Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02366:Lhx4'

290722

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02366

Quality Score

Status

Chromosome

Chromosomal Location

155573777-155627430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155580934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 197 (D197G)

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

possibly damaging
Transcript: ENSMUST00000027740
AA Change: D197G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: D197G

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

possibly damaging
Transcript: ENSMUST00000195275
AA Change: D136G

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468
AA Change: D136G

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

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 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	A	15: 12,810,859 (GRCm39)	H339L	probably benign	Het
Abcc1	T	C	16: 14,285,843 (GRCm39)		probably benign	Het
Ankrd55	T	C	13: 112,454,994 (GRCm39)	Y3H	probably damaging	Het
Armcx4	A	C	X: 133,592,261 (GRCm39)	K723T	possibly damaging	Het
Brinp3	T	A	1: 146,577,481 (GRCm39)	V172D	possibly damaging	Het
Cemip	C	T	7: 83,592,849 (GRCm39)	R1226Q	probably benign	Het
Cntn5	A	T	9: 9,984,060 (GRCm39)		probably benign	Het
Cyld	T	C	8: 89,456,381 (GRCm39)	V474A	probably damaging	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Efhc1	A	G	1: 21,030,486 (GRCm39)	N140D	probably damaging	Het
Eif6	A	G	2: 155,668,092 (GRCm39)	V49A	probably benign	Het
Epha4	G	T	1: 77,403,348 (GRCm39)	Y386*	probably null	Het
Ggnbp2	T	C	11: 84,732,427 (GRCm39)	K222R	probably damaging	Het
Gm5117	T	C	8: 32,227,887 (GRCm39)		noncoding transcript	Het
Gm5852	A	T	3: 93,634,568 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,340,048 (GRCm39)	V243A	probably benign	Het
Hal	A	G	10: 93,339,390 (GRCm39)	N493S	probably damaging	Het
Insrr	A	G	3: 87,717,216 (GRCm39)	T731A	possibly damaging	Het
Irs4	A	T	X: 140,506,900 (GRCm39)	L432H	probably damaging	Het
Kdm4a	T	G	4: 118,017,703 (GRCm39)		probably null	Het
Mllt10	T	A	2: 18,069,898 (GRCm39)	M18K	probably damaging	Het
Nars1	T	C	18: 64,636,599 (GRCm39)	T422A	possibly damaging	Het
Ncf2	A	G	1: 152,710,824 (GRCm39)	D445G	probably benign	Het
Ndor1	C	A	2: 25,137,993 (GRCm39)	G544V	possibly damaging	Het
Notch3	C	A	17: 32,363,179 (GRCm39)	R1268L	probably benign	Het
Or51ac3	A	T	7: 103,213,622 (GRCm39)	V288D	probably damaging	Het
Or5b117	T	C	19: 13,431,491 (GRCm39)	Y130C	probably damaging	Het
Or6c202	A	T	10: 128,996,494 (GRCm39)	Y120N	probably damaging	Het
Or8g2	T	C	9: 39,821,288 (GRCm39)	L63P	probably damaging	Het
Osgep	T	C	14: 51,157,407 (GRCm39)	D72G	probably damaging	Het
Pank4	C	T	4: 155,054,085 (GRCm39)	T88I	probably benign	Het
Pcgf6	T	C	19: 47,038,894 (GRCm39)	E122G	possibly damaging	Het
Ppp1r21	A	G	17: 88,855,090 (GRCm39)	H123R	probably damaging	Het
Prex1	A	C	2: 166,422,347 (GRCm39)	L28R	probably damaging	Het
Rbl1	A	T	2: 157,016,813 (GRCm39)	N595K	probably benign	Het
Rnf148	T	C	6: 23,654,058 (GRCm39)	I313V	probably benign	Het
Rnf220	T	C	4: 117,346,980 (GRCm39)	N144S	probably benign	Het
Sbno2	G	A	10: 79,900,036 (GRCm39)	T577I	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Slco1a5	A	T	6: 142,195,941 (GRCm39)	V354D	possibly damaging	Het
Slit2	A	T	5: 48,461,410 (GRCm39)	T1486S	possibly damaging	Het
Snd1	T	C	6: 28,707,149 (GRCm39)		probably benign	Het
Sval3	T	C	6: 41,946,659 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,688,258 (GRCm39)	L1239P	probably damaging	Het
Trpm6	T	C	19: 18,755,874 (GRCm39)		probably benign	Het
Ttc9	A	C	12: 81,678,384 (GRCm39)	D69A	possibly damaging	Het
Ttn	A	T	2: 76,593,580 (GRCm39)	L20687M	probably benign	Het
Zfp748	T	A	13: 67,693,546 (GRCm39)		probably benign	Het

Other mutations in Lhx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9532:Lhx4	UTSW	1	155,586,024 (GRCm39)	missense	probably damaging	1.00
Z1176:Lhx4	UTSW	1	155,581,001 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16