Incidental Mutation 'R6358:Tgm4'
| ID |
513344 |
| 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 |
044508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122885583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 375
(E375G)
|
| 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: E375G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: E375G
| 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
|
| Meta Mutation Damage Score |
0.2555 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,279,718 (GRCm39) |
V703A |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,562,702 (GRCm39) |
Q5389L |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,122 (GRCm39) |
I42N |
possibly damaging |
Het |
| Ankrd28 |
A |
C |
14: 31,432,821 (GRCm39) |
C575W |
probably damaging |
Het |
| Car14 |
T |
A |
3: 95,805,487 (GRCm39) |
T329S |
possibly damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,884,359 (GRCm39) |
F1298S |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,070,028 (GRCm39) |
I341T |
probably benign |
Het |
| D5Ertd579e |
T |
A |
5: 36,773,580 (GRCm39) |
|
probably null |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,770 (GRCm39) |
E139G |
unknown |
Het |
| Emilin1 |
A |
G |
5: 31,075,562 (GRCm39) |
E601G |
probably damaging |
Het |
| Erbin |
T |
A |
13: 103,982,073 (GRCm39) |
Q456L |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,151,618 (GRCm39) |
V405A |
probably benign |
Het |
| Gm10220 |
C |
G |
5: 26,325,303 (GRCm39) |
|
probably null |
Het |
| Gm527 |
A |
T |
12: 64,970,322 (GRCm39) |
H219L |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,503,104 (GRCm39) |
M1K |
probably null |
Het |
| H2-DMa |
T |
A |
17: 34,356,958 (GRCm39) |
L152H |
probably damaging |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,709 (GRCm39) |
H54Q |
probably damaging |
Het |
| Hspa12b |
T |
C |
2: 130,978,986 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,880,619 (GRCm39) |
T1006K |
possibly damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,061,718 (GRCm39) |
V1357A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,958,268 (GRCm39) |
M606V |
probably damaging |
Het |
| Mia |
T |
C |
7: 26,880,403 (GRCm39) |
D24G |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,849,409 (GRCm39) |
L1297Q |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,373,171 (GRCm39) |
S691T |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,203,294 (GRCm39) |
E1463D |
possibly damaging |
Het |
| Ndufs6 |
C |
T |
13: 73,468,438 (GRCm39) |
G87D |
probably damaging |
Het |
| Npnt |
C |
T |
3: 132,610,479 (GRCm39) |
V415I |
probably benign |
Het |
| Ntsr2 |
A |
G |
12: 16,706,769 (GRCm39) |
I266V |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,630,845 (GRCm39) |
I211F |
possibly damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,778 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
T |
A |
17: 23,952,630 (GRCm39) |
|
probably null |
Het |
| Polr1e |
T |
C |
4: 45,026,813 (GRCm39) |
L166P |
probably damaging |
Het |
| Ppib |
T |
G |
9: 65,968,756 (GRCm39) |
F48C |
probably damaging |
Het |
| Ppl |
C |
A |
16: 4,905,793 (GRCm39) |
E1501* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,382,321 (GRCm39) |
V384A |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,661,503 (GRCm39) |
S1212R |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,403,735 (GRCm39) |
D131Y |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,680,099 (GRCm39) |
M141K |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,105 (GRCm39) |
|
probably null |
Het |
| Rpl27 |
A |
G |
11: 101,334,782 (GRCm39) |
|
probably benign |
Het |
| Sdc1 |
A |
C |
12: 8,841,297 (GRCm39) |
T213P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,061,360 (GRCm39) |
N2256K |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,585,034 (GRCm39) |
M12V |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,049,253 (GRCm39) |
K332M |
probably damaging |
Het |
| Slf2 |
A |
T |
19: 44,923,864 (GRCm39) |
H226L |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,802,584 (GRCm39) |
S362G |
probably benign |
Het |
| Tbxas1 |
G |
A |
6: 38,929,046 (GRCm39) |
|
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,399,575 (GRCm39) |
V83A |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,172,273 (GRCm39) |
Y247* |
probably null |
Het |
| Tmem167b |
C |
T |
3: 108,466,211 (GRCm39) |
R79H |
possibly damaging |
Het |
| Tmprss7 |
T |
G |
16: 45,489,936 (GRCm39) |
M429L |
probably benign |
Het |
| Tnfsf18 |
T |
A |
1: 161,331,148 (GRCm39) |
D99E |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,713,736 (GRCm39) |
S2534T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,968 (GRCm39) |
E872G |
probably damaging |
Het |
| Tomm40l |
C |
T |
1: 171,047,206 (GRCm39) |
V237I |
possibly damaging |
Het |
| Trbv2 |
A |
G |
6: 41,024,836 (GRCm39) |
Q84R |
probably benign |
Het |
| Tspan18 |
T |
C |
2: 93,040,219 (GRCm39) |
R179G |
probably benign |
Het |
| Tspan8 |
G |
T |
10: 115,669,132 (GRCm39) |
V56L |
probably benign |
Het |
| Zbtb22 |
T |
C |
17: 34,137,711 (GRCm39) |
S619P |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,791,428 (GRCm39) |
I205N |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,850 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TGGGAAGTACCTGTTGCCTC -3'
(R):5'- CTTGGAACTGGCCTGTAACG -3'
Sequencing Primer
(F):5'- GCGGGATTTCTTACTGTTACCG -3'
(R):5'- TGTAACGACACAGCTACCTTCTGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation