Incidental Mutation 'R1645:Chl1'
ID |
173811 |
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 |
039681-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.458)
|
Stock # |
R1645 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
103487372-103709999 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 103660141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 356
(A356S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066905]
[ENSMUST00000203830]
[ENSMUST00000203912]
|
AlphaFold |
P70232 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066905
AA Change: A340S
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000063933 Gene: ENSMUSG00000030077 AA Change: A340S
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: A340S
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144758 Gene: ENSMUSG00000030077 AA Change: A340S
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: A356S
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000145026 Gene: ENSMUSG00000030077 AA Change: A356S
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.2%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,948,926 (GRCm39) |
M1732V |
probably benign |
Het |
Acvr1 |
A |
T |
2: 58,352,911 (GRCm39) |
C350S |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,571,244 (GRCm39) |
V130D |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,500,166 (GRCm39) |
|
probably null |
Het |
Asap1 |
A |
T |
15: 63,961,324 (GRCm39) |
V1116E |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,229,087 (GRCm39) |
D308V |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,400,879 (GRCm39) |
H1468Y |
probably benign |
Het |
C2cd5 |
A |
G |
6: 142,995,852 (GRCm39) |
C421R |
probably damaging |
Het |
C4b |
A |
G |
17: 34,959,571 (GRCm39) |
S363P |
probably damaging |
Het |
Camk2b |
A |
T |
11: 5,922,719 (GRCm39) |
C484S |
probably damaging |
Het |
Cby2 |
C |
A |
14: 75,821,089 (GRCm39) |
R212L |
probably benign |
Het |
Ccny |
T |
C |
18: 9,345,199 (GRCm39) |
T192A |
probably damaging |
Het |
Dst |
T |
A |
1: 34,264,803 (GRCm39) |
Y4850N |
probably damaging |
Het |
Dyrk4 |
C |
A |
6: 126,871,756 (GRCm39) |
E171* |
probably null |
Het |
Entrep3 |
C |
A |
3: 89,094,154 (GRCm39) |
D322E |
possibly damaging |
Het |
Ephb1 |
A |
G |
9: 101,804,758 (GRCm39) |
Y928H |
probably damaging |
Het |
Fam114a2 |
A |
T |
11: 57,390,621 (GRCm39) |
N304K |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,848,445 (GRCm39) |
D1820V |
possibly damaging |
Het |
Gabbr2 |
A |
T |
4: 46,664,963 (GRCm39) |
|
probably null |
Het |
Gm6358 |
T |
C |
16: 88,937,967 (GRCm39) |
W69R |
unknown |
Het |
Ikbkb |
C |
A |
8: 23,181,082 (GRCm39) |
S127I |
probably damaging |
Het |
Impa1 |
A |
T |
3: 10,393,501 (GRCm39) |
M48K |
possibly damaging |
Het |
Klra2 |
A |
T |
6: 131,220,857 (GRCm39) |
|
probably null |
Het |
Lama1 |
A |
T |
17: 68,044,677 (GRCm39) |
Y192F |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,244,981 (GRCm39) |
T267S |
probably damaging |
Het |
Mroh7 |
G |
A |
4: 106,577,865 (GRCm39) |
T271I |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,775,622 (GRCm39) |
E348G |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,824,283 (GRCm39) |
P796L |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or10al4 |
A |
T |
17: 38,037,229 (GRCm39) |
T114S |
probably benign |
Het |
Or51i1 |
A |
G |
7: 103,671,210 (GRCm39) |
F105S |
probably damaging |
Het |
Or9k7 |
T |
A |
10: 130,046,081 (GRCm39) |
D306V |
probably damaging |
Het |
P3h2 |
T |
A |
16: 25,815,982 (GRCm39) |
H177L |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,423 (GRCm39) |
I461T |
probably benign |
Het |
Pdlim3 |
A |
G |
8: 46,349,785 (GRCm39) |
I32V |
probably benign |
Het |
Pigu |
A |
C |
2: 155,170,598 (GRCm39) |
Y143* |
probably null |
Het |
Prkd3 |
A |
C |
17: 79,263,949 (GRCm39) |
|
probably null |
Het |
Psrc1 |
C |
T |
3: 108,292,554 (GRCm39) |
R116W |
probably damaging |
Het |
Rab5b |
A |
G |
10: 128,522,695 (GRCm39) |
S29P |
possibly damaging |
Het |
Rbm26 |
A |
G |
14: 105,388,253 (GRCm39) |
V403A |
probably damaging |
Het |
Rbm47 |
G |
T |
5: 66,184,481 (GRCm39) |
R41S |
probably benign |
Het |
Rngtt |
A |
G |
4: 33,362,939 (GRCm39) |
I364M |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,733,368 (GRCm39) |
C2271* |
probably null |
Het |
Shcbp1 |
T |
A |
8: 4,799,645 (GRCm39) |
Q277L |
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,874,155 (GRCm39) |
T5A |
probably benign |
Het |
Snx24 |
T |
C |
18: 53,522,634 (GRCm39) |
F163S |
probably benign |
Het |
Srp72 |
T |
C |
5: 77,146,125 (GRCm39) |
V581A |
probably benign |
Het |
Srrt |
T |
A |
5: 137,300,401 (GRCm39) |
K59* |
probably null |
Het |
Tnrc6b |
A |
G |
15: 80,767,159 (GRCm39) |
T975A |
probably damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,777 (GRCm39) |
V148I |
possibly damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,192 (GRCm39) |
C360S |
possibly damaging |
Het |
Vwa8 |
A |
T |
14: 79,420,427 (GRCm39) |
Q1709H |
probably damaging |
Het |
Wdr11 |
A |
G |
7: 129,215,613 (GRCm39) |
T526A |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,820,335 (GRCm39) |
N973K |
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 |
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 |
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'- AAATGAGTTCCCATCTGCTTAGCCC -3'
(R):5'- TGTATTATGCTAACACAGCCCAGCC -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TCCCCAAACTGTGATCAGATGTG -3'
|
Posted On |
2014-04-24 |