Incidental Mutation 'R4945:Tshz2'
ID |
381283 |
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 |
042542-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4945 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
169474933-169913736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 169725794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 130
(Y130C)
|
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: Y130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104785 Gene: ENSMUSG00000047907 AA Change: Y130C
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: Y130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104787 Gene: ENSMUSG00000047907 AA Change: Y130C
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
G |
A |
2: 26,876,622 (GRCm39) |
R512H |
probably damaging |
Het |
Adgrl2 |
T |
A |
3: 148,528,672 (GRCm39) |
M1158L |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,659,895 (GRCm39) |
H153Q |
probably damaging |
Het |
Aldh1a2 |
C |
A |
9: 71,123,198 (GRCm39) |
Q24K |
probably benign |
Het |
Atp1b1 |
A |
G |
1: 164,265,867 (GRCm39) |
V298A |
probably damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,631,163 (GRCm39) |
N74K |
possibly damaging |
Het |
Cep135 |
A |
G |
5: 76,745,275 (GRCm39) |
D229G |
probably benign |
Het |
Cerk |
C |
G |
15: 86,040,802 (GRCm39) |
D186H |
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,948,065 (GRCm39) |
F125S |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,548,106 (GRCm39) |
V650A |
unknown |
Het |
Cuzd1 |
A |
G |
7: 130,918,350 (GRCm39) |
F196L |
probably damaging |
Het |
Esm1 |
T |
G |
13: 113,346,679 (GRCm39) |
|
probably null |
Het |
Fbn2 |
T |
A |
18: 58,183,325 (GRCm39) |
I1787F |
possibly damaging |
Het |
Gm1110 |
T |
C |
9: 26,831,891 (GRCm39) |
M87V |
possibly damaging |
Het |
Gpr179 |
T |
C |
11: 97,240,544 (GRCm39) |
H293R |
probably damaging |
Het |
Grk2 |
A |
G |
19: 4,340,475 (GRCm39) |
I302T |
probably damaging |
Het |
Hoxb6 |
A |
G |
11: 96,190,085 (GRCm39) |
Y28C |
possibly damaging |
Het |
Ift27 |
A |
G |
15: 78,048,454 (GRCm39) |
V110A |
probably damaging |
Het |
Igfbp7 |
T |
C |
5: 77,499,104 (GRCm39) |
D267G |
probably benign |
Het |
Ighv1-49 |
C |
A |
12: 115,019,028 (GRCm39) |
V56L |
possibly damaging |
Het |
Ighv8-8 |
C |
T |
12: 115,257,881 (GRCm39) |
M53I |
probably benign |
Het |
Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
Kif12 |
C |
T |
4: 63,086,730 (GRCm39) |
|
probably null |
Het |
Lrif1 |
A |
C |
3: 106,643,069 (GRCm39) |
I725L |
probably damaging |
Het |
Lrrk2 |
T |
C |
15: 91,689,123 (GRCm39) |
V2265A |
probably benign |
Het |
Med25 |
T |
C |
7: 44,532,526 (GRCm39) |
N438S |
possibly damaging |
Het |
Mex3b |
A |
T |
7: 82,519,382 (GRCm39) |
T566S |
probably benign |
Het |
Mkx |
T |
C |
18: 7,000,657 (GRCm39) |
N95S |
possibly damaging |
Het |
Morc3 |
A |
T |
16: 93,668,082 (GRCm39) |
D820V |
probably damaging |
Het |
Mroh4 |
G |
T |
15: 74,483,857 (GRCm39) |
N562K |
probably benign |
Het |
Ndst3 |
A |
T |
3: 123,346,201 (GRCm39) |
I276N |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,019,037 (GRCm39) |
N733S |
probably benign |
Het |
Or10a5 |
A |
T |
7: 106,635,526 (GRCm39) |
M55L |
probably benign |
Het |
Or2l13b |
C |
A |
16: 19,349,307 (GRCm39) |
R121L |
probably benign |
Het |
Or51k1 |
G |
A |
7: 103,661,585 (GRCm39) |
T108I |
possibly damaging |
Het |
Or5ak24 |
T |
C |
2: 85,260,895 (GRCm39) |
T93A |
probably benign |
Het |
Or5m13 |
T |
A |
2: 85,748,917 (GRCm39) |
I216N |
possibly damaging |
Het |
Or8b38 |
G |
T |
9: 37,973,068 (GRCm39) |
G151C |
probably damaging |
Het |
Or8b44 |
A |
T |
9: 38,410,585 (GRCm39) |
I207F |
probably damaging |
Het |
Or8k37 |
T |
C |
2: 86,469,833 (GRCm39) |
Y73C |
probably damaging |
Het |
Patj |
A |
T |
4: 98,383,301 (GRCm39) |
N268Y |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,774,173 (GRCm39) |
D446E |
probably damaging |
Het |
Pcdhga11 |
A |
G |
18: 37,891,085 (GRCm39) |
T698A |
probably benign |
Het |
Pde6a |
T |
C |
18: 61,367,790 (GRCm39) |
V266A |
probably damaging |
Het |
Phax |
G |
T |
18: 56,709,063 (GRCm39) |
R209L |
probably damaging |
Het |
Pld2 |
T |
A |
11: 70,446,524 (GRCm39) |
M20K |
probably damaging |
Het |
Rabl3 |
T |
C |
16: 37,362,220 (GRCm39) |
S20P |
probably damaging |
Het |
Rad51 |
T |
A |
2: 118,957,629 (GRCm39) |
V174E |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,319,851 (GRCm39) |
E1090G |
probably benign |
Het |
Rfc3 |
T |
C |
5: 151,566,450 (GRCm39) |
E333G |
probably damaging |
Het |
Rfx6 |
T |
G |
10: 51,602,947 (GRCm39) |
Y821* |
probably null |
Het |
Riok3 |
A |
G |
18: 12,261,972 (GRCm39) |
D2G |
probably damaging |
Het |
Rtn1 |
G |
T |
12: 72,264,258 (GRCm39) |
A183E |
probably damaging |
Het |
Skint8 |
T |
C |
4: 111,796,805 (GRCm39) |
L303P |
probably damaging |
Het |
Slc36a2 |
C |
A |
11: 55,065,520 (GRCm39) |
V162L |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,752,587 (GRCm39) |
V794A |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,444,021 (GRCm39) |
|
probably null |
Het |
Tbk1 |
T |
C |
10: 121,387,174 (GRCm39) |
N707S |
probably damaging |
Het |
Tchhl1 |
A |
T |
3: 93,378,883 (GRCm39) |
H529L |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,960,633 (GRCm39) |
H106Q |
probably benign |
Het |
Trim8 |
A |
G |
19: 46,491,214 (GRCm39) |
E111G |
probably benign |
Het |
Txndc15 |
T |
A |
13: 55,865,978 (GRCm39) |
D147E |
probably benign |
Het |
Vmn1r172 |
T |
A |
7: 23,359,745 (GRCm39) |
L210H |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,150,105 (GRCm39) |
V106A |
probably damaging |
Het |
Vmn2r49 |
T |
A |
7: 9,720,214 (GRCm39) |
K426* |
probably null |
Het |
Wnk2 |
C |
T |
13: 49,210,722 (GRCm39) |
R206Q |
probably damaging |
Het |
Zfp1007 |
A |
T |
5: 109,824,941 (GRCm39) |
C170S |
possibly damaging |
Het |
Zfp473 |
T |
C |
7: 44,383,988 (GRCm39) |
N115S |
probably benign |
Het |
Zfp536 |
G |
T |
7: 37,269,161 (GRCm39) |
A85D |
probably damaging |
Het |
Zfp853 |
C |
A |
5: 143,274,584 (GRCm39) |
Q345H |
unknown |
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 |
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'- CCCAGAGCAGAAAGGCTACTTC -3'
(R):5'- TAGGCTGGGCTTAGAGACAGAC -3'
Sequencing Primer
(F):5'- TACTTCAGCTGCCAGAACTC -3'
(R):5'- CCGGGAAGGCAAGTTCTG -3'
|
Posted On |
2016-04-27 |