Incidental Mutation 'R4697:Tgm1'
| ID |
355796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm1
|
| Ensembl Gene |
ENSMUSG00000022218 |
| Gene Name |
transglutaminase 1, K polypeptide |
| Synonyms |
TG K, TGase 1, protein-glutamine-gamma-glutamyltransferase, K polypeptide, 2310004J08Rik |
| MMRRC Submission |
041947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R4697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55700009-55713926 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55705681 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 567
(N567K)
|
| 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: N567K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: N567K
| 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: N567K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: N567K
| 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: N567K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: N567K
| 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 |
0.0953 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (75/78) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624J02Rik |
T |
A |
7: 118,791,448 (GRCm38) |
I455N |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,638,284 (GRCm38) |
M1T |
probably null |
Het |
| Aatf |
T |
A |
11: 84,449,138 (GRCm38) |
D449V |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,721,944 (GRCm38) |
|
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,953,484 (GRCm38) |
I366F |
possibly damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,649,749 (GRCm38) |
S184P |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,525,485 (GRCm38) |
V401A |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 121,873,753 (GRCm38) |
T540A |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,791,684 (GRCm38) |
E966* |
probably null |
Het |
| Dpp7 |
A |
G |
2: 25,354,919 (GRCm38) |
Y209H |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,449,487 (GRCm38) |
F277Y |
probably damaging |
Het |
| Dtx1 |
A |
T |
5: 120,694,408 (GRCm38) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,047,060 (GRCm38) |
|
noncoding transcript |
Het |
| Ednra |
T |
C |
8: 77,664,995 (GRCm38) |
H422R |
probably benign |
Het |
| Erlec1 |
T |
A |
11: 30,952,640 (GRCm38) |
I67F |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,348,558 (GRCm38) |
|
probably benign |
Het |
| Gata5 |
A |
T |
2: 180,327,379 (GRCm38) |
C345* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,328,274 (GRCm38) |
V47A |
probably damaging |
Het |
| Gm9762 |
T |
A |
3: 78,966,550 (GRCm38) |
|
noncoding transcript |
Het |
| Gnas |
A |
T |
2: 174,298,080 (GRCm38) |
D14V |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 31,017,329 (GRCm38) |
S53G |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,548,466 (GRCm38) |
V527M |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,694,187 (GRCm38) |
L281* |
probably null |
Het |
| Kif16b |
T |
G |
2: 142,690,694 (GRCm38) |
Y1175S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,576,846 (GRCm38) |
S204P |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,778,734 (GRCm38) |
I320N |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,708,147 (GRCm38) |
R693Q |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 71,025,326 (GRCm38) |
K62E |
possibly damaging |
Het |
| Mlc1 |
A |
G |
15: 88,974,777 (GRCm38) |
C102R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,857,361 (GRCm38) |
I1348T |
unknown |
Het |
| Myh7b |
A |
G |
2: 155,629,322 (GRCm38) |
E1130G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,901,386 (GRCm38) |
T52A |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,320,521 (GRCm38) |
V379L |
probably benign |
Het |
| Or10ad1c |
G |
A |
15: 98,186,868 (GRCm38) |
R310W |
probably damaging |
Het |
| Or4c1 |
C |
A |
2: 89,302,902 (GRCm38) |
S230I |
possibly damaging |
Het |
| Or4c1 |
T |
A |
2: 89,302,903 (GRCm38) |
S230C |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,313,717 (GRCm38) |
D189E |
probably benign |
Het |
| Or5b12 |
C |
T |
19: 12,919,934 (GRCm38) |
C125Y |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,717,208 (GRCm38) |
Y756F |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,959,241 (GRCm38) |
Y284N |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,126,347 (GRCm38) |
V1367A |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,375,071 (GRCm38) |
N484K |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 78,961,171 (GRCm38) |
V572I |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,787,183 (GRCm38) |
S1005G |
probably benign |
Het |
| Radil |
G |
T |
5: 142,486,801 (GRCm38) |
D951E |
probably benign |
Het |
| Ripk1 |
C |
T |
13: 34,027,942 (GRCm38) |
R352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,212,747 (GRCm38) |
F4081L |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,315,085 (GRCm38) |
V11A |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,934,587 (GRCm38) |
F536I |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,638,284 (GRCm38) |
L381P |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,052,641 (GRCm38) |
P71L |
probably benign |
Het |
| Spns1 |
T |
A |
7: 126,377,037 (GRCm38) |
D14V |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 95,986,018 (GRCm38) |
I417F |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,893,516 (GRCm38) |
M169K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,522,240 (GRCm38) |
K1543E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,395,461 (GRCm38) |
R76Q |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,853,791 (GRCm38) |
V1340A |
probably benign |
Het |
| Tspan18 |
A |
T |
2: 93,312,030 (GRCm38) |
|
probably null |
Het |
| Txndc11 |
C |
T |
16: 11,084,314 (GRCm38) |
V679I |
probably damaging |
Het |
| Usf1 |
G |
T |
1: 171,416,964 (GRCm38) |
G144V |
possibly damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,454,452 (GRCm38) |
Y103C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,741,826 (GRCm38) |
I713F |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 87,037,960 (GRCm38) |
I850F |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 25,855,363 (GRCm38) |
R676H |
probably benign |
Het |
| Zfp867 |
G |
A |
11: 59,463,661 (GRCm38) |
R281W |
probably damaging |
Het |
| Zfp939 |
T |
C |
7: 39,472,942 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Tgm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02206:Tgm1
|
APN |
14 |
55,704,935 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02934:Tgm1
|
APN |
14 |
55,709,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03243:Tgm1
|
APN |
14 |
55,705,907 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03282:Tgm1
|
APN |
14 |
55,711,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4458001:Tgm1
|
UTSW |
14 |
55,712,565 (GRCm38) |
missense |
unknown |
|
|
R0277:Tgm1
|
UTSW |
14 |
55,712,652 (GRCm38) |
unclassified |
probably benign |
|
|
R0277:Tgm1
|
UTSW |
14 |
55,710,927 (GRCm38) |
unclassified |
probably benign |
|
|
R0478:Tgm1
|
UTSW |
14 |
55,700,334 (GRCm38) |
nonsense |
probably null |
|
|
R1349:Tgm1
|
UTSW |
14 |
55,711,201 (GRCm38) |
unclassified |
probably benign |
|
|
R1594:Tgm1
|
UTSW |
14 |
55,709,519 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1776:Tgm1
|
UTSW |
14 |
55,709,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1852:Tgm1
|
UTSW |
14 |
55,704,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1988:Tgm1
|
UTSW |
14 |
55,705,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2064:Tgm1
|
UTSW |
14 |
55,709,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2139:Tgm1
|
UTSW |
14 |
55,709,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2427:Tgm1
|
UTSW |
14 |
55,712,100 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3710:Tgm1
|
UTSW |
14 |
55,712,595 (GRCm38) |
unclassified |
probably benign |
|
|
R3917:Tgm1
|
UTSW |
14 |
55,712,757 (GRCm38) |
splice site |
probably benign |
|
|
R4804:Tgm1
|
UTSW |
14 |
55,705,619 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5074:Tgm1
|
UTSW |
14 |
55,709,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5341:Tgm1
|
UTSW |
14 |
55,700,248 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5346:Tgm1
|
UTSW |
14 |
55,711,172 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5557:Tgm1
|
UTSW |
14 |
55,705,643 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5566:Tgm1
|
UTSW |
14 |
55,712,436 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5828:Tgm1
|
UTSW |
14 |
55,705,554 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6802:Tgm1
|
UTSW |
14 |
55,712,482 (GRCm38) |
unclassified |
probably benign |
|
|
R7017:Tgm1
|
UTSW |
14 |
55,704,941 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7094:Tgm1
|
UTSW |
14 |
55,704,843 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7549:Tgm1
|
UTSW |
14 |
55,705,903 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7731:Tgm1
|
UTSW |
14 |
55,710,521 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7799:Tgm1
|
UTSW |
14 |
55,712,475 (GRCm38) |
missense |
unknown |
|
|
R7915:Tgm1
|
UTSW |
14 |
55,700,426 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7956:Tgm1
|
UTSW |
14 |
55,708,895 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8098:Tgm1
|
UTSW |
14 |
55,710,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8190:Tgm1
|
UTSW |
14 |
55,704,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8423:Tgm1
|
UTSW |
14 |
55,705,643 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8493:Tgm1
|
UTSW |
14 |
55,700,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8859:Tgm1
|
UTSW |
14 |
55,712,229 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9170:Tgm1
|
UTSW |
14 |
55,708,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9300:Tgm1
|
UTSW |
14 |
55,704,846 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9365:Tgm1
|
UTSW |
14 |
55,704,892 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9407:Tgm1
|
UTSW |
14 |
55,705,534 (GRCm38) |
nonsense |
probably null |
|
|
R9499:Tgm1
|
UTSW |
14 |
55,713,476 (GRCm38) |
start gained |
probably benign |
|
|
R9520:Tgm1
|
UTSW |
14 |
55,704,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9552:Tgm1
|
UTSW |
14 |
55,713,476 (GRCm38) |
start gained |
probably benign |
|
|
R9664:Tgm1
|
UTSW |
14 |
55,710,984 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGACACCAGTGTAGTAGG -3'
(R):5'- CATTGTCACAAAGGCGATCCAC -3'
Sequencing Primer
(F):5'- CACCAGTGTAGTAGGTGACAC -3'
(R):5'- GATCCACTCCAACAATCGAGAGG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation