Incidental Mutation 'IGL02633:Lmo4'
ID 301401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmo4
Ensembl Gene ENSMUSG00000028266
Gene Name LIM domain only 4
Synonyms A730077C12Rik, Etohi4, Crp3
Accession Numbers
Essential gene? Not available question?
Stock # IGL02633
Quality Score
Status
Chromosome 3
Chromosomal Location 143894291-143910981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143899683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 155 (S155G)
Ref Sequence ENSEMBL: ENSMUSP00000113513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120539] [ENSMUST00000121112] [ENSMUST00000121796] [ENSMUST00000196264] [ENSMUST00000197652]
AlphaFold P61969
Predicted Effect probably benign
Transcript: ENSMUST00000120539
AA Change: S155G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113840
Gene: ENSMUSG00000028266
AA Change: S155G

DomainStartEndE-ValueType
LIM 22 76 3.99e-14 SMART
LIM 86 140 1.58e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121112
AA Change: S155G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113865
Gene: ENSMUSG00000028266
AA Change: S155G

DomainStartEndE-ValueType
LIM 22 76 3.99e-14 SMART
LIM 86 140 1.58e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121796
AA Change: S155G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113513
Gene: ENSMUSG00000028266
AA Change: S155G

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
SMART Domains Protein: ENSMUSP00000142551
Gene: ENSMUSG00000028266

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Lmo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5925:Lmo4 UTSW 3 143,900,252 (GRCm39) missense probably benign 0.36
RF001:Lmo4 UTSW 3 143,907,623 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16