Incidental Mutation 'R6636:Tgm7'
ID |
525437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgm7
|
Ensembl Gene |
ENSMUSG00000079103 |
Gene Name |
transglutaminase 7 |
Synonyms |
TGz |
MMRRC Submission |
044757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6636 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120924046-120946877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120931571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 197
(R197S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110675]
|
AlphaFold |
A2ART8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110675
AA Change: R197S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106303 Gene: ENSMUSG00000079103 AA Change: R197S
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 |
|
Meta Mutation Damage Score |
0.9016 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
98% (41/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
probably benign |
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 |
|
IGL02077:Tgm7
|
APN |
2 |
120,934,316 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTACAGGACAGTCACACATCCA -3'
(R):5'- GGTGAGCAGATGGGCATGT -3'
Sequencing Primer
(F):5'- GGCAAGCGAATCCGTTTCATC -3'
(R):5'- CAGATGGGCATGTGGGTAG -3'
|
Posted On |
2018-06-22 |