Incidental Mutation 'IGL02120:Tgm4'
ID |
280561 |
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 # |
IGL02120
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122875594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 149
(I149N)
|
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: I149N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026893 Gene: ENSMUSG00000025787 AA Change: I149N
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: ENSMUST00000128572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171897
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217036
|
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 |
Abcb11 |
T |
C |
2: 69,087,654 (GRCm39) |
Y1037C |
probably damaging |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,202 (GRCm39) |
T113A |
possibly damaging |
Het |
Aox3 |
T |
A |
1: 58,166,809 (GRCm39) |
N177K |
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,797,906 (GRCm39) |
V532E |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Caskin1 |
G |
T |
17: 24,719,916 (GRCm39) |
G401V |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,600,771 (GRCm39) |
M950K |
probably damaging |
Het |
Cfap107 |
C |
T |
4: 144,144,981 (GRCm39) |
R195H |
probably benign |
Het |
Chrd |
T |
C |
16: 20,553,291 (GRCm39) |
V211A |
probably damaging |
Het |
Ckap2l |
T |
C |
2: 129,127,542 (GRCm39) |
N212S |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
Dlst |
T |
C |
12: 85,165,342 (GRCm39) |
S82P |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,027,245 (GRCm39) |
L2118M |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,534,876 (GRCm39) |
K2795E |
possibly damaging |
Het |
Enpp5 |
T |
A |
17: 44,391,736 (GRCm39) |
M55K |
probably benign |
Het |
Epdr1 |
A |
T |
13: 19,778,641 (GRCm39) |
S50T |
probably damaging |
Het |
Gm7808 |
T |
A |
9: 19,839,313 (GRCm39) |
|
probably benign |
Het |
Huwe1 |
T |
A |
X: 150,690,386 (GRCm39) |
F2485I |
possibly damaging |
Het |
Kcnb2 |
C |
T |
1: 15,780,085 (GRCm39) |
T319M |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,023,784 (GRCm39) |
V60M |
probably damaging |
Het |
Lingo3 |
A |
T |
10: 80,671,693 (GRCm39) |
L79Q |
probably damaging |
Het |
Magi2 |
T |
A |
5: 20,433,451 (GRCm39) |
|
probably null |
Het |
Mob2 |
C |
A |
7: 141,564,035 (GRCm39) |
V33L |
possibly damaging |
Het |
Mus81 |
G |
A |
19: 5,535,661 (GRCm39) |
|
probably benign |
Het |
Nup210l |
G |
A |
3: 90,044,169 (GRCm39) |
G490D |
probably damaging |
Het |
Or13n4 |
A |
C |
7: 106,422,905 (GRCm39) |
V276G |
possibly damaging |
Het |
Pbp2 |
A |
G |
6: 135,286,816 (GRCm39) |
V177A |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,158,326 (GRCm39) |
D656G |
probably benign |
Het |
Ppp2r1b |
A |
G |
9: 50,773,069 (GRCm39) |
|
probably benign |
Het |
Prp2rt |
G |
T |
13: 97,235,285 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
C |
10: 107,503,333 (GRCm39) |
E775G |
probably damaging |
Het |
Rad54l |
T |
C |
4: 115,956,181 (GRCm39) |
I549V |
probably benign |
Het |
Ranbp10 |
T |
C |
8: 106,532,214 (GRCm39) |
Y145C |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,846,884 (GRCm39) |
T223S |
probably benign |
Het |
Stxbp6 |
G |
T |
12: 44,948,831 (GRCm39) |
|
probably benign |
Het |
Syne2 |
A |
G |
12: 75,993,480 (GRCm39) |
D2085G |
probably damaging |
Het |
Szt2 |
C |
T |
4: 118,245,761 (GRCm39) |
R1064Q |
probably benign |
Het |
Taar3 |
A |
G |
10: 23,826,065 (GRCm39) |
T204A |
probably benign |
Het |
Tdpoz1 |
A |
G |
3: 93,577,750 (GRCm39) |
S345P |
probably damaging |
Het |
Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
Vegfc |
T |
C |
8: 54,634,436 (GRCm39) |
F372L |
possibly damaging |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vwf |
C |
A |
6: 125,592,997 (GRCm39) |
L786M |
probably benign |
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 |
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 |
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 |
2015-04-16 |