Incidental Mutation 'R3085:Tshz2'
ID |
265565 |
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 |
040574-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3085 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
169474933-169913736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 169725871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 156
(C156S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109157]
[ENSMUST00000109159]
[ENSMUST00000123300]
[ENSMUST00000140699]
[ENSMUST00000185239]
|
AlphaFold |
Q68FE9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109157
AA Change: C156S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104785 Gene: ENSMUSG00000047907 AA Change: C156S
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 benign
Transcript: ENSMUST00000109159
AA Change: C156S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104787 Gene: ENSMUSG00000047907 AA Change: C156S
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 benign
Transcript: ENSMUST00000123300
|
SMART Domains |
Protein: ENSMUSP00000118550 Gene: ENSMUSG00000047907
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 |
probably benign
Transcript: ENSMUST00000185239
|
SMART Domains |
Protein: ENSMUSP00000140884 Gene: ENSMUSG00000047907
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 |
0.0713 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (63/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
A |
8: 87,270,536 (GRCm39) |
|
probably benign |
Het |
Adrm1 |
T |
C |
2: 179,816,094 (GRCm39) |
|
probably null |
Het |
Aldh18a1 |
T |
C |
19: 40,562,813 (GRCm39) |
I76V |
probably benign |
Het |
Atp1b2 |
T |
C |
11: 69,493,705 (GRCm39) |
K125E |
possibly damaging |
Het |
Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,923,018 (GRCm39) |
T293A |
probably benign |
Het |
Cenpc1 |
A |
T |
5: 86,185,476 (GRCm39) |
V345D |
probably benign |
Het |
Col4a3 |
A |
G |
1: 82,628,979 (GRCm39) |
E131G |
unknown |
Het |
Col4a4 |
C |
T |
1: 82,507,285 (GRCm39) |
|
probably null |
Het |
Creb3l1 |
G |
T |
2: 91,825,789 (GRCm39) |
|
probably null |
Het |
Dhx9 |
T |
C |
1: 153,341,445 (GRCm39) |
D601G |
probably benign |
Het |
Dipk1a |
G |
T |
5: 108,062,290 (GRCm39) |
D28E |
probably damaging |
Het |
Dnaaf4 |
T |
A |
9: 72,879,688 (GRCm39) |
N289K |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,759,332 (GRCm39) |
E807G |
probably damaging |
Het |
Exog |
C |
A |
9: 119,291,518 (GRCm39) |
T241K |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,344,314 (GRCm39) |
D109G |
probably benign |
Het |
Fat2 |
C |
T |
11: 55,142,997 (GRCm39) |
R4284H |
possibly damaging |
Het |
Fbxw13 |
C |
A |
9: 109,013,299 (GRCm39) |
G130* |
probably null |
Het |
Fcrl5 |
A |
G |
3: 87,353,771 (GRCm39) |
Y372C |
probably damaging |
Het |
Gli3 |
T |
C |
13: 15,835,526 (GRCm39) |
S435P |
probably damaging |
Het |
Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
Havcr1 |
C |
T |
11: 46,647,052 (GRCm39) |
T162I |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,039,340 (GRCm39) |
F947S |
probably damaging |
Het |
Irx1 |
G |
T |
13: 72,111,411 (GRCm39) |
A66E |
probably damaging |
Het |
Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
Kynu |
A |
G |
2: 43,492,312 (GRCm39) |
M190V |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,297,479 (GRCm39) |
T3161A |
probably benign |
Het |
Macrod1 |
G |
T |
19: 7,173,859 (GRCm39) |
A208S |
probably damaging |
Het |
Mamdc2 |
G |
A |
19: 23,288,296 (GRCm39) |
H581Y |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
Mthfd1l |
G |
A |
10: 4,040,007 (GRCm39) |
R806H |
probably benign |
Het |
Nags |
T |
A |
11: 102,036,810 (GRCm39) |
V133D |
probably damaging |
Het |
Nrg3 |
C |
A |
14: 38,092,906 (GRCm39) |
D560Y |
probably damaging |
Het |
Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
Or4p23 |
A |
G |
2: 88,576,488 (GRCm39) |
F248S |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,708,553 (GRCm39) |
S240P |
probably damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pde6d |
T |
C |
1: 86,475,248 (GRCm39) |
|
probably null |
Het |
Plekhf1 |
T |
C |
7: 37,921,001 (GRCm39) |
E189G |
probably benign |
Het |
Ppm1b |
A |
T |
17: 85,321,288 (GRCm39) |
I477L |
probably benign |
Het |
Rad51ap2 |
C |
A |
12: 11,506,758 (GRCm39) |
Q227K |
possibly damaging |
Het |
Rnf125 |
T |
C |
18: 21,110,787 (GRCm39) |
V15A |
probably benign |
Het |
Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
Robo1 |
A |
G |
16: 72,798,898 (GRCm39) |
I953V |
possibly damaging |
Het |
Sash1 |
A |
T |
10: 8,618,186 (GRCm39) |
|
probably null |
Het |
Smarcc2 |
T |
C |
10: 128,324,028 (GRCm39) |
|
probably benign |
Het |
Stx12 |
T |
A |
4: 132,584,672 (GRCm39) |
E224V |
probably damaging |
Het |
Sun1 |
T |
C |
5: 139,221,356 (GRCm39) |
V357A |
probably benign |
Het |
Synpo2l |
T |
C |
14: 20,712,248 (GRCm39) |
D350G |
probably damaging |
Het |
Tex15 |
A |
T |
8: 34,064,913 (GRCm39) |
N1448Y |
probably benign |
Het |
Tfpi |
A |
G |
2: 84,273,227 (GRCm39) |
|
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
Tmem40 |
T |
C |
6: 115,718,576 (GRCm39) |
D43G |
possibly damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
Vmn2r85 |
T |
C |
10: 130,261,081 (GRCm39) |
M419V |
probably benign |
Het |
Wdr73 |
G |
A |
7: 80,550,990 (GRCm39) |
|
probably benign |
Het |
Zc3hc1 |
C |
T |
6: 30,374,763 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,682,664 (GRCm39) |
Y3368H |
unknown |
Het |
Zfp263 |
G |
A |
16: 3,567,580 (GRCm39) |
E632K |
probably damaging |
Het |
Zfp266 |
A |
G |
9: 20,412,240 (GRCm39) |
L111P |
probably damaging |
Het |
Zfp626 |
T |
A |
7: 27,517,587 (GRCm39) |
S189R |
probably benign |
Het |
Zfp772 |
T |
C |
7: 7,206,699 (GRCm39) |
R331G |
possibly damaging |
Het |
Zkscan5 |
G |
A |
5: 145,157,889 (GRCm39) |
C797Y |
probably 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 |
|
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 |
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'- GTGGCCGAGATGTTTCAGAC -3'
(R):5'- TCGTTCATGTGCACGGTCAG -3'
Sequencing Primer
(F):5'- CCGAGATGTTTCAGACAAGAAAGC -3'
(R):5'- ACGGTCAGCTCCACGAGAG -3'
|
Posted On |
2015-02-05 |