (GRCm39)	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,059,503 (GRCm39)	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Aup1	A	G	6: 83,032,123 (GRCm39)	T97A	probably benign	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 179,892,583 (GRCm39)	L249P	probably damaging	Het
Celsr3	A	G	9: 108,705,766 (GRCm39)	K750E	possibly damaging	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Csmd2	G	A	4: 128,343,020 (GRCm39)	V1471M		Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
E4f1	G	A	17: 24,663,808 (GRCm39)	Q569*	probably null	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw24	A	T	9: 109,430,328 (GRCm39)	C439S	probably benign	Het
Ftdc2	C	A	16: 58,458,140 (GRCm39)	A54S	probably benign	Het
Gmip	C	T	8: 70,270,452 (GRCm39)	P721S	probably benign	Het
Grip1	A	G	10: 119,871,279 (GRCm39)	I669V	possibly damaging	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Herc1	G	T	9: 66,307,056 (GRCm39)	A959S	possibly damaging	Het
Hic1	A	G	11: 75,060,056 (GRCm39)	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189 (GRCm39)	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,450,317 (GRCm39)	V69G	unknown	Het
Jak3	T	A	8: 72,138,601 (GRCm39)	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,665,757 (GRCm39)	V530I	probably damaging	Het
Kif22	G	A	7: 126,632,150 (GRCm39)	R345C	probably benign	Het
Klhl7	G	A	5: 24,343,433 (GRCm39)	E250K	probably damaging	Het
Klk1b4	A	G	7: 43,860,531 (GRCm39)	H183R	probably damaging	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Lin28b	A	T	10: 45,345,244 (GRCm39)	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,214,070 (GRCm39)	R18*	probably null	Het
Myct1	C	A	10: 5,554,492 (GRCm39)	H120N	probably damaging	Het
Nek1	A	T	8: 61,559,829 (GRCm39)	D984V	probably benign	Het
Nfu1	A	T	6: 86,986,863 (GRCm39)		probably benign	Het
Nipsnap1	A	T	11: 4,833,366 (GRCm39)		probably null	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nrxn3	T	A	12: 89,477,377 (GRCm39)	M520K	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	A	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or2a5	T	C	6: 42,874,024 (GRCm39)	V213A	probably damaging	Het
Or52n5	T	C	7: 104,588,405 (GRCm39)	L224P	probably damaging	Het
Otogl	C	T	10: 107,702,515 (GRCm39)	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Plpp4	G	T	7: 128,981,207 (GRCm39)	V153F	unknown	Het
Plxna2	C	A	1: 194,326,876 (GRCm39)	S270*	probably null	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Ptpn21	C	T	12: 98,655,171 (GRCm39)	V599I	probably damaging	Het
Rab26	C	A	17: 24,749,652 (GRCm39)	R131L	probably damaging	Het
Raph1	A	T	1: 60,565,136 (GRCm39)	V117D	probably benign	Het
Sacs	T	C	14: 61,447,845 (GRCm39)	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,095,796 (GRCm39)	A262S	probably benign	Het
Sgf29	A	G	7: 126,271,221 (GRCm39)	D193G	probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Sipa1l1	T	C	12: 82,469,236 (GRCm39)	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,749,224 (GRCm39)	L31P	probably damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639 (GRCm39)	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318 (GRCm39)	R225*	probably null	Het
Suz12	T	A	11: 79,884,419 (GRCm39)	F92I	probably damaging	Het
Tmem114	C	A	16: 8,242,610 (GRCm39)		probably benign	Het
Tmem68	A	G	4: 3,564,107 (GRCm39)	V159A	probably benign	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trim45	A	G	3: 100,839,353 (GRCm39)	T752A	unknown	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,017,761 (GRCm39)	K858N	possibly damaging	Het
Zfp629	A	T	7: 127,210,484 (GRCm39)	S442T	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
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'- GCCCAAATACTCGAGGAAGC -3'

Sequencing Primer
(F):5'- GGACTAATCCGGCCCAGC -3'
(R):5'- AGCCTGGAAGAGCTGTGC -3'

Posted On

2019-05-15