Incidental Mutation 'IGL02206:Tgm1'
| ID |
284473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
IGL02206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55942392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 653
(E653G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137642
(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: E653G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: E653G
| 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: E653G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: E653G
| 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: E653G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: E653G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227106
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,151,573 (GRCm39) |
K824* |
probably null |
Het |
| Acot12 |
A |
G |
13: 91,908,106 (GRCm39) |
D96G |
probably damaging |
Het |
| Acvr2b |
C |
T |
9: 119,257,064 (GRCm39) |
Q98* |
probably null |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,474 (GRCm39) |
V400A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,104,499 (GRCm39) |
H559N |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,495,034 (GRCm39) |
I431N |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,009 (GRCm39) |
D32G |
probably damaging |
Het |
| Cgas |
T |
C |
9: 78,350,362 (GRCm39) |
|
probably null |
Het |
| Cmtm8 |
T |
C |
9: 114,672,967 (GRCm39) |
H10R |
probably benign |
Het |
| Cnn1 |
T |
G |
9: 22,015,674 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Defb23 |
C |
A |
2: 152,306,455 (GRCm39) |
E20* |
probably null |
Het |
| Dennd2a |
A |
T |
6: 39,500,383 (GRCm39) |
S61T |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 58,964,204 (GRCm39) |
I76K |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,239 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
A |
T |
11: 49,521,217 (GRCm39) |
R409W |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,211,328 (GRCm39) |
T652A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,732,808 (GRCm39) |
G703D |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,526,781 (GRCm39) |
N2743S |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,744,550 (GRCm39) |
|
probably benign |
Het |
| Ndufa9 |
G |
A |
6: 126,821,366 (GRCm39) |
R75* |
probably null |
Het |
| Neurl4 |
A |
G |
11: 69,801,166 (GRCm39) |
N1181S |
probably damaging |
Het |
| Or5an9 |
T |
C |
19: 12,187,824 (GRCm39) |
I298T |
probably damaging |
Het |
| Phf1 |
A |
G |
17: 27,155,843 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,245 (GRCm39) |
I969T |
probably benign |
Het |
| Pprc1 |
G |
A |
19: 46,060,190 (GRCm39) |
R1538Q |
probably damaging |
Het |
| Rasd1 |
C |
T |
11: 59,854,778 (GRCm39) |
G234D |
possibly damaging |
Het |
| Rnf152 |
T |
C |
1: 105,212,549 (GRCm39) |
T3A |
probably benign |
Het |
| Rrh |
C |
T |
3: 129,605,346 (GRCm39) |
V115I |
probably benign |
Het |
| Rundc3a |
G |
T |
11: 102,290,460 (GRCm39) |
E217* |
probably null |
Het |
| Sae1 |
A |
T |
7: 16,064,581 (GRCm39) |
V306E |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,363,102 (GRCm39) |
S89P |
possibly damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,182 (GRCm39) |
T256A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,394,118 (GRCm39) |
T74S |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,604,022 (GRCm39) |
D48G |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,504,612 (GRCm39) |
M177V |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 60,301,398 (GRCm39) |
K299R |
probably benign |
Het |
| Ttc22 |
A |
G |
4: 106,493,186 (GRCm39) |
T278A |
probably damaging |
Het |
| Ubl4b |
G |
T |
3: 107,462,141 (GRCm39) |
Q40K |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,613,499 (GRCm39) |
D31G |
probably damaging |
Het |
|
| Other mutations in Tgm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R7094:Tgm1
|
UTSW |
14 |
55,942,300 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation