Incidental Mutation 'IGL02077:Tgm7'
| ID |
186010 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tgm7
|
| Ensembl Gene |
ENSMUSG00000079103 |
| Gene Name |
transglutaminase 7 |
| Synonyms |
TGz |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120924046-120946877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120934316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 192
(M192K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110675]
|
| AlphaFold |
A2ART8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110675
AA Change: M192K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103
AA Change: M192K
| Domain | Start | End | E-Value | Type |
|---|
|
TGc
|
177 |
270 |
2.54e-42 |
SMART |
|
SCOP:d1kv3a2
|
395 |
512 |
1e-33 |
SMART |
|
Pfam:Transglut_C
|
514 |
612 |
1.7e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap11a |
G |
T |
2: 113,667,816 (GRCm39) |
T395K |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,577,648 (GRCm39) |
S58P |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,026,435 (GRCm39) |
V1669E |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,790,784 (GRCm39) |
T81S |
probably benign |
Het |
| Hnf4a |
G |
T |
2: 163,404,527 (GRCm39) |
|
probably null |
Het |
| Il27 |
C |
T |
7: 126,194,051 (GRCm39) |
|
probably null |
Het |
| Lhcgr |
G |
A |
17: 89,057,558 (GRCm39) |
T311I |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,207,687 (GRCm39) |
S304P |
probably benign |
Het |
| Mfrp |
C |
T |
9: 44,016,517 (GRCm39) |
T404M |
probably damaging |
Het |
| Ntpcr |
T |
A |
8: 126,464,107 (GRCm39) |
Y77* |
probably null |
Het |
| Otof |
A |
G |
5: 30,556,579 (GRCm39) |
S301P |
probably damaging |
Het |
| Prpf6 |
G |
A |
2: 181,282,457 (GRCm39) |
G533R |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,386,635 (GRCm39) |
H1041Q |
probably damaging |
Het |
| Pyurf |
T |
C |
6: 57,666,820 (GRCm39) |
I81V |
probably benign |
Het |
| Rsl1d1 |
A |
G |
16: 11,012,320 (GRCm39) |
|
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,416,465 (GRCm39) |
D387E |
possibly damaging |
Het |
| Serpinb3a |
T |
G |
1: 106,974,111 (GRCm39) |
T267P |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,943,591 (GRCm39) |
V70L |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,744,419 (GRCm39) |
I769N |
probably damaging |
Het |
| Tlr9 |
A |
G |
9: 106,102,704 (GRCm39) |
Y665C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,600,506 (GRCm39) |
D18928G |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,215,875 (GRCm39) |
S131P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,564,875 (GRCm39) |
N854S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,910,759 (GRCm39) |
T3508A |
possibly damaging |
Het |
| Wdr43 |
G |
A |
17: 71,947,286 (GRCm39) |
A381T |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,323,169 (GRCm39) |
M859K |
possibly damaging |
Het |
|
| Other mutations in Tgm7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01538:Tgm7
|
APN |
2 |
120,937,396 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01576:Tgm7
|
APN |
2 |
120,931,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Tgm7
|
APN |
2 |
120,924,106 (GRCm39) |
nonsense |
probably null |
|
|
IGL02135:Tgm7
|
APN |
2 |
120,929,519 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0063:Tgm7
|
UTSW |
2 |
120,924,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0412:Tgm7
|
UTSW |
2 |
120,931,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Tgm7
|
UTSW |
2 |
120,931,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Tgm7
|
UTSW |
2 |
120,929,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Tgm7
|
UTSW |
2 |
120,929,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2279:Tgm7
|
UTSW |
2 |
120,929,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Tgm7
|
UTSW |
2 |
120,940,174 (GRCm39) |
start gained |
probably benign |
|
|
R2872:Tgm7
|
UTSW |
2 |
120,940,174 (GRCm39) |
start gained |
probably benign |
|
|
R4523:Tgm7
|
UTSW |
2 |
120,929,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4688:Tgm7
|
UTSW |
2 |
120,924,502 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4757:Tgm7
|
UTSW |
2 |
120,926,870 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4858:Tgm7
|
UTSW |
2 |
120,929,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5132:Tgm7
|
UTSW |
2 |
120,934,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5141:Tgm7
|
UTSW |
2 |
120,931,480 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5424:Tgm7
|
UTSW |
2 |
120,929,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Tgm7
|
UTSW |
2 |
120,926,454 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6166:Tgm7
|
UTSW |
2 |
120,929,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Tgm7
|
UTSW |
2 |
120,926,878 (GRCm39) |
nonsense |
probably null |
|
|
R6636:Tgm7
|
UTSW |
2 |
120,931,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6637:Tgm7
|
UTSW |
2 |
120,931,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Tgm7
|
UTSW |
2 |
120,924,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Tgm7
|
UTSW |
2 |
120,929,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Tgm7
|
UTSW |
2 |
120,926,878 (GRCm39) |
nonsense |
probably null |
|
|
R7729:Tgm7
|
UTSW |
2 |
120,924,191 (GRCm39) |
missense |
probably benign |
|
|
R7822:Tgm7
|
UTSW |
2 |
120,934,421 (GRCm39) |
missense |
probably benign |
|
|
R8213:Tgm7
|
UTSW |
2 |
120,931,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8511:Tgm7
|
UTSW |
2 |
120,924,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9182:Tgm7
|
UTSW |
2 |
120,926,980 (GRCm39) |
missense |
probably benign |
|
|
R9490:Tgm7
|
UTSW |
2 |
120,928,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9573:Tgm7
|
UTSW |
2 |
120,934,606 (GRCm39) |
missense |
probably benign |
|
|
R9656:Tgm7
|
UTSW |
2 |
120,940,191 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation