Incidental Mutation 'IGL01545:Tgm5'
| ID |
90310 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tgm5
|
| Ensembl Gene |
ENSMUSG00000053675 |
| Gene Name |
transglutaminase 5 |
| Synonyms |
TGx, 2310007C07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
IGL01545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120876592-120916322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120883289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 351
(R351S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028721]
|
| AlphaFold |
Q9D7I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028721
AA Change: R351S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: R351S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transglut_N
|
11 |
127 |
1.4e-31 |
PFAM |
|
TGc
|
275 |
368 |
1.86e-49 |
SMART |
|
Pfam:Transglut_C
|
511 |
610 |
2.5e-23 |
PFAM |
|
Pfam:Transglut_C
|
624 |
722 |
1.8e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119778
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele display normal skin barrier function and no signs of skin peeling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
G |
A |
11: 30,376,228 (GRCm39) |
S213L |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,614,303 (GRCm39) |
I4030T |
possibly damaging |
Het |
| Ap4b1 |
G |
A |
3: 103,720,143 (GRCm39) |
R55H |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,159,282 (GRCm39) |
M55K |
probably benign |
Het |
| B3galt4 |
A |
C |
17: 34,170,187 (GRCm39) |
V17G |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,600,691 (GRCm39) |
M172L |
probably benign |
Het |
| Cry1 |
A |
T |
10: 85,020,226 (GRCm39) |
L37H |
possibly damaging |
Het |
| D5Ertd615e |
A |
T |
5: 45,326,755 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah17 |
A |
T |
11: 118,010,394 (GRCm39) |
L308Q |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,557,941 (GRCm39) |
A2158T |
probably benign |
Het |
| Dusp2 |
A |
G |
2: 127,179,695 (GRCm39) |
T313A |
probably benign |
Het |
| Fam110c |
T |
C |
12: 31,124,982 (GRCm39) |
S315P |
probably damaging |
Het |
| Fcer2a |
G |
A |
8: 3,733,598 (GRCm39) |
R198* |
probably null |
Het |
| Fryl |
G |
A |
5: 73,211,940 (GRCm39) |
T2359M |
probably damaging |
Het |
| Gm14221 |
G |
A |
2: 160,410,303 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc6 |
T |
G |
14: 118,202,242 (GRCm39) |
L484R |
probably damaging |
Het |
| Igdcc3 |
G |
A |
9: 65,087,355 (GRCm39) |
V298M |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,046,080 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
T |
A |
1: 89,973,364 (GRCm39) |
M803L |
probably benign |
Het |
| Itga4 |
T |
C |
2: 79,146,314 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,352,143 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
T |
C |
12: 25,090,459 (GRCm39) |
F1141S |
possibly damaging |
Het |
| Kif7 |
A |
G |
7: 79,352,026 (GRCm39) |
I912T |
probably damaging |
Het |
| Klhl38 |
G |
A |
15: 58,185,854 (GRCm39) |
R292W |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,053,389 (GRCm39) |
|
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,827,758 (GRCm39) |
D39E |
probably damaging |
Het |
| Mrm2 |
A |
G |
5: 140,317,010 (GRCm39) |
V8A |
probably benign |
Het |
| Myod1 |
A |
T |
7: 46,026,539 (GRCm39) |
E148V |
probably damaging |
Het |
| Or5d47 |
A |
C |
2: 87,804,895 (GRCm39) |
I38S |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,475 (GRCm39) |
F30I |
possibly damaging |
Het |
| Ptcd1 |
T |
A |
5: 145,096,346 (GRCm39) |
H249L |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,865,561 (GRCm39) |
D451E |
probably benign |
Het |
| Rab44 |
C |
A |
17: 29,366,351 (GRCm39) |
S680R |
unknown |
Het |
| Rad21l |
A |
T |
2: 151,497,084 (GRCm39) |
D340E |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,703 (GRCm39) |
F1808L |
possibly damaging |
Het |
| Rnf122 |
T |
C |
8: 31,618,630 (GRCm39) |
V126A |
probably damaging |
Het |
| Slc25a47 |
G |
T |
12: 108,820,142 (GRCm39) |
V49L |
probably benign |
Het |
| Slc36a2 |
T |
C |
11: 55,075,633 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
G |
A |
9: 41,955,252 (GRCm39) |
R668W |
probably damaging |
Het |
| Tbx19 |
T |
A |
1: 164,966,725 (GRCm39) |
N383I |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,510 (GRCm39) |
H1676R |
probably benign |
Het |
| Tmem106b |
A |
G |
6: 13,071,842 (GRCm39) |
S34G |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,170,140 (GRCm39) |
|
probably benign |
Het |
| Wfdc11 |
A |
G |
2: 164,507,365 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
A |
2: 146,880,099 (GRCm39) |
I474K |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,797,063 (GRCm39) |
K383R |
probably damaging |
Het |
|
| Other mutations in Tgm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Tgm5
|
APN |
2 |
120,901,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01148:Tgm5
|
APN |
2 |
120,877,156 (GRCm39) |
splice site |
probably null |
|
|
IGL01284:Tgm5
|
APN |
2 |
120,883,028 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01370:Tgm5
|
APN |
2 |
120,884,018 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01547:Tgm5
|
APN |
2 |
120,879,683 (GRCm39) |
splice site |
probably benign |
|
|
IGL01998:Tgm5
|
APN |
2 |
120,882,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02577:Tgm5
|
APN |
2 |
120,908,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02636:Tgm5
|
APN |
2 |
120,907,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4283001:Tgm5
|
UTSW |
2 |
120,902,066 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0001:Tgm5
|
UTSW |
2 |
120,908,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Tgm5
|
UTSW |
2 |
120,907,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Tgm5
|
UTSW |
2 |
120,907,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Tgm5
|
UTSW |
2 |
120,907,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Tgm5
|
UTSW |
2 |
120,905,583 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0145:Tgm5
|
UTSW |
2 |
120,908,062 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0356:Tgm5
|
UTSW |
2 |
120,884,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Tgm5
|
UTSW |
2 |
120,908,039 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0519:Tgm5
|
UTSW |
2 |
120,879,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Tgm5
|
UTSW |
2 |
120,902,025 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1773:Tgm5
|
UTSW |
2 |
120,908,131 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1864:Tgm5
|
UTSW |
2 |
120,905,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Tgm5
|
UTSW |
2 |
120,879,304 (GRCm39) |
splice site |
probably benign |
|
|
R2511:Tgm5
|
UTSW |
2 |
120,907,429 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4180:Tgm5
|
UTSW |
2 |
120,907,442 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4230:Tgm5
|
UTSW |
2 |
120,901,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Tgm5
|
UTSW |
2 |
120,882,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Tgm5
|
UTSW |
2 |
120,882,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Tgm5
|
UTSW |
2 |
120,916,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6033:Tgm5
|
UTSW |
2 |
120,901,210 (GRCm39) |
splice site |
probably null |
|
|
R6033:Tgm5
|
UTSW |
2 |
120,901,210 (GRCm39) |
splice site |
probably null |
|
|
R7064:Tgm5
|
UTSW |
2 |
120,883,995 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7102:Tgm5
|
UTSW |
2 |
120,876,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7114:Tgm5
|
UTSW |
2 |
120,878,977 (GRCm39) |
nonsense |
probably null |
|
|
R7178:Tgm5
|
UTSW |
2 |
120,916,249 (GRCm39) |
start gained |
probably benign |
|
|
R7748:Tgm5
|
UTSW |
2 |
120,883,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Tgm5
|
UTSW |
2 |
120,905,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Tgm5
|
UTSW |
2 |
120,879,356 (GRCm39) |
missense |
probably benign |
|
|
R9010:Tgm5
|
UTSW |
2 |
120,879,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9129:Tgm5
|
UTSW |
2 |
120,877,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9465:Tgm5
|
UTSW |
2 |
120,905,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF022:Tgm5
|
UTSW |
2 |
120,902,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V3553:Tgm5
|
UTSW |
2 |
120,901,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Tgm5
|
UTSW |
2 |
120,901,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tgm5
|
UTSW |
2 |
120,882,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation