Incidental Mutation 'R7094:Tgm1'
| ID |
550379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm1
|
| Ensembl Gene |
ENSMUSG00000022218 |
| Gene Name |
transglutaminase 1, K polypeptide |
| Synonyms |
TG K, 2310004J08Rik, TGase1, TGase 1, K polypeptide, protein-glutamine-gamma-glutamyltransferase |
| MMRRC Submission |
045187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R7094 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55942300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 684
(T684A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000168729]
[ENSMUST00000178034]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002389
AA Change: T684A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: T684A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
95 |
N/A |
INTRINSIC |
|
Pfam:Transglut_N
|
109 |
228 |
5.5e-35 |
PFAM |
|
TGc
|
368 |
461 |
1.7e-43 |
SMART |
|
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
|
Pfam:Transglut_C
|
578 |
682 |
1.5e-22 |
PFAM |
|
Pfam:Transglut_C
|
690 |
787 |
1e-20 |
PFAM |
|
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168729
AA Change: T684A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: T684A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
95 |
N/A |
INTRINSIC |
|
Pfam:Transglut_N
|
109 |
228 |
5.5e-35 |
PFAM |
|
TGc
|
368 |
461 |
1.7e-43 |
SMART |
|
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
|
Pfam:Transglut_C
|
578 |
682 |
1.5e-22 |
PFAM |
|
Pfam:Transglut_C
|
690 |
787 |
1e-20 |
PFAM |
|
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178034
AA Change: T684A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: T684A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
95 |
N/A |
INTRINSIC |
|
Pfam:Transglut_N
|
110 |
226 |
1.2e-32 |
PFAM |
|
TGc
|
368 |
461 |
1.7e-43 |
SMART |
|
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
|
Pfam:Transglut_C
|
578 |
682 |
3.6e-24 |
PFAM |
|
Pfam:Transglut_C
|
690 |
787 |
1.3e-20 |
PFAM |
|
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
PHENOTYPE: Newborn mice homozygous for a knock-out allele are small and hypoactive and die within hours of birth displaying failure to suckle, progressive dehydration, and epidermal defects including a reddish, tight and wrinkled skin, hyperkeratosis, and impaired skin barrier function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,610 (GRCm39) |
I2786F |
probably damaging |
Het |
| Actl6a |
A |
T |
3: 32,760,487 (GRCm39) |
|
probably benign |
Het |
| Actn2 |
A |
G |
13: 12,324,543 (GRCm39) |
V100A |
probably damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,522,187 (GRCm39) |
A613E |
probably damaging |
Het |
| Atf6b |
G |
A |
17: 34,872,790 (GRCm39) |
|
probably null |
Het |
| Bub1 |
T |
A |
2: 127,663,681 (GRCm39) |
E240V |
probably null |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,871,797 (GRCm39) |
R829L |
possibly damaging |
Het |
| Ccdc85c |
GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC |
GCCGCCGCCGCCAGCGCC |
12: 108,240,877 (GRCm39) |
|
probably null |
Het |
| Cd209g |
T |
C |
8: 4,186,790 (GRCm39) |
F112L |
possibly damaging |
Het |
| Cebpe |
C |
T |
14: 54,948,060 (GRCm39) |
R261H |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,390,436 (GRCm39) |
E68G |
|
Het |
| Chd9 |
A |
G |
8: 91,716,189 (GRCm39) |
N921S |
unknown |
Het |
| Chil6 |
T |
C |
3: 106,311,486 (GRCm39) |
N98S |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,761,333 (GRCm39) |
K734E |
probably benign |
Het |
| Cracd |
C |
T |
5: 77,006,879 (GRCm39) |
P1080L |
unknown |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,507 (GRCm39) |
F204S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,482 (GRCm39) |
T4418A |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,077,184 (GRCm39) |
V649A |
probably benign |
Het |
| Ergic3 |
G |
A |
2: 155,858,683 (GRCm39) |
V270M |
possibly damaging |
Het |
| Eva1a |
C |
T |
6: 82,069,024 (GRCm39) |
T117I |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,023 (GRCm39) |
G972D |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,009,138 (GRCm39) |
N39K |
probably damaging |
Het |
| Gm5565 |
T |
C |
5: 146,095,084 (GRCm39) |
T221A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,215,366 (GRCm39) |
V29G |
possibly damaging |
Het |
| Grem2 |
T |
C |
1: 174,664,555 (GRCm39) |
Y98C |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,012 (GRCm39) |
I506N |
possibly damaging |
Het |
| Has2 |
T |
A |
15: 56,545,017 (GRCm39) |
Y195F |
probably damaging |
Het |
| Kics2 |
A |
G |
10: 121,576,098 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,288,650 (GRCm39) |
L832P |
probably damaging |
Het |
| Lipo5 |
T |
A |
19: 33,446,249 (GRCm39) |
E49D |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,414,126 (GRCm39) |
Y767* |
probably null |
Het |
| Map2 |
G |
T |
1: 66,451,886 (GRCm39) |
E259* |
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,496,253 (GRCm39) |
D310G |
probably damaging |
Het |
| Mink1 |
C |
A |
11: 70,500,901 (GRCm39) |
|
probably null |
Het |
| Mtrr |
T |
C |
13: 68,727,803 (GRCm39) |
T48A |
possibly damaging |
Het |
| Nrsn1 |
A |
T |
13: 25,437,724 (GRCm39) |
I68N |
possibly damaging |
Het |
| Or1ab2 |
A |
T |
8: 72,863,347 (GRCm39) |
|
probably benign |
Het |
| Or4a71 |
A |
T |
2: 89,357,902 (GRCm39) |
I284K |
probably damaging |
Het |
| Or51f23b |
A |
G |
7: 102,402,305 (GRCm39) |
M277T |
probably benign |
Het |
| Or5p60 |
G |
T |
7: 107,723,840 (GRCm39) |
T210N |
probably benign |
Het |
| Or8k36-ps1 |
T |
C |
2: 86,437,672 (GRCm39) |
N81S |
unknown |
Het |
| Pcdh17 |
A |
G |
14: 84,684,835 (GRCm39) |
D434G |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,328,430 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,552,096 (GRCm39) |
E121G |
probably damaging |
Het |
| Slc35e4 |
T |
C |
11: 3,863,118 (GRCm39) |
S24G |
probably benign |
Het |
| Slc39a2 |
G |
T |
14: 52,131,146 (GRCm39) |
|
probably benign |
Het |
| Slitrk5 |
C |
T |
14: 111,918,268 (GRCm39) |
P631S |
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,923,482 (GRCm39) |
V265A |
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,655,542 (GRCm39) |
N103S |
probably benign |
Het |
| Tgm7 |
C |
T |
2: 120,929,489 (GRCm39) |
G262S |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,008,148 (GRCm39) |
S451T |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,173,788 (GRCm39) |
Y240C |
probably benign |
Het |
| Trio |
A |
T |
15: 27,891,534 (GRCm39) |
C465S |
unknown |
Het |
| Ttc22 |
G |
A |
4: 106,493,104 (GRCm39) |
W250* |
probably null |
Het |
| Upb1 |
C |
A |
10: 75,274,042 (GRCm39) |
F356L |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,573 (GRCm39) |
M419K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,990 (GRCm39) |
|
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,246 (GRCm39) |
T361A |
probably benign |
Het |
|
| Other mutations in Tgm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02206:Tgm1
|
APN |
14 |
55,942,392 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02934:Tgm1
|
APN |
14 |
55,947,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03243:Tgm1
|
APN |
14 |
55,943,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03282:Tgm1
|
APN |
14 |
55,948,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4458001:Tgm1
|
UTSW |
14 |
55,950,022 (GRCm39) |
missense |
unknown |
|
|
R0277:Tgm1
|
UTSW |
14 |
55,950,109 (GRCm39) |
unclassified |
probably benign |
|
|
R0277:Tgm1
|
UTSW |
14 |
55,948,384 (GRCm39) |
unclassified |
probably benign |
|
|
R0478:Tgm1
|
UTSW |
14 |
55,937,791 (GRCm39) |
nonsense |
probably null |
|
|
R1349:Tgm1
|
UTSW |
14 |
55,948,658 (GRCm39) |
unclassified |
probably benign |
|
|
R1594:Tgm1
|
UTSW |
14 |
55,946,976 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1776:Tgm1
|
UTSW |
14 |
55,946,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1852:Tgm1
|
UTSW |
14 |
55,942,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Tgm1
|
UTSW |
14 |
55,943,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2064:Tgm1
|
UTSW |
14 |
55,946,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Tgm1
|
UTSW |
14 |
55,947,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2427:Tgm1
|
UTSW |
14 |
55,949,557 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3710:Tgm1
|
UTSW |
14 |
55,950,052 (GRCm39) |
unclassified |
probably benign |
|
|
R3917:Tgm1
|
UTSW |
14 |
55,950,214 (GRCm39) |
splice site |
probably benign |
|
|
R4697:Tgm1
|
UTSW |
14 |
55,943,138 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4804:Tgm1
|
UTSW |
14 |
55,943,076 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5074:Tgm1
|
UTSW |
14 |
55,947,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Tgm1
|
UTSW |
14 |
55,937,705 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5346:Tgm1
|
UTSW |
14 |
55,948,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5557:Tgm1
|
UTSW |
14 |
55,943,100 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5566:Tgm1
|
UTSW |
14 |
55,949,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5828:Tgm1
|
UTSW |
14 |
55,943,011 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6802:Tgm1
|
UTSW |
14 |
55,949,939 (GRCm39) |
unclassified |
probably benign |
|
|
R7017:Tgm1
|
UTSW |
14 |
55,942,398 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7549:Tgm1
|
UTSW |
14 |
55,943,360 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7731:Tgm1
|
UTSW |
14 |
55,947,978 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7799:Tgm1
|
UTSW |
14 |
55,949,932 (GRCm39) |
missense |
unknown |
|
|
R7915:Tgm1
|
UTSW |
14 |
55,937,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7956:Tgm1
|
UTSW |
14 |
55,946,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8098:Tgm1
|
UTSW |
14 |
55,947,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Tgm1
|
UTSW |
14 |
55,942,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Tgm1
|
UTSW |
14 |
55,943,100 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8493:Tgm1
|
UTSW |
14 |
55,937,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Tgm1
|
UTSW |
14 |
55,949,686 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9170:Tgm1
|
UTSW |
14 |
55,946,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9300:Tgm1
|
UTSW |
14 |
55,942,303 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9365:Tgm1
|
UTSW |
14 |
55,942,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9407:Tgm1
|
UTSW |
14 |
55,942,991 (GRCm39) |
nonsense |
probably null |
|
|
R9499:Tgm1
|
UTSW |
14 |
55,950,933 (GRCm39) |
start gained |
probably benign |
|
|
R9520:Tgm1
|
UTSW |
14 |
55,942,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Tgm1
|
UTSW |
14 |
55,950,933 (GRCm39) |
start gained |
probably benign |
|
|
R9664:Tgm1
|
UTSW |
14 |
55,948,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGACTTTAACCTTCTCCGAAAAG -3'
(R):5'- TACTATGGCTTTCACATGGAGGC -3'
Sequencing Primer
(F):5'- AAGGCTCATCAGGGTAACTTGTCTC -3'
(R):5'- TTTCACATGGAGGCCCTACAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation