Mutagenetix > Incidental Mutation

Incidental Mutation 'R4369:Lhx4'

325877

Institutional Source

Beutler Lab

Gene Symbol

Lhx4

Ensembl Gene

ENSMUSG00000026468

Gene Name

LIM homeobox protein 4

Synonyms

Gsh4, Gsh-4, A330062J17Rik

MMRRC Submission

041116-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4369 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

155573777-155627430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155580560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 161 (H161L)

Ref Sequence

ENSEMBL: ENSMUSP00000141662 (fasta)

Gene Model

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

AlphaFold

P53776

Predicted Effect

probably benign
Transcript: ENSMUST00000027740
AA Change: H222L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: H222L

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
AA Change: H161L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468
AA Change: H161L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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
5730596B20Rik	A	T	6: 52,156,042 (GRCm39)		probably benign	Het
A730018C14Rik	T	C	12: 112,382,048 (GRCm39)		noncoding transcript	Het
Abcc1	T	G	16: 14,278,857 (GRCm39)	S1056A	possibly damaging	Het
Akr1c19	A	T	13: 4,283,779 (GRCm39)	K4*	probably null	Het
Amph	T	A	13: 19,321,870 (GRCm39)	S516R	probably benign	Het
Apoh	T	C	11: 108,288,205 (GRCm39)	F108L	probably damaging	Het
Arg2	T	C	12: 79,196,746 (GRCm39)	S156P	probably damaging	Het
AU018091	A	T	7: 3,207,815 (GRCm39)	L582*	probably null	Het
Bckdk	C	T	7: 127,505,591 (GRCm39)	A238V	probably benign	Het
Bean1	T	A	8: 104,943,742 (GRCm39)	V275D	probably damaging	Het
Brpf3	C	T	17: 29,055,594 (GRCm39)	A1181V	probably damaging	Het
Cfb	T	C	17: 35,079,290 (GRCm39)	K287R	probably damaging	Het
Cpd	T	C	11: 76,688,537 (GRCm39)	N912D	possibly damaging	Het
Cyp4f14	T	C	17: 33,128,232 (GRCm39)	N261S	probably benign	Het
Dennd3	T	C	15: 73,412,658 (GRCm39)	I440T	probably damaging	Het
Dhx38	C	T	8: 110,279,763 (GRCm39)	V976I	probably damaging	Het
Dpep2	T	G	8: 106,711,707 (GRCm39)	L573F	probably benign	Het
Ebag9	T	C	15: 44,491,865 (GRCm39)	S86P	probably benign	Het
Epha1	T	C	6: 42,342,391 (GRCm39)	Y319C	probably damaging	Het
Eps8l3	T	C	3: 107,798,330 (GRCm39)	Y466H	possibly damaging	Het
Ercc6	A	G	14: 32,239,164 (GRCm39)	E84G	probably damaging	Het
Ffar1	A	G	7: 30,560,033 (GRCm39)	I288T	probably benign	Het
Flnb	C	T	14: 7,942,216 (GRCm38)	T2398I	probably benign	Het
Galnt15	T	C	14: 31,751,496 (GRCm39)	F16S	possibly damaging	Het
Golgb1	A	G	16: 36,737,269 (GRCm39)	E2172G	probably damaging	Het
Lrp1	T	C	10: 127,386,155 (GRCm39)	N3457S	possibly damaging	Het
Map7d1	A	T	4: 126,128,866 (GRCm39)	S436T	probably damaging	Het
Nmral1	T	C	16: 4,532,394 (GRCm39)	Y139C	probably damaging	Het
Noc2l	A	G	4: 156,321,853 (GRCm39)	D84G	possibly damaging	Het
Or2a25	T	A	6: 42,889,211 (GRCm39)	Y251*	probably null	Het
Or5p79	C	T	7: 108,221,096 (GRCm39)	L26F	probably benign	Het
Osbpl11	T	C	16: 33,045,018 (GRCm39)	S386P	probably damaging	Het
Papss2	A	G	19: 32,618,791 (GRCm39)	H283R	probably damaging	Het
Pcdha11	T	C	18: 37,139,796 (GRCm39)	V475A	possibly damaging	Het
Pglyrp3	T	C	3: 91,935,386 (GRCm39)	I212T	probably damaging	Het
Pkhd1l1	C	T	15: 44,368,949 (GRCm39)	R865W	probably benign	Het
Prdm9	T	C	17: 15,764,708 (GRCm39)	T691A	probably benign	Het
Rnf121	T	C	7: 101,673,313 (GRCm39)	D206G	probably benign	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Shank2	T	C	7: 143,733,518 (GRCm39)	S22P	probably damaging	Het
Smg6	C	T	11: 74,823,269 (GRCm39)	R175*	probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Thsd7a	C	T	6: 12,468,907 (GRCm39)	C557Y	probably damaging	Het
Tiam2	A	G	17: 3,464,242 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,567 (GRCm39)	Y104H	probably benign	Het
Ttn	C	T	2: 76,594,345 (GRCm39)	W18788*	probably null	Het
Vmn2r82	A	T	10: 79,231,914 (GRCm39)	I638F	probably benign	Het
Zswim6	A	G	13: 107,863,229 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- GGGCCAAGAGGTTATCATCAG -3'
(R):5'- AGCTTTGGCCCATTTTCAGC -3'

Sequencing Primer
(F):5'- GGTTATCATCAGAAAGATCCCTCCTG -3'
(R):5'- TTCAGCCACTTGCCTCAAGGG -3'

Posted On

2015-07-06