Incidental Mutation 'R0478:Tgm1'
| ID |
43212 |
| 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 |
038678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R0478 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 55937791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 773
(Q773*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000168729]
[ENSMUST00000178034]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002389
AA Change: Q773*
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: Q773*
| 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 |
probably null
Transcript: ENSMUST00000168729
AA Change: Q773*
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: Q773*
| 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 |
probably null
Transcript: ENSMUST00000178034
AA Change: Q773*
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: Q773*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| 4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
| Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
| Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
| Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
| Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
| Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
| Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
| Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
| Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
| Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
| Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
| Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
| Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
| Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
| Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
| St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
| Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGGCCTAGACAGACAGGACTAC -3'
(R):5'- GGGGAACCCAGAAATACCTGTGTG -3'
Sequencing Primer
(F):5'- ATGAAGAGCGACTGCCTC -3'
(R):5'- CCCAGAAATACCTGTGTGTTAAGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation