Incidental Mutation 'R2307:Tcam1'
ID |
244645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcam1
|
Ensembl Gene |
ENSMUSG00000020712 |
Gene Name |
testicular cell adhesion molecule 1 |
Synonyms |
4930570F09Rik |
MMRRC Submission |
040306-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2307 (G1)
|
Quality Score |
190 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
106167498-106179571 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106174940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 132
(C132R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044462]
[ENSMUST00000142472]
|
AlphaFold |
Q99NB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044462
AA Change: C132R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044757 Gene: ENSMUSG00000020712 AA Change: C132R
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 damaging
Transcript: ENSMUST00000142472
AA Change: C132R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115544 Gene: ENSMUSG00000020712 AA Change: C132R
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 |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
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 |
|
IGL03396: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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAACTCATCTCCGAAGCTTTGAGG -3'
(R):5'- CTGAGCTGCCGTGAAACAAC -3'
Sequencing Primer
(F):5'- ATCTCCGAAGCTTTGAGGGTCAC -3'
(R):5'- CATGTGGGCTCAGATCCAGTTC -3'
|
Posted On |
2014-10-30 |