Incidental Mutation 'R3710:Tgm1'
ID |
259562 |
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 |
040703-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R3710 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 55950052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000062861]
[ENSMUST00000163889]
[ENSMUST00000168729]
[ENSMUST00000169237]
[ENSMUST00000178034]
[ENSMUST00000227958]
[ENSMUST00000228123]
[ENSMUST00000226907]
[ENSMUST00000227061]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000002389
AA Change: G52V
|
SMART Domains |
Protein: ENSMUSP00000002389 Gene: ENSMUSG00000022218 AA Change: G52V
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 |
unknown
Transcript: ENSMUST00000168729
AA Change: G52V
|
SMART Domains |
Protein: ENSMUSP00000128090 Gene: ENSMUSG00000022218 AA Change: G52V
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 |
unknown
Transcript: ENSMUST00000178034
AA Change: G52V
|
SMART Domains |
Protein: ENSMUSP00000137642 Gene: ENSMUSG00000022218 AA Change: G52V
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 |
unknown
Transcript: ENSMUST00000227958
AA Change: G52V
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228123
AA Change: G52V
|
Predicted Effect |
unknown
Transcript: ENSMUST00000226907
AA Change: G52V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227061
|
Meta Mutation Damage Score |
0.5090 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (55/56) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,636,152 (GRCm39) |
D563N |
probably benign |
Het |
Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
Ank1 |
A |
G |
8: 23,577,095 (GRCm39) |
D200G |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,470,808 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
C |
A |
19: 57,645,546 (GRCm39) |
H469N |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bud23 |
A |
C |
5: 135,085,204 (GRCm39) |
S41A |
possibly damaging |
Het |
Car12 |
G |
T |
9: 66,658,260 (GRCm39) |
A21S |
probably damaging |
Het |
Cav3 |
T |
A |
6: 112,436,774 (GRCm39) |
M1K |
probably null |
Het |
Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,888,788 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Csn3 |
C |
A |
5: 88,077,882 (GRCm39) |
N129K |
possibly damaging |
Het |
Diaph1 |
C |
A |
18: 37,978,537 (GRCm39) |
G1209W |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,735,174 (GRCm39) |
T1051A |
probably damaging |
Het |
Gm1965 |
A |
T |
6: 89,122,407 (GRCm39) |
|
noncoding transcript |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gsto1 |
T |
C |
19: 47,847,971 (GRCm39) |
|
probably null |
Het |
Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,509,972 (GRCm39) |
|
probably benign |
Het |
Mtmr10 |
C |
A |
7: 63,976,433 (GRCm39) |
A410D |
possibly damaging |
Het |
Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,173,635 (GRCm39) |
S420P |
probably benign |
Het |
Nlrp4c |
T |
A |
7: 6,068,627 (GRCm39) |
V176E |
probably damaging |
Het |
Ogfod1 |
A |
T |
8: 94,784,380 (GRCm39) |
K313* |
probably null |
Het |
Or5an1 |
T |
G |
19: 12,260,450 (GRCm39) |
F13V |
probably damaging |
Het |
Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
Otof |
A |
T |
5: 30,542,610 (GRCm39) |
M661K |
probably benign |
Het |
Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
Rimbp2 |
G |
A |
5: 128,866,795 (GRCm39) |
T508I |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,037,991 (GRCm39) |
C393* |
probably null |
Het |
Rps17 |
T |
A |
7: 80,994,672 (GRCm39) |
T30S |
probably benign |
Het |
Rps3 |
T |
C |
7: 99,128,626 (GRCm39) |
K197R |
probably benign |
Het |
Samd11 |
G |
A |
4: 156,334,952 (GRCm39) |
L109F |
probably damaging |
Het |
Smarca2 |
T |
G |
19: 26,646,290 (GRCm39) |
|
probably benign |
Het |
Sprr2g |
C |
A |
3: 92,282,036 (GRCm39) |
P30Q |
unknown |
Het |
Spz1 |
G |
A |
13: 92,711,631 (GRCm39) |
Q282* |
probably null |
Het |
Syne3 |
A |
G |
12: 104,909,697 (GRCm39) |
L713P |
possibly damaging |
Het |
Tomm22 |
T |
C |
15: 79,555,419 (GRCm39) |
F55L |
probably damaging |
Het |
Tph2 |
T |
A |
10: 115,009,963 (GRCm39) |
Y199F |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,682,932 (GRCm39) |
F757L |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,055,601 (GRCm39) |
T846S |
probably benign |
Het |
Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
Zc3hav1 |
A |
C |
6: 38,309,097 (GRCm39) |
M575R |
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 |
|
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'- AGGTTCCATAAAGGCTCAGCTC -3'
(R):5'- GAGTGAATGAGCACCCTCTG -3'
Sequencing Primer
(F):5'- CCATAAAGGCTCAGCTCTAGGTTAAG -3'
(R):5'- GTCTCTTCTACACAGGCACAATGG -3'
|
Posted On |
2015-01-23 |