Incidental Mutation 'R2866:Tigd4'
| ID |
253212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tigd4
|
| Ensembl Gene |
ENSMUSG00000047819 |
| Gene Name |
tigger transposable element derived 4 |
| Synonyms |
C130063O11Rik, Tigd4 |
| MMRRC Submission |
040455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R2866 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
84500881-84504339 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84501259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 59
(N59D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062623]
[ENSMUST00000154148]
|
| AlphaFold |
Q8BUZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062623
AA Change: N59D
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052320
Gene: ENSMUSG00000047819
AA Change: N59D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-B_N
|
15 |
67 |
9e-14 |
PFAM |
|
CENPB
|
81 |
146 |
5.52e-16 |
SMART |
|
Pfam:DDE_1
|
211 |
375 |
4.9e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154148
|
| SMART Domains |
Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
1 |
227 |
7.15e-121 |
SMART |
|
| Meta Mutation Damage Score |
0.4895 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
| Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
| Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
| Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
| Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
| Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
| Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
| Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
| Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
| Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
| Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
probably damaging |
Het |
|
| Other mutations in Tigd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01791:Tigd4
|
APN |
3 |
84,502,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0080:Tigd4
|
UTSW |
3 |
84,501,452 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0320:Tigd4
|
UTSW |
3 |
84,502,481 (GRCm39) |
missense |
probably benign |
|
|
R0347:Tigd4
|
UTSW |
3 |
84,501,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Tigd4
|
UTSW |
3 |
84,502,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1876:Tigd4
|
UTSW |
3 |
84,501,242 (GRCm39) |
nonsense |
probably null |
|
|
R2142:Tigd4
|
UTSW |
3 |
84,501,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2258:Tigd4
|
UTSW |
3 |
84,501,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2519:Tigd4
|
UTSW |
3 |
84,501,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:Tigd4
|
UTSW |
3 |
84,501,259 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2867:Tigd4
|
UTSW |
3 |
84,501,259 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3974:Tigd4
|
UTSW |
3 |
84,502,585 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4094:Tigd4
|
UTSW |
3 |
84,501,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Tigd4
|
UTSW |
3 |
84,502,460 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5155:Tigd4
|
UTSW |
3 |
84,501,970 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5878:Tigd4
|
UTSW |
3 |
84,501,749 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6174:Tigd4
|
UTSW |
3 |
84,502,574 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6960:Tigd4
|
UTSW |
3 |
84,501,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Tigd4
|
UTSW |
3 |
84,501,128 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7445:Tigd4
|
UTSW |
3 |
84,502,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7696:Tigd4
|
UTSW |
3 |
84,502,224 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7810:Tigd4
|
UTSW |
3 |
84,502,310 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8016:Tigd4
|
UTSW |
3 |
84,501,971 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8489:Tigd4
|
UTSW |
3 |
84,502,526 (GRCm39) |
missense |
probably benign |
|
|
R8745:Tigd4
|
UTSW |
3 |
84,501,874 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8872:Tigd4
|
UTSW |
3 |
84,501,547 (GRCm39) |
missense |
probably benign |
|
|
X0023:Tigd4
|
UTSW |
3 |
84,501,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Tigd4
|
UTSW |
3 |
84,501,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tigd4
|
UTSW |
3 |
84,501,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCCGCATCTGAGATGG -3'
(R):5'- GCACTTAAAATCATTGTGTCCCAG -3'
Sequencing Primer
(F):5'- CCGCATCTGAGATGGCAGAAG -3'
(R):5'- CAGCTTCTGGGCAAAATCATTAGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation