Incidental Mutation 'IGL01712:L1cam'
ID104827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L1cam
Ensembl Gene ENSMUSG00000031391
Gene NameL1 cell adhesion molecule
SynonymsCD171, L1-NCAM, NCAM-L1, L1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #IGL01712
Quality Score
Status
ChromosomeX
Chromosomal Location73853778-73896105 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73864438 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 169 (Y169C)
Ref Sequence ENSEMBL: ENSMUSP00000110073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066576] [ENSMUST00000102871] [ENSMUST00000114430] [ENSMUST00000146790]
Predicted Effect probably damaging
Transcript: ENSMUST00000066576
AA Change: Y164C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068135
Gene: ENSMUSG00000031391
AA Change: Y164C

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: Y169C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099935
Gene: ENSMUSG00000031391
AA Change: Y169C

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: Y169C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110073
Gene: ENSMUSG00000031391
AA Change: Y169C

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: 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T116A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in L1cam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02074:L1cam APN X 73863013 missense probably damaging 1.00
IGL03059:L1cam APN X 73867024 missense probably benign 0.01
IGL03351:L1cam APN X 73863028 missense probably damaging 1.00
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 On2014-01-21