Incidental Mutation 'R3917:Tgm1'
ID |
359674 |
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 |
040914-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R3917 (G1)
|
Quality Score |
99 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 55950214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000062861]
[ENSMUST00000163889]
[ENSMUST00000168729]
[ENSMUST00000169237]
[ENSMUST00000178034]
[ENSMUST00000227061]
[ENSMUST00000227958]
[ENSMUST00000228123]
[ENSMUST00000226907]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002389
|
SMART Domains |
Protein: ENSMUSP00000002389 Gene: ENSMUSG00000022218
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: ENSMUST00000062861
|
SMART Domains |
Protein: ENSMUSP00000061498 Gene: ENSMUSG00000040472
Domain | Start | End | E-Value | Type |
Pfam:PPTA
|
47 |
77 |
2.9e-8 |
PFAM |
Pfam:PPTA
|
91 |
121 |
2e-12 |
PFAM |
Pfam:PPTA
|
127 |
156 |
7.6e-11 |
PFAM |
Pfam:PPTA
|
162 |
192 |
3.8e-12 |
PFAM |
Pfam:PPTA
|
210 |
240 |
7.8e-12 |
PFAM |
Pfam:RabGGT_insert
|
243 |
346 |
5.3e-47 |
PFAM |
LRR
|
462 |
485 |
1.62e0 |
SMART |
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163889
|
SMART Domains |
Protein: ENSMUSP00000128668 Gene: ENSMUSG00000040472
Domain | Start | End | E-Value | Type |
Pfam:PPTA
|
47 |
77 |
2.9e-8 |
PFAM |
Pfam:PPTA
|
91 |
121 |
2e-12 |
PFAM |
Pfam:PPTA
|
127 |
156 |
7.6e-11 |
PFAM |
Pfam:PPTA
|
162 |
192 |
3.8e-12 |
PFAM |
Pfam:PPTA
|
210 |
240 |
7.8e-12 |
PFAM |
Pfam:RabGGT_insert
|
243 |
346 |
5.3e-47 |
PFAM |
LRR
|
462 |
485 |
1.62e0 |
SMART |
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168729
|
SMART Domains |
Protein: ENSMUSP00000128090 Gene: ENSMUSG00000022218
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: ENSMUST00000169237
|
SMART Domains |
Protein: ENSMUSP00000133032 Gene: ENSMUSG00000040472
Domain | Start | End | E-Value | Type |
Pfam:PPTA
|
92 |
119 |
3.6e-12 |
PFAM |
Pfam:PPTA
|
128 |
154 |
1.2e-10 |
PFAM |
Pfam:PPTA
|
163 |
190 |
2e-11 |
PFAM |
Pfam:PPTA
|
211 |
238 |
9e-12 |
PFAM |
Pfam:RabGGT_insert
|
244 |
346 |
1.9e-46 |
PFAM |
LRR
|
462 |
485 |
1.62e0 |
SMART |
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178034
|
SMART Domains |
Protein: ENSMUSP00000137642 Gene: ENSMUSG00000022218
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: ENSMUST00000226209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228899
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228123
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226907
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
97% (74/76) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
A |
G |
5: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
Apol11b |
A |
G |
15: 77,519,504 (GRCm39) |
I192T |
probably benign |
Het |
Appl1 |
A |
T |
14: 26,650,561 (GRCm39) |
F537Y |
probably damaging |
Het |
Atad5 |
A |
C |
11: 79,994,120 (GRCm39) |
K785N |
probably null |
Het |
Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
Bcam |
T |
C |
7: 19,499,375 (GRCm39) |
Y216C |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,464,292 (GRCm39) |
E1352G |
probably damaging |
Het |
C030005K15Rik |
A |
C |
10: 97,561,453 (GRCm39) |
S93A |
unknown |
Het |
Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
Ccdc88c |
A |
G |
12: 100,907,366 (GRCm39) |
|
probably null |
Het |
Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
Ccnt1 |
A |
G |
15: 98,441,940 (GRCm39) |
S443P |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
T |
C |
1: 179,933,719 (GRCm39) |
|
probably null |
Het |
Cdk11b |
T |
C |
4: 155,711,258 (GRCm39) |
S47P |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,886,189 (GRCm39) |
D142G |
probably benign |
Het |
Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Dock7 |
T |
C |
4: 98,904,922 (GRCm39) |
Y651C |
probably damaging |
Het |
Fzd3 |
A |
T |
14: 65,473,379 (GRCm39) |
F130I |
probably damaging |
Het |
Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
Gm1043 |
G |
A |
5: 37,350,285 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,806,760 (GRCm39) |
F144L |
probably benign |
Het |
Gm21961 |
A |
T |
15: 64,886,733 (GRCm39) |
D7E |
unknown |
Het |
Gtf3a |
A |
G |
5: 146,892,244 (GRCm39) |
K332E |
probably benign |
Het |
Haao |
A |
G |
17: 84,146,228 (GRCm39) |
|
probably null |
Het |
Habp2 |
T |
A |
19: 56,299,611 (GRCm39) |
C170S |
probably damaging |
Het |
Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
G |
9: 66,341,748 (GRCm39) |
C1846G |
possibly damaging |
Het |
Hivep3 |
T |
C |
4: 119,956,624 (GRCm39) |
S1647P |
probably benign |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,286,625 (GRCm39) |
E3648G |
probably damaging |
Het |
Jaml |
T |
C |
9: 45,012,449 (GRCm39) |
|
probably benign |
Het |
Jund |
C |
T |
8: 71,151,673 (GRCm39) |
|
probably benign |
Het |
Klra14-ps |
T |
C |
6: 130,134,595 (GRCm39) |
|
noncoding transcript |
Het |
Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
Myd88 |
T |
C |
9: 119,170,464 (GRCm39) |
|
probably benign |
Het |
Myo1d |
A |
T |
11: 80,557,404 (GRCm39) |
V512E |
probably damaging |
Het |
Ndufv1 |
A |
G |
19: 4,060,002 (GRCm39) |
Y33H |
probably damaging |
Het |
Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
Or10al2 |
T |
A |
17: 37,983,684 (GRCm39) |
F257I |
probably damaging |
Het |
Or8b37 |
A |
T |
9: 37,958,841 (GRCm39) |
I108F |
probably damaging |
Het |
Patj |
A |
T |
4: 98,480,245 (GRCm39) |
K1317* |
probably null |
Het |
Pld5 |
A |
G |
1: 175,791,504 (GRCm39) |
S501P |
probably benign |
Het |
Pnpo |
A |
G |
11: 96,830,583 (GRCm39) |
V146A |
probably damaging |
Het |
Ppdpf |
A |
G |
2: 180,829,521 (GRCm39) |
Y16C |
probably benign |
Het |
Ppp1r27 |
A |
G |
11: 120,441,785 (GRCm39) |
V32A |
possibly damaging |
Het |
Rbm28 |
T |
C |
6: 29,154,788 (GRCm39) |
D294G |
probably benign |
Het |
Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
Shank3 |
A |
G |
15: 89,387,587 (GRCm39) |
D252G |
possibly damaging |
Het |
Slc29a1 |
A |
T |
17: 45,899,899 (GRCm39) |
|
probably null |
Het |
Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,561,617 (GRCm39) |
S50P |
probably damaging |
Het |
Slfn8 |
A |
T |
11: 82,907,819 (GRCm39) |
Y241* |
probably null |
Het |
Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
Smad2 |
T |
A |
18: 76,421,008 (GRCm39) |
D82E |
probably benign |
Het |
Spx |
A |
C |
6: 142,359,757 (GRCm39) |
E33A |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,860,976 (GRCm39) |
Y205C |
probably damaging |
Het |
Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
Tnks |
A |
G |
8: 35,320,515 (GRCm39) |
S719P |
probably damaging |
Het |
Trip6 |
A |
G |
5: 137,311,941 (GRCm39) |
C47R |
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r57 |
A |
T |
7: 5,223,630 (GRCm39) |
N52Y |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,464,620 (GRCm39) |
F557L |
probably benign |
Het |
Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
possibly damaging |
Het |
Zfp1005 |
T |
A |
2: 150,108,039 (GRCm39) |
|
probably benign |
Het |
Zic4 |
C |
A |
9: 91,266,394 (GRCm39) |
|
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 |
|
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'- CTCTGTTCCCACATGAGCAG -3'
(R):5'- GGTTTCTCCACTGGACATCTG -3'
Sequencing Primer
(F):5'- TCCCACATGAGCAGCAGCC -3'
(R):5'- CTGCAATATAAGGTGCTTCTTCTG -3'
|
Posted On |
2015-11-13 |