Incidental Mutation 'R7517:Tgm3'
| ID |
582507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm3
|
| Ensembl Gene |
ENSMUSG00000027401 |
| Gene Name |
transglutaminase 3, E polypeptide |
| Synonyms |
we, TG E |
| MMRRC Submission |
045590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
129854269-129892319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 129883684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 447
(S447R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110299]
|
| AlphaFold |
Q08189 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110299
AA Change: S447R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: S447R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transglut_N
|
5 |
118 |
8.3e-33 |
PFAM |
|
TGc
|
265 |
357 |
6.4e-39 |
SMART |
|
Pfam:Transglut_C
|
483 |
588 |
3.9e-26 |
PFAM |
|
Pfam:Transglut_C
|
595 |
693 |
4.9e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
| Asph |
A |
T |
4: 9,517,697 (GRCm39) |
V475E |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
| Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
| Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
| Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
| Ddx21 |
G |
A |
10: 62,424,569 (GRCm39) |
P544L |
probably damaging |
Het |
| Epas1 |
C |
A |
17: 87,138,526 (GRCm39) |
T874N |
possibly damaging |
Het |
| Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
| Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
| Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,265,059 (GRCm39) |
T674A |
probably benign |
Het |
| Hnrnph3 |
A |
G |
10: 62,854,674 (GRCm39) |
L39S |
unknown |
Het |
| Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
| Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
| Lrrc26 |
T |
C |
2: 25,180,545 (GRCm39) |
I182T |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
| Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
| Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,088,072 (GRCm39) |
*1162K |
probably null |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
| Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
| Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
| Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
| Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
| Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
| Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
| Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
Het |
|
| Other mutations in Tgm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Tgm3
|
APN |
2 |
129,880,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00924:Tgm3
|
APN |
2 |
129,880,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01469:Tgm3
|
APN |
2 |
129,866,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01722:Tgm3
|
APN |
2 |
129,886,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01787:Tgm3
|
APN |
2 |
129,889,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02269:Tgm3
|
APN |
2 |
129,866,438 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02437:Tgm3
|
APN |
2 |
129,871,961 (GRCm39) |
splice site |
probably null |
|
|
IGL02449:Tgm3
|
APN |
2 |
129,880,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02992:Tgm3
|
APN |
2 |
129,883,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tortellini
|
UTSW |
2 |
129,866,505 (GRCm39) |
critical splice donor site |
probably benign |
|
|
ANU74:Tgm3
|
UTSW |
2 |
129,890,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Tgm3
|
UTSW |
2 |
129,886,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0833:Tgm3
|
UTSW |
2 |
129,868,602 (GRCm39) |
splice site |
probably benign |
|
|
R0834:Tgm3
|
UTSW |
2 |
129,868,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0836:Tgm3
|
UTSW |
2 |
129,868,602 (GRCm39) |
splice site |
probably benign |
|
|
R0940:Tgm3
|
UTSW |
2 |
129,854,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1354:Tgm3
|
UTSW |
2 |
129,883,818 (GRCm39) |
missense |
probably benign |
|
|
R1642:Tgm3
|
UTSW |
2 |
129,889,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Tgm3
|
UTSW |
2 |
129,883,688 (GRCm39) |
nonsense |
probably null |
|
|
R1715:Tgm3
|
UTSW |
2 |
129,868,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1944:Tgm3
|
UTSW |
2 |
129,871,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2104:Tgm3
|
UTSW |
2 |
129,879,403 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3416:Tgm3
|
UTSW |
2 |
129,889,692 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3417:Tgm3
|
UTSW |
2 |
129,889,692 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4231:Tgm3
|
UTSW |
2 |
129,886,509 (GRCm39) |
nonsense |
probably null |
|
|
R4296:Tgm3
|
UTSW |
2 |
129,880,333 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4794:Tgm3
|
UTSW |
2 |
129,883,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4948:Tgm3
|
UTSW |
2 |
129,890,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5034:Tgm3
|
UTSW |
2 |
129,879,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5144:Tgm3
|
UTSW |
2 |
129,890,202 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5786:Tgm3
|
UTSW |
2 |
129,868,704 (GRCm39) |
nonsense |
probably null |
|
|
R6030:Tgm3
|
UTSW |
2 |
129,883,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Tgm3
|
UTSW |
2 |
129,883,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Tgm3
|
UTSW |
2 |
129,867,221 (GRCm39) |
nonsense |
probably null |
|
|
R6219:Tgm3
|
UTSW |
2 |
129,880,530 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6901:Tgm3
|
UTSW |
2 |
129,883,890 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6969:Tgm3
|
UTSW |
2 |
129,883,949 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6980:Tgm3
|
UTSW |
2 |
129,868,697 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7282:Tgm3
|
UTSW |
2 |
129,866,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:Tgm3
|
UTSW |
2 |
129,890,211 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7513:Tgm3
|
UTSW |
2 |
129,866,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7793:Tgm3
|
UTSW |
2 |
129,854,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7822:Tgm3
|
UTSW |
2 |
129,883,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7955:Tgm3
|
UTSW |
2 |
129,880,400 (GRCm39) |
missense |
probably benign |
|
|
R8747:Tgm3
|
UTSW |
2 |
129,886,452 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8805:Tgm3
|
UTSW |
2 |
129,889,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Tgm3
|
UTSW |
2 |
129,880,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9029:Tgm3
|
UTSW |
2 |
129,871,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9208:Tgm3
|
UTSW |
2 |
129,865,618 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9423:Tgm3
|
UTSW |
2 |
129,880,527 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9713:Tgm3
|
UTSW |
2 |
129,867,229 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0065:Tgm3
|
UTSW |
2 |
129,866,430 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGACCTGACAAGATTAGACCC -3'
(R):5'- AGGCTGTCATGTTCATCGTCAC -3'
Sequencing Primer
(F):5'- CTGACAAGATTAGACCCTTGCTGG -3'
(R):5'- CATGTTTTTGAGCATCAGGGACAGAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation