Incidental Mutation 'R4355:Tshz2'
| ID |
327472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshz2
|
| Ensembl Gene |
ENSMUSG00000047907 |
| Gene Name |
teashirt zinc finger family member 2 |
| Synonyms |
Mtsh2, 2900073F20Rik, Zfp218, teashirt2, Tsh2, Sdccag33l |
| MMRRC Submission |
041108-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
169474933-169913736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 169726858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 16
(E16K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109157]
[ENSMUST00000109159]
[ENSMUST00000123300]
[ENSMUST00000140699]
[ENSMUST00000185239]
|
| AlphaFold |
Q68FE9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109157
AA Change: E485K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: E485K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
42 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
216 |
240 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
276 |
300 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
381 |
405 |
4.94e0 |
SMART |
|
low complexity region
|
460 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
722 |
N/A |
INTRINSIC |
|
HOX
|
836 |
910 |
3.43e-4 |
SMART |
|
ZnF_C2H2
|
922 |
944 |
5.34e-1 |
SMART |
|
ZnF_C2H2
|
990 |
1013 |
3.58e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109159
AA Change: E485K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: E485K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
42 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
216 |
240 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
276 |
300 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
381 |
405 |
4.94e0 |
SMART |
|
low complexity region
|
460 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
722 |
N/A |
INTRINSIC |
|
HOX
|
836 |
910 |
3.43e-4 |
SMART |
|
ZnF_C2H2
|
922 |
944 |
5.34e-1 |
SMART |
|
ZnF_C2H2
|
990 |
1013 |
3.58e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123300
AA Change: E16K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907
AA Change: E16K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
165 |
N/A |
INTRINSIC |
|
HOX
|
279 |
353 |
1.7e-6 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
2.3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140699
|
| SMART Domains |
Protein: ENSMUSP00000120013
Gene: ENSMUSG00000047907
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
43 |
117 |
1.7e-6 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
2.3e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181446
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185239
AA Change: E16K
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907
AA Change: E16K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
129 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
|
HOX
|
367 |
441 |
1.7e-6 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
2.3e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0625 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a transposon induced allele die in utero; cultured blastocysts fail to hatch. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
G |
8: 44,023,222 (GRCm39) |
Q89H |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,415,511 (GRCm39) |
F697S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,544,788 (GRCm39) |
V769E |
probably damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,681,566 (GRCm39) |
F173L |
probably null |
Het |
| Bcl3 |
G |
T |
7: 19,545,505 (GRCm39) |
C208* |
probably null |
Het |
| Bmal1 |
A |
G |
7: 112,902,613 (GRCm39) |
I421V |
possibly damaging |
Het |
| Casz1 |
T |
C |
4: 149,036,792 (GRCm39) |
S1685P |
unknown |
Het |
| Cep250 |
A |
G |
2: 155,833,445 (GRCm39) |
E1789G |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,759,710 (GRCm39) |
D334E |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,531,219 (GRCm39) |
|
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,248,271 (GRCm39) |
S208G |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,468 (GRCm39) |
V388A |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,599,333 (GRCm39) |
A1896V |
possibly damaging |
Het |
| Eif2ak2 |
T |
A |
17: 79,165,963 (GRCm39) |
R411S |
probably benign |
Het |
| F7 |
A |
G |
8: 13,084,774 (GRCm39) |
T267A |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,848,101 (GRCm39) |
D1770E |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,120 (GRCm39) |
Y387N |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,256,729 (GRCm39) |
L1491F |
probably damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,260 (GRCm39) |
I110M |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,665,367 (GRCm39) |
C28S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,472,342 (GRCm39) |
N132S |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,578 (GRCm39) |
N392K |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,189 (GRCm39) |
S80P |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,855,036 (GRCm39) |
C721Y |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klrc3 |
T |
C |
6: 129,616,125 (GRCm39) |
M189V |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,368,884 (GRCm39) |
E394V |
possibly damaging |
Het |
| Mrgprb4 |
C |
T |
7: 47,848,449 (GRCm39) |
G160R |
possibly damaging |
Het |
| Myb |
A |
G |
10: 21,028,516 (GRCm39) |
S116P |
probably damaging |
Het |
| Nf2 |
G |
A |
11: 4,730,613 (GRCm39) |
Q513* |
probably null |
Het |
| Nmnat3 |
C |
T |
9: 98,292,205 (GRCm39) |
T150M |
possibly damaging |
Het |
| Obi1 |
A |
G |
14: 104,716,693 (GRCm39) |
V560A |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,216 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or12k8 |
C |
A |
2: 36,974,942 (GRCm39) |
V273F |
probably benign |
Het |
| Patj |
T |
G |
4: 98,538,691 (GRCm39) |
C210W |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,015,522 (GRCm39) |
H246R |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 51,197,082 (GRCm39) |
H56R |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,546,629 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
C |
T |
11: 32,166,236 (GRCm39) |
S8N |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,027,556 (GRCm39) |
K327E |
possibly damaging |
Het |
| Rsph6a |
T |
A |
7: 18,801,003 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,664,698 (GRCm39) |
N3535S |
probably benign |
Het |
| Ston1 |
T |
G |
17: 88,944,436 (GRCm39) |
V614G |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,138,695 (GRCm39) |
T466S |
possibly damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,144 (GRCm39) |
I262N |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,596 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
A |
8: 46,438,502 (GRCm39) |
S193R |
possibly damaging |
Het |
| Ugt2b5 |
C |
A |
5: 87,287,622 (GRCm39) |
E182* |
probably null |
Het |
| Usp43 |
A |
G |
11: 67,782,290 (GRCm39) |
V376A |
probably benign |
Het |
| Utp15 |
A |
T |
13: 98,395,755 (GRCm39) |
F76I |
possibly damaging |
Het |
| Wdr62 |
A |
C |
7: 29,941,673 (GRCm39) |
L1141R |
probably damaging |
Het |
| Zfp418 |
T |
A |
7: 7,175,161 (GRCm39) |
M18K |
probably benign |
Het |
|
| Other mutations in Tshz2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01901:Tshz2
|
APN |
2 |
169,727,456 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01973:Tshz2
|
APN |
2 |
169,726,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02209:Tshz2
|
APN |
2 |
169,726,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Tshz2
|
UTSW |
2 |
169,728,251 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
BB019:Tshz2
|
UTSW |
2 |
169,728,251 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4504001:Tshz2
|
UTSW |
2 |
169,727,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Tshz2
|
UTSW |
2 |
169,726,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Tshz2
|
UTSW |
2 |
169,725,843 (GRCm39) |
missense |
probably benign |
|
|
R1908:Tshz2
|
UTSW |
2 |
169,727,465 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2082:Tshz2
|
UTSW |
2 |
169,728,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Tshz2
|
UTSW |
2 |
169,728,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Tshz2
|
UTSW |
2 |
169,728,326 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2260:Tshz2
|
UTSW |
2 |
169,728,326 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2444:Tshz2
|
UTSW |
2 |
169,726,726 (GRCm39) |
missense |
probably benign |
|
|
R3085:Tshz2
|
UTSW |
2 |
169,725,871 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3904:Tshz2
|
UTSW |
2 |
169,726,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Tshz2
|
UTSW |
2 |
169,727,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Tshz2
|
UTSW |
2 |
169,804,245 (GRCm39) |
intron |
probably benign |
|
|
R4064:Tshz2
|
UTSW |
2 |
169,804,245 (GRCm39) |
intron |
probably benign |
|
|
R4113:Tshz2
|
UTSW |
2 |
169,727,450 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4321:Tshz2
|
UTSW |
2 |
169,727,465 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4458:Tshz2
|
UTSW |
2 |
169,727,008 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4779:Tshz2
|
UTSW |
2 |
169,804,601 (GRCm39) |
intron |
probably benign |
|
|
R4841:Tshz2
|
UTSW |
2 |
169,728,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4945:Tshz2
|
UTSW |
2 |
169,725,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Tshz2
|
UTSW |
2 |
169,804,493 (GRCm39) |
intron |
probably benign |
|
|
R5110:Tshz2
|
UTSW |
2 |
169,726,117 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5404:Tshz2
|
UTSW |
2 |
169,726,240 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5425:Tshz2
|
UTSW |
2 |
169,725,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:Tshz2
|
UTSW |
2 |
169,725,718 (GRCm39) |
missense |
probably benign |
|
|
R5587:Tshz2
|
UTSW |
2 |
169,726,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5832:Tshz2
|
UTSW |
2 |
169,725,965 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6351:Tshz2
|
UTSW |
2 |
169,726,888 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6375:Tshz2
|
UTSW |
2 |
169,727,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Tshz2
|
UTSW |
2 |
169,726,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Tshz2
|
UTSW |
2 |
169,727,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:Tshz2
|
UTSW |
2 |
169,725,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Tshz2
|
UTSW |
2 |
169,726,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Tshz2
|
UTSW |
2 |
169,727,192 (GRCm39) |
missense |
probably benign |
|
|
R7932:Tshz2
|
UTSW |
2 |
169,728,251 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8166:Tshz2
|
UTSW |
2 |
169,725,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8721:Tshz2
|
UTSW |
2 |
169,727,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8855:Tshz2
|
UTSW |
2 |
169,728,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Tshz2
|
UTSW |
2 |
169,726,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Tshz2
|
UTSW |
2 |
169,726,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Tshz2
|
UTSW |
2 |
169,726,013 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9501:Tshz2
|
UTSW |
2 |
169,725,759 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTCTGCCTCCAAGAAAGG -3'
(R):5'- ATACTTGGGTATGCGCTCCAG -3'
Sequencing Primer
(F):5'- CCCCCTAGCTGTGGAGAAAATG -3'
(R):5'- TATGCGCTCCAGCTGGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation