Incidental Mutation 'R7091:Tgm4'
| ID |
550221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm4
|
| Ensembl Gene |
ENSMUSG00000025787 |
| Gene Name |
transglutaminase 4 (prostate) |
| Synonyms |
9530008N10Rik, Eapa1, experimental autoimmune prostatitis antigen 1 |
| MMRRC Submission |
045185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7091 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123034726-123067561 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123040460 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 35
(L35M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026893]
[ENSMUST00000215247]
[ENSMUST00000217607]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026893
AA Change: L35M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: L35M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transglut_N
|
8 |
118 |
4e-26 |
PFAM |
|
TGc
|
247 |
340 |
6.25e-42 |
SMART |
|
Pfam:Transglut_C
|
573 |
670 |
3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215247
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217607
AA Change: L35M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130019O22Rik |
C |
A |
7: 127,384,362 (GRCm38) |
A523S |
possibly damaging |
Het |
| Abhd18 |
A |
C |
3: 40,916,738 (GRCm38) |
I111L |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,058,663 (GRCm38) |
D11G |
probably benign |
Het |
| Ank2 |
G |
T |
3: 127,023,351 (GRCm38) |
Q472K |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,313,334 (GRCm38) |
L520H |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,692 (GRCm38) |
K205E |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,526,427 (GRCm38) |
M294L |
probably benign |
Het |
| Capn1 |
A |
G |
19: 5,991,556 (GRCm38) |
M641T |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,940,806 (GRCm38) |
D377E |
probably benign |
Het |
| Col6a2 |
C |
T |
10: 76,615,091 (GRCm38) |
V39I |
unknown |
Het |
| Crybg3 |
T |
A |
16: 59,557,168 (GRCm38) |
D1241V |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,816,142 (GRCm38) |
K3380R |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,802,474 (GRCm38) |
I1400M |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,545,101 (GRCm38) |
D219G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,708,676 (GRCm38) |
S1973G |
probably benign |
Het |
| Fsd1 |
G |
A |
17: 55,993,876 (GRCm38) |
R245H |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,496,221 (GRCm38) |
H271Q |
possibly damaging |
Het |
| Glce |
A |
G |
9: 62,060,588 (GRCm38) |
V427A |
probably damaging |
Het |
| Gm4778 |
T |
C |
3: 94,266,638 (GRCm38) |
F314L |
probably damaging |
Het |
| Gm5141 |
T |
C |
13: 62,773,964 (GRCm38) |
T464A |
possibly damaging |
Het |
| Gulp1 |
T |
A |
1: 44,766,134 (GRCm38) |
F128I |
probably damaging |
Het |
| H2-Bl |
T |
C |
17: 36,083,941 (GRCm38) |
E30G |
possibly damaging |
Het |
| Hcrtr1 |
A |
C |
4: 130,130,914 (GRCm38) |
L393W |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,726,720 (GRCm38) |
S650P |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,781,592 (GRCm38) |
N569K |
probably benign |
Het |
| Ifi206 |
A |
G |
1: 173,473,875 (GRCm38) |
F746L |
unknown |
Het |
| Ivl |
T |
C |
3: 92,572,242 (GRCm38) |
D172G |
possibly damaging |
Het |
| Lrp5 |
A |
T |
19: 3,630,184 (GRCm38) |
D433E |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,768,276 (GRCm38) |
S1826P |
possibly damaging |
Het |
| Ms4a18 |
A |
T |
19: 11,008,728 (GRCm38) |
L206M |
probably damaging |
Het |
| Msln |
A |
T |
17: 25,750,080 (GRCm38) |
C444S |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,136,402 (GRCm38) |
D644G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,809,687 (GRCm38) |
|
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,458,756 (GRCm38) |
|
probably null |
Het |
| Nadk |
A |
G |
4: 155,587,758 (GRCm38) |
H302R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,256,112 (GRCm38) |
N15I |
|
Het |
| Nup153 |
A |
T |
13: 46,683,928 (GRCm38) |
S1273T |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,072,767 (GRCm38) |
I763T |
probably damaging |
Het |
| Olfr142 |
T |
C |
2: 90,252,463 (GRCm38) |
Y175C |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,284,661 (GRCm38) |
I107V |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,511,342 (GRCm38) |
|
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,221,809 (GRCm38) |
P854S |
possibly damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,812,716 (GRCm38) |
S79P |
probably damaging |
Het |
| Reln |
T |
C |
5: 21,899,029 (GRCm38) |
I3315V |
probably null |
Het |
| Rnf223 |
T |
C |
4: 156,132,699 (GRCm38) |
V177A |
probably benign |
Het |
| Slc20a1 |
C |
T |
2: 129,208,272 (GRCm38) |
T450M |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,351,347 (GRCm38) |
P542S |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 42,002,634 (GRCm38) |
Q1333L |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,313,191 (GRCm38) |
|
probably null |
Het |
| Tdp2 |
T |
A |
13: 24,838,224 (GRCm38) |
F209I |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 109,082,512 (GRCm38) |
|
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,184,273 (GRCm38) |
V91D |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,395,697 (GRCm38) |
M39K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,713,568 (GRCm38) |
T33025S |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,965,811 (GRCm38) |
H754R |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,223,945 (GRCm38) |
Q351P |
possibly damaging |
Het |
| Wee2 |
G |
T |
6: 40,462,002 (GRCm38) |
G353V |
probably benign |
Het |
| Zfp879 |
T |
A |
11: 50,833,395 (GRCm38) |
H278L |
probably damaging |
Het |
|
| Other mutations in Tgm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Tgm4
|
APN |
9 |
123,062,382 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01402:Tgm4
|
APN |
9 |
123,051,454 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02000:Tgm4
|
APN |
9 |
123,056,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02120:Tgm4
|
APN |
9 |
123,046,529 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03130:Tgm4
|
APN |
9 |
123,056,515 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03188:Tgm4
|
APN |
9 |
123,045,036 (GRCm38) |
missense |
probably null |
0.06 |
|
R0329:Tgm4
|
UTSW |
9 |
123,048,557 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0480:Tgm4
|
UTSW |
9 |
123,062,419 (GRCm38) |
missense |
probably benign |
|
|
R0644:Tgm4
|
UTSW |
9 |
123,051,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0990:Tgm4
|
UTSW |
9 |
123,046,511 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1604:Tgm4
|
UTSW |
9 |
123,045,064 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1644:Tgm4
|
UTSW |
9 |
123,051,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2056:Tgm4
|
UTSW |
9 |
123,061,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2058:Tgm4
|
UTSW |
9 |
123,061,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2059:Tgm4
|
UTSW |
9 |
123,061,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2076:Tgm4
|
UTSW |
9 |
123,051,095 (GRCm38) |
missense |
probably benign |
0.24 |
|
R2437:Tgm4
|
UTSW |
9 |
123,048,549 (GRCm38) |
nonsense |
probably null |
|
|
R4392:Tgm4
|
UTSW |
9 |
123,066,752 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4407:Tgm4
|
UTSW |
9 |
123,056,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4752:Tgm4
|
UTSW |
9 |
123,051,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5288:Tgm4
|
UTSW |
9 |
123,056,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5365:Tgm4
|
UTSW |
9 |
123,066,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Tgm4
|
UTSW |
9 |
123,056,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5790:Tgm4
|
UTSW |
9 |
123,061,743 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5890:Tgm4
|
UTSW |
9 |
123,061,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6102:Tgm4
|
UTSW |
9 |
123,056,535 (GRCm38) |
missense |
probably benign |
|
|
R6358:Tgm4
|
UTSW |
9 |
123,056,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6956:Tgm4
|
UTSW |
9 |
123,064,703 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6966:Tgm4
|
UTSW |
9 |
123,051,142 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7258:Tgm4
|
UTSW |
9 |
123,062,491 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7313:Tgm4
|
UTSW |
9 |
123,062,491 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7369:Tgm4
|
UTSW |
9 |
123,056,684 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7802:Tgm4
|
UTSW |
9 |
123,051,336 (GRCm38) |
intron |
probably benign |
|
|
R8219:Tgm4
|
UTSW |
9 |
123,045,052 (GRCm38) |
missense |
probably benign |
|
|
R8787:Tgm4
|
UTSW |
9 |
123,061,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8936:Tgm4
|
UTSW |
9 |
123,040,476 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9045:Tgm4
|
UTSW |
9 |
123,048,551 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9328:Tgm4
|
UTSW |
9 |
123,056,632 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9359:Tgm4
|
UTSW |
9 |
123,052,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9403:Tgm4
|
UTSW |
9 |
123,052,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9471:Tgm4
|
UTSW |
9 |
123,040,379 (GRCm38) |
missense |
probably benign |
|
|
R9746:Tgm4
|
UTSW |
9 |
123,046,569 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTGCTAAGGATACCCC -3'
(R):5'- TGGTTAATGCAGCTCTCAGACC -3'
Sequencing Primer
(F):5'- AGGATACCCCTCTTCCCCTC -3'
(R):5'- AGGTCTCGGGATCAAAGTCACTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation