Incidental Mutation 'R9438:Cntn1'
| ID |
713404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn1
|
| Ensembl Gene |
ENSMUSG00000055022 |
| Gene Name |
contactin 1 |
| Synonyms |
F3cam, usl, CNTN |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 92144024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
| AlphaFold |
P12960 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000109
|
| SMART Domains |
Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
| 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
|
| SMART Domains |
Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
| 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: ENSMUST00000169825
|
| SMART Domains |
Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
G |
A |
2: 91,033,339 (GRCm39) |
M20I |
probably benign |
Het |
| Adgra1 |
C |
T |
7: 139,432,525 (GRCm39) |
P121L |
probably benign |
Het |
| Arhgap39 |
C |
A |
15: 76,636,118 (GRCm39) |
R39L |
probably damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,215,631 (GRCm39) |
N261K |
possibly damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,361,409 (GRCm39) |
A838T |
probably damaging |
Het |
| Cacng8 |
G |
A |
7: 3,463,919 (GRCm39) |
S357N |
unknown |
Het |
| Calhm5 |
T |
C |
10: 33,972,049 (GRCm39) |
M129V |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Cdk19 |
T |
A |
10: 40,352,176 (GRCm39) |
D319E |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,799,078 (GRCm39) |
S2336P |
probably benign |
Het |
| Cts6 |
G |
A |
13: 61,350,069 (GRCm39) |
T4I |
probably benign |
Het |
| Ddt |
A |
T |
10: 75,607,332 (GRCm39) |
I98N |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 38,026,443 (GRCm39) |
V465G |
unknown |
Het |
| Dnah2 |
G |
T |
11: 69,364,220 (GRCm39) |
D2064E |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,827,190 (GRCm39) |
N969D |
probably benign |
Het |
| Dot1l |
T |
A |
10: 80,627,120 (GRCm39) |
V1447E |
probably benign |
Het |
| Efs |
T |
A |
14: 55,156,868 (GRCm39) |
D389V |
|
Het |
| Gbp11 |
T |
A |
5: 105,474,471 (GRCm39) |
K402* |
probably null |
Het |
| Grm7 |
A |
T |
6: 111,231,077 (GRCm39) |
D500V |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,481,414 (GRCm39) |
M439V |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,754,434 (GRCm39) |
S551P |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,243,839 (GRCm39) |
S779P |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,068,166 (GRCm39) |
N2437S |
probably benign |
Het |
| Kbtbd12 |
G |
A |
6: 88,591,040 (GRCm39) |
Q391* |
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,417,653 (GRCm39) |
I859V |
probably benign |
Het |
| Klri1 |
A |
C |
6: 129,675,879 (GRCm39) |
D130E |
probably benign |
Het |
| Krt9 |
A |
G |
11: 100,079,824 (GRCm39) |
Y523H |
unknown |
Het |
| Ldhc |
G |
T |
7: 46,515,857 (GRCm39) |
V51F |
possibly damaging |
Het |
| Macf1 |
G |
T |
4: 123,279,366 (GRCm39) |
D5890E |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,045,952 (GRCm39) |
S613G |
probably damaging |
Het |
| Mrpl55 |
A |
G |
11: 59,096,581 (GRCm39) |
D118G |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,559,028 (GRCm39) |
T2422A |
unknown |
Het |
| Nfkbib |
T |
A |
7: 28,459,654 (GRCm39) |
D219V |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,632 (GRCm39) |
K50E |
probably damaging |
Het |
| Nudcd1 |
C |
T |
15: 44,269,321 (GRCm39) |
R113H |
probably benign |
Het |
| Or5p55 |
A |
T |
7: 107,567,000 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or7e170 |
C |
T |
9: 19,795,083 (GRCm39) |
E173K |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,326 (GRCm39) |
C127* |
probably null |
Het |
| Papln |
A |
T |
12: 83,818,606 (GRCm39) |
T63S |
probably benign |
Het |
| Pax4 |
T |
C |
6: 28,446,185 (GRCm39) |
I103V |
possibly damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,269,342 (GRCm39) |
H427Y |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,193,867 (GRCm39) |
V52E |
probably damaging |
Het |
| Prr23a4 |
G |
A |
9: 98,785,833 (GRCm39) |
S166N |
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,364,226 (GRCm39) |
H600R |
unknown |
Het |
| Rbbp6 |
G |
A |
7: 122,599,456 (GRCm39) |
V1256I |
|
Het |
| Rexo1 |
T |
A |
10: 80,378,848 (GRCm39) |
T1063S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,265,574 (GRCm39) |
R387G |
possibly damaging |
Het |
| Rufy3 |
T |
C |
5: 88,796,124 (GRCm39) |
S603P |
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,285,944 (GRCm39) |
H330R |
unknown |
Het |
| Strc |
A |
T |
2: 121,198,647 (GRCm39) |
W1415R |
probably damaging |
Het |
| Tcstv5 |
A |
G |
13: 120,411,363 (GRCm39) |
L81P |
probably benign |
Het |
| Terf2 |
C |
A |
8: 107,803,504 (GRCm39) |
A359S |
probably benign |
Het |
| Tmod1 |
A |
G |
4: 46,093,958 (GRCm39) |
N223S |
probably damaging |
Het |
| Tram2 |
T |
A |
1: 21,075,834 (GRCm39) |
I195F |
possibly damaging |
Het |
| Trap1 |
T |
C |
16: 3,883,131 (GRCm39) |
Q148R |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,607,095 (GRCm39) |
R143* |
probably null |
Het |
| Ttc14 |
T |
A |
3: 33,858,861 (GRCm39) |
H373Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,747,748 (GRCm39) |
K4434E |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,522,833 (GRCm39) |
D347G |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,858,314 (GRCm39) |
E2170G |
|
Het |
| Xrn1 |
T |
C |
9: 95,893,287 (GRCm39) |
I1001T |
probably benign |
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 |
|
R1815:Cntn1
|
UTSW |
15 |
92,148,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TCAATGCGGATCGTGAGC -3'
(R):5'- CTTCATACTGACTATAACTCAGAGTTG -3'
Sequencing Primer
(F):5'- CAATGCGGATCGTGAGCTTTTATATC -3'
(R):5'- TCCAACCTAGCCGAATAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation