Incidental Mutation 'R5478:Chl1'
| ID |
434158 |
| 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 |
043039-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.524)
|
| Stock # |
R5478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
103487372-103709999 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103660182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 353
(E353D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066905]
[ENSMUST00000203830]
[ENSMUST00000203912]
|
| AlphaFold |
P70232 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066905
AA Change: E353D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063933
Gene: ENSMUSG00000030077
AA Change: E353D
| 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: E353D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144758
Gene: ENSMUSG00000030077
AA Change: E353D
| 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: E369D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145026
Gene: ENSMUSG00000030077
AA Change: E369D
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (63/64) |
| 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 |
|---|
| Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
| Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
| Apba2 |
T |
A |
7: 64,344,934 (GRCm39) |
Y41* |
probably null |
Het |
| BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
| Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
| Capn3 |
A |
G |
2: 120,294,666 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,790 (GRCm39) |
V280I |
possibly damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
| Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
| Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
| Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
| Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
| Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,478,795 (GRCm39) |
N472K |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
| Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,741,276 (GRCm39) |
D503G |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,966,050 (GRCm39) |
V536A |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,193 (GRCm39) |
|
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 |
|
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 |
|
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'- CCACAGTTGCTATGGAATACTTGG -3'
(R):5'- CTGGCACTGTATTATGCTAACAC -3'
Sequencing Primer
(F):5'- AATACTTGGTAGTGTCTGCCC -3'
(R):5'- CAGCCCAGCCCATCTACTTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation