Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Lhx4'

326390

Institutional Source

Beutler Lab

Gene Symbol

Lhx4

Ensembl Gene

ENSMUSG00000026468

Gene Name

LIM homeobox protein 4

Synonyms

Gsh-4, Gsh4, A330062J17Rik

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4392 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

155698031-155751684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155710134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 83 (Y83H)

Ref Sequence

ENSEMBL: ENSMUSP00000141662 (fasta)

Gene Model

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

AlphaFold

P53776

Predicted Effect

probably damaging
Transcript: ENSMUST00000027740
AA Change: Y144H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: Y144H

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 damaging
Transcript: ENSMUST00000195275
AA Change: Y83H

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

SMART Domains

Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468
AA Change: Y83H

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

Meta Mutation Damage Score

0.7853

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978		probably null	Het
Abca13	A	C	11: 9,309,034	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249		probably null	Het
Bmp7	T	G	2: 172,916,542	D178A	probably benign	Het
Brsk1	T	A	7: 4,698,750	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464		probably benign	Het
Col12a1	T	A	9: 79,662,488	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229	R1188H	probably benign	Het
Dopey1	T	C	9: 86,503,143		probably benign	Het
Efcab5	T	A	11: 77,090,458	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641		probably null	Het
Elmsan1	A	T	12: 84,173,111	D356E	probably benign	Het
Erlec1	A	G	11: 30,943,697		probably null	Het
Esp24	T	C	17: 39,040,077		probably benign	Het
Esp34	T	C	17: 38,559,491	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,568,232		probably benign	Het
Foxc2	T	C	8: 121,117,452	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,260,629	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Mdga1	T	C	17: 29,850,656	T413A	probably damaging	Het
Mmrn2	T	A	14: 34,397,616	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,259,589	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881		probably null	Het
Nkain3	C	A	4: 20,282,985	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272	Q212P	probably damaging	Het
Olfr268-ps1	T	C	2: 111,844,345		noncoding transcript	Het
Olfr726	A	G	14: 50,084,603	F26S	probably benign	Het
Otog	T	C	7: 46,285,124	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452		probably benign	Het
Slc10a1	C	A	12: 80,967,804	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752	T631I	probably benign	Het
Tmprss15	A	G	16: 79,024,438	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,795,509		probably null	Het
Trpm7	A	T	2: 126,848,538	W207R	probably damaging	Het
Ttc26	A	G	6: 38,381,557		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643	C419*	probably null	Het

Other mutations in Lhx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02366:Lhx4	APN	1	155705188	missense	possibly damaging	0.90
IGL02516:Lhx4	APN	1	155702257	missense	probably damaging	1.00
IGL02806:Lhx4	APN	1	155702229	missense	probably benign	0.22
IGL03104:Lhx4	APN	1	155705221	missense	probably damaging	1.00
R3434:Lhx4	UTSW	1	155702401	missense	probably damaging	0.99
R3438:Lhx4	UTSW	1	155702484	missense	probably benign	0.10
R4369:Lhx4	UTSW	1	155704814	missense	probably benign	0.01
R4873:Lhx4	UTSW	1	155705267	missense	possibly damaging	0.90
R4875:Lhx4	UTSW	1	155705267	missense	possibly damaging	0.90
R5937:Lhx4	UTSW	1	155710277	missense	probably damaging	1.00
R6329:Lhx4	UTSW	1	155702554	missense	probably benign	0.00
R6694:Lhx4	UTSW	1	155704710	missense	probably benign	0.05
R7212:Lhx4	UTSW	1	155724953	missense	probably benign	0.01
R7418:Lhx4	UTSW	1	155710259	missense	probably damaging	1.00
R7653:Lhx4	UTSW	1	155704871	missense	probably damaging	1.00
R7900:Lhx4	UTSW	1	155741963	intron	probably benign
R8210:Lhx4	UTSW	1	155710468	splice site	probably null
R8510:Lhx4	UTSW	1	155702301	missense	probably damaging	1.00
R8889:Lhx4	UTSW	1	155705267	missense	possibly damaging	0.90
R8892:Lhx4	UTSW	1	155705267	missense	possibly damaging	0.90
R9300:Lhx4	UTSW	1	155705210	missense	probably damaging	1.00
R9322:Lhx4	UTSW	1	155702607	missense	probably benign	0.00
R9532:Lhx4	UTSW	1	155710278	missense	probably damaging	1.00
Z1176:Lhx4	UTSW	1	155705255	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCAAGGTCTGAGGGTTTG -3'
(R):5'- AGGTTGATGAGACCCCAATCTC -3'

Sequencing Primer
(F):5'- AGGGTTTGGAGATTGCTCAGAAC -3'
(R):5'- TGCCCTAACAGACGCTTTGG -3'

Posted On

2015-07-06