Incidental Mutation 'IGL03130:Tgm4'
ID |
410277 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tgm4
|
Ensembl Gene |
ENSMUSG00000025787 |
Gene Name |
transglutaminase 4 (prostate) |
Synonyms |
Eapa1, 9530008N10Rik, experimental autoimmune prostatitis antigen 1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL03130
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122885580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 374
(T374M)
|
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: T374M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000026893 Gene: ENSMUSG00000025787 AA Change: T374M
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 |
noncoding transcript
Transcript: ENSMUST00000171897
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215247
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217607
|
Coding Region Coverage |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
G |
T |
10: 85,224,347 (GRCm39) |
|
probably null |
Het |
Agtpbp1 |
T |
C |
13: 59,622,403 (GRCm39) |
E941G |
possibly damaging |
Het |
Akap11 |
A |
T |
14: 78,747,808 (GRCm39) |
Y1526* |
probably null |
Het |
Brd1 |
T |
C |
15: 88,572,577 (GRCm39) |
I1165V |
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,558,393 (GRCm39) |
D473G |
possibly damaging |
Het |
Clstn3 |
G |
A |
6: 124,436,222 (GRCm39) |
L176F |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,654,689 (GRCm39) |
N279S |
probably benign |
Het |
Dpy19l3 |
A |
G |
7: 35,452,097 (GRCm39) |
S16P |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,800,288 (GRCm39) |
C1806S |
probably benign |
Het |
Fam151b |
T |
C |
13: 92,586,701 (GRCm39) |
Y244C |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,255,787 (GRCm39) |
M750T |
possibly damaging |
Het |
Gm11564 |
T |
A |
11: 99,705,879 (GRCm39) |
T184S |
unknown |
Het |
Gnptab |
A |
G |
10: 88,272,233 (GRCm39) |
K958E |
possibly damaging |
Het |
Hibch |
T |
C |
1: 52,924,310 (GRCm39) |
S162P |
possibly damaging |
Het |
Itpr1 |
T |
C |
6: 108,500,362 (GRCm39) |
S2651P |
probably benign |
Het |
LTO1 |
A |
G |
7: 144,470,197 (GRCm39) |
E42G |
probably damaging |
Het |
Lyrm1 |
A |
G |
7: 119,513,403 (GRCm39) |
D56G |
probably damaging |
Het |
Manba |
T |
C |
3: 135,256,920 (GRCm39) |
Y528H |
probably damaging |
Het |
Npas2 |
A |
C |
1: 39,352,109 (GRCm39) |
E186D |
probably damaging |
Het |
Or4f61 |
A |
T |
2: 111,922,166 (GRCm39) |
D293E |
probably benign |
Het |
Or7c19 |
A |
T |
8: 85,957,258 (GRCm39) |
I45F |
possibly damaging |
Het |
Or7d11 |
C |
A |
9: 19,966,668 (GRCm39) |
L30F |
probably benign |
Het |
Pcdhb6 |
T |
A |
18: 37,468,640 (GRCm39) |
Y520* |
probably null |
Het |
Plekhm1 |
C |
T |
11: 103,268,207 (GRCm39) |
R588H |
probably benign |
Het |
Psg23 |
A |
T |
7: 18,344,341 (GRCm39) |
H371Q |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,207,610 (GRCm39) |
|
probably benign |
Het |
Rela |
T |
C |
19: 5,689,909 (GRCm39) |
C120R |
probably damaging |
Het |
Rps6kc1 |
T |
A |
1: 190,532,008 (GRCm39) |
I665F |
probably damaging |
Het |
Spg21 |
A |
G |
9: 65,380,990 (GRCm39) |
Q99R |
probably benign |
Het |
St14 |
A |
G |
9: 31,008,367 (GRCm39) |
|
probably null |
Het |
Sult1c2 |
A |
T |
17: 54,137,099 (GRCm39) |
N274K |
probably benign |
Het |
Syk |
T |
C |
13: 52,776,768 (GRCm39) |
V256A |
probably benign |
Het |
Tcte1 |
A |
G |
17: 45,844,222 (GRCm39) |
D66G |
probably damaging |
Het |
Tns4 |
T |
C |
11: 98,959,095 (GRCm39) |
H668R |
probably damaging |
Het |
Tsn |
C |
T |
1: 118,232,999 (GRCm39) |
A102T |
possibly damaging |
Het |
Uvssa |
T |
A |
5: 33,549,189 (GRCm39) |
S350T |
possibly damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,185,214 (GRCm39) |
Y31F |
possibly damaging |
Het |
Vmn2r114 |
A |
T |
17: 23,515,970 (GRCm39) |
|
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,169,276 (GRCm39) |
D618G |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,330,373 (GRCm39) |
|
probably benign |
Het |
Vti1a |
T |
C |
19: 55,380,279 (GRCm39) |
Y143H |
probably damaging |
Het |
Zfand4 |
T |
A |
6: 116,250,620 (GRCm39) |
Y17N |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,767,761 (GRCm39) |
|
probably null |
Het |
Zfp827 |
A |
G |
8: 79,787,586 (GRCm39) |
T251A |
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 |
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 |
R9471:Tgm4
|
UTSW |
9 |
122,869,444 (GRCm39) |
missense |
probably benign |
|
R9746:Tgm4
|
UTSW |
9 |
122,875,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2016-08-02 |