Mutagenetix > Incidental Mutation

Incidental Mutation 'R4761:Lhx3'

356863

Institutional Source

Beutler Lab

Gene Symbol

Lhx3

Ensembl Gene

ENSMUSG00000026934

Gene Name

LIM homeobox protein 3

Synonyms

Lim3, mLim-3, P-LIM

MMRRC Submission

042402-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4761 (G1)

Quality Score

108

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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,820,165 (GRCm39)	D195G	possibly damaging	Het
Abcc8	G	A	7: 45,762,499 (GRCm39)	R1221C	probably damaging	Het
Adra1a	T	A	14: 66,964,880 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,497,010 (GRCm39)	M98L	probably benign	Het
Alpk3	A	G	7: 80,753,916 (GRCm39)	Q1632R	probably damaging	Het
Arhgap24	G	T	5: 102,812,080 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,308,504 (GRCm39)	*40W	probably null	Het
Bdkrb2	A	T	12: 105,554,537 (GRCm39)	M17L	probably benign	Het
C4bp	T	C	1: 130,581,158 (GRCm39)	K117R	possibly damaging	Het
Cacng3	A	T	7: 122,367,887 (GRCm39)	T256S	probably benign	Het
Cep63	T	C	9: 102,464,240 (GRCm39)		probably benign	Het
Ces2b	T	A	8: 105,563,193 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,564,592 (GRCm39)	D1696V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcst1	A	T	3: 89,264,860 (GRCm39)	M296K	possibly damaging	Het
Ehbp1l1	G	A	19: 5,769,875 (GRCm39)	P476L	possibly damaging	Het
Enpp1	A	G	10: 24,517,849 (GRCm39)	V858A	possibly damaging	Het
Ermp1	T	A	19: 29,623,656 (GRCm39)	E55D	probably benign	Het
Eya1	G	A	1: 14,373,045 (GRCm39)	L25F	probably damaging	Het
Foxn2	T	A	17: 88,770,136 (GRCm39)		probably null	Het
Gabrb3	A	T	7: 57,415,250 (GRCm39)	T107S	probably damaging	Het
Gm26678	A	T	3: 54,540,564 (GRCm39)		noncoding transcript	Het
Gm7897	G	T	1: 173,657,536 (GRCm39)		noncoding transcript	Het
Gm9789	A	T	16: 88,954,915 (GRCm39)	Y8F	unknown	Het
Gsta3	A	T	1: 21,330,381 (GRCm39)	T78S	probably benign	Het
H2-Ab1	A	G	17: 34,486,474 (GRCm39)	N178D	probably damaging	Het
Herc6	G	A	6: 57,639,885 (GRCm39)	V1000I	probably benign	Het
Hrnr	A	C	3: 93,230,062 (GRCm39)	K100T	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Iqca1l	A	G	5: 24,756,981 (GRCm39)	V232A	probably benign	Het
Kmt2a	C	A	9: 44,760,421 (GRCm39)	R509L	probably damaging	Het
Lefty1	T	A	1: 180,765,190 (GRCm39)	C253S	probably benign	Het
Mfsd9	T	C	1: 40,813,635 (GRCm39)	K227E	possibly damaging	Het
Mrps2	C	G	2: 28,359,946 (GRCm39)	H268D	probably benign	Het
Mrps27	T	A	13: 99,548,739 (GRCm39)	S292T	probably benign	Het
Ncaph	T	C	2: 126,948,036 (GRCm39)	D683G	probably benign	Het
Nlrc3	A	T	16: 3,781,514 (GRCm39)	S632T	probably damaging	Het
Nsun6	T	C	2: 15,034,872 (GRCm39)	T198A	possibly damaging	Het
Oasl2	C	T	5: 115,037,836 (GRCm39)	H78Y	probably benign	Het
Or8b54	T	C	9: 38,687,133 (GRCm39)	V194A	probably benign	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdgfrb	C	A	18: 61,212,772 (GRCm39)	S892Y	probably damaging	Het
Phf8-ps	A	T	17: 33,286,172 (GRCm39)	V210D	probably damaging	Het
Por	T	G	5: 135,754,784 (GRCm39)		probably benign	Het
Ppp2r5e	A	T	12: 75,640,035 (GRCm39)	V22D	possibly damaging	Het
Prcp	A	G	7: 92,566,933 (GRCm39)		probably null	Het
Ptchd3	A	T	11: 121,727,224 (GRCm39)	N366I	possibly damaging	Het
Rprd1b	A	G	2: 157,889,890 (GRCm39)	E4G	probably damaging	Het
Semp2l1	A	T	1: 32,585,588 (GRCm39)	S107R	possibly damaging	Het
Serpinb6d	C	A	13: 33,855,250 (GRCm39)	S308Y	probably damaging	Het
Slc12a7	T	C	13: 73,961,708 (GRCm39)	V1026A	probably benign	Het
Slc17a7	G	A	7: 44,820,408 (GRCm39)	V313I	probably benign	Het
Slc35c1	T	A	2: 92,289,168 (GRCm39)	M113L	probably damaging	Het
Smgc	A	G	15: 91,729,717 (GRCm39)	T178A	possibly damaging	Het
Spef2	A	T	15: 9,653,040 (GRCm39)	W914R	probably damaging	Het
Srfbp1	C	A	18: 52,621,638 (GRCm39)	P233Q	probably damaging	Het
Swt1	A	C	1: 151,276,853 (GRCm39)	C508G	probably benign	Het
Tex22	T	C	12: 113,052,386 (GRCm39)	V148A	possibly damaging	Het
Tle7	A	T	8: 110,836,753 (GRCm39)	D213V	probably damaging	Het
Tpd52	G	A	3: 9,028,933 (GRCm39)	P37L	probably damaging	Het
Utp25	T	C	1: 192,796,230 (GRCm39)	Y145C	probably damaging	Het
Vmn1r197	A	T	13: 22,512,174 (GRCm39)	M32L	probably benign	Het
Vmn2r100	T	C	17: 19,741,630 (GRCm39)	F114S	possibly damaging	Het
Xdh	T	A	17: 74,217,262 (GRCm39)	I669F	possibly damaging	Het
Zfp940	G	A	7: 29,545,578 (GRCm39)	R110C	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
R5102:Lhx3	UTSW	2	26,091,435 (GRCm39)	frame shift	probably null
R5105: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'- AAGGCTCAAGTTGGTGTCTG -3'
(R):5'- AGTGCTGAAGAGACTGTCCCTG -3'

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

Posted On

2015-11-11