Incidental Mutation 'IGL01599:Chl1'
ID |
92031 |
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 # |
IGL01599
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
103487372-103709999 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103685445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 829
(T829A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066905]
[ENSMUST00000203830]
[ENSMUST00000203912]
[ENSMUST00000205098]
|
AlphaFold |
P70232 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066905
AA Change: T829A
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000063933 Gene: ENSMUSG00000030077 AA Change: T829A
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: T829A
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144758 Gene: ENSMUSG00000030077 AA Change: T829A
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: T845A
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000145026 Gene: ENSMUSG00000030077 AA Change: T845A
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
AA Change: T102A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000144739 Gene: ENSMUSG00000030077 AA Change: T102A
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
T |
C |
1: 90,141,856 (GRCm39) |
V105A |
probably benign |
Het |
Acr |
T |
C |
15: 89,452,617 (GRCm39) |
V18A |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Aldh16a1 |
A |
G |
7: 44,791,517 (GRCm39) |
F753L |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,629,191 (GRCm39) |
Y338N |
probably benign |
Het |
Aox3 |
C |
T |
1: 58,208,953 (GRCm39) |
R829C |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,644,353 (GRCm39) |
S1535P |
probably benign |
Het |
C4b |
A |
G |
17: 34,961,993 (GRCm39) |
|
probably benign |
Het |
Ccdc157 |
A |
G |
11: 4,098,781 (GRCm39) |
C242R |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,741,194 (GRCm39) |
M90K |
possibly damaging |
Het |
Cfap36 |
A |
T |
11: 29,194,057 (GRCm39) |
|
probably null |
Het |
Copb2 |
T |
C |
9: 98,463,203 (GRCm39) |
S473P |
probably damaging |
Het |
Cpb1 |
C |
T |
3: 20,306,118 (GRCm39) |
|
probably null |
Het |
Cpsf1 |
A |
G |
15: 76,480,741 (GRCm39) |
L1295P |
probably damaging |
Het |
Dmp1 |
C |
T |
5: 104,360,328 (GRCm39) |
Q335* |
probably null |
Het |
Dyrk1a |
T |
A |
16: 94,492,743 (GRCm39) |
S621T |
possibly damaging |
Het |
Exoc5 |
T |
A |
14: 49,272,421 (GRCm39) |
Q331L |
probably benign |
Het |
Fmnl1 |
G |
A |
11: 103,077,482 (GRCm39) |
V287M |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,857,750 (GRCm39) |
S2015P |
possibly damaging |
Het |
Gm7052 |
T |
C |
17: 22,258,985 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
A |
G |
11: 114,755,078 (GRCm39) |
I252V |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,301,629 (GRCm39) |
|
probably null |
Het |
L1td1 |
A |
G |
4: 98,625,581 (GRCm39) |
D592G |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,025,720 (GRCm39) |
M1137V |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,148,481 (GRCm39) |
A751E |
probably benign |
Het |
Lfng |
T |
C |
5: 140,598,290 (GRCm39) |
V204A |
probably damaging |
Het |
Lsm14b |
A |
G |
2: 179,674,396 (GRCm39) |
D233G |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,863,836 (GRCm39) |
P354S |
probably benign |
Het |
Mapt |
G |
A |
11: 104,185,741 (GRCm39) |
V53M |
probably damaging |
Het |
Mier1 |
T |
G |
4: 103,012,738 (GRCm39) |
S377A |
possibly damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,660 (GRCm39) |
D29G |
probably damaging |
Het |
Npr3 |
G |
A |
15: 11,895,875 (GRCm39) |
A257V |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,217,537 (GRCm39) |
V824A |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,258,750 (GRCm39) |
S333P |
probably damaging |
Het |
Or7g30 |
T |
G |
9: 19,353,111 (GRCm39) |
F301V |
probably benign |
Het |
Or9a4 |
A |
C |
6: 40,549,186 (GRCm39) |
I289L |
probably damaging |
Het |
Pbxip1 |
C |
A |
3: 89,350,897 (GRCm39) |
|
probably benign |
Het |
Pde9a |
G |
T |
17: 31,633,124 (GRCm39) |
C38F |
probably damaging |
Het |
Plb1 |
A |
T |
5: 32,499,888 (GRCm39) |
|
probably benign |
Het |
Plcz1 |
T |
C |
6: 139,947,982 (GRCm39) |
|
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,939,672 (GRCm39) |
V1447A |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,125,415 (GRCm39) |
M73K |
probably benign |
Het |
Psg20 |
C |
T |
7: 18,414,963 (GRCm39) |
V311M |
possibly damaging |
Het |
Psmd2 |
G |
T |
16: 20,478,155 (GRCm39) |
|
probably null |
Het |
Rabgap1 |
T |
C |
2: 37,446,281 (GRCm39) |
V859A |
probably damaging |
Het |
Rad51b |
T |
A |
12: 79,374,002 (GRCm39) |
S194T |
probably benign |
Het |
Rb1cc1 |
C |
T |
1: 6,318,995 (GRCm39) |
Q788* |
probably null |
Het |
Ror2 |
C |
T |
13: 53,265,653 (GRCm39) |
G468R |
probably damaging |
Het |
Slamf7 |
A |
G |
1: 171,468,754 (GRCm39) |
I46T |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,758,759 (GRCm39) |
S1060P |
probably damaging |
Het |
Syndig1 |
T |
A |
2: 149,845,203 (GRCm39) |
V242E |
probably damaging |
Het |
Tgfbr3 |
G |
A |
5: 107,266,317 (GRCm39) |
T801M |
probably damaging |
Het |
Tmem132c |
T |
C |
5: 127,436,616 (GRCm39) |
|
probably benign |
Het |
Trav21-dv12 |
T |
C |
14: 54,114,188 (GRCm39) |
Y103H |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,370,596 (GRCm39) |
S871P |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,768,522 (GRCm39) |
V443A |
probably damaging |
Het |
Uhrf2 |
G |
T |
19: 30,069,520 (GRCm39) |
C749F |
probably damaging |
Het |
Ulk2 |
G |
T |
11: 61,682,262 (GRCm39) |
S751* |
probably null |
Het |
Wrn |
G |
A |
8: 33,731,039 (GRCm39) |
P1098S |
possibly damaging |
Het |
Xrcc5 |
T |
C |
1: 72,385,508 (GRCm39) |
V533A |
possibly damaging |
Het |
Zc3h13 |
T |
C |
14: 75,547,163 (GRCm39) |
S223P |
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 |
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 |
IGL02066:Chl1
|
APN |
6 |
103,675,185 (GRCm39) |
missense |
probably benign |
0.39 |
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 |
2013-12-09 |