Incidental Mutation 'IGL03351:L1cam'
ID 419729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L1cam
Ensembl Gene ENSMUSG00000031391
Gene Name L1 cell adhesion molecule
Synonyms CD171, L1-NCAM, NCAM-L1, L1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock # IGL03351
Quality Score
Status
Chromosome X
Chromosomal Location 73853778-73896105 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73863028 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 270 (T270A)
Ref Sequence ENSEMBL: ENSMUSP00000110073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066576] [ENSMUST00000102871] [ENSMUST00000114430] [ENSMUST00000146790]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066576
AA Change: T265A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068135
Gene: ENSMUSG00000031391
AA Change: T265A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 43 115 3.59e-5 SMART
IG 137 224 2.66e-8 SMART
IGc2 249 313 1.25e-22 SMART
IGc2 339 405 1.06e-7 SMART
IGc2 433 498 6.55e-8 SMART
IGc2 524 592 1.19e-5 SMART
FN3 606 692 3.76e-6 SMART
FN3 709 791 1.31e-5 SMART
FN3 807 898 5.78e-7 SMART
FN3 912 996 1.51e-10 SMART
Blast:FN3 1010 1093 8e-36 BLAST
transmembrane domain 1118 1140 N/A INTRINSIC
Pfam:Bravo_FIGEY 1141 1228 6.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102871
AA Change: T270A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099935
Gene: ENSMUSG00000031391
AA Change: T270A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 48 120 3.59e-5 SMART
IG 142 229 2.66e-8 SMART
IGc2 254 318 1.25e-22 SMART
IGc2 344 410 1.06e-7 SMART
IGc2 438 503 6.55e-8 SMART
IGc2 529 597 1.19e-5 SMART
FN3 611 697 3.76e-6 SMART
FN3 714 796 1.31e-5 SMART
FN3 812 903 5.78e-7 SMART
FN3 917 1001 1.51e-10 SMART
Blast:FN3 1015 1098 9e-36 BLAST
transmembrane domain 1123 1145 N/A INTRINSIC
Pfam:Bravo_FIGEY 1146 1235 8.2e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114430
AA Change: T270A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110073
Gene: ENSMUSG00000031391
AA Change: T270A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 48 120 3.59e-5 SMART
IG 142 229 2.66e-8 SMART
IGc2 254 318 1.25e-22 SMART
IGc2 344 410 1.06e-7 SMART
IGc2 438 503 6.55e-8 SMART
IGc2 529 597 1.19e-5 SMART
FN3 611 697 3.76e-6 SMART
FN3 714 796 1.31e-5 SMART
FN3 812 903 5.78e-7 SMART
FN3 917 1001 1.51e-10 SMART
Blast:FN3 1015 1098 9e-36 BLAST
transmembrane domain 1123 1145 N/A INTRINSIC
Pfam:Bravo_FIGEY 1146 1233 6.7e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141221
Predicted Effect probably benign
Transcript: ENSMUST00000146790
SMART Domains Protein: ENSMUSP00000121797
Gene: ENSMUSG00000031391

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Ig_2 34 82 3.8e-7 PFAM
Pfam:I-set 35 84 1.7e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148250
SMART Domains Protein: ENSMUSP00000114609
Gene: ENSMUSG00000031391

DomainStartEndE-ValueType
IG 2 67 3.18e0 SMART
Pfam:fn3 137 190 6.5e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155246
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous null mutants have reduced size, lessened sensitivity to touch and pain, weakness and incoordination of hind-legs, reduced corticospinal tract, impaired guidance of retinal and corticospinal axons, and in some cases, enlarged lateral ventricles. A hypomorphic line shows background effects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C probably damaging Het
Other mutations in L1cam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:L1cam APN X 73864438 missense probably damaging 1.00
IGL02074:L1cam APN X 73863013 missense probably damaging 1.00
IGL03059:L1cam APN X 73867024 missense probably benign 0.01
R0079:L1cam UTSW X 73869758 missense probably damaging 0.99
R2146:L1cam UTSW X 73861141 missense probably damaging 1.00
R2148:L1cam UTSW X 73861141 missense probably damaging 1.00
R2231:L1cam UTSW X 73861341 missense possibly damaging 0.95
R2232:L1cam UTSW X 73861341 missense possibly damaging 0.95
Posted On 2016-08-02