Incidental Mutation 'R9365:Tgm1'
| ID |
708925 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R9365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55942349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 667
(N667K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000168729]
[ENSMUST00000178034]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002389
AA Change: N667K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: N667K
| 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: N667K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: N667K
| 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: N667K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: N667K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,848,035 (GRCm39) |
R481Q |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,101,555 (GRCm39) |
I77T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,889,207 (GRCm39) |
V362E |
possibly damaging |
Het |
| Bcat2 |
T |
A |
7: 45,225,294 (GRCm39) |
F57L |
probably damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,738,011 (GRCm39) |
L36F |
probably damaging |
Het |
| Ccl19 |
C |
T |
4: 42,756,288 (GRCm39) |
V15I |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,954,207 (GRCm39) |
V1688E |
possibly damaging |
Het |
| Ces1a |
A |
T |
8: 93,774,727 (GRCm39) |
F4I |
probably benign |
Het |
| Chchd6 |
G |
A |
6: 89,551,413 (GRCm39) |
P83S |
probably benign |
Het |
| Cnr1 |
T |
C |
4: 33,943,798 (GRCm39) |
M62T |
probably benign |
Het |
| Colec12 |
T |
C |
18: 9,848,146 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,894,979 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
C |
T |
14: 55,724,776 (GRCm39) |
T181I |
probably benign |
Het |
| Disc1 |
T |
C |
8: 125,851,285 (GRCm39) |
S392P |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,566,859 (GRCm39) |
F69L |
|
Het |
| Ehmt1 |
T |
C |
2: 24,728,722 (GRCm39) |
D726G |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,997,957 (GRCm39) |
L462I |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,040,697 (GRCm39) |
S774T |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,813 (GRCm39) |
S794P |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,606,973 (GRCm39) |
V646A |
probably benign |
Het |
| Gm3543 |
G |
T |
14: 41,804,093 (GRCm39) |
D57E |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,736,124 (GRCm39) |
D1831E |
probably damaging |
Het |
| Hace1 |
T |
G |
10: 45,586,092 (GRCm39) |
|
probably null |
Het |
| Irgc |
T |
C |
7: 24,131,872 (GRCm39) |
E315G |
possibly damaging |
Het |
| Ism1 |
A |
G |
2: 139,582,321 (GRCm39) |
Y211C |
probably damaging |
Het |
| Kpna1 |
T |
G |
16: 35,833,287 (GRCm39) |
V121G |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,198,521 (GRCm39) |
F250L |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,407 (GRCm39) |
T368A |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,925,169 (GRCm39) |
C467* |
probably null |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,943 (GRCm39) |
E408G |
probably benign |
Het |
| Melk |
C |
T |
4: 44,340,693 (GRCm39) |
A330V |
probably null |
Het |
| Mmp13 |
T |
G |
9: 7,277,921 (GRCm39) |
D271E |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,052,297 (GRCm39) |
T390A |
|
Het |
| Myh8 |
A |
G |
11: 67,174,632 (GRCm39) |
K249R |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,319,315 (GRCm39) |
M184L |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,885,337 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
G |
7: 45,920,688 (GRCm39) |
C964G |
probably damaging |
Het |
| Oxct2b |
T |
C |
4: 123,010,589 (GRCm39) |
S170P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,112 (GRCm39) |
S432P |
possibly damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,201 (GRCm39) |
R477S |
unknown |
Het |
| Prh1 |
G |
A |
6: 132,549,108 (GRCm39) |
G205D |
unknown |
Het |
| Psg23 |
C |
T |
7: 18,344,393 (GRCm39) |
G354D |
probably damaging |
Het |
| Pura |
T |
G |
18: 36,420,913 (GRCm39) |
D233E |
possibly damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,315,117 (GRCm39) |
L423F |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,026,620 (GRCm39) |
S15P |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,148,465 (GRCm39) |
F7L |
probably benign |
Het |
| Sftpb |
A |
T |
6: 72,284,189 (GRCm39) |
R203* |
probably null |
Het |
| Slc30a9 |
A |
G |
5: 67,507,142 (GRCm39) |
K478R |
probably damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,496,333 (GRCm39) |
M156K |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,612,327 (GRCm39) |
I232V |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,461,534 (GRCm39) |
D1527G |
probably benign |
Het |
| Srfbp1 |
T |
G |
18: 52,623,540 (GRCm39) |
V389G |
possibly damaging |
Het |
| Sun2 |
C |
T |
15: 79,622,720 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
T |
14: 51,064,597 (GRCm39) |
A2386D |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,564 (GRCm39) |
S1331R |
possibly damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,862,191 (GRCm39) |
H150R |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,099,712 (GRCm39) |
N1161S |
possibly damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,064 (GRCm39) |
D312E |
probably damaging |
Het |
| Wdr55 |
T |
G |
18: 36,893,354 (GRCm39) |
C5W |
probably damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,332,540 (GRCm39) |
P405Q |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,079,591 (GRCm39) |
I789F |
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 |
|
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 |
|
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'- AACCTTCTCCGAAAAGGCTC -3'
(R):5'- GGTATCCAAGTACTATGGCTTTCAC -3'
Sequencing Primer
(F):5'- AAGGCTCATCAGGGTAACTTGTCTC -3'
(R):5'- ACTATGGCTTTCACATGGAGGCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation