Incidental Mutation 'R9376:Tshz2'
| ID |
709602 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
169474933-169913736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 169726013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 203
(S203N)
|
| 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: S203N
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: S203N
| 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: S203N
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: S203N
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,893,438 (GRCm39) |
L1296H |
probably damaging |
Het |
| Abcb4 |
A |
T |
5: 9,008,988 (GRCm39) |
D1215V |
probably damaging |
Het |
| Ache |
A |
C |
5: 137,289,025 (GRCm39) |
I244L |
probably benign |
Het |
| Ankrd13d |
A |
T |
19: 4,332,250 (GRCm39) |
V58D |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,496,782 (GRCm39) |
L789S |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,863,290 (GRCm39) |
V129A |
probably damaging |
Het |
| Cldn11 |
T |
C |
3: 31,217,410 (GRCm39) |
S193P |
possibly damaging |
Het |
| Clpb |
A |
T |
7: 101,360,625 (GRCm39) |
R218S |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,875,258 (GRCm39) |
S231G |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,639,591 (GRCm39) |
Y574H |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,709,523 (GRCm39) |
R2498H |
unknown |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,594 (GRCm39) |
V108A |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,178 (GRCm39) |
N217K |
probably damaging |
Het |
| Dao |
T |
A |
5: 114,147,901 (GRCm39) |
M1K |
probably null |
Het |
| Dchs1 |
A |
G |
7: 105,414,981 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
A |
T |
9: 64,819,974 (GRCm39) |
I1809L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,568,058 (GRCm39) |
|
probably null |
Het |
| Epn1 |
A |
T |
7: 5,086,720 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,080,719 (GRCm39) |
S267P |
probably damaging |
Het |
| Gm17732 |
G |
T |
18: 62,795,936 (GRCm39) |
V41L |
probably damaging |
Het |
| Gpaa1 |
C |
A |
15: 76,218,826 (GRCm39) |
T556K |
possibly damaging |
Het |
| Gpr65 |
T |
A |
12: 98,241,523 (GRCm39) |
S59T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,124,695 (GRCm39) |
V568A |
possibly damaging |
Het |
| Ifi205 |
T |
C |
1: 173,854,221 (GRCm39) |
D144G |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,107,112 (GRCm39) |
H993R |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,935 (GRCm39) |
L1075P |
possibly damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,638 (GRCm39) |
V120E |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,970,718 (GRCm39) |
S1762P |
probably damaging |
Het |
| Krt80 |
T |
A |
15: 101,247,978 (GRCm39) |
T221S |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,994,620 (GRCm39) |
D1763G |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,670,286 (GRCm39) |
D606G |
probably benign |
Het |
| Map6d1 |
T |
C |
16: 20,059,933 (GRCm39) |
D44G |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,072,372 (GRCm39) |
I282K |
probably benign |
Het |
| Nalcn |
G |
A |
14: 123,515,713 (GRCm39) |
T1696M |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,924,244 (GRCm39) |
V1591A |
probably benign |
Het |
| Oas1f |
C |
A |
5: 120,986,243 (GRCm39) |
Y65* |
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,662 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,683 (GRCm39) |
T163S |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,746,971 (GRCm39) |
T8S |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,471 (GRCm39) |
I102K |
possibly damaging |
Het |
| Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
| Pigyl |
A |
G |
9: 22,069,324 (GRCm39) |
I12V |
probably benign |
Het |
| Pno1 |
A |
T |
11: 17,158,791 (GRCm39) |
D202E |
probably benign |
Het |
| Ppp5c |
A |
T |
7: 16,743,849 (GRCm39) |
M195K |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,598 (GRCm39) |
F1905Y |
possibly damaging |
Het |
| Ptpn11 |
C |
A |
5: 121,282,681 (GRCm39) |
D435Y |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,544,164 (GRCm39) |
Y140C |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,225 (GRCm39) |
E339G |
possibly damaging |
Het |
| Scube3 |
G |
T |
17: 28,383,670 (GRCm39) |
K480N |
possibly damaging |
Het |
| Sephs1 |
T |
A |
2: 4,910,469 (GRCm39) |
M313K |
probably benign |
Het |
| Tcaim |
T |
C |
9: 122,655,995 (GRCm39) |
W304R |
probably damaging |
Het |
| Terf2ip |
C |
T |
8: 112,738,514 (GRCm39) |
T134I |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,744,528 (GRCm39) |
T282A |
probably benign |
Het |
| Tnfrsf18 |
G |
T |
4: 156,112,448 (GRCm39) |
A102S |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
| Triqk |
A |
G |
4: 12,962,987 (GRCm39) |
T9A |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,561,128 (GRCm39) |
V573I |
unknown |
Het |
| Zfhx4 |
A |
G |
3: 5,306,833 (GRCm39) |
K20E |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,395 (GRCm39) |
D1876G |
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 |
|
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 |
|
R9501:Tshz2
|
UTSW |
2 |
169,725,759 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGATTCCTACTGGTCGG -3'
(R):5'- GGGCATCCTCTTTGTCCATG -3'
Sequencing Primer
(F):5'- GGGCCTCGGCTTCAAGTTATC -3'
(R):5'- CATGTCTTGGAAGGCCCTTTTTCG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation