Incidental Mutation 'R1604:Tgm4'
ID |
176344 |
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 |
039641-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R1604 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122874129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
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: V123A
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026893 Gene: ENSMUSG00000025787 AA Change: V123A
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: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldoart2 |
A |
G |
12: 55,612,405 (GRCm39) |
D110G |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,133,785 (GRCm39) |
M369T |
possibly damaging |
Het |
Anks3 |
C |
T |
16: 4,766,117 (GRCm39) |
V151M |
probably damaging |
Het |
Arl6ip6 |
T |
C |
2: 53,082,508 (GRCm39) |
L125P |
probably damaging |
Het |
Bmp1 |
T |
C |
14: 70,745,444 (GRCm39) |
Q247R |
possibly damaging |
Het |
Ccdc30 |
A |
G |
4: 119,188,793 (GRCm39) |
I491T |
probably damaging |
Het |
Cdhr1 |
T |
A |
14: 36,817,050 (GRCm39) |
I104F |
probably benign |
Het |
Cdk17 |
G |
T |
10: 93,068,360 (GRCm39) |
M372I |
probably damaging |
Het |
Cyp2c54 |
A |
G |
19: 40,058,787 (GRCm39) |
V215A |
probably benign |
Het |
D430041D05Rik |
T |
A |
2: 104,035,487 (GRCm39) |
I1614F |
probably damaging |
Het |
Ddx55 |
A |
G |
5: 124,697,369 (GRCm39) |
N244D |
probably damaging |
Het |
Dop1b |
G |
T |
16: 93,559,458 (GRCm39) |
V617F |
probably benign |
Het |
Erbb4 |
G |
T |
1: 68,385,728 (GRCm39) |
A287E |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,513,852 (GRCm39) |
|
probably null |
Het |
Gm17421 |
G |
A |
12: 113,333,155 (GRCm39) |
|
noncoding transcript |
Het |
Gm9894 |
T |
A |
13: 67,913,008 (GRCm39) |
|
noncoding transcript |
Het |
Gnpat |
T |
C |
8: 125,603,700 (GRCm39) |
S193P |
probably damaging |
Het |
Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
Hdgf |
T |
A |
3: 87,821,347 (GRCm39) |
|
probably null |
Het |
Itgb8 |
A |
T |
12: 119,166,265 (GRCm39) |
L89M |
probably damaging |
Het |
Lnx2 |
T |
C |
5: 146,966,135 (GRCm39) |
D328G |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,049,305 (GRCm39) |
T341A |
possibly damaging |
Het |
Map1b |
A |
G |
13: 99,566,080 (GRCm39) |
S2214P |
unknown |
Het |
Mms22l |
T |
C |
4: 24,502,804 (GRCm39) |
F131L |
probably damaging |
Het |
Msmo1 |
A |
G |
8: 65,180,689 (GRCm39) |
I75T |
probably damaging |
Het |
Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
Or2a56 |
G |
A |
6: 42,932,650 (GRCm39) |
A73T |
possibly damaging |
Het |
Or51k1 |
G |
T |
7: 103,661,162 (GRCm39) |
A249E |
probably damaging |
Het |
Or8c13 |
A |
G |
9: 38,091,645 (GRCm39) |
V158A |
probably benign |
Het |
Or8d2 |
T |
G |
9: 38,760,000 (GRCm39) |
F197V |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,330,763 (GRCm39) |
R113* |
probably null |
Het |
Polr2m |
T |
C |
9: 71,390,959 (GRCm39) |
D81G |
probably damaging |
Het |
Ppp1r15b |
T |
A |
1: 133,060,287 (GRCm39) |
M268K |
probably benign |
Het |
Ptprcap |
T |
A |
19: 4,206,073 (GRCm39) |
L52* |
probably null |
Het |
Rasgrp2 |
C |
T |
19: 6,457,087 (GRCm39) |
T277I |
possibly damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,310 (GRCm39) |
N286D |
probably damaging |
Het |
Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
Scrib |
A |
C |
15: 75,920,089 (GRCm39) |
S1557A |
probably damaging |
Het |
Sergef |
C |
A |
7: 46,092,783 (GRCm39) |
V409L |
probably benign |
Het |
Shisal1 |
T |
C |
15: 84,290,672 (GRCm39) |
M212V |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,309,328 (GRCm39) |
M280V |
probably benign |
Het |
Slc9a8 |
C |
T |
2: 167,313,352 (GRCm39) |
P409S |
probably benign |
Het |
Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
Spc25 |
T |
C |
2: 69,035,498 (GRCm39) |
D4G |
probably damaging |
Het |
Specc1 |
C |
T |
11: 61,933,883 (GRCm39) |
R88C |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,724,948 (GRCm39) |
|
probably null |
Het |
Stt3b |
T |
C |
9: 115,079,995 (GRCm39) |
E639G |
probably damaging |
Het |
Sult3a1 |
A |
C |
10: 33,742,616 (GRCm39) |
E81A |
probably damaging |
Het |
Taf1b |
G |
A |
12: 24,606,623 (GRCm39) |
G481D |
probably benign |
Het |
Tie1 |
G |
T |
4: 118,331,604 (GRCm39) |
H973N |
probably damaging |
Het |
Tmem117 |
C |
T |
15: 94,992,425 (GRCm39) |
R362W |
probably damaging |
Het |
Txnip |
A |
T |
3: 96,466,277 (GRCm39) |
Q107L |
probably benign |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Vcan |
A |
G |
13: 89,837,780 (GRCm39) |
V1628A |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,564,245 (GRCm39) |
M139K |
probably benign |
Het |
Wwp1 |
A |
G |
4: 19,659,709 (GRCm39) |
V193A |
probably benign |
Het |
Zcchc8 |
C |
T |
5: 123,838,721 (GRCm39) |
A606T |
probably benign |
Het |
Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
Zfp518b |
T |
C |
5: 38,830,949 (GRCm39) |
D352G |
probably damaging |
Het |
Zfp784 |
A |
G |
7: 5,039,453 (GRCm39) |
|
probably benign |
Het |
Zfp940 |
A |
T |
7: 29,545,500 (GRCm39) |
F136I |
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 |
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'- CCAGAGAGAACGATTTGTTGGGGC -3'
(R):5'- TCCCACCCTAGAGTTGTGAAGGAAG -3'
Sequencing Primer
(F):5'- GCTGATGATTCTTGTTAAAGGCTTC -3'
(R):5'- GGCATACACTAACTGTGCCTG -3'
|
Posted On |
2014-04-24 |