Incidental Mutation 'IGL02074:L1cam'
| ID |
185948 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
L1cam
|
| Ensembl Gene |
ENSMUSG00000031391 |
| Gene Name |
L1 cell adhesion molecule |
| Synonyms |
L1-NCAM, NCAM-L1, L1, CD171 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
IGL02074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
72897384-72924843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72906619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 275
(W275R)
|
| 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: W270R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068135
Gene: ENSMUSG00000031391
AA Change: W270R
| Domain | Start | End | E-Value | Type |
|---|
|
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: W275R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099935
Gene: ENSMUSG00000031391
AA Change: W275R
| Domain | Start | End | E-Value | Type |
|---|
|
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: W275R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110073
Gene: ENSMUSG00000031391
AA Change: W275R
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000155246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148250
|
| SMART Domains |
Protein: ENSMUSP00000114609
Gene: ENSMUSG00000031391
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
2 |
67 |
3.18e0 |
SMART |
|
Pfam:fn3
|
137 |
190 |
6.5e-8 |
PFAM |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,184,176 (GRCm39) |
S974G |
probably benign |
Het |
| Abi2 |
T |
C |
1: 60,486,466 (GRCm39) |
V209A |
probably damaging |
Het |
| Ankrd33b |
C |
A |
15: 31,297,807 (GRCm39) |
V317F |
probably damaging |
Het |
| Arcn1 |
A |
G |
9: 44,670,309 (GRCm39) |
C106R |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,296,980 (GRCm39) |
H695R |
probably benign |
Het |
| Bag4 |
G |
T |
8: 26,259,383 (GRCm39) |
T272K |
possibly damaging |
Het |
| Cnot6 |
T |
C |
11: 49,580,070 (GRCm39) |
H74R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,585,051 (GRCm39) |
A397D |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,742,580 (GRCm39) |
Q91K |
probably benign |
Het |
| Dixdc1 |
C |
T |
9: 50,613,317 (GRCm39) |
V212M |
probably benign |
Het |
| Dnaaf11 |
T |
C |
15: 66,361,339 (GRCm39) |
N54S |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,873,349 (GRCm39) |
E1137G |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,295,318 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,963,297 (GRCm39) |
I1132F |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,188,514 (GRCm39) |
V432I |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,265 (GRCm39) |
S2449G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,737,192 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,722,579 (GRCm39) |
V660A |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,673,463 (GRCm39) |
D633G |
possibly damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,497 (GRCm39) |
M140K |
probably damaging |
Het |
| Or55b3 |
G |
T |
7: 102,126,679 (GRCm39) |
H133N |
probably benign |
Het |
| Or7g33 |
A |
T |
9: 19,449,148 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or8d23 |
A |
T |
9: 38,841,979 (GRCm39) |
T171S |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,096,775 (GRCm39) |
T146A |
possibly damaging |
Het |
| Rnf123 |
A |
T |
9: 107,944,088 (GRCm39) |
L508Q |
probably damaging |
Het |
| Scaf4 |
G |
T |
16: 90,039,808 (GRCm39) |
P812T |
unknown |
Het |
| Slc45a2 |
A |
G |
15: 11,000,903 (GRCm39) |
M1V |
probably null |
Het |
| Ttr |
T |
C |
18: 20,799,580 (GRCm39) |
V46A |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,113,206 (GRCm39) |
K216R |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,603 (GRCm39) |
I251V |
probably benign |
Het |
| Xlr |
A |
T |
X: 52,798,101 (GRCm39) |
|
probably benign |
Het |
| Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
|
| Other mutations in L1cam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:L1cam
|
APN |
X |
72,908,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03059:L1cam
|
APN |
X |
72,910,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03351:L1cam
|
APN |
X |
72,906,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0079:L1cam
|
UTSW |
X |
72,913,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2146:L1cam
|
UTSW |
X |
72,904,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:L1cam
|
UTSW |
X |
72,904,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2231:L1cam
|
UTSW |
X |
72,904,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2232:L1cam
|
UTSW |
X |
72,904,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation