Incidental Mutation 'R9471:Tgm4'
ID |
715478 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R9471 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122869444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 8
(I8V)
|
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 benign
Transcript: ENSMUST00000026893
AA Change: I8V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026893 Gene: ENSMUSG00000025787 AA Change: I8V
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 benign
Transcript: ENSMUST00000217607
AA Change: I8V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
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 |
Actl6b |
A |
G |
5: 137,565,319 (GRCm39) |
K368E |
probably damaging |
Het |
Adgrl2 |
T |
C |
3: 148,558,365 (GRCm39) |
T448A |
probably benign |
Het |
Aff4 |
C |
T |
11: 53,271,473 (GRCm39) |
P337S |
probably benign |
Het |
Alg12 |
G |
A |
15: 88,690,621 (GRCm39) |
Q406* |
probably null |
Het |
Anapc5 |
T |
C |
5: 122,944,308 (GRCm39) |
Y302C |
probably damaging |
Het |
Apol7a |
A |
G |
15: 77,273,680 (GRCm39) |
S261P |
possibly damaging |
Het |
Atad5 |
G |
T |
11: 80,023,524 (GRCm39) |
K1545N |
possibly damaging |
Het |
Atp6v1f |
T |
A |
6: 29,467,941 (GRCm39) |
D42E |
probably benign |
Het |
Bcl6 |
T |
A |
16: 23,791,857 (GRCm39) |
N166Y |
probably benign |
Het |
Btbd7 |
C |
T |
12: 102,760,145 (GRCm39) |
R601Q |
probably damaging |
Het |
Casp1 |
A |
G |
9: 5,304,187 (GRCm39) |
E287G |
probably benign |
Het |
Cd300c |
A |
T |
11: 114,847,216 (GRCm39) |
V193E |
probably damaging |
Het |
Cd300lg |
T |
A |
11: 101,944,920 (GRCm39) |
S377T |
probably benign |
Het |
Ceacam13 |
T |
A |
7: 17,753,012 (GRCm39) |
*264R |
probably null |
Het |
Clasrp |
G |
A |
7: 19,319,172 (GRCm39) |
R498* |
probably null |
Het |
Clec4n |
T |
A |
6: 123,221,505 (GRCm39) |
N146K |
probably benign |
Het |
Cntln |
T |
A |
4: 84,968,019 (GRCm39) |
V746E |
possibly damaging |
Het |
Defa29 |
T |
C |
8: 21,816,901 (GRCm39) |
T31A |
possibly damaging |
Het |
Egr4 |
A |
G |
6: 85,489,695 (GRCm39) |
S122P |
possibly damaging |
Het |
Fam221a |
T |
G |
6: 49,349,520 (GRCm39) |
D28E |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,000,897 (GRCm39) |
T1161I |
possibly damaging |
Het |
Fcsk |
T |
C |
8: 111,610,041 (GRCm39) |
E991G |
probably benign |
Het |
Frat2 |
A |
G |
19: 41,836,113 (GRCm39) |
S80P |
probably benign |
Het |
Gse1 |
C |
A |
8: 121,301,845 (GRCm39) |
S985R |
unknown |
Het |
H2-M3 |
T |
A |
17: 37,581,988 (GRCm39) |
I148N |
probably damaging |
Het |
Hs6st3 |
G |
T |
14: 119,376,235 (GRCm39) |
V137L |
probably damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,900,927 (GRCm39) |
M53L |
probably benign |
Het |
Klhl24 |
C |
T |
16: 19,941,735 (GRCm39) |
T561I |
|
Het |
Klhl26 |
C |
G |
8: 70,904,803 (GRCm39) |
G369A |
probably damaging |
Het |
Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
Lrrd1 |
A |
T |
5: 3,913,980 (GRCm39) |
D750V |
|
Het |
Mc5r |
A |
G |
18: 68,472,127 (GRCm39) |
D162G |
probably damaging |
Het |
Mrc2 |
T |
A |
11: 105,234,559 (GRCm39) |
S1026R |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,436,195 (GRCm39) |
H1945R |
probably damaging |
Het |
Nr4a2 |
A |
G |
2: 57,002,114 (GRCm39) |
M113T |
probably benign |
Het |
Obox2 |
G |
A |
7: 15,131,113 (GRCm39) |
G73D |
probably damaging |
Het |
Or1af1 |
G |
A |
2: 37,110,400 (GRCm39) |
A300T |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,355 (GRCm39) |
C152* |
probably null |
Het |
Pappa2 |
C |
T |
1: 158,642,029 (GRCm39) |
M1342I |
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,202,039 (GRCm39) |
L44Q |
probably damaging |
Het |
Pnpla1 |
A |
T |
17: 29,099,973 (GRCm39) |
Q280L |
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,749 (GRCm39) |
T347S |
probably damaging |
Het |
Prdm1 |
C |
T |
10: 44,326,174 (GRCm39) |
G117S |
probably damaging |
Het |
Prss36 |
A |
T |
7: 127,545,605 (GRCm39) |
F6I |
probably benign |
Het |
Sat2 |
A |
G |
11: 69,513,725 (GRCm39) |
Y81C |
probably damaging |
Het |
Sbspon |
T |
C |
1: 15,962,677 (GRCm39) |
D67G |
probably benign |
Het |
Shank2 |
G |
A |
7: 143,964,752 (GRCm39) |
V787M |
possibly damaging |
Het |
Stoml1 |
A |
T |
9: 58,163,968 (GRCm39) |
I96F |
probably damaging |
Het |
Tet2 |
C |
T |
3: 133,191,680 (GRCm39) |
G918D |
probably damaging |
Het |
Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Vmn2r67 |
A |
C |
7: 84,799,723 (GRCm39) |
|
probably null |
Het |
Wdr90 |
C |
A |
17: 26,080,015 (GRCm39) |
V107L |
possibly damaging |
Het |
Zfp316 |
T |
C |
5: 143,241,161 (GRCm39) |
D286G |
unknown |
Het |
Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
Zscan18 |
T |
C |
7: 12,508,343 (GRCm39) |
T386A |
possibly 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 |
R7091:Tgm4
|
UTSW |
9 |
122,869,525 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
R9746:Tgm4
|
UTSW |
9 |
122,875,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCCCGCTGTGTGCTAAG -3'
(R):5'- TCTTGGCCATCGCACATTTATAAAC -3'
Sequencing Primer
(F):5'- TGTGTGCTAAGGATCCCCC -3'
(R):5'- GGCCATCGCACATTTATAAACCTTTG -3'
|
Posted On |
2022-06-15 |