Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Lhx4'

418877

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 #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

155573777-155627430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155580967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 186 (V186E)

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: V186E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: V186E

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: V125E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468
AA Change: V125E

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	C	A	1: 58,321,918 (GRCm39)	T70K	probably benign	Het
Armt1	T	A	10: 4,389,615 (GRCm39)	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,120,934 (GRCm39)	L46S	probably damaging	Het
Baz1a	A	G	12: 54,941,743 (GRCm39)	S1488P	probably damaging	Het
Coro7	T	A	16: 4,446,990 (GRCm39)	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,732,885 (GRCm39)	R555L	probably damaging	Het
Dclk2	A	G	3: 86,743,666 (GRCm39)	C268R	probably damaging	Het
Dock7	A	T	4: 98,847,260 (GRCm39)	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,178,384 (GRCm39)	C2092*	probably null	Het
Dtx1	T	A	5: 120,833,030 (GRCm39)	Q136L	possibly damaging	Het
Egln3	C	T	12: 54,249,981 (GRCm39)		probably benign	Het
Eml5	A	T	12: 98,827,504 (GRCm39)	Y575*	probably null	Het
Entpd5	A	T	12: 84,431,022 (GRCm39)	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,634,946 (GRCm39)	F188L	probably damaging	Het
Frrs1	T	C	3: 116,675,431 (GRCm39)	S120P	probably benign	Het
Gadl1	T	C	9: 115,903,108 (GRCm39)	I479T	possibly damaging	Het
Gfra2	A	T	14: 71,205,725 (GRCm39)	M106L	probably benign	Het
Gm17455	T	A	10: 60,239,060 (GRCm39)	C108*	probably null	Het
Grhpr	A	G	4: 44,983,867 (GRCm39)		probably benign	Het
Hsp90ab1	G	A	17: 45,882,449 (GRCm39)	R82C	probably damaging	Het
Igsf10	T	C	3: 59,226,905 (GRCm39)	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,703,384 (GRCm39)	I160F	probably benign	Het
Krtap5-5	A	G	7: 141,783,450 (GRCm39)	C67R	unknown	Het
Lrrk2	T	C	15: 91,631,958 (GRCm39)	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,007,801 (GRCm39)	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Mov10	G	A	3: 104,704,623 (GRCm39)	R763W	probably damaging	Het
Mto1	T	C	9: 78,356,802 (GRCm39)	S106P	probably damaging	Het
Naca	C	T	10: 127,876,233 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or8s10	A	G	15: 98,336,127 (GRCm39)	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,151,532 (GRCm39)		probably benign	Het
Pold1	T	C	7: 44,190,004 (GRCm39)	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,388,904 (GRCm39)	S377T	probably benign	Het
Sirpd	G	T	3: 15,397,283 (GRCm39)		probably benign	Het
Slc36a3	A	G	11: 55,015,946 (GRCm39)	S403P	probably damaging	Het
Slc4a4	A	G	5: 89,297,231 (GRCm39)	T480A	probably damaging	Het
Slu7	G	A	11: 43,332,883 (GRCm39)	V315I	probably benign	Het
St6galnac3	T	C	3: 152,911,115 (GRCm39)	E282G	probably damaging	Het
Tlr12	A	G	4: 128,509,685 (GRCm39)	V855A	probably benign	Het
Tut7	T	C	13: 59,962,717 (GRCm39)	D350G	probably benign	Het
Vmn1r53	T	A	6: 90,200,944 (GRCm39)	K127*	probably null	Het
Vmn1r72	T	G	7: 11,403,812 (GRCm39)	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,282,501 (GRCm39)	Q705L	probably damaging	Het
Vps33b	C	T	7: 79,925,831 (GRCm39)	R93C	probably damaging	Het
Wdr91	T	A	6: 34,882,491 (GRCm39)	E219D	probably benign	Het
Zan	G	A	5: 137,461,762 (GRCm39)	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,317,278 (GRCm39)	K107N	probably damaging	Het
Zmym2	A	G	14: 57,187,784 (GRCm39)	E1150G	possibly damaging	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
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

2016-08-02