Incidental Mutation 'R4180:Tgm5'
| ID |
319676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm5
|
| Ensembl Gene |
ENSMUSG00000053675 |
| Gene Name |
transglutaminase 5 |
| Synonyms |
TGx, 2310007C07Rik |
| MMRRC Submission |
041016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R4180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120876592-120916322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120907442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 94
(I94V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028721]
|
| AlphaFold |
Q9D7I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028721
AA Change: I94V
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: I94V
| 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: ENSMUST00000142674
|
| Meta Mutation Damage Score |
0.1326 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (52/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,331,590 (GRCm39) |
S1326P |
possibly damaging |
Het |
| Adam22 |
T |
G |
5: 8,199,218 (GRCm39) |
D246A |
probably damaging |
Het |
| Bmf |
T |
C |
2: 118,363,018 (GRCm39) |
|
probably benign |
Het |
| Cd300lf |
T |
C |
11: 115,015,089 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Chuk |
G |
A |
19: 44,090,279 (GRCm39) |
A71V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,309,473 (GRCm39) |
G1060E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,904,973 (GRCm39) |
V634A |
probably benign |
Het |
| Dpm3 |
A |
G |
3: 89,174,039 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fam184b |
T |
C |
5: 45,697,106 (GRCm39) |
E686G |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,712,854 (GRCm39) |
D195V |
possibly damaging |
Het |
| Glis2 |
T |
C |
16: 4,429,240 (GRCm39) |
S148P |
probably benign |
Het |
| Gm8587 |
C |
T |
12: 88,056,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,501,811 (GRCm39) |
W687R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
| Ints9 |
T |
C |
14: 65,230,430 (GRCm39) |
L119P |
probably damaging |
Het |
| Itga9 |
T |
C |
9: 118,436,146 (GRCm39) |
Y51H |
probably damaging |
Het |
| Klf17 |
T |
A |
4: 117,616,383 (GRCm39) |
H316L |
probably benign |
Het |
| Klf4 |
C |
T |
4: 55,530,884 (GRCm39) |
G26R |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,049,711 (GRCm39) |
V605A |
probably damaging |
Het |
| Mafa |
T |
C |
15: 75,619,413 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Map3k20 |
A |
G |
2: 72,271,915 (GRCm39) |
Y681C |
probably damaging |
Het |
| Nub1 |
T |
C |
5: 24,897,875 (GRCm39) |
I87T |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,242 (GRCm39) |
V37D |
probably damaging |
Het |
| Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,898 (GRCm39) |
V256D |
possibly damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,332,261 (GRCm39) |
|
probably benign |
Het |
| Rgcc |
T |
C |
14: 79,538,155 (GRCm39) |
S79G |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
A |
T |
16: 37,068,242 (GRCm39) |
C315S |
probably benign |
Het |
| Tc2n |
A |
G |
12: 101,631,954 (GRCm39) |
L301P |
probably damaging |
Het |
| Tcerg1l |
T |
C |
7: 137,878,405 (GRCm39) |
|
probably null |
Het |
| Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trbv4 |
A |
C |
6: 41,036,646 (GRCm39) |
D57A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,192,426 (GRCm39) |
D396G |
probably benign |
Het |
| Txnrd2 |
C |
G |
16: 18,245,175 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,681,589 (GRCm39) |
N784S |
probably benign |
Het |
| Zfp459 |
G |
T |
13: 67,556,562 (GRCm39) |
L174I |
probably benign |
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 |
|
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 |
|
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'- AAACCTGGTGGCACTGACAG -3'
(R):5'- GCATGTATGAAATAGAGCATGTGTG -3'
Sequencing Primer
(F):5'- AAGTGGGTCCCTGCCTCAC -3'
(R):5'- ATGCATGTATGTATAAAGTGGAGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation