Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Lhx3'

213409

Institutional Source

Beutler Lab

Gene Symbol

Lhx3

Ensembl Gene

ENSMUSG00000026934

Gene Name

LIM homeobox protein 3

Synonyms

Lim3, mLim-3, P-LIM

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26090224-26098261 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 26092200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 230 (Y230*)

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
AA Change: Y232*

SMART Domains

Protein: ENSMUSP00000028302
Gene: ENSMUSG00000026934
AA Change: Y232*

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
AA Change: Y230*

SMART Domains

Protein: ENSMUSP00000056822
Gene: ENSMUSG00000026934
AA Change: Y230*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184787

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

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 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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	possibly damaging	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
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
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'- TGAGTGGATCATCCCCAGAG -3'
(R):5'- GAAGAGCGCCTACAACACTTCG -3'

Sequencing Primer
(F):5'- GATCATCCCCAGAGAGGCAG -3'
(R):5'- CCTGGACATGCGAGTGGTG -3'

Posted On

2014-07-14