Incidental Mutation 'PIT4283001:Tgm5'
| ID |
554346 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4283001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120876592-120916322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120902066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 201
(E201G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028721]
|
| AlphaFold |
Q9D7I9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028721
AA Change: E201G
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: E201G
| 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 |
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.1%
- 10x: 86.5%
- 20x: 76.2%
|
| 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 |
|---|
| 2610028H24Rik |
A |
C |
10: 76,285,093 (GRCm39) |
M1L |
probably benign |
Het |
| Aacs |
C |
A |
5: 125,561,719 (GRCm39) |
A119D |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,693 (GRCm39) |
V216D |
probably damaging |
Het |
| Adap2 |
T |
A |
11: 80,068,089 (GRCm39) |
L367H |
probably damaging |
Het |
| Adcy7 |
T |
A |
8: 89,042,120 (GRCm39) |
M373K |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,429,354 (GRCm39) |
L507P |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,521,953 (GRCm39) |
D1718G |
probably damaging |
Het |
| Cacna2d1 |
A |
C |
5: 16,507,292 (GRCm39) |
Y347S |
probably benign |
Het |
| Carf |
C |
A |
1: 60,167,161 (GRCm39) |
P165T |
probably benign |
Het |
| Cplx3 |
T |
C |
9: 57,523,359 (GRCm39) |
E66G |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,151,917 (GRCm39) |
T523A |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,161,739 (GRCm39) |
S326P |
probably benign |
Het |
| Eif4enif1 |
A |
T |
11: 3,184,464 (GRCm39) |
E528D |
probably damaging |
Het |
| Elp2 |
G |
A |
18: 24,755,187 (GRCm39) |
D392N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,482,577 (GRCm39) |
S3079P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,490,244 (GRCm39) |
V3719F |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,917,897 (GRCm39) |
S1509C |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,614,064 (GRCm39) |
V693A |
probably benign |
Het |
| Frmpd4 |
C |
T |
X: 166,512,030 (GRCm39) |
R8H |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,058,129 (GRCm39) |
I380N |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,366,752 (GRCm39) |
G72D |
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,622,735 (GRCm39) |
E299V |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,187,864 (GRCm39) |
R544H |
probably damaging |
Het |
| Ifitm7 |
A |
T |
16: 13,801,471 (GRCm39) |
V96E |
probably damaging |
Het |
| Lsm14b |
T |
A |
2: 179,674,336 (GRCm39) |
M293K |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,946,432 (GRCm39) |
T1230S |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,355,042 (GRCm39) |
H910L |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,560,110 (GRCm39) |
N247S |
possibly damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,696 (GRCm39) |
I116T |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,420,572 (GRCm39) |
M296V |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,323,068 (GRCm39) |
S264G |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,701,774 (GRCm39) |
R802W |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,864 (GRCm39) |
E41G |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,990,489 (GRCm39) |
I112T |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,020,921 (GRCm39) |
M1T |
probably null |
Het |
| Rtel1 |
T |
C |
2: 180,988,683 (GRCm39) |
I417T |
probably benign |
Het |
| Sirt1 |
A |
T |
10: 63,157,565 (GRCm39) |
N616K |
probably benign |
Het |
| Sirt6 |
T |
C |
10: 81,458,252 (GRCm39) |
S334G |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,205,788 (GRCm39) |
Y827C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,597,594 (GRCm39) |
Y385H |
possibly damaging |
Het |
| Thbd |
G |
C |
2: 148,249,003 (GRCm39) |
N288K |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,169,064 (GRCm39) |
N1068K |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,904,756 (GRCm39) |
E361G |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,835,158 (GRCm39) |
N2736S |
|
Het |
| Vwa5b1 |
A |
G |
4: 138,327,574 (GRCm39) |
L334P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,355 (GRCm39) |
S4226P |
unknown |
Het |
| Zdhhc24 |
T |
C |
19: 4,928,778 (GRCm39) |
M1T |
probably null |
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 |
|
IGL01545:Tgm5
|
APN |
2 |
120,883,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGTCCCATTCTCAGAGGG -3'
(R):5'- GCCGTTTTGTTTGACAACTACC -3'
Sequencing Primer
(F):5'- CCTGTTGCAGGTATAGCCATGAG -3'
(R):5'- GACAACTACCTTGCAATTGGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation