Incidental Mutation 'R1815:Cntn1'
| ID |
202671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn1
|
| Ensembl Gene |
ENSMUSG00000055022 |
| Gene Name |
contactin 1 |
| Synonyms |
F3cam, usl, CNTN |
| MMRRC Submission |
039843-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1815 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92148829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 359
(I359F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
| AlphaFold |
P12960 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000109
AA Change: I359F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: I359F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
|
IG
|
143 |
232 |
1.25e-4 |
SMART |
|
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
|
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
|
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
|
IG
|
511 |
603 |
3.51e-8 |
SMART |
|
FN3
|
606 |
692 |
6.69e-12 |
SMART |
|
FN3
|
709 |
795 |
1.17e-2 |
SMART |
|
FN3
|
811 |
892 |
1.16e-6 |
SMART |
|
FN3
|
907 |
987 |
2.46e-1 |
SMART |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068378
AA Change: I359F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: I359F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
|
IG
|
143 |
232 |
1.25e-4 |
SMART |
|
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
|
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
|
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
|
IG
|
511 |
603 |
3.51e-8 |
SMART |
|
FN3
|
606 |
692 |
6.69e-12 |
SMART |
|
FN3
|
709 |
795 |
1.17e-2 |
SMART |
|
FN3
|
811 |
892 |
1.16e-6 |
SMART |
|
FN3
|
907 |
987 |
2.46e-1 |
SMART |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169825
AA Change: I359F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: I359F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
|
IG
|
143 |
232 |
1.25e-4 |
SMART |
|
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
|
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
|
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
|
IG
|
511 |
603 |
3.51e-8 |
SMART |
|
FN3
|
606 |
692 |
6.69e-12 |
SMART |
|
FN3
|
709 |
795 |
1.17e-2 |
SMART |
|
FN3
|
811 |
892 |
1.16e-6 |
SMART |
|
FN3
|
907 |
987 |
2.46e-1 |
SMART |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 90.5%
|
| 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 immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
A |
G |
1: 171,083,905 (GRCm39) |
T492A |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,548,643 (GRCm39) |
L529* |
probably null |
Het |
| Ak9 |
A |
G |
10: 41,213,572 (GRCm39) |
E259G |
probably damaging |
Het |
| Apol11b |
T |
A |
15: 77,519,772 (GRCm39) |
I103F |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,501,667 (GRCm39) |
M864V |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,324,073 (GRCm39) |
L60P |
probably damaging |
Het |
| Begain |
T |
C |
12: 109,000,033 (GRCm39) |
Y451C |
probably damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,586,124 (GRCm39) |
I46N |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,360,742 (GRCm39) |
K1242M |
probably damaging |
Het |
| Calcoco1 |
A |
G |
15: 102,622,358 (GRCm39) |
L254P |
probably damaging |
Het |
| Ccdc112 |
A |
T |
18: 46,424,173 (GRCm39) |
N188K |
possibly damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,901,774 (GRCm39) |
V132A |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,853,369 (GRCm39) |
C130R |
probably damaging |
Het |
| Cep295nl |
G |
T |
11: 118,223,474 (GRCm39) |
R457S |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,939,606 (GRCm39) |
V435A |
probably damaging |
Het |
| Csnka2ip |
A |
G |
16: 64,298,855 (GRCm39) |
V59A |
probably benign |
Het |
| Ddr2 |
A |
T |
1: 169,823,170 (GRCm39) |
Y371* |
probably null |
Het |
| Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,366,400 (GRCm39) |
I1901V |
probably damaging |
Het |
| Fanci |
T |
A |
7: 79,088,056 (GRCm39) |
I903N |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,529 (GRCm39) |
Q471R |
probably damaging |
Het |
| Flvcr1 |
A |
T |
1: 190,757,577 (GRCm39) |
N238K |
probably damaging |
Het |
| Gsdmc3 |
A |
T |
15: 63,740,965 (GRCm39) |
L61H |
probably damaging |
Het |
| H2-M10.5 |
T |
A |
17: 37,084,836 (GRCm39) |
C187S |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,283,055 (GRCm39) |
I1977T |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,260,914 (GRCm39) |
I905F |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,590,585 (GRCm39) |
G506D |
probably damaging |
Het |
| Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,271,800 (GRCm39) |
E894G |
probably damaging |
Het |
| Klra7 |
T |
C |
6: 130,201,070 (GRCm39) |
I229V |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,565 (GRCm39) |
T150A |
probably benign |
Het |
| Krtap20-1 |
T |
C |
16: 88,812,337 (GRCm39) |
|
probably benign |
Het |
| Lct |
T |
C |
1: 128,227,896 (GRCm39) |
Y1199C |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,724,642 (GRCm39) |
N75K |
possibly damaging |
Het |
| Lss |
T |
C |
10: 76,388,798 (GRCm39) |
S700P |
probably damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,559,375 (GRCm39) |
Q288L |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,012,109 (GRCm39) |
E653G |
probably damaging |
Het |
| Mphosph10 |
G |
T |
7: 64,041,918 (GRCm39) |
Q9K |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,561,603 (GRCm39) |
L13Q |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,134,602 (GRCm39) |
D18G |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,839,101 (GRCm39) |
Y127C |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
| Or8g18 |
T |
C |
9: 39,149,286 (GRCm39) |
I145V |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,366,618 (GRCm39) |
Y28* |
probably null |
Het |
| Pdcd2l |
G |
A |
7: 33,885,826 (GRCm39) |
T286I |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
| Phlpp2 |
C |
A |
8: 110,666,855 (GRCm39) |
T1128K |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,975,148 (GRCm39) |
V244A |
possibly damaging |
Het |
| Pld1 |
A |
G |
3: 28,163,917 (GRCm39) |
I783M |
probably benign |
Het |
| Plk5 |
T |
C |
10: 80,199,855 (GRCm39) |
V454A |
probably benign |
Het |
| Prkci |
T |
C |
3: 31,092,644 (GRCm39) |
S309P |
probably damaging |
Het |
| Prx |
A |
T |
7: 27,216,090 (GRCm39) |
D197V |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,728,589 (GRCm39) |
L537P |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,698,867 (GRCm39) |
N1121K |
probably benign |
Het |
| Rock2 |
T |
A |
12: 17,022,727 (GRCm39) |
D1055E |
probably benign |
Het |
| Rrp1b |
T |
C |
17: 32,275,785 (GRCm39) |
V444A |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGACGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| S1pr2 |
G |
A |
9: 20,879,388 (GRCm39) |
R147* |
probably null |
Het |
| Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,344,602 (GRCm39) |
|
probably null |
Het |
| Srsf11 |
C |
T |
3: 157,722,064 (GRCm39) |
|
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,260,264 (GRCm39) |
F296L |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,427,081 (GRCm39) |
I356L |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,136,705 (GRCm39) |
I2348T |
probably damaging |
Het |
| Tmed11 |
T |
A |
5: 108,925,291 (GRCm39) |
I174L |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,838,931 (GRCm39) |
Q504* |
probably null |
Het |
| Unc5c |
A |
T |
3: 141,463,518 (GRCm39) |
D213V |
probably damaging |
Het |
| Utp25 |
A |
C |
1: 192,800,591 (GRCm39) |
S410A |
probably benign |
Het |
| Vgll4 |
T |
C |
6: 114,841,020 (GRCm39) |
D92G |
probably benign |
Het |
| Vps37a |
T |
C |
8: 40,965,162 (GRCm39) |
F5L |
probably benign |
Het |
| Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,898 (GRCm39) |
C803Y |
probably damaging |
Het |
| Zmym1 |
T |
C |
4: 126,942,814 (GRCm39) |
T427A |
possibly damaging |
Het |
|
| Other mutations in Cntn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Cntn1
|
APN |
15 |
92,148,758 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01109:Cntn1
|
APN |
15 |
92,237,458 (GRCm39) |
nonsense |
probably null |
|
|
IGL01399:Cntn1
|
APN |
15 |
92,203,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01714:Cntn1
|
APN |
15 |
92,151,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL02052:Cntn1
|
APN |
15 |
92,189,584 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02342:Cntn1
|
APN |
15 |
92,143,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02507:Cntn1
|
APN |
15 |
92,148,860 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02511:Cntn1
|
APN |
15 |
92,114,266 (GRCm39) |
start gained |
probably benign |
|
|
IGL02702:Cntn1
|
APN |
15 |
92,189,482 (GRCm39) |
splice site |
probably benign |
|
|
IGL02927:Cntn1
|
APN |
15 |
92,189,561 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02948:Cntn1
|
APN |
15 |
92,143,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0035:Cntn1
|
UTSW |
15 |
92,129,969 (GRCm39) |
splice site |
probably benign |
|
|
R0084:Cntn1
|
UTSW |
15 |
92,215,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0346:Cntn1
|
UTSW |
15 |
92,129,968 (GRCm39) |
splice site |
probably benign |
|
|
R0634:Cntn1
|
UTSW |
15 |
92,212,444 (GRCm39) |
nonsense |
probably null |
|
|
R1348:Cntn1
|
UTSW |
15 |
92,212,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Cntn1
|
UTSW |
15 |
92,143,871 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1793:Cntn1
|
UTSW |
15 |
92,189,552 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1851:Cntn1
|
UTSW |
15 |
92,203,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Cntn1
|
UTSW |
15 |
92,203,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Cntn1
|
UTSW |
15 |
92,215,943 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2269:Cntn1
|
UTSW |
15 |
92,192,863 (GRCm39) |
splice site |
probably benign |
|
|
R4394:Cntn1
|
UTSW |
15 |
92,189,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Cntn1
|
UTSW |
15 |
92,192,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Cntn1
|
UTSW |
15 |
92,202,972 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4944:Cntn1
|
UTSW |
15 |
92,126,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Cntn1
|
UTSW |
15 |
92,140,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Cntn1
|
UTSW |
15 |
92,237,430 (GRCm39) |
missense |
unknown |
|
|
R5314:Cntn1
|
UTSW |
15 |
92,192,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5445:Cntn1
|
UTSW |
15 |
92,192,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Cntn1
|
UTSW |
15 |
92,212,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6849:Cntn1
|
UTSW |
15 |
92,203,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6885:Cntn1
|
UTSW |
15 |
92,140,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7035:Cntn1
|
UTSW |
15 |
92,212,392 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7070:Cntn1
|
UTSW |
15 |
92,151,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Cntn1
|
UTSW |
15 |
92,143,833 (GRCm39) |
splice site |
probably null |
|
|
R7311:Cntn1
|
UTSW |
15 |
92,130,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7401:Cntn1
|
UTSW |
15 |
92,215,870 (GRCm39) |
missense |
probably benign |
|
|
R7484:Cntn1
|
UTSW |
15 |
92,151,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7492:Cntn1
|
UTSW |
15 |
92,212,423 (GRCm39) |
missense |
probably benign |
|
|
R7617:Cntn1
|
UTSW |
15 |
92,143,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Cntn1
|
UTSW |
15 |
92,207,890 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7878:Cntn1
|
UTSW |
15 |
92,192,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Cntn1
|
UTSW |
15 |
92,130,130 (GRCm39) |
missense |
probably benign |
|
|
R8454:Cntn1
|
UTSW |
15 |
92,130,130 (GRCm39) |
missense |
probably benign |
|
|
R8465:Cntn1
|
UTSW |
15 |
92,237,404 (GRCm39) |
frame shift |
probably null |
|
|
R8757:Cntn1
|
UTSW |
15 |
92,153,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8759:Cntn1
|
UTSW |
15 |
92,153,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8767:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Cntn1
|
UTSW |
15 |
92,159,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8972:Cntn1
|
UTSW |
15 |
92,150,278 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8993:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Cntn1
|
UTSW |
15 |
92,140,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Cntn1
|
UTSW |
15 |
92,144,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9493:Cntn1
|
UTSW |
15 |
92,189,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cntn1
|
UTSW |
15 |
92,207,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGCAGACACATCATATTGG -3'
(R):5'- AAACTTTATATGCCCCAGTACAGG -3'
Sequencing Primer
(F):5'- TTGGATGTATTCTCCAGAATAAAGC -3'
(R):5'- GACTTTTGGTATAGCATTGGAAATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation