Incidental Mutation 'R6956:Tgm4'
| ID |
541466 |
| 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 |
045067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6956 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122863806-122896623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122893768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 155
(M155I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026893]
[ENSMUST00000140497]
[ENSMUST00000215247]
[ENSMUST00000217607]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026893
AA Change: M579I
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: M579I
| 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 |
possibly damaging
Transcript: ENSMUST00000215247
AA Change: M155I
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217607
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,781,762 (GRCm39) |
V945M |
probably benign |
Het |
| Amotl2 |
A |
G |
9: 102,601,967 (GRCm39) |
T371A |
probably damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,163,132 (GRCm39) |
I86T |
possibly damaging |
Het |
| C9 |
A |
T |
15: 6,474,945 (GRCm39) |
M35L |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,862,528 (GRCm39) |
P661T |
probably damaging |
Het |
| Ccdc202 |
T |
A |
14: 96,119,869 (GRCm39) |
W209R |
probably damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,303,349 (GRCm39) |
S293R |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,261,233 (GRCm39) |
N2500K |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,697,282 (GRCm39) |
S92P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,616,446 (GRCm39) |
I1172F |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,471,470 (GRCm39) |
S364G |
probably damaging |
Het |
| Dpp6 |
A |
T |
5: 27,803,819 (GRCm39) |
N255I |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,748 (GRCm39) |
I440T |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,688,099 (GRCm39) |
T937A |
probably damaging |
Het |
| Fam229b |
T |
A |
10: 39,009,843 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
A |
G |
5: 105,476,241 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,500,263 (GRCm39) |
Y144F |
probably damaging |
Het |
| Kel |
T |
G |
6: 41,664,907 (GRCm39) |
D7A |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,994,668 (GRCm39) |
V166A |
probably benign |
Het |
| Mapt |
T |
C |
11: 104,209,081 (GRCm39) |
|
probably null |
Het |
| Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
| Mboat1 |
T |
C |
13: 30,422,059 (GRCm39) |
V396A |
possibly damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,435,621 (GRCm39) |
D604G |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,322 (GRCm39) |
T3324A |
unknown |
Het |
| Nalf1 |
T |
A |
8: 9,820,744 (GRCm39) |
Q92L |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,564,757 (GRCm39) |
I495V |
probably benign |
Het |
| Or6c208 |
A |
T |
10: 129,224,166 (GRCm39) |
K221N |
probably benign |
Het |
| Pfkfb2 |
T |
C |
1: 130,635,337 (GRCm39) |
N75D |
probably damaging |
Het |
| Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
| Rpgrip1l |
A |
C |
8: 92,012,941 (GRCm39) |
|
probably null |
Het |
| Scube1 |
T |
C |
15: 83,606,077 (GRCm39) |
Y65C |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Socs7 |
T |
C |
11: 97,267,849 (GRCm39) |
S327P |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,685,021 (GRCm39) |
D591E |
probably damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,748 (GRCm39) |
D4V |
possibly damaging |
Het |
| Tdpoz8 |
T |
C |
3: 92,981,279 (GRCm39) |
V25A |
possibly damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,002,788 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,036,183 (GRCm39) |
V891A |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,819,243 (GRCm39) |
E235G |
probably damaging |
Het |
| Usp2 |
T |
A |
9: 44,004,053 (GRCm39) |
V533E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,837,550 (GRCm39) |
I2665F |
probably damaging |
Het |
| Vmn2r31 |
G |
A |
7: 7,397,505 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn2r84 |
C |
A |
10: 130,225,136 (GRCm39) |
C458F |
probably damaging |
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 |
|
|
R6358:Tgm4
|
UTSW |
9 |
122,885,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTCTGGCAGGACTAGAGAG -3'
(R):5'- AGGGGTTTACATCTCAAAAGTATGG -3'
Sequencing Primer
(F):5'- TCTGGCAGGACTAGAGAGGTAAGC -3'
(R):5'- GCACAGGTATATGTTGGGAAGACTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation