Incidental Mutation 'R5986:Chl1'
ID |
481647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chl1
|
Ensembl Gene |
ENSMUSG00000030077 |
Gene Name |
cell adhesion molecule L1-like |
Synonyms |
A530023M13Rik, close homolog of L1, LICAM2, CALL |
MMRRC Submission |
044166-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.458)
|
Stock # |
R5986 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
103487372-103709999 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 103686152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 954
(L954I)
|
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: L938I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000063933 Gene: ENSMUSG00000030077 AA Change: L938I
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: L938I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144758 Gene: ENSMUSG00000030077 AA Change: L938I
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: L954I
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000145026 Gene: ENSMUSG00000030077 AA Change: L954I
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: L211I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000144739 Gene: ENSMUSG00000030077 AA Change: L211I
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
T |
3: 116,566,145 (GRCm39) |
F992I |
probably damaging |
Het |
Ampd1 |
T |
C |
3: 102,992,713 (GRCm39) |
F152L |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,806,335 (GRCm39) |
H602R |
possibly damaging |
Het |
Ankib1 |
T |
C |
5: 3,797,071 (GRCm39) |
D247G |
probably damaging |
Het |
Bccip |
T |
A |
7: 133,322,594 (GRCm39) |
H313Q |
probably benign |
Het |
Ccdc198 |
A |
T |
14: 49,470,403 (GRCm39) |
L172H |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,821,197 (GRCm39) |
E929G |
probably damaging |
Het |
Cog5 |
A |
T |
12: 31,710,716 (GRCm39) |
D32V |
probably benign |
Het |
Cyp4f16 |
C |
A |
17: 32,763,116 (GRCm39) |
A187E |
probably benign |
Het |
Dffb |
A |
T |
4: 154,050,050 (GRCm39) |
V271E |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,070,604 (GRCm39) |
Y4430C |
possibly damaging |
Het |
Dpp3 |
T |
C |
19: 4,968,385 (GRCm39) |
E229G |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,909,613 (GRCm39) |
N2130Y |
probably benign |
Het |
Kcnk3 |
T |
C |
5: 30,745,722 (GRCm39) |
V21A |
possibly damaging |
Het |
Kif9 |
G |
A |
9: 110,319,094 (GRCm39) |
S186N |
probably benign |
Het |
Lhfpl3 |
C |
A |
5: 22,951,424 (GRCm39) |
N78K |
probably benign |
Het |
Ly6c1 |
A |
G |
15: 74,917,457 (GRCm39) |
S64P |
probably damaging |
Het |
Mapk10 |
T |
C |
5: 103,186,446 (GRCm39) |
T59A |
probably benign |
Het |
Mars1 |
A |
T |
10: 127,140,171 (GRCm39) |
C394* |
probably null |
Het |
Mettl16 |
T |
A |
11: 74,683,063 (GRCm39) |
D168E |
possibly damaging |
Het |
Mgat2 |
A |
T |
12: 69,232,158 (GRCm39) |
Q244L |
probably benign |
Het |
Mrps30 |
A |
G |
13: 118,521,101 (GRCm39) |
|
probably null |
Het |
Myrip |
C |
A |
9: 120,290,487 (GRCm39) |
A702E |
probably damaging |
Het |
Nepn |
T |
C |
10: 52,280,168 (GRCm39) |
L420P |
probably damaging |
Het |
Nrn1 |
A |
T |
13: 36,918,238 (GRCm39) |
Y9* |
probably null |
Het |
Nup107 |
T |
C |
10: 117,595,081 (GRCm39) |
Y752C |
probably damaging |
Het |
Nutm2 |
A |
T |
13: 50,628,496 (GRCm39) |
D520V |
probably damaging |
Het |
Olfm2 |
C |
T |
9: 20,586,946 (GRCm39) |
C48Y |
probably damaging |
Het |
Or52j3 |
T |
C |
7: 102,836,735 (GRCm39) |
F309S |
possibly damaging |
Het |
Or8g19 |
A |
G |
9: 39,056,278 (GRCm39) |
N294S |
probably null |
Het |
Osbpl1a |
T |
A |
18: 13,038,138 (GRCm39) |
D271V |
probably damaging |
Het |
Osmr |
G |
T |
15: 6,873,934 (GRCm39) |
D154E |
probably benign |
Het |
Pcdh9 |
A |
G |
14: 94,124,484 (GRCm39) |
V562A |
probably damaging |
Het |
Peak1 |
A |
C |
9: 56,166,726 (GRCm39) |
S401A |
probably benign |
Het |
Pigk |
A |
T |
3: 152,446,486 (GRCm39) |
H195L |
probably benign |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Ppp2r1a |
C |
T |
17: 21,171,608 (GRCm39) |
R28C |
probably damaging |
Het |
Pramel30 |
G |
T |
4: 144,059,323 (GRCm39) |
V345F |
probably damaging |
Het |
Ptbp3 |
T |
C |
4: 59,493,311 (GRCm39) |
D123G |
probably benign |
Het |
Ptgr2 |
G |
A |
12: 84,355,120 (GRCm39) |
E285K |
possibly damaging |
Het |
Rassf1 |
G |
T |
9: 107,429,021 (GRCm39) |
V76L |
possibly damaging |
Het |
Sec22a |
A |
G |
16: 35,134,461 (GRCm39) |
V307A |
probably damaging |
Het |
Skint5 |
C |
T |
4: 113,852,845 (GRCm39) |
V18I |
probably benign |
Het |
Slc1a5 |
T |
C |
7: 16,516,151 (GRCm39) |
V109A |
probably benign |
Het |
St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
Tiam1 |
T |
C |
16: 89,586,074 (GRCm39) |
E602G |
probably benign |
Het |
Tll1 |
T |
C |
8: 64,527,297 (GRCm39) |
E408G |
probably damaging |
Het |
Tpsb2 |
G |
A |
17: 25,586,108 (GRCm39) |
V109M |
probably benign |
Het |
Trib1 |
T |
A |
15: 59,526,451 (GRCm39) |
|
probably null |
Het |
Trio |
G |
T |
15: 27,852,019 (GRCm39) |
A765E |
possibly damaging |
Het |
Uggt2 |
A |
T |
14: 119,286,838 (GRCm39) |
V193E |
probably damaging |
Het |
Vmn1r115 |
G |
A |
7: 20,578,447 (GRCm39) |
P155L |
probably benign |
Het |
Wdr31 |
A |
G |
4: 62,374,113 (GRCm39) |
L292S |
probably benign |
Het |
Xrra1 |
T |
C |
7: 99,525,462 (GRCm39) |
I127T |
probably benign |
Het |
Yju2 |
G |
A |
17: 56,269,030 (GRCm39) |
C46Y |
probably damaging |
Het |
Zfp442 |
G |
A |
2: 150,249,944 (GRCm39) |
Q596* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGCCACTTATGCAAATTAC -3'
(R):5'- AGGCACATTACTGATCCCTGTG -3'
Sequencing Primer
(F):5'- CTCATAGGAGTTTACATCTGAGTTTC -3'
(R):5'- ATCCCTGTGCTATAAGGAATAGTGG -3'
|
Posted On |
2017-06-26 |