Incidental Mutation 'R4021:Tshz2'
| ID |
313217 |
| 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 |
040955-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4021 (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 169727782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 324
(D324N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109157]
[ENSMUST00000109159]
[ENSMUST00000123300]
[ENSMUST00000140699]
[ENSMUST00000185239]
|
| AlphaFold |
Q68FE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109157
AA Change: D793N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: D793N
| 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 |
probably damaging
Transcript: ENSMUST00000109159
AA Change: D793N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: D793N
| 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 |
probably damaging
Transcript: ENSMUST00000123300
AA Change: D324N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907
AA Change: D324N
| 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 damaging
Transcript: ENSMUST00000140699
AA Change: D10N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120013
Gene: ENSMUSG00000047907
AA Change: D10N
| 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 |
probably damaging
Transcript: ENSMUST00000185239
AA Change: D324N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907
AA Change: D324N
| 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 |
0.5705 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
A |
G |
3: 6,685,148 (GRCm39) |
L102P |
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
T |
17: 43,741,605 (GRCm39) |
|
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,892,938 (GRCm39) |
K643R |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,257 (GRCm39) |
T428M |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,593 (GRCm39) |
D331G |
possibly damaging |
Het |
| Chmp3 |
T |
C |
6: 71,551,222 (GRCm39) |
|
probably null |
Het |
| Csnk2a1 |
C |
T |
2: 152,100,609 (GRCm39) |
T127M |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
| Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,892,157 (GRCm39) |
|
probably null |
Het |
| Dock9 |
T |
C |
14: 121,864,324 (GRCm39) |
K761E |
possibly damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Fam107b |
G |
A |
2: 3,779,511 (GRCm39) |
R238Q |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,839,680 (GRCm39) |
T2188S |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,595,499 (GRCm39) |
T465A |
probably damaging |
Het |
| Fibp |
T |
C |
19: 5,510,762 (GRCm39) |
|
probably null |
Het |
| Flywch2 |
G |
A |
17: 23,996,013 (GRCm39) |
T128I |
possibly damaging |
Het |
| Foxi2 |
A |
T |
7: 135,012,259 (GRCm39) |
D49V |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,536,282 (GRCm39) |
T31A |
probably benign |
Het |
| Gabbr2 |
G |
A |
4: 46,846,435 (GRCm39) |
T158I |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,268,789 (GRCm39) |
R455W |
probably damaging |
Het |
| Got2 |
T |
G |
8: 96,604,381 (GRCm39) |
D69A |
probably damaging |
Het |
| Gpr63 |
T |
C |
4: 25,008,470 (GRCm39) |
F398S |
possibly damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,556 (GRCm39) |
M186V |
probably benign |
Het |
| Haus2 |
A |
T |
2: 120,446,411 (GRCm39) |
Q111L |
probably damaging |
Het |
| Hexd |
T |
C |
11: 121,108,987 (GRCm39) |
|
probably null |
Het |
| Igf2r |
T |
A |
17: 12,967,638 (GRCm39) |
N27I |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,732,311 (GRCm39) |
|
probably null |
Het |
| Krit1 |
T |
A |
5: 3,882,132 (GRCm39) |
I596K |
probably benign |
Het |
| Lair1 |
A |
G |
7: 4,058,915 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
G |
T |
7: 3,914,417 (GRCm39) |
T276K |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrgprb1 |
A |
T |
7: 48,096,871 (GRCm39) |
I347N |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,954,582 (GRCm39) |
C682S |
possibly damaging |
Het |
| Mtif3 |
T |
A |
5: 146,892,488 (GRCm39) |
R249S |
possibly damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,389,593 (GRCm39) |
E3406K |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,764,331 (GRCm39) |
H1315R |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,328,011 (GRCm39) |
F681L |
probably benign |
Het |
| Or2ag19 |
T |
A |
7: 106,444,226 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5l14 |
T |
A |
2: 87,793,066 (GRCm39) |
T57S |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,663,529 (GRCm39) |
N390D |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
| Sag |
A |
T |
1: 87,749,027 (GRCm39) |
|
probably null |
Het |
| Septin4 |
A |
G |
11: 87,458,106 (GRCm39) |
E160G |
probably damaging |
Het |
| Slc22a2 |
T |
C |
17: 12,803,376 (GRCm39) |
L70P |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
| Taar7a |
G |
T |
10: 23,869,284 (GRCm39) |
N32K |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,432,895 (GRCm39) |
T435K |
probably damaging |
Het |
| Tril |
T |
G |
6: 53,796,004 (GRCm39) |
D406A |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,801,631 (GRCm39) |
V2349A |
possibly damaging |
Het |
| Wdr6 |
A |
G |
9: 108,452,405 (GRCm39) |
W493R |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,058,875 (GRCm39) |
V323I |
probably benign |
Het |
| Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
probably benign |
Het |
| Zic4 |
A |
G |
9: 91,261,089 (GRCm39) |
T108A |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,231,278 (GRCm39) |
D745G |
possibly damaging |
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 |
|
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 |
|
R4355:Tshz2
|
UTSW |
2 |
169,726,858 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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'- CCCGTGTTCCATAAATCCAGC -3'
(R):5'- AACTGAGCTTGCAGGATGAG -3'
Sequencing Primer
(F):5'- TGGACAAGCCGGTCATAAGTCC -3'
(R):5'- AGAAGATGCTGGGGGTTCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation