Incidental Mutation 'R2076:Tgm4'
| ID |
229166 |
| 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 |
040081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R2076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122880160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 211
(A211S)
|
| 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: A211S
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: A211S
| 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 |
probably benign
Transcript: ENSMUST00000217607
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (61/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,178,478 (GRCm39) |
V1165D |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,627,910 (GRCm39) |
H103R |
probably damaging |
Het |
| Apba1 |
G |
T |
19: 23,870,587 (GRCm39) |
E140* |
probably null |
Het |
| Bicdl1 |
A |
T |
5: 115,793,987 (GRCm39) |
I253N |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,802 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,197,177 (GRCm39) |
R160G |
probably damaging |
Het |
| Cct7 |
A |
T |
6: 85,445,122 (GRCm39) |
I458F |
probably damaging |
Het |
| Cd3g |
T |
A |
9: 44,885,595 (GRCm39) |
D50V |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,745,660 (GRCm39) |
L461P |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,741 (GRCm39) |
D1763E |
possibly damaging |
Het |
| Csn2 |
A |
G |
5: 87,844,033 (GRCm39) |
S19P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,816,576 (GRCm39) |
V4D |
probably benign |
Het |
| Ddx3y |
A |
G |
Y: 1,266,593 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
G |
T |
18: 84,755,033 (GRCm39) |
D170Y |
probably damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,826 (GRCm39) |
Q716* |
probably null |
Het |
| Dlx6 |
A |
G |
6: 6,867,098 (GRCm39) |
S234G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,542,968 (GRCm39) |
T2401A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,281,481 (GRCm39) |
Y2847* |
probably null |
Het |
| Dpysl2 |
A |
G |
14: 67,102,571 (GRCm39) |
S30P |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,786,620 (GRCm39) |
D441G |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,553,567 (GRCm39) |
L50* |
probably null |
Het |
| Fam135b |
T |
A |
15: 71,350,092 (GRCm39) |
E349D |
probably damaging |
Het |
| Foxl3 |
A |
G |
5: 138,807,022 (GRCm39) |
D100G |
probably benign |
Het |
| Frat2 |
T |
C |
19: 41,836,242 (GRCm39) |
T37A |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,317,869 (GRCm39) |
|
probably null |
Het |
| Ift25 |
T |
C |
4: 107,136,964 (GRCm39) |
S121P |
possibly damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,162 (GRCm39) |
A213V |
probably damaging |
Het |
| Irf2 |
G |
T |
8: 47,298,962 (GRCm39) |
W252L |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,416,384 (GRCm39) |
D260G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,152,513 (GRCm39) |
H338L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,314,100 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
C |
16: 19,936,628 (GRCm39) |
V412A |
probably damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,750 (GRCm39) |
K70* |
probably null |
Het |
| Mrtfb |
T |
C |
16: 13,219,246 (GRCm39) |
S631P |
probably benign |
Het |
| Myo1e |
T |
A |
9: 70,291,159 (GRCm39) |
N983K |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,340,691 (GRCm39) |
R2010G |
probably benign |
Het |
| Npw |
A |
T |
17: 24,876,413 (GRCm39) |
V166D |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,262,881 (GRCm39) |
Y169C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,178,479 (GRCm39) |
Y579H |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,958,693 (GRCm39) |
T330A |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,042,229 (GRCm39) |
V1592M |
probably damaging |
Het |
| Ppp2r3d |
A |
C |
9: 101,021,570 (GRCm39) |
M955R |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,364 (GRCm39) |
I1349K |
probably damaging |
Het |
| Rad52 |
C |
T |
6: 119,888,040 (GRCm39) |
H9Y |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,520 (GRCm39) |
Q466R |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,262 (GRCm39) |
I1227N |
possibly damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,164,088 (GRCm39) |
M273V |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,082,410 (GRCm39) |
V406A |
possibly damaging |
Het |
| Slc30a3 |
G |
T |
5: 31,244,165 (GRCm39) |
Y323* |
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,742,770 (GRCm39) |
I441V |
possibly damaging |
Het |
| Spast |
G |
C |
17: 74,659,026 (GRCm39) |
G131A |
probably damaging |
Het |
| Syne1 |
C |
G |
10: 4,990,897 (GRCm39) |
W8444S |
probably damaging |
Het |
| Themis2 |
T |
C |
4: 132,513,113 (GRCm39) |
D371G |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
| Uba3 |
G |
T |
6: 97,176,241 (GRCm39) |
D88E |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,144 (GRCm39) |
M111K |
probably damaging |
Het |
| Wdr35 |
C |
T |
12: 9,074,281 (GRCm39) |
H971Y |
possibly damaging |
Het |
| Yeats2 |
C |
A |
16: 20,005,032 (GRCm39) |
H356Q |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,528 (GRCm39) |
K316E |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,902,771 (GRCm39) |
L900P |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,410 (GRCm39) |
N423D |
possibly damaging |
Het |
| Zfp932 |
A |
G |
5: 110,157,334 (GRCm39) |
Q344R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAACAAATCTGTTTTCTGCTA -3'
(R):5'- GCAGCCTACCTGTGGTCAG -3'
Sequencing Primer
(F):5'- GCAGTTTTCATCCATAGAGGGACC -3'
(R):5'- TGGTCAGGATTCCAGAGAAAACCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation