Incidental Mutation 'R0990:Tgm4'
ID |
97638 |
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 |
039110-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R0990 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122875576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 143
(E143G)
|
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: E143G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000026893 Gene: ENSMUSG00000025787 AA Change: E143G
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 |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.0%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
T |
C |
8: 89,052,080 (GRCm39) |
V916A |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,728,315 (GRCm39) |
I759M |
possibly damaging |
Het |
Arhgap32 |
A |
G |
9: 32,166,677 (GRCm39) |
D438G |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,883,677 (GRCm39) |
Y1285C |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,960,678 (GRCm39) |
V764A |
possibly damaging |
Het |
Cog8 |
T |
A |
8: 107,779,119 (GRCm39) |
|
probably null |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Fbxo24 |
T |
C |
5: 137,616,701 (GRCm39) |
N394S |
probably damaging |
Het |
Gm9938 |
A |
G |
19: 23,701,956 (GRCm39) |
|
probably benign |
Het |
Iars2 |
A |
G |
1: 185,050,824 (GRCm39) |
F422L |
probably damaging |
Het |
Marchf3 |
A |
T |
18: 56,940,870 (GRCm39) |
C87S |
probably damaging |
Het |
Mettl2 |
T |
A |
11: 105,028,570 (GRCm39) |
Y307* |
probably null |
Het |
Mlh3 |
T |
C |
12: 85,314,539 (GRCm39) |
D549G |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,752,722 (GRCm38) |
T867A |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,119,232 (GRCm39) |
T1852S |
probably benign |
Het |
Or5aq1 |
T |
A |
2: 86,966,086 (GRCm39) |
H193L |
possibly damaging |
Het |
Pdk4 |
A |
T |
6: 5,485,577 (GRCm39) |
S371T |
probably benign |
Het |
Pkm |
A |
G |
9: 59,585,379 (GRCm39) |
T454A |
probably damaging |
Het |
Satb2 |
G |
A |
1: 56,889,343 (GRCm39) |
S340F |
probably damaging |
Het |
Scel |
G |
A |
14: 103,819,268 (GRCm39) |
V354I |
possibly damaging |
Het |
Setdb1 |
T |
C |
3: 95,247,576 (GRCm39) |
T440A |
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,872,985 (GRCm39) |
F230S |
probably damaging |
Het |
Slc22a23 |
A |
T |
13: 34,379,450 (GRCm39) |
I439N |
probably damaging |
Het |
Slc9a5 |
G |
A |
8: 106,086,078 (GRCm39) |
R615Q |
probably damaging |
Het |
Smad1 |
T |
A |
8: 80,070,417 (GRCm39) |
I374F |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,315,429 (GRCm39) |
S797P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCACAGTTTTCCAGTAAATGAGCC -3'
(R):5'- AAAGAAGTGGTCTATCAAGTGTGCCTG -3'
Sequencing Primer
(F):5'- aaccacctgcctcagcc -3'
(R):5'- TGGTGCAGCCACACGAAG -3'
|
Posted On |
2014-01-05 |