Incidental Mutation 'R5110:Tshz2'
| ID |
393787 |
| 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 |
042698-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
169474933-169913736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 169726117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 238
(T238A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109157]
[ENSMUST00000109159]
[ENSMUST00000123300]
[ENSMUST00000140699]
[ENSMUST00000185239]
|
| AlphaFold |
Q68FE9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109157
AA Change: T238A
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: T238A
| 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: T238A
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: T238A
| 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 |
0.1884 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
A |
9: 124,057,987 (GRCm39) |
|
probably null |
Het |
| 2310016G11Rik |
G |
A |
7: 44,327,286 (GRCm39) |
|
noncoding transcript |
Het |
| Abi2 |
G |
A |
1: 60,489,280 (GRCm39) |
V98I |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,989 (GRCm39) |
T258A |
probably benign |
Het |
| Adam33 |
A |
T |
2: 130,895,690 (GRCm39) |
C542S |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,832,740 (GRCm39) |
V265A |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,992,123 (GRCm39) |
D4469V |
probably damaging |
Het |
| Aicda |
A |
G |
6: 122,538,144 (GRCm39) |
N101D |
probably benign |
Het |
| Als2 |
A |
T |
1: 59,224,600 (GRCm39) |
D1040E |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,653,211 (GRCm39) |
R319G |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col1a1 |
T |
C |
11: 94,832,419 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,378,374 (GRCm39) |
*594W |
probably null |
Het |
| Cwf19l2 |
A |
G |
9: 3,450,012 (GRCm39) |
|
probably null |
Het |
| Dctn4 |
C |
T |
18: 60,679,387 (GRCm39) |
P236S |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,697 (GRCm39) |
S556P |
probably benign |
Het |
| Ehmt1 |
C |
A |
2: 24,742,802 (GRCm39) |
C459F |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,945,127 (GRCm39) |
|
probably null |
Het |
| Fam136b-ps |
A |
G |
15: 31,276,856 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
T |
C |
5: 4,806,448 (GRCm39) |
D378G |
probably benign |
Het |
| Golga5 |
G |
A |
12: 102,438,336 (GRCm39) |
R17Q |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,122,430 (GRCm39) |
Y422N |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,999,427 (GRCm39) |
D255G |
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,689,121 (GRCm39) |
V665A |
probably benign |
Het |
| Igkv13-84 |
T |
C |
6: 68,916,592 (GRCm39) |
F3L |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,020,055 (GRCm39) |
S433R |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,941,744 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,327,417 (GRCm39) |
D1471V |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,261,801 (GRCm39) |
D6990E |
probably damaging |
Het |
| Map3k6 |
G |
A |
4: 132,974,859 (GRCm39) |
|
probably benign |
Het |
| Miox |
T |
A |
15: 89,219,759 (GRCm39) |
D82E |
probably benign |
Het |
| Or4n5 |
T |
G |
14: 50,133,032 (GRCm39) |
I76L |
possibly damaging |
Het |
| Ovgp1 |
G |
C |
3: 105,885,099 (GRCm39) |
R133P |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,357,237 (GRCm39) |
T642I |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,449,964 (GRCm39) |
V321A |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,446,312 (GRCm39) |
N17K |
probably benign |
Het |
| Prpf19 |
T |
C |
19: 10,876,651 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,690,496 (GRCm39) |
|
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,963,864 (GRCm39) |
T994S |
probably benign |
Het |
| Slc1a1 |
G |
A |
19: 28,889,208 (GRCm39) |
E494K |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,026,852 (GRCm39) |
K771E |
possibly damaging |
Het |
| Stim1 |
T |
C |
7: 101,917,629 (GRCm39) |
V3A |
unknown |
Het |
| Syne3 |
G |
A |
12: 104,909,629 (GRCm39) |
R736C |
probably benign |
Het |
| Synj2 |
T |
C |
17: 6,087,990 (GRCm39) |
V986A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,859,289 (GRCm39) |
S440P |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,908,562 (GRCm39) |
M17T |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,458,385 (GRCm39) |
R432Q |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,974 (GRCm39) |
|
probably null |
Het |
| Usp4 |
T |
A |
9: 108,239,877 (GRCm39) |
I202N |
probably damaging |
Het |
| Vmn1r194 |
T |
G |
13: 22,429,170 (GRCm39) |
S262R |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,897 (GRCm39) |
F631S |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,770,955 (GRCm39) |
S2133T |
probably damaging |
Het |
| Zfp13 |
C |
A |
17: 23,799,834 (GRCm39) |
V77F |
probably benign |
Het |
| Zscan10 |
T |
A |
17: 23,828,606 (GRCm39) |
C306S |
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 |
|
|
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 |
|
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 |
|
|
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'- AGCAGCGGCAAGAATGATTTTG -3'
(R):5'- TGGACACTCAAATCTTGCAGGG -3'
Sequencing Primer
(F):5'- TTGATTGGCACCAAGATGCC -3'
(R):5'- CTCAAATCTTGCAGGGAATCG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation