Incidental Mutation 'IGL02066:Chl1'
ID |
185654 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chl1
|
Ensembl Gene |
ENSMUSG00000030077 |
Gene Name |
cell adhesion molecule L1-like |
Synonyms |
A530023M13Rik, close homolog of L1, LICAM2, CALL |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.458)
|
Stock # |
IGL02066
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
103487372-103709999 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103675185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 624
(V624A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066905]
[ENSMUST00000203830]
[ENSMUST00000203912]
[ENSMUST00000205098]
|
AlphaFold |
P70232 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066905
AA Change: V608A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000063933 Gene: ENSMUSG00000030077 AA Change: V608A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG_like
|
48 |
116 |
3.14e-2 |
SMART |
IG
|
138 |
225 |
1.36e-5 |
SMART |
IGc2
|
253 |
317 |
3.76e-17 |
SMART |
IGc2
|
343 |
408 |
1.61e-7 |
SMART |
IGc2
|
436 |
501 |
1.56e-5 |
SMART |
IG
|
521 |
609 |
6.02e-7 |
SMART |
IG_like
|
539 |
598 |
1.27e-1 |
SMART |
FN3
|
612 |
695 |
2.24e-13 |
SMART |
FN3
|
712 |
794 |
1.92e-3 |
SMART |
FN3
|
810 |
901 |
2.3e-1 |
SMART |
FN3
|
916 |
1002 |
4.09e-7 |
SMART |
transmembrane domain
|
1082 |
1104 |
N/A |
INTRINSIC |
Pfam:Bravo_FIGEY
|
1105 |
1190 |
3.9e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203830
AA Change: V608A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000144758 Gene: ENSMUSG00000030077 AA Change: V608A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG_like
|
48 |
116 |
3.14e-2 |
SMART |
IG
|
138 |
225 |
1.36e-5 |
SMART |
IGc2
|
253 |
317 |
3.76e-17 |
SMART |
IGc2
|
343 |
408 |
1.61e-7 |
SMART |
IGc2
|
436 |
501 |
1.56e-5 |
SMART |
IG
|
521 |
609 |
6.02e-7 |
SMART |
IG_like
|
539 |
598 |
1.27e-1 |
SMART |
FN3
|
612 |
695 |
2.24e-13 |
SMART |
FN3
|
712 |
794 |
1.92e-3 |
SMART |
FN3
|
810 |
901 |
2.3e-1 |
SMART |
FN3
|
916 |
1002 |
4.09e-7 |
SMART |
transmembrane domain
|
1082 |
1104 |
N/A |
INTRINSIC |
Pfam:Bravo_FIGEY
|
1105 |
1190 |
3.9e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203912
AA Change: V624A
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000145026 Gene: ENSMUSG00000030077 AA Change: V624A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG_like
|
48 |
116 |
3.14e-2 |
SMART |
IG
|
138 |
225 |
1.36e-5 |
SMART |
IGc2
|
269 |
333 |
3.76e-17 |
SMART |
IGc2
|
359 |
424 |
1.61e-7 |
SMART |
IGc2
|
452 |
517 |
1.56e-5 |
SMART |
IG
|
537 |
625 |
6.02e-7 |
SMART |
IG_like
|
555 |
614 |
1.27e-1 |
SMART |
FN3
|
628 |
711 |
2.24e-13 |
SMART |
FN3
|
728 |
810 |
1.92e-3 |
SMART |
FN3
|
826 |
917 |
2.3e-1 |
SMART |
FN3
|
932 |
1018 |
4.09e-7 |
SMART |
transmembrane domain
|
1044 |
1066 |
N/A |
INTRINSIC |
Pfam:Bravo_FIGEY
|
1067 |
1131 |
2.5e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205098
|
SMART Domains |
Protein: ENSMUSP00000144739 Gene: ENSMUSG00000030077
Domain | Start | End | E-Value | Type |
FN3
|
4 |
67 |
4.4e-1 |
SMART |
FN3
|
83 |
174 |
1.2e-3 |
SMART |
FN3
|
189 |
275 |
2.1e-9 |
SMART |
transmembrane domain
|
301 |
323 |
N/A |
INTRINSIC |
Pfam:Bravo_FIGEY
|
324 |
409 |
3.6e-30 |
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 a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] PHENOTYPE: Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,626,854 (GRCm39) |
C569S |
probably damaging |
Het |
Adck5 |
T |
C |
15: 76,479,406 (GRCm39) |
V487A |
probably damaging |
Het |
Agfg1 |
A |
G |
1: 82,871,279 (GRCm39) |
T483A |
probably damaging |
Het |
Akr1c12 |
T |
C |
13: 4,326,236 (GRCm39) |
T82A |
probably damaging |
Het |
Ano2 |
T |
A |
6: 125,667,702 (GRCm39) |
L6Q |
probably benign |
Het |
Anp32a |
G |
A |
9: 62,284,615 (GRCm39) |
|
probably benign |
Het |
Bltp2 |
G |
A |
11: 78,164,058 (GRCm39) |
R1133H |
probably damaging |
Het |
Cep250 |
C |
A |
2: 155,818,441 (GRCm39) |
A871D |
probably damaging |
Het |
Clasp1 |
G |
A |
1: 118,492,990 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
T |
G |
3: 144,519,216 (GRCm39) |
D320A |
probably benign |
Het |
Cnot9 |
A |
G |
1: 74,566,212 (GRCm39) |
Q201R |
possibly damaging |
Het |
Cox4i2 |
C |
T |
2: 152,602,602 (GRCm39) |
R99C |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 15,976,594 (GRCm39) |
F2875I |
probably damaging |
Het |
Dpagt1 |
A |
G |
9: 44,243,203 (GRCm39) |
Y246C |
probably damaging |
Het |
Dsc1 |
A |
G |
18: 20,241,860 (GRCm39) |
|
probably benign |
Het |
Eef1d |
G |
A |
15: 75,768,704 (GRCm39) |
T464I |
probably benign |
Het |
Efna2 |
C |
T |
10: 80,024,500 (GRCm39) |
|
probably benign |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Etaa1 |
C |
A |
11: 17,896,687 (GRCm39) |
V477L |
probably benign |
Het |
Fam83d |
C |
T |
2: 158,627,793 (GRCm39) |
T494M |
probably benign |
Het |
Fbxo24 |
C |
T |
5: 137,611,132 (GRCm39) |
V553M |
probably damaging |
Het |
Gal3st2 |
A |
G |
1: 93,801,379 (GRCm39) |
T12A |
probably damaging |
Het |
Gba2 |
G |
A |
4: 43,570,175 (GRCm39) |
T373I |
probably benign |
Het |
Kitl |
T |
A |
10: 99,912,744 (GRCm39) |
C154S |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,001,091 (GRCm39) |
C2044* |
probably null |
Het |
Lrp6 |
G |
T |
6: 134,427,900 (GRCm39) |
S1564* |
probably null |
Het |
Manea |
A |
T |
4: 26,340,965 (GRCm39) |
|
probably benign |
Het |
Myt1 |
T |
C |
2: 181,438,982 (GRCm39) |
L168P |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,350,408 (GRCm39) |
E2244G |
possibly damaging |
Het |
Nsd3 |
T |
G |
8: 26,203,515 (GRCm39) |
V1343G |
probably damaging |
Het |
Nup155 |
T |
C |
15: 8,187,250 (GRCm39) |
|
probably benign |
Het |
Obox6 |
T |
C |
7: 15,568,628 (GRCm39) |
I83V |
probably benign |
Het |
Or12k5 |
A |
T |
2: 36,895,321 (GRCm39) |
F102I |
probably damaging |
Het |
Or13a24 |
A |
T |
7: 140,154,413 (GRCm39) |
T116S |
possibly damaging |
Het |
Pdgfra |
T |
C |
5: 75,331,241 (GRCm39) |
V282A |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,736,303 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
A |
T |
8: 110,268,365 (GRCm39) |
I971F |
possibly damaging |
Het |
Ppp6c |
T |
C |
2: 39,089,683 (GRCm39) |
T199A |
probably benign |
Het |
Ptpra |
A |
G |
2: 30,333,308 (GRCm39) |
T3A |
possibly damaging |
Het |
Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
Rptn |
A |
C |
3: 93,304,436 (GRCm39) |
S590R |
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,115,482 (GRCm39) |
D947G |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,575 (GRCm39) |
T229A |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,744,719 (GRCm39) |
M423K |
probably damaging |
Het |
Slc6a12 |
T |
A |
6: 121,329,015 (GRCm39) |
I111N |
probably damaging |
Het |
Slc6a15 |
T |
A |
10: 103,252,519 (GRCm39) |
L561I |
probably damaging |
Het |
Spag5 |
A |
G |
11: 78,195,358 (GRCm39) |
N222D |
probably benign |
Het |
Spp2 |
G |
A |
1: 88,344,965 (GRCm39) |
M54I |
probably benign |
Het |
Sptbn4 |
T |
C |
7: 27,063,940 (GRCm39) |
E847G |
possibly damaging |
Het |
Timd2 |
T |
A |
11: 46,569,050 (GRCm39) |
N203Y |
probably damaging |
Het |
Togaram1 |
G |
T |
12: 65,030,195 (GRCm39) |
D1000Y |
probably damaging |
Het |
Usp47 |
C |
T |
7: 111,663,604 (GRCm39) |
R258C |
probably damaging |
Het |
Uts2r |
A |
C |
11: 121,051,523 (GRCm39) |
D129A |
probably damaging |
Het |
Vmn2r102 |
G |
A |
17: 19,914,191 (GRCm39) |
M585I |
probably benign |
Het |
Vmn2r77 |
A |
T |
7: 86,452,836 (GRCm39) |
R518* |
probably null |
Het |
Wdfy4 |
C |
T |
14: 32,871,523 (GRCm39) |
R296K |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,356,415 (GRCm39) |
K3725N |
probably benign |
Het |
Xntrpc |
T |
C |
7: 101,727,036 (GRCm39) |
S142P |
probably benign |
Het |
Zfat |
T |
C |
15: 68,052,678 (GRCm39) |
H372R |
probably damaging |
Het |
|
Other mutations in Chl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00590:Chl1
|
APN |
6 |
103,670,022 (GRCm39) |
missense |
probably benign |
0.08 |
IGL00786:Chl1
|
APN |
6 |
103,652,106 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00959:Chl1
|
APN |
6 |
103,686,211 (GRCm39) |
splice site |
probably null |
|
IGL01109:Chl1
|
APN |
6 |
103,692,354 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01354:Chl1
|
APN |
6 |
103,642,814 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01367:Chl1
|
APN |
6 |
103,706,186 (GRCm39) |
missense |
probably benign |
0.42 |
IGL01371:Chl1
|
APN |
6 |
103,692,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01599:Chl1
|
APN |
6 |
103,685,445 (GRCm39) |
missense |
probably benign |
0.34 |
IGL01724:Chl1
|
APN |
6 |
103,626,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02001:Chl1
|
APN |
6 |
103,619,017 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02122:Chl1
|
APN |
6 |
103,652,098 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02340:Chl1
|
APN |
6 |
103,675,086 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Chl1
|
APN |
6 |
103,692,330 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02421:Chl1
|
APN |
6 |
103,694,541 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02429:Chl1
|
APN |
6 |
103,641,770 (GRCm39) |
unclassified |
probably benign |
|
IGL02825:Chl1
|
APN |
6 |
103,645,764 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02858:Chl1
|
APN |
6 |
103,618,949 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03169:Chl1
|
APN |
6 |
103,642,928 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03185:Chl1
|
APN |
6 |
103,642,824 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03189:Chl1
|
APN |
6 |
103,660,168 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03288:Chl1
|
APN |
6 |
103,652,058 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03404:Chl1
|
APN |
6 |
103,670,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03052:Chl1
|
UTSW |
6 |
103,668,628 (GRCm39) |
missense |
probably benign |
0.01 |
R0060:Chl1
|
UTSW |
6 |
103,688,019 (GRCm39) |
splice site |
probably benign |
|
R0060:Chl1
|
UTSW |
6 |
103,688,019 (GRCm39) |
splice site |
probably benign |
|
R0062:Chl1
|
UTSW |
6 |
103,726,613 (GRCm39) |
missense |
unknown |
|
R0314:Chl1
|
UTSW |
6 |
103,624,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Chl1
|
UTSW |
6 |
103,678,844 (GRCm39) |
splice site |
probably benign |
|
R0685:Chl1
|
UTSW |
6 |
103,685,503 (GRCm39) |
splice site |
probably null |
|
R0702:Chl1
|
UTSW |
6 |
103,683,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R1056:Chl1
|
UTSW |
6 |
103,652,038 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1138:Chl1
|
UTSW |
6 |
103,670,140 (GRCm39) |
missense |
probably benign |
0.05 |
R1483:Chl1
|
UTSW |
6 |
103,624,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1571:Chl1
|
UTSW |
6 |
103,685,445 (GRCm39) |
missense |
probably benign |
0.34 |
R1620:Chl1
|
UTSW |
6 |
103,667,203 (GRCm39) |
missense |
probably benign |
0.00 |
R1645:Chl1
|
UTSW |
6 |
103,660,141 (GRCm39) |
missense |
probably benign |
0.06 |
R1773:Chl1
|
UTSW |
6 |
103,624,292 (GRCm39) |
critical splice donor site |
probably null |
|
R1852:Chl1
|
UTSW |
6 |
103,676,120 (GRCm39) |
splice site |
probably null |
|
R1891:Chl1
|
UTSW |
6 |
103,691,544 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2146:Chl1
|
UTSW |
6 |
103,692,362 (GRCm39) |
critical splice donor site |
probably null |
|
R2147:Chl1
|
UTSW |
6 |
103,692,362 (GRCm39) |
critical splice donor site |
probably null |
|
R2148:Chl1
|
UTSW |
6 |
103,692,362 (GRCm39) |
critical splice donor site |
probably null |
|
R2163:Chl1
|
UTSW |
6 |
103,688,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Chl1
|
UTSW |
6 |
103,692,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R2920:Chl1
|
UTSW |
6 |
103,672,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R3611:Chl1
|
UTSW |
6 |
103,675,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Chl1
|
UTSW |
6 |
103,692,245 (GRCm39) |
nonsense |
probably null |
|
R4987:Chl1
|
UTSW |
6 |
103,651,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R5266:Chl1
|
UTSW |
6 |
103,677,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R5478:Chl1
|
UTSW |
6 |
103,660,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R5523:Chl1
|
UTSW |
6 |
103,685,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R5887:Chl1
|
UTSW |
6 |
103,694,565 (GRCm39) |
missense |
probably benign |
0.00 |
R5986:Chl1
|
UTSW |
6 |
103,686,152 (GRCm39) |
missense |
probably benign |
0.45 |
R6101:Chl1
|
UTSW |
6 |
103,669,993 (GRCm39) |
missense |
probably damaging |
0.96 |
R6179:Chl1
|
UTSW |
6 |
103,660,204 (GRCm39) |
missense |
probably benign |
0.38 |
R6366:Chl1
|
UTSW |
6 |
103,706,197 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6634:Chl1
|
UTSW |
6 |
103,667,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R6824:Chl1
|
UTSW |
6 |
103,691,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R6913:Chl1
|
UTSW |
6 |
103,642,909 (GRCm39) |
nonsense |
probably null |
|
R7097:Chl1
|
UTSW |
6 |
103,683,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R7122:Chl1
|
UTSW |
6 |
103,683,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R7198:Chl1
|
UTSW |
6 |
103,683,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Chl1
|
UTSW |
6 |
103,668,635 (GRCm39) |
missense |
probably benign |
0.13 |
R7527:Chl1
|
UTSW |
6 |
103,688,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R7625:Chl1
|
UTSW |
6 |
103,706,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R7667:Chl1
|
UTSW |
6 |
103,672,456 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7683:Chl1
|
UTSW |
6 |
103,668,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7712:Chl1
|
UTSW |
6 |
103,688,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7838:Chl1
|
UTSW |
6 |
103,668,635 (GRCm39) |
missense |
probably benign |
0.01 |
R7863:Chl1
|
UTSW |
6 |
103,683,475 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7874:Chl1
|
UTSW |
6 |
103,667,224 (GRCm39) |
missense |
probably benign |
0.22 |
R7998:Chl1
|
UTSW |
6 |
103,706,250 (GRCm39) |
missense |
probably benign |
0.01 |
R8044:Chl1
|
UTSW |
6 |
103,683,593 (GRCm39) |
missense |
probably damaging |
0.96 |
R8059:Chl1
|
UTSW |
6 |
103,651,948 (GRCm39) |
missense |
probably damaging |
0.97 |
R8462:Chl1
|
UTSW |
6 |
103,706,130 (GRCm39) |
missense |
probably benign |
0.11 |
R8558:Chl1
|
UTSW |
6 |
103,685,390 (GRCm39) |
missense |
probably benign |
0.14 |
R8827:Chl1
|
UTSW |
6 |
103,670,111 (GRCm39) |
missense |
probably benign |
|
R8865:Chl1
|
UTSW |
6 |
103,685,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R8939:Chl1
|
UTSW |
6 |
103,642,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R9092:Chl1
|
UTSW |
6 |
103,645,815 (GRCm39) |
unclassified |
probably benign |
|
Z1177:Chl1
|
UTSW |
6 |
103,674,910 (GRCm39) |
start gained |
probably benign |
|
Z1177:Chl1
|
UTSW |
6 |
103,670,057 (GRCm39) |
nonsense |
probably null |
|
Z1191:Chl1
|
UTSW |
6 |
103,660,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |