Incidental Mutation 'R5102:Lhx3'
ID 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 2
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

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

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

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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2016-06-15