Incidental Mutation 'R4392:Tgm4'
ID |
326421 |
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 |
041127-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4392 (G1)
|
Quality Score |
169 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122895817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 631
(T631I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026893]
[ENSMUST00000140497]
[ENSMUST00000215247]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026893
AA Change: T631I
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000026893 Gene: ENSMUSG00000025787 AA Change: T631I
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: ENSMUST00000140497
|
SMART Domains |
Protein: ENSMUSP00000122604 Gene: ENSMUSG00000025786
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214552
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215247
AA Change: T207I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
Meta Mutation Damage Score |
0.2010 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
Validation Efficiency |
95% (69/73) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
C |
T |
14: 54,822,435 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
C |
11: 9,259,034 (GRCm39) |
K2920T |
possibly damaging |
Het |
Amy2b |
T |
G |
3: 113,056,724 (GRCm39) |
|
noncoding transcript |
Het |
Anapc1 |
T |
C |
2: 128,518,169 (GRCm39) |
|
probably null |
Het |
Bmp7 |
T |
G |
2: 172,758,335 (GRCm39) |
D178A |
probably benign |
Het |
Brsk1 |
T |
A |
7: 4,701,749 (GRCm39) |
I170N |
probably damaging |
Het |
Bub3 |
C |
T |
7: 131,168,064 (GRCm39) |
A187V |
probably benign |
Het |
Cacna2d2 |
A |
G |
9: 107,277,479 (GRCm39) |
H71R |
possibly damaging |
Het |
Cdrt4 |
A |
T |
11: 62,842,179 (GRCm39) |
K20N |
probably benign |
Het |
Clec12a |
A |
T |
6: 129,330,427 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,569,770 (GRCm39) |
Y1600F |
probably damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,728,700 (GRCm39) |
I57N |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,059,917 (GRCm39) |
L223P |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,289,375 (GRCm39) |
R1188H |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,385,196 (GRCm39) |
|
probably benign |
Het |
Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
Eif4b |
T |
A |
15: 101,995,076 (GRCm39) |
|
probably null |
Het |
Erlec1 |
A |
G |
11: 30,893,697 (GRCm39) |
|
probably null |
Het |
Esp24 |
T |
C |
17: 39,350,968 (GRCm39) |
|
probably benign |
Het |
Esp34 |
T |
C |
17: 38,870,382 (GRCm39) |
V24A |
possibly damaging |
Het |
Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
Foxc2 |
T |
C |
8: 121,844,191 (GRCm39) |
S280P |
probably damaging |
Het |
Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,068,002 (GRCm39) |
F467S |
probably damaging |
Het |
Grwd1 |
C |
T |
7: 45,477,204 (GRCm39) |
G228S |
probably damaging |
Het |
Gtf2i |
T |
C |
5: 134,289,483 (GRCm39) |
E399G |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Ift56 |
A |
G |
6: 38,358,492 (GRCm39) |
|
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,585,880 (GRCm39) |
Y83H |
probably damaging |
Het |
Mdga1 |
T |
C |
17: 30,069,630 (GRCm39) |
T413A |
probably damaging |
Het |
Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
Mmrn2 |
T |
A |
14: 34,119,573 (GRCm39) |
L184H |
probably damaging |
Het |
Mroh2a |
C |
T |
1: 88,187,311 (GRCm39) |
R133C |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,235,707 (GRCm39) |
|
probably null |
Het |
Nkain3 |
C |
A |
4: 20,282,985 (GRCm39) |
R116L |
possibly damaging |
Het |
Nxph2 |
A |
C |
2: 23,290,284 (GRCm39) |
Q212P |
probably damaging |
Het |
Or4f7d-ps1 |
T |
C |
2: 111,674,690 (GRCm39) |
|
noncoding transcript |
Het |
Or4k15c |
A |
G |
14: 50,322,060 (GRCm39) |
F26S |
probably benign |
Het |
Otog |
T |
C |
7: 45,934,548 (GRCm39) |
Y1369H |
probably damaging |
Het |
Prl |
A |
G |
13: 27,248,334 (GRCm39) |
I131V |
possibly damaging |
Het |
Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
Rad18 |
A |
T |
6: 112,670,490 (GRCm39) |
C25S |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,189,655 (GRCm39) |
T678A |
probably damaging |
Het |
Scaper |
T |
A |
9: 55,765,399 (GRCm39) |
E557V |
probably damaging |
Het |
Scube3 |
C |
T |
17: 28,383,762 (GRCm39) |
P511L |
probably null |
Het |
Sgpl1 |
A |
G |
10: 60,940,231 (GRCm39) |
|
probably benign |
Het |
Slc10a1 |
C |
A |
12: 81,014,578 (GRCm39) |
E47D |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,117,896 (GRCm39) |
N369S |
probably damaging |
Het |
Sstr5 |
T |
C |
17: 25,710,198 (GRCm39) |
T344A |
probably benign |
Het |
Tmprss15 |
A |
G |
16: 78,821,326 (GRCm39) |
Y457H |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,637,429 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
T |
2: 126,690,458 (GRCm39) |
W207R |
probably damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Usp2 |
A |
T |
9: 44,002,556 (GRCm39) |
H384L |
probably damaging |
Het |
Vmn2r27 |
C |
T |
6: 124,207,135 (GRCm39) |
V169I |
probably benign |
Het |
Vopp1 |
A |
C |
6: 57,739,461 (GRCm39) |
F29C |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,741,860 (GRCm39) |
D953G |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,287,707 (GRCm39) |
C419* |
probably null |
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 |
|
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'- TTCCAGCAGGCCATCTTGTC -3'
(R):5'- ATGTTAACATGCTTAGCCAAGG -3'
Sequencing Primer
(F):5'- TCTTACAGCTGAGACAAGTGGCC -3'
(R):5'- GCTCAGAGCCAATCAGGG -3'
|
Posted On |
2015-07-06 |