Incidental Mutation 'IGL01576:Tgm7'
| ID |
91264 |
| 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 # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120924046-120946877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120931514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 216
(D216E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110675]
|
| AlphaFold |
A2ART8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110675
AA Change: D216E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103
AA Change: D216E
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
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 |
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation