Incidental Mutation 'R5557:Tgm1'
ID |
435476 |
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 |
043114-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R5557 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55943100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 580
(M580T)
|
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 benign
Transcript: ENSMUST00000002389
AA Change: M580T
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000002389 Gene: ENSMUSG00000022218 AA Change: M580T
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 benign
Transcript: ENSMUST00000168729
AA Change: M580T
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128090 Gene: ENSMUSG00000022218 AA Change: M580T
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 benign
Transcript: ENSMUST00000178034
AA Change: M580T
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137642 Gene: ENSMUSG00000022218 AA Change: M580T
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 |
0.3669 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (72/72) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
A |
19: 3,767,501 (GRCm39) |
F363I |
possibly damaging |
Het |
Abcb1a |
T |
A |
5: 8,764,949 (GRCm39) |
N646K |
probably benign |
Het |
Abi2 |
C |
A |
1: 60,478,071 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,863,651 (GRCm39) |
S35P |
probably benign |
Het |
B4galt3 |
A |
G |
1: 171,100,089 (GRCm39) |
|
probably null |
Het |
Bag5 |
T |
C |
12: 111,676,524 (GRCm39) |
N433S |
probably benign |
Het |
Birc7 |
T |
A |
2: 180,574,772 (GRCm39) |
V218D |
probably benign |
Het |
Catsperg1 |
T |
G |
7: 28,895,296 (GRCm39) |
N332T |
possibly damaging |
Het |
Ccdc191 |
A |
C |
16: 43,728,976 (GRCm39) |
T179P |
probably damaging |
Het |
Col4a3 |
C |
T |
1: 82,692,968 (GRCm39) |
|
probably benign |
Het |
Crlf1 |
A |
G |
8: 70,951,317 (GRCm39) |
I65M |
probably benign |
Het |
Dennd4a |
T |
G |
9: 64,811,509 (GRCm39) |
D1376E |
probably benign |
Het |
Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
Dlg4 |
C |
T |
11: 69,933,106 (GRCm39) |
P504L |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,560,819 (GRCm39) |
T886A |
probably damaging |
Het |
Dst |
T |
A |
1: 34,321,667 (GRCm39) |
V4394E |
probably damaging |
Het |
Endov |
T |
C |
11: 119,393,186 (GRCm39) |
M112T |
possibly damaging |
Het |
Eps8 |
T |
C |
6: 137,456,094 (GRCm39) |
M796V |
possibly damaging |
Het |
Fam107b |
T |
A |
2: 3,771,791 (GRCm39) |
Y7* |
probably null |
Het |
Farsb |
C |
T |
1: 78,445,888 (GRCm39) |
|
probably null |
Het |
Fasn |
A |
G |
11: 120,703,252 (GRCm39) |
M1591T |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,248,731 (GRCm39) |
A384T |
probably benign |
Het |
Fnta |
T |
C |
8: 26,489,564 (GRCm39) |
D349G |
probably damaging |
Het |
Glis3 |
G |
T |
19: 28,241,409 (GRCm39) |
H842N |
probably benign |
Het |
Gm17067 |
G |
A |
7: 42,357,945 (GRCm39) |
P186S |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hk3 |
A |
T |
13: 55,159,888 (GRCm39) |
L362* |
probably null |
Het |
Ing3 |
A |
G |
6: 21,968,908 (GRCm39) |
H130R |
possibly damaging |
Het |
Inpp4b |
A |
T |
8: 82,678,888 (GRCm39) |
Q306L |
probably damaging |
Het |
Kcnq2 |
T |
C |
2: 180,776,690 (GRCm39) |
K66E |
probably benign |
Het |
Kif21b |
C |
A |
1: 136,097,797 (GRCm39) |
N1352K |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,808,003 (GRCm39) |
N84Y |
probably damaging |
Het |
Mill2 |
T |
A |
7: 18,589,884 (GRCm39) |
Y55* |
probably null |
Het |
Mmachc |
T |
C |
4: 116,563,097 (GRCm39) |
H86R |
probably damaging |
Het |
Ncbp1 |
T |
C |
4: 46,165,259 (GRCm39) |
V524A |
probably benign |
Het |
Or10ag54 |
A |
T |
2: 87,099,736 (GRCm39) |
T204S |
possibly damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,358 (GRCm39) |
C179S |
probably damaging |
Het |
Or4c102 |
G |
A |
2: 88,422,897 (GRCm39) |
V250M |
probably damaging |
Het |
Or5af1 |
G |
A |
11: 58,722,813 (GRCm39) |
V278I |
probably benign |
Het |
Or5b101 |
C |
A |
19: 13,005,004 (GRCm39) |
A230S |
probably benign |
Het |
Or7g19 |
T |
C |
9: 18,856,466 (GRCm39) |
I174T |
possibly damaging |
Het |
Pigu |
G |
T |
2: 155,120,549 (GRCm39) |
Y404* |
probably null |
Het |
Plaa |
A |
T |
4: 94,472,244 (GRCm39) |
|
probably null |
Het |
Plcg2 |
A |
T |
8: 118,313,296 (GRCm39) |
I487F |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,867,580 (GRCm39) |
I162T |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,001,000 (GRCm39) |
V1030D |
probably benign |
Het |
Raver2 |
C |
A |
4: 100,993,336 (GRCm39) |
S505R |
probably benign |
Het |
Samd7 |
A |
T |
3: 30,810,769 (GRCm39) |
Q262L |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,377,447 (GRCm39) |
N412Y |
probably damaging |
Het |
Sytl1 |
C |
A |
4: 132,986,667 (GRCm39) |
R91M |
probably damaging |
Het |
Tead3 |
A |
T |
17: 28,555,244 (GRCm39) |
|
probably benign |
Het |
Themis |
A |
T |
10: 28,657,882 (GRCm39) |
Q150L |
possibly damaging |
Het |
Tmem213 |
T |
C |
6: 38,086,466 (GRCm39) |
S41P |
possibly damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,894,144 (GRCm39) |
V695A |
probably damaging |
Het |
Trim23 |
A |
T |
13: 104,324,017 (GRCm39) |
T159S |
probably damaging |
Het |
Trim66 |
T |
C |
7: 109,082,944 (GRCm39) |
Y166C |
probably benign |
Het |
Troap |
A |
T |
15: 98,973,675 (GRCm39) |
T111S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,720,734 (GRCm39) |
|
probably null |
Het |
Tub |
T |
G |
7: 108,624,925 (GRCm39) |
S180A |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,851,231 (GRCm39) |
V1243A |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,120,942 (GRCm39) |
D215G |
possibly damaging |
Het |
Zfp638 |
T |
A |
6: 83,944,345 (GRCm39) |
V1021E |
probably damaging |
Het |
Zim1 |
T |
A |
7: 6,680,710 (GRCm39) |
I318F |
probably damaging |
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 |
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'- AAGGACCACTTACAGGCTCCTG -3'
(R):5'- GAAGGTAACATGCTCCCAGC -3'
Sequencing Primer
(F):5'- CTCCTGGGGCTAATGTCAC -3'
(R):5'- TAACATGCTCCCAGCCCAGC -3'
|
Posted On |
2016-10-24 |