Incidental Mutation 'R2139:Tgm1'
| ID |
236066 |
| 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 |
040142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R2139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55947000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 336
(V336A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000168729]
[ENSMUST00000178034]
[ENSMUST00000226907]
[ENSMUST00000227958]
[ENSMUST00000228123]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002389
AA Change: V336A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: V336A
| 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 damaging
Transcript: ENSMUST00000168729
AA Change: V336A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: V336A
| 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 damaging
Transcript: ENSMUST00000178034
AA Change: V336A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: V336A
| 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 |
probably benign
Transcript: ENSMUST00000226907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228123
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,215,593 (GRCm39) |
F318I |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,074 (GRCm39) |
K221R |
probably benign |
Het |
| Cacna1b |
A |
C |
2: 24,569,485 (GRCm39) |
M813R |
probably benign |
Het |
| Chaf1a |
T |
C |
17: 56,372,226 (GRCm39) |
L798P |
probably damaging |
Het |
| Chd8 |
G |
A |
14: 52,474,428 (GRCm39) |
T201I |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,464,861 (GRCm39) |
S436P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,163 (GRCm39) |
I440M |
probably benign |
Het |
| Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,220,612 (GRCm39) |
D522G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,616,506 (GRCm39) |
M170L |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,567,895 (GRCm39) |
S1441P |
possibly damaging |
Het |
| Efcab3 |
C |
T |
11: 104,642,737 (GRCm39) |
T1120I |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,376,702 (GRCm39) |
S383T |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,288,303 (GRCm39) |
D94G |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,385,788 (GRCm39) |
V267A |
probably damaging |
Het |
| Esp38 |
T |
A |
17: 40,264,275 (GRCm39) |
I11N |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,468,740 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
A |
T |
5: 137,611,327 (GRCm39) |
S488T |
probably damaging |
Het |
| Fgfr1 |
T |
G |
8: 26,060,882 (GRCm39) |
V618G |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Gpr61 |
A |
T |
3: 108,058,077 (GRCm39) |
C195S |
probably damaging |
Het |
| Greb1l |
A |
C |
18: 10,555,011 (GRCm39) |
N1686H |
probably damaging |
Het |
| Hapln4 |
T |
C |
8: 70,540,788 (GRCm39) |
F274L |
probably benign |
Het |
| Hoxc10 |
A |
T |
15: 102,875,912 (GRCm39) |
Q207L |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,787,914 (GRCm39) |
V636A |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,905,945 (GRCm39) |
D666G |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,371,639 (GRCm39) |
I70F |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,762,548 (GRCm39) |
I112F |
probably damaging |
Het |
| Lrrc8c |
T |
G |
5: 105,754,558 (GRCm39) |
I111S |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,862,753 (GRCm39) |
N600S |
probably damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Mroh5 |
T |
A |
15: 73,661,940 (GRCm39) |
D417V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mtarc1 |
G |
A |
1: 184,527,632 (GRCm39) |
T276I |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,581,599 (GRCm39) |
I2488N |
unknown |
Het |
| Myrf |
C |
G |
19: 10,193,831 (GRCm39) |
A532P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,996 (GRCm39) |
N427S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,600 (GRCm39) |
S4315G |
probably damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,983 (GRCm39) |
D335G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,251,755 (GRCm39) |
L225P |
probably benign |
Het |
| Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
| Or4c104 |
T |
A |
2: 88,586,437 (GRCm39) |
N194I |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,961 (GRCm39) |
I175K |
possibly damaging |
Het |
| Or8s2 |
T |
C |
15: 98,276,145 (GRCm39) |
N282S |
probably damaging |
Het |
| Pcdhac2 |
T |
G |
18: 37,279,139 (GRCm39) |
Y706* |
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,190 (GRCm39) |
S335P |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,393,214 (GRCm39) |
I1850L |
possibly damaging |
Het |
| Pogz |
T |
C |
3: 94,778,318 (GRCm39) |
V304A |
possibly damaging |
Het |
| Rap1a |
T |
C |
3: 105,646,856 (GRCm39) |
I100V |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,194,123 (GRCm39) |
K201M |
probably damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,281,022 (GRCm39) |
F8S |
possibly damaging |
Het |
| St18 |
T |
G |
1: 6,880,839 (GRCm39) |
M444R |
possibly damaging |
Het |
| Syna |
G |
T |
5: 134,588,106 (GRCm39) |
S281* |
probably null |
Het |
| Tle6 |
G |
T |
10: 81,429,868 (GRCm39) |
T400K |
probably damaging |
Het |
| Tmem181a |
T |
C |
17: 6,348,481 (GRCm39) |
W328R |
probably damaging |
Het |
| Trim7 |
T |
C |
11: 48,729,721 (GRCm39) |
F193L |
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,410,046 (GRCm39) |
M178K |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r74 |
A |
G |
7: 11,581,243 (GRCm39) |
Y181C |
probably damaging |
Het |
| Vmn2r56 |
T |
A |
7: 12,446,890 (GRCm39) |
K421* |
probably null |
Het |
| Vwa7 |
T |
G |
17: 35,242,406 (GRCm39) |
S503R |
probably benign |
Het |
| Washc5 |
G |
A |
15: 59,221,991 (GRCm39) |
T135M |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,451,322 (GRCm39) |
I854V |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,148 (GRCm39) |
C632R |
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 |
|
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'- GGGCAGAAATAGAACCCTTCCC -3'
(R):5'- ACCCAGTGTTCACATTCCAG -3'
Sequencing Primer
(F):5'- TCCTCATAGAGCCCAGGC -3'
(R):5'- CACATTCCAGTGTTACAGCAGATGG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation