Incidental Mutation 'IGL03396:Tcam1'
| ID |
421260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcam1
|
| Ensembl Gene |
ENSMUSG00000020712 |
| Gene Name |
testicular cell adhesion molecule 1 |
| Synonyms |
4930570F09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106167498-106179571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106176212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 313
(I313V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044462]
[ENSMUST00000142472]
|
| AlphaFold |
Q99NB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044462
AA Change: I313V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044757
Gene: ENSMUSG00000020712
AA Change: I313V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
22 |
112 |
5.4e-30 |
PFAM |
|
IG_like
|
117 |
214 |
1.66e2 |
SMART |
|
IG_like
|
316 |
397 |
5.04e1 |
SMART |
|
IG
|
408 |
478 |
2.79e0 |
SMART |
|
transmembrane domain
|
488 |
510 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142472
AA Change: I313V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115544
Gene: ENSMUSG00000020712
AA Change: I313V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
22 |
112 |
3.2e-30 |
PFAM |
|
Pfam:Ig_2
|
109 |
214 |
1.7e-2 |
PFAM |
|
Pfam:Ig_2
|
311 |
396 |
5.1e-3 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,239 (GRCm39) |
R457* |
probably null |
Het |
| Arl5b |
C |
A |
2: 15,079,915 (GRCm39) |
T153K |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,075,825 (GRCm39) |
Y436F |
probably benign |
Het |
| Azgp1 |
C |
T |
5: 137,983,445 (GRCm39) |
P40L |
possibly damaging |
Het |
| B020004C17Rik |
A |
G |
14: 57,253,993 (GRCm39) |
T39A |
possibly damaging |
Het |
| Cacna2d3 |
G |
A |
14: 29,442,834 (GRCm39) |
Q67* |
probably null |
Het |
| Cdcp2 |
C |
A |
4: 106,964,369 (GRCm39) |
Y406* |
probably null |
Het |
| Cep89 |
T |
A |
7: 35,128,603 (GRCm39) |
D585E |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,801 (GRCm39) |
F1570S |
probably damaging |
Het |
| Cnfn |
A |
G |
7: 25,067,783 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
| Fra10ac1 |
C |
T |
19: 38,189,994 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
T |
C |
11: 102,691,353 (GRCm39) |
K217E |
probably benign |
Het |
| Il20rb |
T |
C |
9: 100,341,251 (GRCm39) |
E285G |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,732,077 (GRCm39) |
L208H |
probably damaging |
Het |
| Lilrb4b |
A |
G |
10: 51,357,253 (GRCm39) |
I30V |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,111,016 (GRCm39) |
N81S |
probably damaging |
Het |
| Mettl21e |
A |
T |
1: 44,245,759 (GRCm39) |
N162K |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,808,132 (GRCm39) |
S299P |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,404 (GRCm39) |
L3046P |
probably benign |
Het |
| Or1j14 |
C |
A |
2: 36,417,692 (GRCm39) |
S89R |
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,184 (GRCm39) |
V77E |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
| Pnpla8 |
G |
A |
12: 44,330,309 (GRCm39) |
R287H |
probably benign |
Het |
| Pot1a |
A |
C |
6: 25,745,913 (GRCm39) |
I596R |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,131 (GRCm39) |
D329G |
probably damaging |
Het |
| Ptprr |
T |
G |
10: 116,024,235 (GRCm39) |
V182G |
probably damaging |
Het |
| Rrp1b |
T |
A |
17: 32,276,237 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,318,840 (GRCm39) |
Y494C |
probably damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,019,301 (GRCm39) |
I360N |
probably damaging |
Het |
| Snrpb2 |
T |
C |
2: 142,913,377 (GRCm39) |
F194L |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,143,882 (GRCm39) |
N238S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,901,729 (GRCm39) |
V498A |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,706,585 (GRCm39) |
S472P |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,290,107 (GRCm39) |
T548S |
possibly damaging |
Het |
| Zfp429 |
A |
T |
13: 67,544,159 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tcam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03189:Tcam1
|
APN |
11 |
106,176,212 (GRCm39) |
missense |
probably benign |
|
|
IGL03397:Tcam1
|
APN |
11 |
106,176,212 (GRCm39) |
missense |
probably benign |
|
|
R0241:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0241:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0306:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0313:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0378:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0380:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0381:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0382:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0393:Tcam1
|
UTSW |
11 |
106,175,040 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0401:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0448:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0537:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0602:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0669:Tcam1
|
UTSW |
11 |
106,176,252 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0706:Tcam1
|
UTSW |
11 |
106,174,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2307:Tcam1
|
UTSW |
11 |
106,174,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Tcam1
|
UTSW |
11 |
106,173,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Tcam1
|
UTSW |
11 |
106,176,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5269:Tcam1
|
UTSW |
11 |
106,176,353 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5437:Tcam1
|
UTSW |
11 |
106,176,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Tcam1
|
UTSW |
11 |
106,174,880 (GRCm39) |
nonsense |
probably null |
|
|
R6248:Tcam1
|
UTSW |
11 |
106,173,652 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6302:Tcam1
|
UTSW |
11 |
106,177,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Tcam1
|
UTSW |
11 |
106,174,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Tcam1
|
UTSW |
11 |
106,177,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8402:Tcam1
|
UTSW |
11 |
106,177,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8751:Tcam1
|
UTSW |
11 |
106,176,443 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8801:Tcam1
|
UTSW |
11 |
106,173,618 (GRCm39) |
missense |
probably benign |
|
|
R9228:Tcam1
|
UTSW |
11 |
106,177,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Tcam1
|
UTSW |
11 |
106,175,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9621:Tcam1
|
UTSW |
11 |
106,176,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tcam1
|
UTSW |
11 |
106,173,676 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1177:Tcam1
|
UTSW |
11 |
106,173,673 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation