Incidental Mutation 'R5132:Tgm7'
| ID |
453356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm7
|
| Ensembl Gene |
ENSMUSG00000079103 |
| Gene Name |
transglutaminase 7 |
| Synonyms |
TGz |
| MMRRC Submission |
042720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120924046-120946877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120934700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 93
(F93L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110675]
|
| AlphaFold |
A2ART8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110675
AA Change: F93L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103
AA Change: F93L
| 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 |
0.8715 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
T |
1: 156,469,402 (GRCm39) |
K785* |
probably null |
Het |
| Acad11 |
A |
T |
9: 104,003,791 (GRCm39) |
I628L |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,355,516 (GRCm39) |
I98V |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,563,396 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,185,212 (GRCm39) |
|
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdc42ep3 |
C |
T |
17: 79,642,803 (GRCm39) |
R39H |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,517,733 (GRCm39) |
Y493C |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,749,040 (GRCm39) |
D66E |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,837,377 (GRCm39) |
D287G |
unknown |
Het |
| Gm8888 |
A |
G |
15: 96,664,892 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr25 |
G |
T |
1: 136,188,103 (GRCm39) |
A170E |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,180,225 (GRCm39) |
Y656C |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,764,629 (GRCm39) |
V145I |
probably benign |
Het |
| Htt |
T |
C |
5: 35,063,023 (GRCm39) |
V2885A |
possibly damaging |
Het |
| Larp6 |
A |
G |
9: 60,644,493 (GRCm39) |
E211G |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,660,072 (GRCm39) |
|
probably null |
Het |
| Mtbp |
A |
G |
15: 55,421,965 (GRCm39) |
S63G |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,137,781 (GRCm39) |
S513T |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,168,855 (GRCm39) |
D670G |
possibly damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,139,282 (GRCm39) |
M50L |
probably damaging |
Het |
| Or4k49 |
T |
A |
2: 111,495,344 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,477 (GRCm39) |
V138A |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,885,463 (GRCm39) |
V1061A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,773,669 (GRCm39) |
I560T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,157,121 (GRCm39) |
F733L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,061,121 (GRCm39) |
|
probably benign |
Het |
| Prkca |
T |
C |
11: 108,082,943 (GRCm39) |
|
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,960,707 (GRCm39) |
S473T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,147,156 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,298,548 (GRCm39) |
V1384I |
probably benign |
Het |
| Serpinb6a |
C |
T |
13: 34,102,305 (GRCm39) |
D307N |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,830,370 (GRCm39) |
E255G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,178 (GRCm39) |
|
probably benign |
Het |
| St7 |
A |
T |
6: 17,854,956 (GRCm39) |
I298F |
probably damaging |
Het |
| Timm23 |
A |
T |
14: 31,915,902 (GRCm39) |
D56E |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,596,357 (GRCm39) |
M56K |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCAGGAGATGACCAGGC -3'
(R):5'- TGCATTTCCATCAAGAATCACACAG -3'
Sequencing Primer
(F):5'- AGATGACCAGGCTGTCCTCAG -3'
(R):5'- TTGCACTTAAGAGCACTGGC -3'
|
| Posted On |
2017-02-02 |
Incidental Mutation