Incidental Mutation 'R7091:Tgm4'
ID |
550221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgm4
|
Ensembl Gene |
ENSMUSG00000025787 |
Gene Name |
transglutaminase 4 (prostate) |
Synonyms |
Eapa1, 9530008N10Rik, experimental autoimmune prostatitis antigen 1 |
MMRRC Submission |
045185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R7091 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 122869525 bp (GRCm39)
|
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 |
Abhd18 |
A |
C |
3: 40,871,173 (GRCm39) |
I111L |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,548,679 (GRCm39) |
D11G |
probably benign |
Het |
Ank2 |
G |
T |
3: 126,817,000 (GRCm39) |
Q472K |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,470,677 (GRCm39) |
L520H |
probably damaging |
Het |
Baat |
T |
C |
4: 49,499,692 (GRCm39) |
K205E |
probably benign |
Het |
Brca1 |
T |
A |
11: 101,417,253 (GRCm39) |
M294L |
probably benign |
Het |
Capn1 |
A |
G |
19: 6,041,586 (GRCm39) |
M641T |
possibly damaging |
Het |
Cluap1 |
T |
A |
16: 3,758,670 (GRCm39) |
D377E |
probably benign |
Het |
Col6a2 |
C |
T |
10: 76,450,925 (GRCm39) |
V39I |
unknown |
Het |
Crybg3 |
T |
A |
16: 59,377,531 (GRCm39) |
D1241V |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,893,206 (GRCm39) |
K3380R |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,768,733 (GRCm39) |
I1400M |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,522,062 (GRCm39) |
D219G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,856,535 (GRCm39) |
S1973G |
probably benign |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
G3bp1 |
T |
A |
11: 55,387,047 (GRCm39) |
H271Q |
possibly damaging |
Het |
Glce |
A |
G |
9: 61,967,870 (GRCm39) |
V427A |
probably damaging |
Het |
Gm5141 |
T |
C |
13: 62,921,778 (GRCm39) |
T464A |
possibly damaging |
Het |
Gulp1 |
T |
A |
1: 44,805,294 (GRCm39) |
F128I |
probably damaging |
Het |
H2-T13 |
T |
C |
17: 36,394,833 (GRCm39) |
E30G |
possibly damaging |
Het |
Hcrtr1 |
A |
C |
4: 130,024,707 (GRCm39) |
L393W |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,547,090 (GRCm39) |
S650P |
probably benign |
Het |
Hspa4l |
T |
A |
3: 40,736,024 (GRCm39) |
N569K |
probably benign |
Het |
Ifi206 |
A |
G |
1: 173,301,441 (GRCm39) |
F746L |
unknown |
Het |
Ivl |
T |
C |
3: 92,479,549 (GRCm39) |
D172G |
possibly damaging |
Het |
Lrp5 |
A |
T |
19: 3,680,184 (GRCm39) |
D433E |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,745,210 (GRCm39) |
S1826P |
possibly damaging |
Het |
Ms4a18 |
A |
T |
19: 10,986,092 (GRCm39) |
L206M |
probably damaging |
Het |
Msln |
A |
T |
17: 25,969,054 (GRCm39) |
C444S |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,100,022 (GRCm39) |
D644G |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
Naa15 |
T |
C |
3: 51,366,177 (GRCm39) |
|
probably null |
Het |
Nadk |
A |
G |
4: 155,672,215 (GRCm39) |
H302R |
probably benign |
Het |
Neb |
T |
A |
2: 52,146,124 (GRCm39) |
N15I |
|
Het |
Nup153 |
A |
T |
13: 46,837,404 (GRCm39) |
S1273T |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,226,243 (GRCm39) |
I763T |
probably damaging |
Het |
Or4b13 |
T |
C |
2: 90,082,807 (GRCm39) |
Y175C |
probably damaging |
Het |
Oxsr1 |
T |
C |
9: 119,113,727 (GRCm39) |
I107V |
probably benign |
Het |
Prmt5 |
A |
G |
14: 54,748,799 (GRCm39) |
|
probably null |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ranbp6 |
A |
G |
19: 29,790,116 (GRCm39) |
S79P |
probably damaging |
Het |
Reln |
T |
C |
5: 22,104,027 (GRCm39) |
I3315V |
probably null |
Het |
Rnf223 |
T |
C |
4: 156,217,156 (GRCm39) |
V177A |
probably benign |
Het |
Slc20a1 |
C |
T |
2: 129,050,192 (GRCm39) |
T450M |
possibly damaging |
Het |
Smg5 |
C |
T |
3: 88,258,654 (GRCm39) |
P542S |
probably benign |
Het |
Sorl1 |
T |
A |
9: 41,913,930 (GRCm39) |
Q1333L |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,204,017 (GRCm39) |
|
probably null |
Het |
Spopfm1 |
T |
C |
3: 94,173,945 (GRCm39) |
F314L |
probably damaging |
Het |
Tdp2 |
T |
A |
13: 25,022,207 (GRCm39) |
F209I |
probably damaging |
Het |
Tma7 |
A |
G |
9: 108,911,580 (GRCm39) |
|
probably benign |
Het |
Tmprss4 |
A |
T |
9: 45,095,571 (GRCm39) |
V91D |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,223,268 (GRCm39) |
M39K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,543,912 (GRCm39) |
T33025S |
probably benign |
Het |
Tut1 |
A |
G |
19: 8,943,175 (GRCm39) |
H754R |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,200,904 (GRCm39) |
Q351P |
possibly damaging |
Het |
Wee2 |
G |
T |
6: 40,438,936 (GRCm39) |
G353V |
probably benign |
Het |
Zfp747l1 |
C |
A |
7: 126,983,534 (GRCm39) |
A523S |
possibly damaging |
Het |
Zfp879 |
T |
A |
11: 50,724,222 (GRCm39) |
H278L |
probably damaging |
Het |
|
Other mutations in Tgm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00432:Tgm4
|
APN |
9 |
122,891,447 (GRCm39) |
unclassified |
probably benign |
|
IGL01402:Tgm4
|
APN |
9 |
122,880,519 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02000:Tgm4
|
APN |
9 |
122,885,531 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02120:Tgm4
|
APN |
9 |
122,875,594 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03130:Tgm4
|
APN |
9 |
122,885,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03188:Tgm4
|
APN |
9 |
122,874,101 (GRCm39) |
missense |
probably null |
0.06 |
R0329:Tgm4
|
UTSW |
9 |
122,877,622 (GRCm39) |
critical splice donor site |
probably null |
|
R0480:Tgm4
|
UTSW |
9 |
122,891,484 (GRCm39) |
missense |
probably benign |
|
R0644:Tgm4
|
UTSW |
9 |
122,880,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R0990:Tgm4
|
UTSW |
9 |
122,875,576 (GRCm39) |
missense |
probably benign |
0.02 |
R1604:Tgm4
|
UTSW |
9 |
122,874,129 (GRCm39) |
missense |
probably benign |
0.39 |
R1644:Tgm4
|
UTSW |
9 |
122,880,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Tgm4
|
UTSW |
9 |
122,890,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Tgm4
|
UTSW |
9 |
122,890,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R2059:Tgm4
|
UTSW |
9 |
122,890,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R2076:Tgm4
|
UTSW |
9 |
122,880,160 (GRCm39) |
missense |
probably benign |
0.24 |
R2437:Tgm4
|
UTSW |
9 |
122,877,614 (GRCm39) |
nonsense |
probably null |
|
R4392:Tgm4
|
UTSW |
9 |
122,895,817 (GRCm39) |
missense |
probably benign |
0.10 |
R4407:Tgm4
|
UTSW |
9 |
122,885,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Tgm4
|
UTSW |
9 |
122,880,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Tgm4
|
UTSW |
9 |
122,885,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R5365:Tgm4
|
UTSW |
9 |
122,895,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Tgm4
|
UTSW |
9 |
122,885,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R5790:Tgm4
|
UTSW |
9 |
122,890,808 (GRCm39) |
missense |
probably damaging |
0.98 |
R5890:Tgm4
|
UTSW |
9 |
122,890,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R6102:Tgm4
|
UTSW |
9 |
122,885,600 (GRCm39) |
missense |
probably benign |
|
R6358:Tgm4
|
UTSW |
9 |
122,885,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R6956:Tgm4
|
UTSW |
9 |
122,893,768 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6966:Tgm4
|
UTSW |
9 |
122,880,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7258:Tgm4
|
UTSW |
9 |
122,891,556 (GRCm39) |
missense |
probably benign |
0.02 |
R7313:Tgm4
|
UTSW |
9 |
122,891,556 (GRCm39) |
missense |
probably benign |
0.02 |
R7369:Tgm4
|
UTSW |
9 |
122,885,749 (GRCm39) |
critical splice donor site |
probably null |
|
R7802:Tgm4
|
UTSW |
9 |
122,880,401 (GRCm39) |
intron |
probably benign |
|
R8219:Tgm4
|
UTSW |
9 |
122,874,117 (GRCm39) |
missense |
probably benign |
|
R8787:Tgm4
|
UTSW |
9 |
122,890,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8936:Tgm4
|
UTSW |
9 |
122,869,541 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9045:Tgm4
|
UTSW |
9 |
122,877,616 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9328:Tgm4
|
UTSW |
9 |
122,885,697 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9359:Tgm4
|
UTSW |
9 |
122,881,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R9403:Tgm4
|
UTSW |
9 |
122,881,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R9471:Tgm4
|
UTSW |
9 |
122,869,444 (GRCm39) |
missense |
probably benign |
|
R9746:Tgm4
|
UTSW |
9 |
122,875,634 (GRCm39) |
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 |