Incidental Mutation 'RF022:Tgm5'
| ID |
603921 |
| 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 # |
RF022 (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 A
at 120902092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 192
(E192D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028721]
|
| AlphaFold |
Q9D7I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028721
AA Change: E192D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: E192D
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
GTACT |
GTACTACT |
12: 110,634,877 (GRCm39) |
|
probably null |
Het |
| Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,455,289 (GRCm39) |
E702V |
possibly damaging |
Het |
| Arpc3 |
A |
G |
5: 122,538,489 (GRCm39) |
T7A |
probably benign |
Het |
| Bcl3 |
G |
A |
7: 19,542,966 (GRCm39) |
P393L |
probably damaging |
Het |
| Ceacam9 |
A |
G |
7: 16,459,304 (GRCm39) |
D201G |
possibly damaging |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
| Clgn |
A |
G |
8: 84,152,235 (GRCm39) |
K579R |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 46,998,599 (GRCm39) |
R884W |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,954,207 (GRCm39) |
D377E |
probably damaging |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
| D5Ertd579e |
A |
C |
5: 36,772,006 (GRCm39) |
I796M |
probably damaging |
Het |
| Dmkn |
GGTGGAAGTGGTGGAAG |
GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG |
7: 30,466,600 (GRCm39) |
|
probably benign |
Het |
| Dpagt1 |
G |
T |
9: 44,243,262 (GRCm39) |
V266L |
possibly damaging |
Het |
| Ebf3 |
C |
A |
7: 136,915,671 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CACTCCTGGTGT |
CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT |
17: 23,981,141 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,600 (GRCm39) |
|
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,057 (GRCm39) |
D1393G |
probably damaging |
Het |
| Gpc5 |
G |
A |
14: 115,789,688 (GRCm39) |
V521I |
probably damaging |
Het |
| Grik1 |
A |
T |
16: 87,693,225 (GRCm39) |
N859K |
|
Het |
| Insrr |
G |
A |
3: 87,711,792 (GRCm39) |
A511T |
possibly damaging |
Het |
| Isx |
A |
G |
8: 75,600,474 (GRCm39) |
D69G |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Lkaaear1 |
CAGCTCCAG |
CAGCTCCAGGTCGAGCTCCAG |
2: 181,339,370 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,029,841 (GRCm39) |
E915G |
unknown |
Het |
| Maml3 |
A |
G |
3: 51,764,083 (GRCm39) |
S294P |
probably damaging |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Mef2d |
A |
T |
3: 88,075,574 (GRCm39) |
T486S |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,053,689 (GRCm39) |
V139A |
possibly damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2z8 |
T |
G |
8: 72,812,468 (GRCm39) |
*315G |
probably null |
Het |
| Pdik1l |
GTTTTTGTTTT |
GTTTTTGTTTTTTTTTTGTTTT |
4: 134,006,678 (GRCm39) |
|
probably null |
Het |
| Pnma8a |
TCATGATGCACCTGCTTCAACATC |
TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC |
7: 16,695,352 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,296,817 (GRCm39) |
L177P |
probably damaging |
Het |
| Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,552,367 (GRCm39) |
F966L |
probably benign |
Het |
| Rad17 |
A |
G |
13: 100,773,593 (GRCm39) |
L132S |
probably damaging |
Het |
| Raph1 |
GG |
GGGGG |
1: 60,528,426 (GRCm39) |
|
probably benign |
Het |
| Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
| Rwdd2b |
C |
T |
16: 87,233,558 (GRCm39) |
A181T |
probably benign |
Het |
| Sh3pxd2b |
GCCTGT |
GCCTGTTCCTGT |
11: 32,373,054 (GRCm39) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
| Sla |
C |
T |
15: 66,654,593 (GRCm39) |
G231D |
probably benign |
Het |
| Tcof1 |
CAG |
CAGTAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
| Tmem123 |
A |
G |
9: 7,791,414 (GRCm39) |
Y171C |
probably damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,385 (GRCm39) |
A999V |
|
Het |
| Triobp |
C |
T |
15: 78,858,482 (GRCm39) |
P1361L |
probably benign |
Het |
| Ubac1 |
A |
T |
2: 25,895,470 (GRCm39) |
W328R |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,688,200 (GRCm39) |
N324S |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,939,472 (GRCm39) |
I407T |
possibly damaging |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
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 |
|
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 |
|
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'- AAGGCAGAGGTCCCTTTACAC -3'
(R):5'- GACATATATGCCAAGTGGGTTATGC -3'
Sequencing Primer
(F):5'- AGAGGTCCCTTTACACAGCTC -3'
(R):5'- CCAAGTGGGTTATGCTACCATAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation