Incidental Mutation 'IGL03059:L1cam'
| ID |
409364 |
| 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 # |
IGL03059
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
72897384-72924843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72910630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 30
(H30L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066576]
[ENSMUST00000102871]
[ENSMUST00000114430]
[ENSMUST00000146790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066576
|
| SMART Domains |
Protein: ENSMUSP00000068135
Gene: ENSMUSG00000031391
| 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 benign
Transcript: ENSMUST00000102871
AA Change: H30L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099935
Gene: ENSMUSG00000031391
AA Change: H30L
| 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 benign
Transcript: ENSMUST00000114430
AA Change: H30L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110073
Gene: ENSMUSG00000031391
AA Change: H30L
| 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: ENSMUST00000141221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146790
AA Change: H30L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000121797
Gene: ENSMUSG00000031391
AA Change: H30L
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
| Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
| Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
| Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
| Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
| Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
| Klhl28 |
C |
T |
12: 64,998,340 (GRCm39) |
A385T |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
| Lss |
A |
T |
10: 76,367,860 (GRCm39) |
|
probably benign |
Het |
| Mrnip |
A |
T |
11: 50,090,596 (GRCm39) |
Q253H |
probably damaging |
Het |
| Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,253 (GRCm39) |
E143G |
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,080,902 (GRCm39) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
| Or1ab2 |
T |
A |
8: 72,863,842 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
| Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
| Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
| Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
| Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
| Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,746 (GRCm39) |
|
probably benign |
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 |
|
IGL02074:L1cam
|
APN |
X |
72,906,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation