Incidental Mutation 'IGL03397:Tcam1'
ID |
421300 |
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 # |
IGL03397
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,772,743 (GRCm39) |
Y51F |
probably benign |
Het |
Ankrd42 |
G |
A |
7: 92,268,762 (GRCm39) |
L194F |
probably damaging |
Het |
Ccdc81 |
G |
T |
7: 89,546,036 (GRCm39) |
T56N |
probably damaging |
Het |
Cdh10 |
T |
C |
15: 18,964,114 (GRCm39) |
I92T |
probably damaging |
Het |
Csta3 |
A |
T |
16: 36,033,984 (GRCm39) |
I55F |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
Epb41l3 |
A |
G |
17: 69,555,687 (GRCm39) |
Y304C |
probably damaging |
Het |
Gm10244 |
A |
G |
6: 39,397,740 (GRCm39) |
|
probably benign |
Het |
H2bc14 |
T |
C |
13: 21,906,551 (GRCm39) |
I95T |
possibly damaging |
Het |
Lrrc74a |
T |
C |
12: 86,805,312 (GRCm39) |
V378A |
probably benign |
Het |
Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,909,025 (GRCm39) |
L96P |
probably damaging |
Het |
Nlrp5 |
G |
A |
7: 23,112,759 (GRCm39) |
V139M |
probably damaging |
Het |
Nrcam |
T |
G |
12: 44,606,540 (GRCm39) |
S429A |
probably damaging |
Het |
Or5an11 |
C |
A |
19: 12,245,866 (GRCm39) |
Q91K |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,212,753 (GRCm39) |
T886S |
probably benign |
Het |
Rapgef5 |
T |
A |
12: 117,712,176 (GRCm39) |
F754L |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,924 (GRCm39) |
K1863R |
probably damaging |
Het |
Sis |
T |
C |
3: 72,843,212 (GRCm39) |
T751A |
probably benign |
Het |
Six3 |
G |
T |
17: 85,929,074 (GRCm39) |
R136L |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,334,004 (GRCm39) |
D280G |
probably damaging |
Het |
Sox2 |
A |
G |
3: 34,704,686 (GRCm39) |
D41G |
probably damaging |
Het |
Stxbp4 |
A |
T |
11: 90,431,060 (GRCm39) |
L417M |
probably damaging |
Het |
Tex55 |
G |
A |
16: 38,649,055 (GRCm39) |
P18L |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,962,178 (GRCm39) |
Y547C |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,523,901 (GRCm39) |
R312G |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,678,394 (GRCm39) |
|
probably benign |
Het |
Usp39 |
A |
G |
6: 72,313,296 (GRCm39) |
M298T |
possibly damaging |
Het |
Vmn2r85 |
C |
T |
10: 130,261,263 (GRCm39) |
C358Y |
probably damaging |
Het |
Zscan18 |
A |
T |
7: 12,507,488 (GRCm39) |
S497T |
probably damaging |
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 |
|
IGL03396: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 |