Incidental Mutation 'R0322:Chl1'
| ID |
25611 |
| 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 |
038532-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R0322 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
103487372-103709999 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 103678844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066905]
[ENSMUST00000203830]
[ENSMUST00000203912]
[ENSMUST00000205098]
|
| AlphaFold |
P70232 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066905
|
| SMART Domains |
Protein: ENSMUSP00000063933
Gene: ENSMUSG00000030077
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144758
Gene: ENSMUSG00000030077
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145026
Gene: ENSMUSG00000030077
| 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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.8%
- 20x: 84.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,888,768 (GRCm39) |
S275T |
possibly damaging |
Het |
| Adam34 |
G |
T |
8: 44,104,958 (GRCm39) |
T229N |
probably benign |
Het |
| Adgrb3 |
C |
A |
1: 25,260,829 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Arl9 |
A |
G |
5: 77,155,037 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
G |
A |
2: 118,470,099 (GRCm39) |
|
probably benign |
Het |
| Cobl |
T |
A |
11: 12,217,072 (GRCm39) |
E465V |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,932,442 (GRCm39) |
M520K |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,995,793 (GRCm39) |
V336A |
possibly damaging |
Het |
| Dnmbp |
T |
C |
19: 43,843,285 (GRCm39) |
H1193R |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,152,338 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,760 (GRCm39) |
M175K |
possibly damaging |
Het |
| Gpc5 |
T |
A |
14: 115,636,563 (GRCm39) |
N415K |
probably benign |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Il7r |
A |
T |
15: 9,510,301 (GRCm39) |
F251I |
probably benign |
Het |
| Insc |
A |
G |
7: 114,391,500 (GRCm39) |
E141G |
probably damaging |
Het |
| Itm2c |
C |
T |
1: 85,834,751 (GRCm39) |
T160M |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,416,063 (GRCm39) |
|
probably benign |
Het |
| Mdm2 |
G |
T |
10: 117,538,109 (GRCm39) |
H96Q |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,371,745 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
C |
10: 39,823,526 (GRCm39) |
N245D |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Mymk |
A |
T |
2: 26,957,418 (GRCm39) |
L66Q |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,720,626 (GRCm39) |
S767P |
probably damaging |
Het |
| Ndufa8 |
T |
C |
2: 35,926,634 (GRCm39) |
D134G |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,982,566 (GRCm39) |
F83S |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,179,042 (GRCm39) |
I123L |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,059,534 (GRCm39) |
T394A |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,509,011 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,521 (GRCm39) |
Y178C |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,383 (GRCm39) |
T306A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,140,775 (GRCm39) |
|
probably benign |
Het |
| Phyhip |
G |
A |
14: 70,700,836 (GRCm39) |
V108M |
possibly damaging |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Psmb4 |
A |
G |
3: 94,793,402 (GRCm39) |
Y160H |
probably benign |
Het |
| Riox2 |
A |
T |
16: 59,309,752 (GRCm39) |
K369* |
probably null |
Het |
| Rnf26rt |
T |
C |
6: 76,473,401 (GRCm39) |
Y405C |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,863,905 (GRCm39) |
P761S |
possibly damaging |
Het |
| Slc6a3 |
T |
A |
13: 73,709,045 (GRCm39) |
V323D |
possibly damaging |
Het |
| Smg7 |
A |
G |
1: 152,725,624 (GRCm39) |
|
probably null |
Het |
| Srrt |
G |
A |
5: 137,294,870 (GRCm39) |
R370C |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,266,858 (GRCm39) |
V7A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,057,996 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
A |
G |
2: 23,984,991 (GRCm39) |
V51A |
probably benign |
Het |
| Tecr |
A |
G |
8: 84,298,872 (GRCm39) |
Y248H |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,689,947 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
C |
T |
6: 86,397,369 (GRCm39) |
A114V |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,739,275 (GRCm39) |
M2K |
probably benign |
Het |
| Tnfsf8 |
T |
C |
4: 63,752,403 (GRCm39) |
T221A |
probably damaging |
Het |
| Tubgcp5 |
G |
A |
7: 55,464,726 (GRCm39) |
G536S |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,142,125 (GRCm39) |
I145N |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,149,729 (GRCm39) |
V1809E |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,756 (GRCm39) |
N309K |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTGCTGGGGTATAAGCAACATT -3'
(R):5'- AACCACTGTGGTCCTAAAACACTGAAAA -3'
Sequencing Primer
(F):5'- TATTCCACCACATCATCACTGTAGAG -3'
(R):5'- ATAACCCAAAAATGTAGCTTGATTCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation