Incidental Mutation 'R5341:Tgm1'
| ID |
422351 |
| 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 |
042920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R5341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55937466-55951378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55937705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 801
(S801R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002389]
[ENSMUST00000168729]
[ENSMUST00000178034]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002389
AA Change: S801R
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: S801R
| 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 |
possibly damaging
Transcript: ENSMUST00000168729
AA Change: S801R
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: S801R
| 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 |
possibly damaging
Transcript: ENSMUST00000178034
AA Change: S801R
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: S801R
| 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 |
0.0751 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
97% (64/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,223,236 (GRCm39) |
D15G |
unknown |
Het |
| Actr5 |
C |
A |
2: 158,467,144 (GRCm39) |
S28* |
probably null |
Het |
| Adcy1 |
A |
C |
11: 7,080,375 (GRCm39) |
M373L |
probably damaging |
Het |
| Adcyap1r1 |
C |
G |
6: 55,455,054 (GRCm39) |
F111L |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,113,957 (GRCm39) |
F27I |
possibly damaging |
Het |
| Art5 |
C |
A |
7: 101,747,306 (GRCm39) |
V158L |
probably benign |
Het |
| Bora |
T |
A |
14: 99,305,530 (GRCm39) |
Y300N |
probably damaging |
Het |
| Cd300a |
A |
G |
11: 114,784,288 (GRCm39) |
T99A |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,381,431 (GRCm39) |
Y607C |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,328,406 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,756,342 (GRCm39) |
|
probably benign |
Het |
| Cstdc7 |
A |
G |
18: 42,306,496 (GRCm39) |
D21G |
possibly damaging |
Het |
| Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,219,534 (GRCm39) |
E136G |
possibly damaging |
Het |
| Enox1 |
A |
C |
14: 77,815,096 (GRCm39) |
T85P |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,055,926 (GRCm39) |
L158P |
probably damaging |
Het |
| Gbgt1 |
C |
A |
2: 28,395,019 (GRCm39) |
T219N |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,225,707 (GRCm39) |
D373G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,008,336 (GRCm39) |
Q1645K |
possibly damaging |
Het |
| Iqce |
A |
C |
5: 140,675,814 (GRCm39) |
M114R |
possibly damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,785,892 (GRCm39) |
K396* |
probably null |
Het |
| Lrrk2 |
A |
T |
15: 91,657,061 (GRCm39) |
D1785V |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,687 (GRCm39) |
M226K |
probably damaging |
Het |
| Mcmdc2 |
ATAAAAAAAAAGGAAAAATTACCTT |
AT |
1: 10,011,142 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,781,522 (GRCm39) |
V564A |
probably damaging |
Het |
| Mmp17 |
A |
T |
5: 129,679,193 (GRCm39) |
D364V |
possibly damaging |
Het |
| Mrgpre |
T |
C |
7: 143,335,246 (GRCm39) |
N86D |
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,087,745 (GRCm39) |
|
probably benign |
Het |
| Or2r11 |
A |
T |
6: 42,437,098 (GRCm39) |
L285Q |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,982 (GRCm39) |
I174K |
probably damaging |
Het |
| Pate11 |
A |
T |
9: 36,388,357 (GRCm39) |
K61* |
probably null |
Het |
| Pax5 |
T |
C |
4: 44,697,630 (GRCm39) |
D35G |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,281,440 (GRCm39) |
T473S |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,542,987 (GRCm39) |
|
probably null |
Het |
| Pygo2 |
C |
A |
3: 89,340,067 (GRCm39) |
P155Q |
probably damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,285,266 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
A |
G |
5: 53,799,425 (GRCm39) |
E80G |
possibly damaging |
Het |
| Sbno1 |
A |
C |
5: 124,546,538 (GRCm39) |
|
probably null |
Het |
| Slc1a1 |
T |
A |
19: 28,874,968 (GRCm39) |
V182E |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,120,671 (GRCm39) |
F419I |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,343,886 (GRCm39) |
V62A |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,858 (GRCm39) |
S471P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,436,549 (GRCm39) |
S1270C |
probably damaging |
Het |
| Stk11 |
A |
T |
10: 79,962,094 (GRCm39) |
T83S |
probably benign |
Het |
| Syt13 |
A |
G |
2: 92,783,897 (GRCm39) |
E389G |
probably benign |
Het |
| Taf10 |
T |
C |
7: 105,390,139 (GRCm39) |
|
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,665,942 (GRCm39) |
T155S |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,047 (GRCm39) |
F628L |
possibly damaging |
Het |
| Tmem171 |
G |
T |
13: 98,824,956 (GRCm39) |
P225T |
probably damaging |
Het |
| Tspan12 |
A |
T |
6: 21,835,458 (GRCm39) |
C72S |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,853,964 (GRCm39) |
T458A |
probably benign |
Het |
| Txndc9 |
A |
G |
1: 38,026,704 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
C |
A |
1: 169,971,000 (GRCm39) |
C464F |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,087 (GRCm39) |
Y99* |
probably null |
Het |
| Usp35 |
T |
C |
7: 96,975,134 (GRCm39) |
Y13C |
probably damaging |
Het |
| Vmn1r6 |
T |
G |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,497,788 (GRCm39) |
I484L |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,347,092 (GRCm39) |
S1824T |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,311,915 (GRCm39) |
V19A |
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,524,095 (GRCm39) |
|
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,472 (GRCm39) |
C324S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,766,122 (GRCm39) |
D803N |
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 |
|
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'- CAAATGAAGAGCGACTGCCTCC -3'
(R):5'- ACCCGTAGCCAAGGTTCATG -3'
Sequencing Primer
(F):5'- CCCAGGTGCCCCAGTCTTC -3'
(R):5'- GTAGCCAAGGTTCATGACACTGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation