Incidental Mutation 'R0702:Chl1'
ID | 63051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chl1
|
Ensembl Gene |
ENSMUSG00000030077 |
Gene Name | cell adhesion molecule L1-like |
Synonyms | A530023M13Rik, LICAM2, close homolog of L1, CALL |
MMRRC Submission |
038885-MU
|
Accession Numbers | |
Is this an essential gene? |
Possibly essential (E-score: 0.572)
|
Stock # | R0702 (G1)
|
Quality Score | 108 |
Status |
Not validated
|
Chromosome | 6 |
Chromosomal Location | 103510586-103750211 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to G
at 103706622 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 819
(Y819C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066905]
[ENSMUST00000203830]
[ENSMUST00000203912]
[ENSMUST00000205098]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066905
AA Change: Y803C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063933 Gene: ENSMUSG00000030077 AA Change: Y803C
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 damaging
Transcript: ENSMUST00000203830
AA Change: Y803C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144758 Gene: ENSMUSG00000030077 AA Change: Y803C
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 damaging
Transcript: ENSMUST00000203912
AA Change: Y819C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145026 Gene: ENSMUSG00000030077 AA Change: Y819C
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 damaging
Transcript: ENSMUST00000205098
AA Change: Y76C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144739 Gene: ENSMUSG00000030077 AA Change: Y76C
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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd11 |
A |
T |
8: 122,889,766 |
I2428N |
probably damaging |
Het |
Ano9 |
A |
G |
7: 141,107,282 |
V348A |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,644,465 |
I132T |
probably benign |
Het |
Chd1l |
C |
T |
3: 97,566,794 |
D791N |
probably benign |
Het |
Col5a2 |
T |
A |
1: 45,380,131 |
D1263V |
possibly damaging |
Het |
Csnk1g1 |
C |
T |
9: 66,010,493 |
R45W |
probably damaging |
Het |
Cul7 |
T |
A |
17: 46,663,190 |
L1467H |
probably damaging |
Het |
Dgat2l6 |
G |
A |
X: 100,542,681 |
V180M |
probably damaging |
Het |
Fscb |
G |
A |
12: 64,472,001 |
P897L |
unknown |
Het |
Herc6 |
T |
C |
6: 57,581,107 |
L24P |
probably damaging |
Het |
Il23r |
T |
A |
6: 67,466,285 |
Q278L |
probably damaging |
Het |
Kpna4 |
A |
T |
3: 69,084,105 |
V361D |
probably damaging |
Het |
Muc1 |
A |
G |
3: 89,230,220 |
D123G |
probably benign |
Het |
Notch4 |
A |
G |
17: 34,575,203 |
Y722C |
probably damaging |
Het |
Ntng1 |
G |
C |
3: 109,872,254 |
R336G |
probably damaging |
Het |
Olfr199 |
T |
C |
16: 59,215,699 |
M305V |
probably benign |
Het |
Pgbd5 |
C |
T |
8: 124,374,255 |
V421M |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,785,971 |
T2950A |
possibly damaging |
Het |
Proser3 |
A |
T |
7: 30,539,530 |
D630E |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,863,929 |
V262M |
possibly damaging |
Het |
Serpina3g |
A |
G |
12: 104,241,253 |
E225G |
probably damaging |
Het |
Slc2a13 |
T |
C |
15: 91,321,667 |
D439G |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,177,409 |
L352P |
probably damaging |
Het |
Trpc5 |
A |
G |
X: 144,411,739 |
V590A |
probably damaging |
Het |
Ubqln2 |
A |
T |
X: 153,499,669 |
M406L |
possibly damaging |
Het |
|
Other mutations in Chl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00590:Chl1
|
APN |
6 |
103693061 |
missense |
probably benign |
0.08 |
IGL00786:Chl1
|
APN |
6 |
103675145 |
missense |
probably damaging |
1.00 |
IGL00959:Chl1
|
APN |
6 |
103709250 |
splice site |
probably null |
|
IGL01109:Chl1
|
APN |
6 |
103715393 |
missense |
probably damaging |
1.00 |
IGL01354:Chl1
|
APN |
6 |
103665853 |
missense |
probably benign |
0.01 |
IGL01367:Chl1
|
APN |
6 |
103729225 |
missense |
probably benign |
0.42 |
IGL01371:Chl1
|
APN |
6 |
103715364 |
missense |
probably damaging |
1.00 |
IGL01599:Chl1
|
APN |
6 |
103708484 |
missense |
probably benign |
0.34 |
IGL01724:Chl1
|
APN |
6 |
103649573 |
missense |
probably damaging |
1.00 |
IGL02001:Chl1
|
APN |
6 |
103642056 |
missense |
possibly damaging |
0.90 |
IGL02066:Chl1
|
APN |
6 |
103698224 |
missense |
probably benign |
0.39 |
IGL02122:Chl1
|
APN |
6 |
103675137 |
missense |
probably benign |
0.39 |
IGL02340:Chl1
|
APN |
6 |
103698125 |
missense |
probably damaging |
1.00 |
IGL02420:Chl1
|
APN |
6 |
103715369 |
missense |
probably damaging |
1.00 |
IGL02421:Chl1
|
APN |
6 |
103717580 |
missense |
probably damaging |
1.00 |
IGL02429:Chl1
|
APN |
6 |
103664809 |
unclassified |
probably benign |
|
IGL02825:Chl1
|
APN |
6 |
103668803 |
missense |
possibly damaging |
0.87 |
IGL02858:Chl1
|
APN |
6 |
103641988 |
missense |
probably damaging |
1.00 |
IGL03169:Chl1
|
APN |
6 |
103665967 |
missense |
probably damaging |
1.00 |
IGL03185:Chl1
|
APN |
6 |
103665863 |
missense |
probably damaging |
1.00 |
IGL03189:Chl1
|
APN |
6 |
103683207 |
missense |
possibly damaging |
0.91 |
IGL03288:Chl1
|
APN |
6 |
103675097 |
missense |
probably damaging |
1.00 |
IGL03404:Chl1
|
APN |
6 |
103693091 |
missense |
probably damaging |
1.00 |
IGL03052:Chl1
|
UTSW |
6 |
103691667 |
missense |
probably benign |
0.01 |
R0060:Chl1
|
UTSW |
6 |
103711058 |
splice site |
probably benign |
|
R0060:Chl1
|
UTSW |
6 |
103711058 |
splice site |
probably benign |
|
R0062:Chl1
|
UTSW |
6 |
103749652 |
missense |
unknown |
|
R0314:Chl1
|
UTSW |
6 |
103647301 |
missense |
probably damaging |
1.00 |
R0322:Chl1
|
UTSW |
6 |
103701883 |
splice site |
probably benign |
|
R0685:Chl1
|
UTSW |
6 |
103708542 |
splice site |
probably null |
|
R1056:Chl1
|
UTSW |
6 |
103675077 |
missense |
possibly damaging |
0.66 |
R1138:Chl1
|
UTSW |
6 |
103693179 |
missense |
probably benign |
0.05 |
R1483:Chl1
|
UTSW |
6 |
103647287 |
missense |
probably damaging |
1.00 |
R1571:Chl1
|
UTSW |
6 |
103708484 |
missense |
probably benign |
0.34 |
R1620:Chl1
|
UTSW |
6 |
103690242 |
missense |
probably benign |
0.00 |
R1645:Chl1
|
UTSW |
6 |
103683180 |
missense |
probably benign |
0.06 |
R1773:Chl1
|
UTSW |
6 |
103647331 |
critical splice donor site |
probably null |
|
R1852:Chl1
|
UTSW |
6 |
103699159 |
splice site |
probably null |
|
R1891:Chl1
|
UTSW |
6 |
103714583 |
missense |
possibly damaging |
0.88 |
R2146:Chl1
|
UTSW |
6 |
103715401 |
critical splice donor site |
probably null |
|
R2147:Chl1
|
UTSW |
6 |
103715401 |
critical splice donor site |
probably null |
|
R2148:Chl1
|
UTSW |
6 |
103715401 |
critical splice donor site |
probably null |
|
R2163:Chl1
|
UTSW |
6 |
103711231 |
missense |
probably damaging |
1.00 |
R2291:Chl1
|
UTSW |
6 |
103715393 |
missense |
probably damaging |
1.00 |
R2920:Chl1
|
UTSW |
6 |
103695343 |
missense |
probably damaging |
1.00 |
R3611:Chl1
|
UTSW |
6 |
103698155 |
missense |
probably damaging |
1.00 |
R3979:Chl1
|
UTSW |
6 |
103715284 |
nonsense |
probably null |
|
R4987:Chl1
|
UTSW |
6 |
103674977 |
missense |
probably damaging |
1.00 |
R5266:Chl1
|
UTSW |
6 |
103700543 |
missense |
probably damaging |
1.00 |
R5478:Chl1
|
UTSW |
6 |
103683221 |
missense |
probably damaging |
1.00 |
R5523:Chl1
|
UTSW |
6 |
103708714 |
missense |
probably damaging |
1.00 |
R5887:Chl1
|
UTSW |
6 |
103717604 |
missense |
probably benign |
0.00 |
R5986:Chl1
|
UTSW |
6 |
103709191 |
missense |
probably benign |
0.45 |
R6101:Chl1
|
UTSW |
6 |
103693032 |
missense |
probably damaging |
0.96 |
R6179:Chl1
|
UTSW |
6 |
103683243 |
missense |
probably benign |
0.38 |
R6366:Chl1
|
UTSW |
6 |
103729236 |
missense |
possibly damaging |
0.95 |
R6634:Chl1
|
UTSW |
6 |
103690259 |
missense |
probably damaging |
1.00 |
R6824:Chl1
|
UTSW |
6 |
103714549 |
missense |
probably damaging |
1.00 |
R6913:Chl1
|
UTSW |
6 |
103665948 |
nonsense |
probably null |
|
R7097:Chl1
|
UTSW |
6 |
103706448 |
missense |
probably damaging |
1.00 |
R7122:Chl1
|
UTSW |
6 |
103706448 |
missense |
probably damaging |
1.00 |
R7198:Chl1
|
UTSW |
6 |
103706556 |
missense |
probably damaging |
1.00 |
R7203:Chl1
|
UTSW |
6 |
103691674 |
missense |
probably benign |
0.13 |
R7527:Chl1
|
UTSW |
6 |
103711201 |
missense |
probably damaging |
1.00 |
R7625:Chl1
|
UTSW |
6 |
103729125 |
missense |
probably damaging |
1.00 |
R7667:Chl1
|
UTSW |
6 |
103695495 |
missense |
possibly damaging |
0.82 |
R7683:Chl1
|
UTSW |
6 |
103691652 |
missense |
possibly damaging |
0.72 |
R7712:Chl1
|
UTSW |
6 |
103711102 |
missense |
possibly damaging |
0.94 |
R7838:Chl1
|
UTSW |
6 |
103691674 |
missense |
probably benign |
0.01 |
R7863:Chl1
|
UTSW |
6 |
103706514 |
missense |
possibly damaging |
0.46 |
R7874:Chl1
|
UTSW |
6 |
103690263 |
missense |
probably benign |
0.22 |
R7998:Chl1
|
UTSW |
6 |
103729289 |
missense |
probably benign |
0.01 |
R8044:Chl1
|
UTSW |
6 |
103706632 |
missense |
probably damaging |
0.96 |
R8059:Chl1
|
UTSW |
6 |
103674987 |
missense |
probably damaging |
0.97 |
R8462:Chl1
|
UTSW |
6 |
103729169 |
missense |
probably benign |
0.11 |
Z1177:Chl1
|
UTSW |
6 |
103693096 |
nonsense |
probably null |
|
Z1177:Chl1
|
UTSW |
6 |
103697949 |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTACAAAGTGAGCTGGAAGCCCC -3'
(R):5'- TCCTTGAGTCTTGTGATGAAGACAGGT -3'
Sequencing Primer
(F):5'- CTGGAAGCCCCAGGGAG -3'
(R):5'- CTCTTTGCAAGTAGTATGTACGCC -3'
|
Posted On | 2013-07-30 |