Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Lhx3'

392397

Institutional Source

Beutler Lab

Gene Symbol

Lhx3

Ensembl Gene

ENSMUSG00000026934

Gene Name

LIM homeobox protein 3

Synonyms

Lim3, mLim-3, P-LIM

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5102 (G1)

Quality Score

111

Status

Not 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: 98.2%
10x: 96.0%
20x: 91.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	T	1: 58,279,937 (GRCm39)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,469,592 (GRCm39)		probably null	Het
Arhgap45	C	T	10: 79,857,262 (GRCm39)	P254S	probably benign	Het
Arl4c	T	C	1: 88,629,322 (GRCm39)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,242,875 (GRCm39)	T1142A	probably benign	Het
BC035044	T	C	6: 128,861,949 (GRCm39)		probably benign	Het
Bmp4	T	C	14: 46,621,458 (GRCm39)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,537,912 (GRCm39)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,971 (GRCm39)	T401S	probably benign	Het
Cmklr2	A	G	1: 63,222,326 (GRCm39)	V303A	probably damaging	Het
Cps1	A	T	1: 67,245,952 (GRCm39)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,873,832 (GRCm39)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,460,126 (GRCm39)	S173P	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,793 (GRCm39)	I319F	unknown	Het
Dchs1	A	T	7: 105,421,384 (GRCm39)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,476,640 (GRCm39)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm39)	D109N	possibly damaging	Het
Dner	A	T	1: 84,383,691 (GRCm39)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,186,282 (GRCm39)	S97P	probably benign	Het
Fam53b	G	A	7: 132,317,684 (GRCm39)	R60*	probably null	Het
Fmo3	T	G	1: 162,791,546 (GRCm39)	K244Q	probably benign	Het
Golim4	A	G	3: 75,810,579 (GRCm39)	I192T	possibly damaging	Het
Gprin1	T	C	13: 54,887,576 (GRCm39)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,310,626 (GRCm39)	V443D	probably damaging	Het
Hmgcs2	T	C	3: 98,187,786 (GRCm39)		probably benign	Het
Ide	T	A	19: 37,292,383 (GRCm39)	I271L	unknown	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif14	A	G	1: 136,444,141 (GRCm39)	I1378V	probably benign	Het
Lhx6	T	C	2: 35,984,222 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,319,502 (GRCm39)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,709,304 (GRCm39)	K142R	probably damaging	Het
Macroh2a1	C	G	13: 56,243,936 (GRCm39)		probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Mtrfr	A	G	5: 124,476,954 (GRCm39)	N83D	probably damaging	Het
Nacad	T	A	11: 6,548,528 (GRCm39)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,535,539 (GRCm39)	I275T	possibly damaging	Het
Neb	A	C	2: 52,116,582 (GRCm39)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,712,934 (GRCm39)	A83V	probably damaging	Het
Nos3	A	G	5: 24,576,625 (GRCm39)	D418G	probably damaging	Het
Or12e7	A	T	2: 87,288,138 (GRCm39)	M210L	probably benign	Het
Or1n1b	T	A	2: 36,780,056 (GRCm39)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,604,313 (GRCm39)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,701,220 (GRCm39)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,637,771 (GRCm39)	I191T	possibly damaging	Het
Pramel18	T	C	4: 101,766,436 (GRCm39)	F40S	probably damaging	Het
Rab11fip1	T	C	8: 27,646,402 (GRCm39)	K225E	probably damaging	Het
Rara	A	T	11: 98,857,185 (GRCm39)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,126,754 (GRCm39)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,070,408 (GRCm39)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,393,482 (GRCm39)	T106A	probably damaging	Het
Srcap	G	A	7: 127,129,795 (GRCm39)	G539D	probably damaging	Het
Stab1	C	T	14: 30,869,974 (GRCm39)		probably null	Het
Zfp267	G	A	3: 36,216,814 (GRCm39)	C55Y	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
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
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'- CAAGGCTCAAGTTGGTGTCTG -3'
(R):5'- AGTGCTGAAGAGACTGTCCC -3'

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

Posted On

2016-06-15