Mutagenetix > Incidental Mutation

Incidental Mutation 'R5105:Lhx3'

401966

Institutional Source

Beutler Lab

Gene Symbol

Lhx3

Ensembl Gene

ENSMUSG00000026934

Gene Name

LIM homeobox protein 3

Synonyms

Lim3, mLim-3, P-LIM

MMRRC Submission

042693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5105 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

26090224-26098261 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCCTACGGGCCGGCCC to TCC at 26091435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028302] [ENSMUST00000054099]

AlphaFold

P50481

PDB Structure

NMR Solution Structure of a ldb1-LID:Lhx3-LIM complex [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000028302

SMART Domains

Protein: ENSMUSP00000028302
Gene: ENSMUSG00000026934

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
LIM	35	86	4.18e-17	SMART
LIM	94	149	7.8e-17	SMART
HOX	162	224	7.13e-23	SMART
low complexity region	237	249	N/A	INTRINSIC
low complexity region	323	342	N/A	INTRINSIC
low complexity region	353	362	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000054099

SMART Domains

Protein: ENSMUSP00000056822
Gene: ENSMUSG00000026934

Domain	Start	End	E-Value	Type
LIM	33	84	4.18e-17	SMART
LIM	92	147	7.8e-17	SMART
HOX	160	222	7.13e-23	SMART
low complexity region	235	247	N/A	INTRINSIC
low complexity region	321	340	N/A	INTRINSIC
low complexity region	351	360	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127035

SMART Domains

Protein: ENSMUSP00000134884
Gene: ENSMUSG00000026934

Domain	Start	End	E-Value	Type
Pfam:Homeobox	1	17	6.2e-5	PFAM
low complexity region	35	47	N/A	INTRINSIC
low complexity region	121	140	N/A	INTRINSIC
low complexity region	151	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149637

SMART Domains

Protein: ENSMUSP00000135765
Gene: ENSMUSG00000026934

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	22	38	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (52/54)

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 family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit failure of growth and differentiation of Rathke's pouch, lack both anterior and intermediate lobes of the pituitary gland, and die perinatally, within 24 hours of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd8	T	G	5: 107,658,337 (GRCm39)	S1124A	possibly damaging	Het
Camsap1	A	G	2: 25,830,941 (GRCm39)	S445P	probably damaging	Het
Ccdc92	G	A	5: 124,912,858 (GRCm39)	P224S	probably damaging	Het
Cep135	T	C	5: 76,741,939 (GRCm39)	V125A	probably benign	Het
Cep192	T	A	18: 67,999,612 (GRCm39)	C2159S	probably benign	Het
Col1a1	G	T	11: 94,833,211 (GRCm39)	R404L	unknown	Het
Col6a3	A	T	1: 90,725,862 (GRCm39)	M1382K	possibly damaging	Het
Cyp4a12b	T	C	4: 115,290,958 (GRCm39)	S329P	probably damaging	Het
Dclk1	T	G	3: 55,163,360 (GRCm39)	S151A	probably benign	Het
Ddhd1	A	T	14: 45,894,864 (GRCm39)	V202E	probably benign	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,888,546 (GRCm39)	E3050G	probably benign	Het
Dync1h1	T	A	12: 110,584,366 (GRCm39)	F590I	probably damaging	Het
Eif4b	T	C	15: 101,992,631 (GRCm39)	Y63H	probably benign	Het
Fscb	T	C	12: 64,520,110 (GRCm39)	E452G	possibly damaging	Het
Gpx3	A	T	11: 54,797,980 (GRCm39)	T39S	possibly damaging	Het
Grin2b	T	A	6: 135,709,439 (GRCm39)	Y1369F	probably benign	Het
Kank4	A	T	4: 98,667,396 (GRCm39)	N350K	probably benign	Het
Kdm5d	A	G	Y: 941,752 (GRCm39)	K1318E	probably benign	Het
Large1	A	T	8: 73,578,872 (GRCm39)	Y444*	probably null	Het
Lrrc47	A	G	4: 154,096,673 (GRCm39)	Q156R	probably damaging	Het
Lrriq4	T	C	3: 30,704,632 (GRCm39)	L220P	probably damaging	Het
Matn2	A	G	15: 34,355,814 (GRCm39)	D273G	possibly damaging	Het
Myo18b	T	A	5: 112,988,644 (GRCm39)	I981F	probably damaging	Het
Or1q1	G	A	2: 36,887,469 (GRCm39)		probably null	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or5aq1	A	G	2: 86,966,554 (GRCm39)	I37T	probably benign	Het
Or6b13	A	G	7: 139,782,462 (GRCm39)	Y74H	probably damaging	Het
Or8d6	T	C	9: 39,853,694 (GRCm39)	V46A	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Ppp3cb	A	G	14: 20,559,490 (GRCm39)	V422A	possibly damaging	Het
Rlf	G	A	4: 121,007,564 (GRCm39)	T472I	probably damaging	Het
Scaf11	T	C	15: 96,318,313 (GRCm39)	E417G	probably damaging	Het
Shisa2	A	T	14: 59,867,263 (GRCm39)	T172S	possibly damaging	Het
Siglec1	T	A	2: 130,922,320 (GRCm39)	Q585L	possibly damaging	Het
Sorcs1	A	T	19: 50,213,579 (GRCm39)	M716K	possibly damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stxbp5l	C	A	16: 36,962,734 (GRCm39)	V774F	probably benign	Het
Tcaf3	A	G	6: 42,568,259 (GRCm39)	F699S	probably damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Trpc6	T	A	9: 8,649,471 (GRCm39)	N560K	probably benign	Het
Trpv4	T	A	5: 114,764,981 (GRCm39)	I678F	probably damaging	Het
Ttc3	A	T	16: 94,267,793 (GRCm39)	H1935L	possibly damaging	Het
Vmn2r59	T	A	7: 41,696,529 (GRCm39)	Y71F	probably benign	Het
Wdfy3	A	G	5: 102,003,415 (GRCm39)	I2900T	probably damaging	Het
Zfp184	A	G	13: 22,143,799 (GRCm39)	T502A	possibly damaging	Het
Zmym6	A	G	4: 127,017,551 (GRCm39)	I1019V	probably benign	Het

Other mutations in Lhx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02309:Lhx3	APN	2	26,091,385 (GRCm39)	missense	probably benign
IGL02691:Lhx3	APN	2	26,093,097 (GRCm39)	missense	probably damaging	1.00
R0267:Lhx3	UTSW	2	26,093,040 (GRCm39)	missense	probably benign	0.02
R0571:Lhx3	UTSW	2	26,091,136 (GRCm39)	missense	probably damaging	1.00
R0574:Lhx3	UTSW	2	26,091,323 (GRCm39)	missense	probably benign	0.00
R1866:Lhx3	UTSW	2	26,093,986 (GRCm39)	missense	probably damaging	0.99
R1926:Lhx3	UTSW	2	26,092,200 (GRCm39)	nonsense	probably null
R1940:Lhx3	UTSW	2	26,093,974 (GRCm39)	missense	probably benign	0.05
R3147:Lhx3	UTSW	2	26,091,277 (GRCm39)	missense	probably benign	0.01
R4389:Lhx3	UTSW	2	26,091,102 (GRCm39)	utr 3 prime	probably benign
R4534:Lhx3	UTSW	2	26,094,026 (GRCm39)	missense	probably benign
R4551:Lhx3	UTSW	2	26,091,202 (GRCm39)	missense	probably damaging	1.00
R4761:Lhx3	UTSW	2	26,091,435 (GRCm39)	frame shift	probably null
R5102:Lhx3	UTSW	2	26,091,435 (GRCm39)	frame shift	probably null
R5431:Lhx3	UTSW	2	26,091,130 (GRCm39)	missense	probably damaging	1.00
R5673:Lhx3	UTSW	2	26,093,006 (GRCm39)	missense	probably damaging	1.00
R5751:Lhx3	UTSW	2	26,091,173 (GRCm39)	missense	probably benign
R6180:Lhx3	UTSW	2	26,091,503 (GRCm39)	missense	probably benign
R6262:Lhx3	UTSW	2	26,092,435 (GRCm39)	small deletion	probably benign
R7238:Lhx3	UTSW	2	26,093,009 (GRCm39)	missense	probably damaging	1.00
R8934:Lhx3	UTSW	2	26,092,258 (GRCm39)	missense	probably damaging	0.98
Z1176:Lhx3	UTSW	2	26,093,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAAGGCTCAAGTTGGTG -3'
(R):5'- TGAAGAGACTGTCCCTGACC -3'

Sequencing Primer
(F):5'- CTCAAGTTGGTGTCTGGGTATACC -3'
(R):5'- AAGACTGTCTCCTCTATTCAGTCAGG -3'

Posted On

2016-07-22