Incidental Mutation 'R5404:Tshz2'
ID |
428616 |
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 |
042975-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5404 (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 T
at 169726240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 279
(M279L)
|
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: M279L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104785 Gene: ENSMUSG00000047907 AA Change: M279L
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: M279L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104787 Gene: ENSMUSG00000047907 AA Change: M279L
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
possibly 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 |
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'- AGAGCAGTAAGTTGTGTGGCTC -3'
(R):5'- AATCTGCAAGGGACCCTGTG -3'
Sequencing Primer
(F):5'- AGCAGGTTCCGCTGCAG -3'
(R):5'- ACCCTGTGGTGGAGTCAG -3'
|
Posted On |
2016-09-06 |