Incidental Mutation 'R5925:Lmo4'
ID 461779
Institutional Source Beutler Lab
Gene Symbol Lmo4
Ensembl Gene ENSMUSG00000028266
Gene Name LIM domain only 4
Synonyms A730077C12Rik, Etohi4, Crp3
MMRRC Submission 044120-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5925 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 143894291-143910981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143900252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 83 (N83K)
Ref Sequence ENSEMBL: ENSMUSP00000142551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120539] [ENSMUST00000121112] [ENSMUST00000121796] [ENSMUST00000196264] [ENSMUST00000197652]
AlphaFold P61969
Predicted Effect probably benign
Transcript: ENSMUST00000120539
AA Change: N83K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113840
Gene: ENSMUSG00000028266
AA Change: N83K

DomainStartEndE-ValueType
LIM 22 76 3.99e-14 SMART
LIM 86 140 1.58e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121112
AA Change: N83K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113865
Gene: ENSMUSG00000028266
AA Change: N83K

DomainStartEndE-ValueType
LIM 22 76 3.99e-14 SMART
LIM 86 140 1.58e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121796
AA Change: N83K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113513
Gene: ENSMUSG00000028266
AA Change: N83K

DomainStartEndE-ValueType
LIM 22 76 3.99e-14 SMART
LIM 86 140 1.58e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148128
Predicted Effect probably benign
Transcript: ENSMUST00000196264
SMART Domains Protein: ENSMUSP00000143035
Gene: ENSMUSG00000028266

DomainStartEndE-ValueType
LIM 22 76 1.9e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197652
AA Change: N83K

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142551
Gene: ENSMUSG00000028266
AA Change: N83K

DomainStartEndE-ValueType
LIM 22 76 1.9e-16 SMART
LIM 86 132 2.2e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198564
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous null mice die embryonically and exhibit a failure of neural tube closure and exencephaly, which is associated with abnormal patterns of cell proliferation and with high levels of apoptosis within the neuroepithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik C T 5: 66,147,735 (GRCm39) W16* probably null Het
Abca8a T C 11: 109,948,049 (GRCm39) D985G probably damaging Het
Afp T A 5: 90,645,147 (GRCm39) C188S probably damaging Het
Ank2 A C 3: 126,726,612 (GRCm39) L894R probably benign Het
Antxr1 A G 6: 87,289,344 (GRCm39) I60T probably damaging Het
Bltp2 T C 11: 78,175,064 (GRCm39) V1733A probably benign Het
Ccdc187 A G 2: 26,183,593 (GRCm39) S136P probably benign Het
Cep95 T C 11: 106,703,227 (GRCm39) S393P probably benign Het
Cyfip2 T C 11: 46,098,263 (GRCm39) Y1053C probably damaging Het
Diaph1 A G 18: 38,024,988 (GRCm39) V491A unknown Het
Dync2i1 A T 12: 116,197,014 (GRCm39) F448I possibly damaging Het
Ehf T C 2: 103,097,338 (GRCm39) probably null Het
Eif2b5 C T 16: 20,326,874 (GRCm39) H99Y probably benign Het
Exosc10 C A 4: 148,657,819 (GRCm39) T655K probably benign Het
Flg A T 3: 93,186,706 (GRCm39) I53F probably damaging Het
Hc T A 2: 34,920,462 (GRCm39) D628V possibly damaging Het
Lrp4 A T 2: 91,342,029 (GRCm39) T1881S probably benign Het
Malt1 T A 18: 65,564,439 (GRCm39) L66Q possibly damaging Het
Map3k3 T C 11: 106,040,376 (GRCm39) S314P probably benign Het
Mpzl3 G T 9: 44,973,412 (GRCm39) K50N probably damaging Het
Nbeal2 G T 9: 110,458,948 (GRCm39) Q1992K probably benign Het
Nlrp14 T A 7: 106,785,860 (GRCm39) N645K probably benign Het
Or2g1 T C 17: 38,106,482 (GRCm39) I49T probably benign Het
Or6c76b A G 10: 129,692,744 (GRCm39) D119G probably damaging Het
Pcdha1 T A 18: 37,063,724 (GRCm39) D129E probably damaging Het
Prb1a A G 6: 132,187,475 (GRCm39) L2P unknown Het
Rhbdf1 A G 11: 32,162,906 (GRCm39) Y454H probably benign Het
Satb2 C T 1: 56,836,097 (GRCm39) A565T possibly damaging Het
Sh3pxd2a A T 19: 47,256,051 (GRCm39) L889Q probably damaging Het
Sis T C 3: 72,828,713 (GRCm39) probably null Het
Slc35e2 T C 4: 155,696,084 (GRCm39) V157A probably damaging Het
Slc35f3 T C 8: 127,115,946 (GRCm39) V291A probably benign Het
Snph T C 2: 151,436,151 (GRCm39) D190G probably damaging Het
Tpd52l1 T C 10: 31,208,943 (GRCm39) H170R probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Trip12 G A 1: 84,726,974 (GRCm39) Q9* probably null Het
Ttn C T 2: 76,632,592 (GRCm39) C12408Y probably damaging Het
Ttn T C 2: 76,639,355 (GRCm39) D13806G probably damaging Het
Unc79 G C 12: 103,091,989 (GRCm39) probably null Het
Vmn2r81 T C 10: 79,083,637 (GRCm39) S4P probably damaging Het
Zfp37 G A 4: 62,109,450 (GRCm39) T576I possibly damaging Het
Zfp39 A T 11: 58,782,099 (GRCm39) L221Q possibly damaging Het
Zgrf1 A G 3: 127,366,853 (GRCm39) H744R possibly damaging Het
Other mutations in Lmo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Lmo4 APN 3 143,899,683 (GRCm39) missense probably benign
RF001:Lmo4 UTSW 3 143,907,623 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGAAGACAGGACTGGTACCG -3'
(R):5'- TTCCTCTGATGAAGGCAGAAG -3'

Sequencing Primer
(F):5'- GTACCGAGGAGAAATGTTCTTTC -3'
(R):5'- AGCTGGCTTTCCCTAAAAGG -3'
Posted On 2017-02-28