Incidental Mutation 'R0117:Tgm5'
| ID |
20860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm5
|
| Ensembl Gene |
ENSMUSG00000053675 |
| Gene Name |
transglutaminase 5 |
| Synonyms |
TGx, 2310007C07Rik |
| MMRRC Submission |
038403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R0117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
2 |
| Chromosomal Location |
120876592-120916322 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 120905583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028721]
|
| AlphaFold |
Q9D7I9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028721
|
| SMART Domains |
Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
| 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 |
0.9491 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.1%
|
| Validation Efficiency |
95% (59/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
A |
T |
17: 33,999,776 (GRCm39) |
I141K |
probably damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,194 (GRCm39) |
D102E |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,947,368 (GRCm39) |
T486A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,817 (GRCm39) |
T624A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,983,808 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
C |
18: 67,759,744 (GRCm39) |
Y323C |
possibly damaging |
Het |
| CK137956 |
T |
A |
4: 127,840,585 (GRCm39) |
T374S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,539 (GRCm39) |
F359I |
probably benign |
Het |
| Cyp4f13 |
G |
T |
17: 33,149,580 (GRCm39) |
H194Q |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,240,016 (GRCm39) |
D667E |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,106,037 (GRCm39) |
R716* |
probably null |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,670,560 (GRCm39) |
|
probably null |
Het |
| Gsta5 |
C |
T |
9: 78,211,700 (GRCm39) |
T154I |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,863,359 (GRCm39) |
|
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,882,533 (GRCm39) |
R173H |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,082,005 (GRCm39) |
N979S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,670 (GRCm39) |
Y417C |
probably damaging |
Het |
| Lmf1 |
G |
T |
17: 25,874,965 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,790,036 (GRCm39) |
R659C |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,832 (GRCm39) |
V416A |
possibly damaging |
Het |
| Mgarp |
G |
T |
3: 51,304,133 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
G |
A |
11: 101,891,399 (GRCm39) |
P580S |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Ninl |
G |
A |
2: 150,779,593 (GRCm39) |
R269W |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,595 (GRCm39) |
E2G |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,146 (GRCm39) |
I250N |
probably damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,214 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,244,561 (GRCm39) |
L1173* |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,139,979 (GRCm39) |
E314G |
probably damaging |
Het |
| Peds1 |
A |
G |
2: 167,486,678 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,623,003 (GRCm39) |
M1V |
probably null |
Het |
| Pkdrej |
T |
A |
15: 85,700,300 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
A |
4: 155,069,815 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
G |
A |
11: 70,448,214 (GRCm39) |
R887Q |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,934,286 (GRCm39) |
D838G |
possibly damaging |
Het |
| Postn |
C |
T |
3: 54,290,902 (GRCm39) |
|
probably benign |
Het |
| Prl8a8 |
T |
A |
13: 27,692,473 (GRCm39) |
I172F |
probably damaging |
Het |
| Psmc4 |
A |
T |
7: 27,742,165 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,451,897 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 78,986,484 (GRCm39) |
S1017P |
probably benign |
Het |
| Rbak |
G |
T |
5: 143,159,387 (GRCm39) |
Y555* |
probably null |
Het |
| Serpina1c |
T |
G |
12: 103,861,271 (GRCm39) |
*414C |
probably null |
Het |
| Sntb1 |
A |
G |
15: 55,769,749 (GRCm39) |
V80A |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,944,873 (GRCm39) |
V884A |
probably benign |
Het |
| Stmnd1 |
C |
A |
13: 46,438,962 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Tubb1 |
T |
C |
2: 174,299,577 (GRCm39) |
S420P |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,770,430 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,347,464 (GRCm39) |
A3235V |
possibly damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,488,427 (GRCm39) |
S122P |
possibly 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 |
|
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 |
|
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'- GGCATTGGCATGGCATCATTGAAG -3'
(R):5'- TGGGACTGTTTGGAAAGGAATGCAC -3'
Sequencing Primer
(F):5'- GAAGATTGTTCACCAGCCCTG -3'
(R):5'- GAATGCACAAGGTGGCTTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation