Incidental Mutation 'R3434:Lhx4'
ID 266324
Institutional Source Beutler Lab
Gene Symbol Lhx4
Ensembl Gene ENSMUSG00000026468
Gene Name LIM homeobox protein 4
Synonyms Gsh4, Gsh-4, A330062J17Rik
MMRRC Submission 040652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3434 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 155573777-155627430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155578147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 332 (Y332H)
Ref Sequence ENSEMBL: ENSMUSP00000027740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027740] [ENSMUST00000195275]
AlphaFold P53776
PDB Structure The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027740
AA Change: Y332H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: Y332H

DomainStartEndE-ValueType
LIM 29 80 3.39e-17 SMART
LIM 88 143 2.76e-17 SMART
HOX 157 219 5.79e-23 SMART
low complexity region 306 325 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195275
SMART Domains Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468

DomainStartEndE-ValueType
LIM 27 82 1.3e-19 SMART
HOX 96 158 2.8e-25 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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 protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mutations in this gene result in abnormal lung development and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,508,511 (GRCm39) A1008V probably damaging Het
Adora3 A G 3: 105,812,231 (GRCm39) K39R probably benign Het
Ankib1 A G 5: 3,742,760 (GRCm39) V1085A probably damaging Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Azin1 T C 15: 38,493,820 (GRCm39) I268V probably benign Het
Carm1 T C 9: 21,480,769 (GRCm39) F81S probably damaging Het
Ccnjl A G 11: 43,470,688 (GRCm39) Y152C probably damaging Het
Chrna3 T A 9: 54,931,610 (GRCm39) I61F possibly damaging Het
Clca3a2 G A 3: 144,514,522 (GRCm39) probably benign Het
Clstn2 T A 9: 97,336,768 (GRCm39) D903V probably benign Het
Dpysl3 C T 18: 43,494,126 (GRCm39) V70I probably benign Het
Drg2 A T 11: 60,352,218 (GRCm39) K180* probably null Het
Dync2h1 A C 9: 7,011,236 (GRCm39) H3659Q probably benign Het
Dysf A T 6: 84,047,870 (GRCm39) Y349F probably benign Het
Epb41l4b T C 4: 57,040,865 (GRCm39) N533D probably benign Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Fasn G A 11: 120,713,599 (GRCm39) A24V probably damaging Het
Fhl4 T C 10: 84,934,308 (GRCm39) T158A probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Hdlbp A T 1: 93,355,883 (GRCm39) M358K probably benign Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,940 (GRCm39) K44E probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or2ag13 A T 7: 106,472,976 (GRCm39) Y159N probably benign Het
Or4a67 T C 2: 88,598,413 (GRCm39) D82G probably damaging Het
Or5w11 T C 2: 87,459,418 (GRCm39) F204L probably benign Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Phykpl A G 11: 51,489,482 (GRCm39) T363A probably benign Het
Pitpnm1 G A 19: 4,162,234 (GRCm39) A1047T probably damaging Het
Ppat A G 5: 77,065,912 (GRCm39) I402T probably damaging Het
Rpgr A G X: 10,042,841 (GRCm39) S656P probably benign Het
Rsbn1l T C 5: 21,110,928 (GRCm39) probably benign Het
Sacs A G 14: 61,449,752 (GRCm39) K3933E probably damaging Het
Scn7a T C 2: 66,505,847 (GRCm39) I1681V probably benign Het
Sel1l3 T C 5: 53,274,432 (GRCm39) D1016G probably benign Het
Sf3a3 C A 4: 124,618,870 (GRCm39) T277N possibly damaging Het
Slc35a5 A G 16: 44,964,396 (GRCm39) I279T probably benign Het
Slc39a10 T C 1: 46,874,877 (GRCm39) T142A probably benign Het
Tle3 T A 9: 61,321,376 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Ttn T C 2: 76,698,721 (GRCm39) T5A possibly damaging Het
Tubgcp3 T C 8: 12,708,381 (GRCm39) probably null Het
Ush2a C T 1: 188,465,955 (GRCm39) P2841L probably damaging Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Vmn2r91 A T 17: 18,330,370 (GRCm39) probably benign Het
Other mutations in Lhx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02366:Lhx4 APN 1 155,580,934 (GRCm39) missense possibly damaging 0.90
IGL02516:Lhx4 APN 1 155,578,003 (GRCm39) missense probably damaging 1.00
IGL02806:Lhx4 APN 1 155,577,975 (GRCm39) missense probably benign 0.22
IGL03104:Lhx4 APN 1 155,580,967 (GRCm39) missense probably damaging 1.00
R3438:Lhx4 UTSW 1 155,578,230 (GRCm39) missense probably benign 0.10
R4369:Lhx4 UTSW 1 155,580,560 (GRCm39) missense probably benign 0.01
R4392:Lhx4 UTSW 1 155,585,880 (GRCm39) missense probably damaging 1.00
R4873:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R4875:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R5937:Lhx4 UTSW 1 155,586,023 (GRCm39) missense probably damaging 1.00
R6329:Lhx4 UTSW 1 155,578,300 (GRCm39) missense probably benign 0.00
R6694:Lhx4 UTSW 1 155,580,456 (GRCm39) missense probably benign 0.05
R7212:Lhx4 UTSW 1 155,600,699 (GRCm39) missense probably benign 0.01
R7418:Lhx4 UTSW 1 155,586,005 (GRCm39) missense probably damaging 1.00
R7653:Lhx4 UTSW 1 155,580,617 (GRCm39) missense probably damaging 1.00
R7900:Lhx4 UTSW 1 155,617,709 (GRCm39) intron probably benign
R8210:Lhx4 UTSW 1 155,586,214 (GRCm39) splice site probably null
R8510:Lhx4 UTSW 1 155,578,047 (GRCm39) missense probably damaging 1.00
R8889:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R8892:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R9300:Lhx4 UTSW 1 155,580,956 (GRCm39) missense probably damaging 1.00
R9322:Lhx4 UTSW 1 155,578,353 (GRCm39) missense probably benign 0.00
R9532:Lhx4 UTSW 1 155,586,024 (GRCm39) missense probably damaging 1.00
Z1176:Lhx4 UTSW 1 155,581,001 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGTCCATCTCATCGAGCC -3'
(R):5'- TCCGTTCTTTTGTCCACAGAAGATC -3'

Sequencing Primer
(F):5'- GTCCATCTCATCGAGCCAAGAGG -3'
(R):5'- GATCAAATACTCTCAGAGCTTGGC -3'
Posted On 2015-02-18