Incidental Mutation 'R3434:Lhx4'
ID266324
Institutional Source Beutler Lab
Gene Symbol Lhx4
Ensembl Gene ENSMUSG00000026468
Gene NameLIM homeobox protein 4
SynonymsGsh-4, Gsh4, A330062J17Rik
MMRRC Submission 040652-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3434 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location155698031-155751684 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155702401 bp
ZygosityHeterozygous
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]
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: 24,289,537 A1008V probably damaging Het
Adora3 A G 3: 105,904,915 K39R probably benign Het
Ankib1 A G 5: 3,692,760 V1085A probably damaging Het
Atp7a G A X: 106,094,857 R563K probably benign Het
Azin1 T C 15: 38,493,576 I268V probably benign Het
Carm1 T C 9: 21,569,473 F81S probably damaging Het
Ccnjl A G 11: 43,579,861 Y152C probably damaging Het
Chrna3 T A 9: 55,024,326 I61F possibly damaging Het
Clca3a2 G A 3: 144,808,761 probably benign Het
Clstn2 T A 9: 97,454,715 D903V probably benign Het
Dpysl3 C T 18: 43,361,061 V70I probably benign Het
Drg2 A T 11: 60,461,392 K180* probably null Het
Dync2h1 A C 9: 7,011,236 H3659Q probably benign Het
Dysf A T 6: 84,070,888 Y349F probably benign Het
Epb41l4b T C 4: 57,040,865 N533D probably benign Het
Fam47e T A 5: 92,585,362 V152D probably damaging Het
Fasn G A 11: 120,822,773 A24V probably damaging Het
Fhl4 T C 10: 85,098,444 T158A probably benign Het
Fnbp1l C T 3: 122,546,306 R499Q probably damaging Het
Hdlbp A T 1: 93,428,161 M358K probably benign Het
Ift74 A G 4: 94,621,852 probably null Het
Mast2 A T 4: 116,308,095 S1314T probably benign Het
Mast4 A G 13: 102,787,379 I508T probably damaging Het
Mdn1 T C 4: 32,733,726 probably null Het
Mrps23 A G 11: 88,210,114 K44E probably damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Mup6 G T 4: 60,004,116 probably null Het
Notch3 A T 17: 32,158,618 D161E possibly damaging Het
Olfr1131 T C 2: 87,629,074 F204L probably benign Het
Olfr1200 T C 2: 88,768,069 D82G probably damaging Het
Olfr695 A T 7: 106,873,769 Y159N probably benign Het
P2rx4 T A 5: 122,725,070 I202K probably damaging Het
Phykpl A G 11: 51,598,655 T363A probably benign Het
Pitpnm1 G A 19: 4,112,234 A1047T probably damaging Het
Ppat A G 5: 76,918,065 I402T probably damaging Het
Rpgr A G X: 10,176,602 S656P probably benign Het
Rsbn1l T C 5: 20,905,930 probably benign Het
Sacs A G 14: 61,212,303 K3933E probably damaging Het
Scn7a T C 2: 66,675,503 I1681V probably benign Het
Sel1l3 T C 5: 53,117,090 D1016G probably benign Het
Sf3a3 C A 4: 124,725,077 T277N possibly damaging Het
Slc35a5 A G 16: 45,144,033 I279T probably benign Het
Slc39a10 T C 1: 46,835,717 T142A probably benign Het
Tle3 T A 9: 61,414,094 probably null Het
Tmem117 T C 15: 95,094,692 I411T probably damaging Het
Ttn T C 2: 76,868,377 T5A possibly damaging Het
Tubgcp3 T C 8: 12,658,381 probably null Het
Ush2a C T 1: 188,733,758 P2841L probably damaging Het
Vmn1r209 A T 13: 22,806,097 M141K probably benign Het
Vmn2r91 A T 17: 18,110,108 probably benign Het
Other mutations in Lhx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02366:Lhx4 APN 1 155705188 missense possibly damaging 0.90
IGL02516:Lhx4 APN 1 155702257 missense probably damaging 1.00
IGL02806:Lhx4 APN 1 155702229 missense probably benign 0.22
IGL03104:Lhx4 APN 1 155705221 missense probably damaging 1.00
R3438:Lhx4 UTSW 1 155702484 missense probably benign 0.10
R4369:Lhx4 UTSW 1 155704814 missense probably benign 0.01
R4392:Lhx4 UTSW 1 155710134 missense probably damaging 1.00
R4873:Lhx4 UTSW 1 155705267 missense possibly damaging 0.90
R4875:Lhx4 UTSW 1 155705267 missense possibly damaging 0.90
R5937:Lhx4 UTSW 1 155710277 missense probably damaging 1.00
R6329:Lhx4 UTSW 1 155702554 missense probably benign 0.00
R6694:Lhx4 UTSW 1 155704710 missense probably benign 0.05
R7212:Lhx4 UTSW 1 155724953 missense probably benign 0.01
R7418:Lhx4 UTSW 1 155710259 missense probably damaging 1.00
R7653:Lhx4 UTSW 1 155704871 missense probably damaging 1.00
R7900:Lhx4 UTSW 1 155741963 intron probably benign
R7983:Lhx4 UTSW 1 155741963 intron probably benign
Z1176:Lhx4 UTSW 1 155705255 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 On2015-02-18