Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02806:Lhx4'

360419

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 #

IGL02806

Quality Score

Status

Chromosome

Chromosomal Location

155573777-155627430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155577975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 389 (P389L)

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 benign
Transcript: ENSMUST00000027740
AA Change: P389L

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: P389L

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

probably benign
Transcript: ENSMUST00000195275

SMART Domains

Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,088,737 (GRCm39)	D195G	probably damaging	Het
Acsm1	G	A	7: 119,235,861 (GRCm39)	D194N	probably benign	Het
Akr1b1	T	C	6: 34,281,254 (GRCm39)	Y310C	probably damaging	Het
Aldh6a1	T	C	12: 84,486,414 (GRCm39)	D168G	probably damaging	Het
Ankrd29	A	C	18: 12,408,795 (GRCm39)	S166A	probably benign	Het
Ap1m2	T	G	9: 21,216,979 (GRCm39)	D119A	probably damaging	Het
Atp1a3	T	C	7: 24,681,297 (GRCm39)	K776R	probably damaging	Het
Bltp1	A	G	3: 37,000,643 (GRCm39)	D1274G	possibly damaging	Het
Cacna2d3	A	C	14: 29,073,907 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,921,316 (GRCm39)	M401T	probably benign	Het
Cchcr1	A	G	17: 35,836,153 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx60	T	A	8: 62,409,156 (GRCm39)	D397E	probably benign	Het
Duox2	T	C	2: 122,115,147 (GRCm39)	H1110R	probably damaging	Het
Ephb3	C	A	16: 21,041,031 (GRCm39)	D696E	probably benign	Het
Ermap	T	C	4: 119,046,113 (GRCm39)	K6E	possibly damaging	Het
Gm3095	A	G	14: 15,170,388 (GRCm39)	D79G	possibly damaging	Het
Hnrnpab	A	G	11: 51,496,305 (GRCm39)	S126P	probably benign	Het
Hyou1	C	A	9: 44,300,180 (GRCm39)	S823*	probably null	Het
Klhl31	T	A	9: 77,563,056 (GRCm39)	V607E	probably damaging	Het
Klrc3	A	T	6: 129,616,065 (GRCm39)	C209S	possibly damaging	Het
Lmntd2	T	C	7: 140,791,952 (GRCm39)	T264A	probably benign	Het
Mkx	T	C	18: 6,937,025 (GRCm39)	D302G	probably damaging	Het
Ms4a4d	T	C	19: 11,533,610 (GRCm39)	S164P	possibly damaging	Het
Myo1e	A	G	9: 70,269,552 (GRCm39)	E651G	probably benign	Het
Myo5b	G	A	18: 74,750,151 (GRCm39)		probably null	Het
Ncoa3	A	G	2: 165,894,352 (GRCm39)	I298V	probably benign	Het
Nek1	G	A	8: 61,497,120 (GRCm39)	M389I	probably benign	Het
Nid1	T	A	13: 13,642,897 (GRCm39)	D278E	probably benign	Het
Nkx2-9	C	T	12: 56,658,705 (GRCm39)	V170M	probably damaging	Het
Or51ag1	T	A	7: 103,155,210 (GRCm39)	K314N	probably benign	Het
Oxsr1	T	C	9: 119,070,260 (GRCm39)	D511G	possibly damaging	Het
Pramel14	T	A	4: 143,719,501 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,080,799 (GRCm39)	L329S	possibly damaging	Het
Setd7	A	T	3: 51,457,688 (GRCm39)	N46K	probably damaging	Het
Snx10	T	A	6: 51,565,329 (GRCm39)	F149I	probably damaging	Het
Sult2a3	T	A	7: 13,856,857 (GRCm39)	E21V	probably damaging	Het
Tas2r135	T	C	6: 42,383,382 (GRCm39)	F307S	probably benign	Het
Tmem131l	T	C	3: 83,836,123 (GRCm39)		probably benign	Het
Tnfsf18	T	G	1: 161,331,348 (GRCm39)	M166R	possibly damaging	Het
Toe1	C	T	4: 116,663,527 (GRCm39)	V88M	possibly damaging	Het
Ttk	T	A	9: 83,744,540 (GRCm39)	C577*	probably null	Het
Ush2a	T	A	1: 188,542,554 (GRCm39)	Y3373*	probably null	Het
Vwa8	A	G	14: 79,394,528 (GRCm39)	D1543G	probably benign	Het
Zfhx4	A	T	3: 5,455,468 (GRCm39)	H1154L	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
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

2015-12-18