Incidental Mutation 'R9501:Tshz2'
| ID |
717548 |
| 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 # |
R9501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
169474933-169913736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 169725759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 118
(E118D)
|
| 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: E118D
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: E118D
| 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: E118D
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: E118D
| 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: 99.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,214,853 (GRCm39) |
V439D |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,379,125 (GRCm39) |
S664P |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,282,019 (GRCm39) |
S202G |
unknown |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,735,032 (GRCm39) |
K782R |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,515,999 (GRCm39) |
Q180R |
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,542,477 (GRCm39) |
S372P |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,481 (GRCm39) |
S1587G |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,294 (GRCm39) |
I787N |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,452,045 (GRCm39) |
I1317L |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,777,322 (GRCm39) |
E850* |
probably null |
Het |
| Clpb |
G |
A |
7: 101,427,780 (GRCm39) |
G375D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,328,235 (GRCm39) |
I124F |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,363 (GRCm39) |
N271S |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,722,961 (GRCm39) |
D479G |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,419,041 (GRCm39) |
C611S |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,928,992 (GRCm39) |
V1299L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,849 (GRCm39) |
Y1814C |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,209,130 (GRCm39) |
C1082R |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,207,920 (GRCm39) |
N450K |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,470,990 (GRCm39) |
I4925F |
possibly damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,500 (GRCm39) |
V396E |
probably benign |
Het |
| Kin |
G |
T |
2: 10,085,478 (GRCm39) |
A13S |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,172,247 (GRCm39) |
R1581C |
|
Het |
| Myl2 |
T |
C |
5: 122,241,921 (GRCm39) |
I66T |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,134,137 (GRCm39) |
C219R |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,664,757 (GRCm39) |
Y100N |
probably damaging |
Het |
| Pdk4 |
A |
G |
6: 5,491,084 (GRCm39) |
L227P |
probably damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,177 (GRCm39) |
E240D |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,204,156 (GRCm39) |
L46P |
|
Het |
| Pik3ca |
A |
G |
3: 32,504,062 (GRCm39) |
Y584C |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,779,037 (GRCm39) |
S230P |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,241,355 (GRCm39) |
F315S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,039 (GRCm39) |
R542G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,579 (GRCm39) |
N106S |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,122 (GRCm39) |
N775K |
probably damaging |
Het |
| Slc13a2 |
G |
A |
11: 78,291,633 (GRCm39) |
T340M |
probably damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,875,257 (GRCm39) |
Y438C |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,617,977 (GRCm39) |
Q336R |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,632,611 (GRCm39) |
V160A |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,060,506 (GRCm39) |
D183V |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Stxbp1 |
G |
A |
2: 32,692,825 (GRCm39) |
A397V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,535,092 (GRCm39) |
H20R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,718,923 (GRCm39) |
D2626E |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,858,265 (GRCm39) |
M694T |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,398,464 (GRCm39) |
A284V |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,176,943 (GRCm39) |
T327S |
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,510,404 (GRCm39) |
W274R |
unknown |
Het |
| Tshz3 |
A |
G |
7: 36,470,980 (GRCm39) |
T990A |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,925,557 (GRCm39) |
D224G |
probably benign |
Het |
| Vmn2r130 |
A |
G |
17: 23,282,650 (GRCm39) |
Q110R |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,890 (GRCm39) |
K537R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGCAGAAAGGCTACTTC -3'
(R):5'- TAGGCTGGGCTTAGAGACAG -3'
Sequencing Primer
(F):5'- TACTTCAGCTGCCAGAACTC -3'
(R):5'- CCGGGAAGGCAAGTTCTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation