Mutagenetix > Incidental Mutation

Incidental Mutation 'R9532:Lhx4'

719504

Institutional Source

Beutler Lab

Gene Symbol

Lhx4

Ensembl Gene

ENSMUSG00000026468

Gene Name

LIM homeobox protein 4

Synonyms

Gsh4, Gsh-4, A330062J17Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155573777-155627430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155586024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 96 (I96F)

Ref Sequence

ENSEMBL: ENSMUSP00000027740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027740] [ENSMUST00000195275]

AlphaFold

P53776

PDB Structure

The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027740
AA Change: I96F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: I96F

Domain	Start	End	E-Value	Type
LIM	29	80	3.39e-17	SMART
LIM	88	143	2.76e-17	SMART
HOX	157	219	5.79e-23	SMART
low complexity region	306	325	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468
AA Change: I35F

Domain	Start	End	E-Value	Type
LIM	27	82	1.3e-19	SMART
HOX	96	158	2.8e-25	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mutations in this gene result in abnormal lung development and neonatal lethality. [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
1700003H04Rik	T	C	3: 124,350,397 (GRCm39)	N165S	unknown	Het
9530002B09Rik	C	A	4: 122,596,133 (GRCm39)	N121K	unknown	Het
Abca1	A	T	4: 53,109,284 (GRCm39)	N141K	probably benign	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Bco2	T	C	9: 50,457,371 (GRCm39)	N57S	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cacna1a	T	A	8: 85,338,246 (GRCm39)	W1709R	probably damaging	Het
Cep95	A	G	11: 106,687,042 (GRCm39)	E117G	probably damaging	Het
D17H6S53E	T	A	17: 35,346,145 (GRCm39)	S19T	possibly damaging	Het
Dab2	G	T	15: 6,451,762 (GRCm39)	R126L	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Espl1	T	A	15: 102,228,260 (GRCm39)	L1678*	probably null	Het
Fam171b	T	C	2: 83,710,212 (GRCm39)	V628A	probably damaging	Het
Fgf8	A	T	19: 45,725,679 (GRCm39)	V186E	probably damaging	Het
Fmnl2	A	T	2: 53,006,941 (GRCm39)	Y751F	unknown	Het
Frmpd1	A	T	4: 45,278,886 (GRCm39)	E537V		Het
Garin3	A	G	11: 46,297,673 (GRCm39)	T326A		Het
Grin1	C	T	2: 25,187,909 (GRCm39)	G529D	probably damaging	Het
Heatr1	C	T	13: 12,429,306 (GRCm39)	T872I	possibly damaging	Het
Hectd4	T	C	5: 121,502,616 (GRCm39)	I4240T	probably benign	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Hyls1	T	A	9: 35,473,398 (GRCm39)	Q6L	probably benign	Het
Igfn1	A	T	1: 135,897,229 (GRCm39)	D1112E	possibly damaging	Het
Ighv1-82	T	G	12: 115,916,158 (GRCm39)	R117S	probably damaging	Het
Iqch	G	A	9: 63,389,935 (GRCm39)	A748V		Het
Kcnd2	G	T	6: 21,727,180 (GRCm39)	A578S	probably benign	Het
Klc2	A	G	19: 5,161,565 (GRCm39)	V315A	possibly damaging	Het
Klhl20	A	T	1: 160,937,329 (GRCm39)	D15E	probably benign	Het
Lamb2	G	T	9: 108,365,830 (GRCm39)	G1445W	probably damaging	Het
Lyzl6	T	C	11: 103,522,168 (GRCm39)	T143A	probably benign	Het
Nup93	G	A	8: 95,041,249 (GRCm39)	A796T	probably damaging	Het
Nutm2	T	C	13: 50,628,475 (GRCm39)	V513A	probably benign	Het
Or51s1	A	G	7: 102,558,746 (GRCm39)	V100A	probably benign	Het
Or52e4	A	T	7: 104,706,275 (GRCm39)	H274L	probably damaging	Het
Pcdh8	A	G	14: 80,008,206 (GRCm39)	V119A	possibly damaging	Het
Pkmyt1	T	C	17: 23,954,691 (GRCm39)	I427T	probably benign	Het
Polr1g	A	T	7: 19,091,817 (GRCm39)	S97T	possibly damaging	Het
Polr3c	T	C	3: 96,629,866 (GRCm39)	D222G	probably null	Het
Prickle2	A	T	6: 92,683,096 (GRCm39)	S11T	probably benign	Het
Prpf8	G	A	11: 75,385,608 (GRCm39)	A930T	probably benign	Het
Prss40	G	T	1: 34,597,106 (GRCm39)	H147Q	probably damaging	Het
Prune2	A	T	19: 17,099,794 (GRCm39)	D1766V	probably benign	Het
Qrich1	C	T	9: 108,411,519 (GRCm39)	T348M	probably benign	Het
Slc20a1	T	C	2: 129,041,933 (GRCm39)	Y99H	probably damaging	Het
Slc6a15	T	C	10: 103,240,333 (GRCm39)	V352A	probably damaging	Het
Ttll3	A	G	6: 113,385,970 (GRCm39)	Q601R	possibly damaging	Het
Virma	T	C	4: 11,507,078 (GRCm39)		probably null	Het
Washc4	A	G	10: 83,417,258 (GRCm39)		probably benign	Het
Zdhhc18	A	T	4: 133,342,541 (GRCm39)	M191K	possibly damaging	Het
Zfp281	A	G	1: 136,554,894 (GRCm39)	N624S	probably benign	Het

Other mutations in Lhx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02366:Lhx4	APN	1	155,580,934 (GRCm39)	missense	possibly damaging	0.90
IGL02516:Lhx4	APN	1	155,578,003 (GRCm39)	missense	probably damaging	1.00
IGL02806:Lhx4	APN	1	155,577,975 (GRCm39)	missense	probably benign	0.22
IGL03104:Lhx4	APN	1	155,580,967 (GRCm39)	missense	probably damaging	1.00
R3434:Lhx4	UTSW	1	155,578,147 (GRCm39)	missense	probably damaging	0.99
R3438:Lhx4	UTSW	1	155,578,230 (GRCm39)	missense	probably benign	0.10
R4369:Lhx4	UTSW	1	155,580,560 (GRCm39)	missense	probably benign	0.01
R4392:Lhx4	UTSW	1	155,585,880 (GRCm39)	missense	probably damaging	1.00
R4873:Lhx4	UTSW	1	155,581,013 (GRCm39)	missense	possibly damaging	0.90
R4875:Lhx4	UTSW	1	155,581,013 (GRCm39)	missense	possibly damaging	0.90
R5937:Lhx4	UTSW	1	155,586,023 (GRCm39)	missense	probably damaging	1.00
R6329:Lhx4	UTSW	1	155,578,300 (GRCm39)	missense	probably benign	0.00
R6694:Lhx4	UTSW	1	155,580,456 (GRCm39)	missense	probably benign	0.05
R7212:Lhx4	UTSW	1	155,600,699 (GRCm39)	missense	probably benign	0.01
R7418:Lhx4	UTSW	1	155,586,005 (GRCm39)	missense	probably damaging	1.00
R7653:Lhx4	UTSW	1	155,580,617 (GRCm39)	missense	probably damaging	1.00
R7900:Lhx4	UTSW	1	155,617,709 (GRCm39)	intron	probably benign
R8210:Lhx4	UTSW	1	155,586,214 (GRCm39)	splice site	probably null
R8510:Lhx4	UTSW	1	155,578,047 (GRCm39)	missense	probably damaging	1.00
R8889:Lhx4	UTSW	1	155,581,013 (GRCm39)	missense	possibly damaging	0.90
R8892:Lhx4	UTSW	1	155,581,013 (GRCm39)	missense	possibly damaging	0.90
R9300:Lhx4	UTSW	1	155,580,956 (GRCm39)	missense	probably damaging	1.00
R9322:Lhx4	UTSW	1	155,578,353 (GRCm39)	missense	probably benign	0.00
Z1176:Lhx4	UTSW	1	155,581,001 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGGACTAGGCTGAGCATC -3'
(R):5'- AATGAAGCTATCAGGAGGCC -3'

Sequencing Primer
(F):5'- ATGAGCATGGCCAGCTCTG -3'
(R):5'- GGCCTAGAGTACCCGTAACCTTTAG -3'

Posted On

2022-07-18