Incidental Mutation 'R7799:Tgm1'
| ID |
600449 |
| 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 |
045854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R7799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55949932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 92
(R92Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000062861]
[ENSMUST00000163889]
[ENSMUST00000168729]
[ENSMUST00000169237]
[ENSMUST00000178034]
[ENSMUST00000226907]
[ENSMUST00000227061]
[ENSMUST00000227958]
[ENSMUST00000228123]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000002389
AA Change: R92Q
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: R92Q
| 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: R92Q
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: R92Q
| 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: R92Q
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: R92Q
| 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: ENSMUST00000226907
AA Change: R92Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227061
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227958
AA Change: R92Q
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228123
AA Change: R92Q
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (50/51) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,362 (GRCm39) |
V1517A |
probably benign |
Het |
| Adam17 |
C |
A |
12: 21,390,493 (GRCm39) |
G410C |
probably damaging |
Het |
| Adcy3 |
A |
G |
12: 4,254,762 (GRCm39) |
D698G |
probably damaging |
Het |
| Afap1 |
T |
A |
5: 36,131,742 (GRCm39) |
N356K |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,671,713 (GRCm39) |
N132D |
probably benign |
Het |
| Bsdc1 |
T |
A |
4: 129,359,141 (GRCm39) |
|
probably null |
Het |
| Ccdc121rt2 |
T |
G |
5: 112,597,698 (GRCm39) |
Y82D |
not run |
Het |
| Ccdc47 |
T |
C |
11: 106,101,143 (GRCm39) |
E173G |
possibly damaging |
Het |
| Cit |
T |
G |
5: 116,001,027 (GRCm39) |
F142C |
probably benign |
Het |
| Cnga3 |
A |
G |
1: 37,300,852 (GRCm39) |
D524G |
probably damaging |
Het |
| Cpne8 |
T |
A |
15: 90,424,450 (GRCm39) |
D313V |
probably damaging |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
C |
A |
19: 7,073,229 (GRCm39) |
L439F |
possibly damaging |
Het |
| Gkn1 |
A |
T |
6: 87,325,163 (GRCm39) |
I82N |
probably damaging |
Het |
| Gm14410 |
C |
A |
2: 176,885,613 (GRCm39) |
C217F |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,007,590 (GRCm39) |
H102N |
probably benign |
Het |
| Gm3159 |
A |
T |
14: 4,397,585 (GRCm38) |
|
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,764,022 (GRCm39) |
V434A |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,879,782 (GRCm39) |
M612T |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,876,494 (GRCm39) |
I853N |
probably damaging |
Het |
| Kcna4 |
A |
C |
2: 107,126,237 (GRCm39) |
I324L |
possibly damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,117,183 (GRCm39) |
S690P |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,622,182 (GRCm39) |
Y194C |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,789,515 (GRCm39) |
S511P |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,559,351 (GRCm39) |
Y280C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,420,906 (GRCm39) |
I116T |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,112,112 (GRCm39) |
N496I |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,878,236 (GRCm39) |
D229G |
probably benign |
Het |
| Or2b2 |
T |
A |
13: 21,887,369 (GRCm39) |
L66Q |
probably damaging |
Het |
| Or2j6 |
A |
T |
7: 139,980,377 (GRCm39) |
M194K |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,186 (GRCm39) |
I40V |
probably benign |
Het |
| Or5p61 |
T |
A |
7: 107,758,637 (GRCm39) |
I148F |
probably benign |
Het |
| Or5w14 |
G |
T |
2: 87,541,428 (GRCm39) |
T274K |
possibly damaging |
Het |
| Pkp1 |
A |
G |
1: 135,817,695 (GRCm39) |
F147L |
possibly damaging |
Het |
| Ppp1r3e |
T |
C |
14: 55,114,672 (GRCm39) |
Q30R |
probably damaging |
Het |
| Ppp2r5b |
C |
A |
19: 6,282,628 (GRCm39) |
R174L |
probably benign |
Het |
| Pramel58 |
A |
G |
5: 94,831,287 (GRCm39) |
D98G |
possibly damaging |
Het |
| Qrfprl |
G |
T |
6: 65,433,121 (GRCm39) |
A314S |
possibly damaging |
Het |
| Rbm15 |
C |
T |
3: 107,239,459 (GRCm39) |
R313H |
probably damaging |
Het |
| Rgs18 |
A |
G |
1: 144,629,603 (GRCm39) |
F219L |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,702,985 (GRCm39) |
|
probably null |
Het |
| Sirpd |
T |
A |
3: 15,361,723 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
T |
G |
5: 115,617,805 (GRCm39) |
I284L |
probably benign |
Het |
| Slc25a11 |
A |
G |
11: 70,536,005 (GRCm39) |
V243A |
probably benign |
Het |
| Syde1 |
A |
G |
10: 78,425,741 (GRCm39) |
I142T |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,098 (GRCm39) |
E1383G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,573,245 (GRCm39) |
C423* |
probably null |
Het |
| Tfr2 |
T |
A |
5: 137,569,986 (GRCm39) |
Y131N |
possibly damaging |
Het |
| Thoc1 |
A |
T |
18: 9,984,441 (GRCm39) |
D309V |
probably damaging |
Het |
| Vmn2r24 |
C |
T |
6: 123,757,422 (GRCm39) |
H97Y |
probably benign |
Het |
| Wbp1 |
A |
T |
6: 83,097,176 (GRCm39) |
Y89* |
probably null |
Het |
| Wnk1 |
A |
G |
6: 119,926,137 (GRCm39) |
L1358P |
probably benign |
Het |
| Zfp14 |
T |
C |
7: 29,738,368 (GRCm39) |
T206A |
possibly damaging |
Het |
| Zfp748 |
T |
C |
13: 67,689,608 (GRCm39) |
T551A |
probably benign |
Het |
| Zfp9 |
A |
T |
6: 118,441,843 (GRCm39) |
V273E |
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 |
|
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'- CCACATCCATGGGTCAGTGAAG -3'
(R):5'- ACAATGGAAGGTCCTCGCTC -3'
Sequencing Primer
(F):5'- CATCCATGGGTCAGTGAAGAGTTC -3'
(R):5'- AAGGTCCTCGCTCAGACGTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation