Incidental Mutation 'R9163:Tshz2'
| ID |
695823 |
| 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 |
068975-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
169474933-169913736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 169726562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 386
(C386Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109157]
[ENSMUST00000109159]
[ENSMUST00000123300]
[ENSMUST00000140699]
[ENSMUST00000185239]
|
| AlphaFold |
Q68FE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109157
AA Change: C386Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: C386Y
| 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: C386Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: C386Y
| 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 |
|
| Meta Mutation Damage Score |
0.7668 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,393,400 (GRCm39) |
S351P |
possibly damaging |
Het |
| 4930558K02Rik |
A |
G |
1: 161,777,174 (GRCm39) |
S128P |
probably benign |
Het |
| Adam17 |
C |
T |
12: 21,401,588 (GRCm39) |
V136I |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,018,176 (GRCm39) |
T413A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,866,531 (GRCm39) |
K443E |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,567,541 (GRCm39) |
T5211S |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,172,200 (GRCm39) |
N736K |
possibly damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,609,884 (GRCm39) |
W1082* |
probably null |
Het |
| Ap3b2 |
T |
G |
7: 81,113,546 (GRCm39) |
M888L |
unknown |
Het |
| Arhgap35 |
C |
A |
7: 16,295,549 (GRCm39) |
R1172L |
possibly damaging |
Het |
| Arrdc3 |
T |
A |
13: 81,041,506 (GRCm39) |
D402E |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,118 (GRCm39) |
F31L |
possibly damaging |
Het |
| Cd5l |
T |
G |
3: 87,274,932 (GRCm39) |
L157R |
probably benign |
Het |
| Cdc14a |
G |
T |
3: 116,122,213 (GRCm39) |
D251E |
possibly damaging |
Het |
| Cfap210 |
A |
T |
2: 69,606,510 (GRCm39) |
I302K |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,766,645 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,548,729 (GRCm39) |
|
probably null |
Het |
| Ctdsp1 |
G |
T |
1: 74,434,126 (GRCm39) |
R201L |
possibly damaging |
Het |
| Dhx15 |
C |
T |
5: 52,342,198 (GRCm39) |
R40H |
probably damaging |
Het |
| Dnph1 |
A |
G |
17: 46,809,860 (GRCm39) |
Y134C |
probably damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,301 (GRCm39) |
V488D |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,742,944 (GRCm39) |
N1538K |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,111,686 (GRCm39) |
E500V |
probably benign |
Het |
| Hhip |
G |
A |
8: 80,701,743 (GRCm39) |
T597I |
probably benign |
Het |
| Hmgn1 |
A |
G |
16: 95,928,509 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
A |
T |
1: 173,844,988 (GRCm39) |
S265T |
possibly damaging |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,753 (GRCm39) |
M2V |
probably benign |
Het |
| Irgm2 |
T |
G |
11: 58,111,280 (GRCm39) |
S324A |
probably damaging |
Het |
| Jarid2 |
C |
G |
13: 45,064,727 (GRCm39) |
D937E |
possibly damaging |
Het |
| Jrkl |
A |
T |
9: 13,245,404 (GRCm39) |
W86R |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,584 (GRCm39) |
I319M |
probably benign |
Het |
| Klhl7 |
T |
C |
5: 24,364,465 (GRCm39) |
Y500H |
probably damaging |
Het |
| Lats1 |
C |
T |
10: 7,578,052 (GRCm39) |
A392V |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,600,402 (GRCm39) |
A584S |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,403,686 (GRCm39) |
S560Y |
probably damaging |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or8c10 |
T |
A |
9: 38,279,378 (GRCm39) |
C169S |
probably damaging |
Het |
| Pde10a |
G |
A |
17: 9,181,791 (GRCm39) |
C498Y |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,659,123 (GRCm39) |
|
probably null |
Het |
| Pdhx |
G |
A |
2: 102,852,561 (GRCm39) |
P434L |
probably damaging |
Het |
| Pdlim3 |
T |
C |
8: 46,338,711 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
T |
C |
18: 30,427,483 (GRCm39) |
|
probably null |
Het |
| Prkag1 |
T |
C |
15: 98,711,900 (GRCm39) |
K242R |
possibly damaging |
Het |
| Rap1b |
A |
G |
10: 117,654,391 (GRCm39) |
S150P |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,217,076 (GRCm39) |
S1102P |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,921,108 (GRCm39) |
Y1332H |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc13a1 |
C |
T |
6: 24,097,578 (GRCm39) |
|
probably null |
Het |
| Slc17a8 |
A |
G |
10: 89,425,444 (GRCm39) |
V380A |
probably damaging |
Het |
| Slc5a4b |
G |
T |
10: 75,917,165 (GRCm39) |
Y290* |
probably null |
Het |
| Slco4c1 |
A |
G |
1: 96,764,633 (GRCm39) |
F480L |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,121,162 (GRCm39) |
V146A |
unknown |
Het |
| Ssc5d |
T |
A |
7: 4,936,432 (GRCm39) |
D559E |
probably damaging |
Het |
| Sstr5 |
A |
C |
17: 25,710,584 (GRCm39) |
I215S |
probably damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,212,634 (GRCm39) |
C268Y |
probably benign |
Het |
| Stard3nl |
C |
A |
13: 19,560,809 (GRCm39) |
|
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,299,734 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,009,349 (GRCm39) |
M2417L |
possibly damaging |
Het |
| Tenm4 |
T |
G |
7: 96,473,080 (GRCm39) |
Y959D |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,869,570 (GRCm39) |
D588V |
possibly damaging |
Het |
| Tnfrsf26 |
T |
C |
7: 143,172,130 (GRCm39) |
E60G |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,767 (GRCm39) |
R802G |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,096 (GRCm39) |
V360A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,700,771 (GRCm39) |
D61E |
|
Het |
| Upf1 |
T |
C |
8: 70,792,674 (GRCm39) |
T345A |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,718,782 (GRCm39) |
C712S |
probably damaging |
Het |
| Vmn2r44 |
C |
T |
7: 8,371,091 (GRCm39) |
V652I |
probably benign |
Het |
| Wfdc1 |
T |
C |
8: 120,393,302 (GRCm39) |
V8A |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,880,274 (GRCm39) |
Y738C |
probably benign |
Het |
| Zfp618 |
T |
G |
4: 63,051,511 (GRCm39) |
V764G |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,898,261 (GRCm39) |
M221K |
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 |
|
|
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 |
|
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'- TACCAACCATTTCCTCCAAGATGG -3'
(R):5'- GGCCAGAGACTCACTGTTTG -3'
Sequencing Primer
(F):5'- CAGCCAAGAAGCGTGTTTTC -3'
(R):5'- ACTCACTGTTTGGGGTCTCAGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation