Incidental Mutation 'R5425:Tshz2'
| ID |
426797 |
| 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 |
042991-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5425 (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 169725944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 180
(Q180L)
|
| 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: Q180L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: Q180L
| 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: Q180L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: Q180L
| 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: 97.0%
- 20x: 94.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,864,254 (GRCm39) |
E465G |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Aida |
T |
A |
1: 183,103,201 (GRCm39) |
C174S |
possibly damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,160,286 (GRCm39) |
R104H |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,104,407 (GRCm39) |
L98P |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,798,679 (GRCm39) |
Y20* |
probably null |
Het |
| Arhgap9 |
C |
A |
10: 127,162,287 (GRCm39) |
N314K |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,417,119 (GRCm39) |
Y427H |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Bola3 |
G |
T |
6: 83,326,534 (GRCm39) |
G18W |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,731,334 (GRCm39) |
T138A |
probably benign |
Het |
| Castor1 |
T |
A |
11: 4,171,689 (GRCm39) |
H304Q |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,127,580 (GRCm39) |
Y53H |
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,926,002 (GRCm39) |
D239V |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 94,052,428 (GRCm39) |
Q287L |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,885,371 (GRCm39) |
A415T |
possibly damaging |
Het |
| Cfap74 |
A |
G |
4: 155,540,149 (GRCm39) |
|
probably benign |
Het |
| Crnn |
A |
G |
3: 93,056,456 (GRCm39) |
K414R |
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,656,212 (GRCm39) |
L273P |
possibly damaging |
Het |
| Dab2ip |
T |
G |
2: 35,600,003 (GRCm39) |
H206Q |
probably benign |
Het |
| Dipk2a |
T |
C |
9: 94,419,745 (GRCm39) |
S62G |
probably damaging |
Het |
| Diras2 |
A |
G |
13: 52,662,083 (GRCm39) |
S75P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,218,831 (GRCm39) |
V1757A |
probably benign |
Het |
| Dus4l |
A |
T |
12: 31,690,807 (GRCm39) |
H281Q |
probably damaging |
Het |
| Faah |
A |
T |
4: 115,857,993 (GRCm39) |
M436K |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,478,922 (GRCm39) |
V2656A |
possibly damaging |
Het |
| Ffar1 |
A |
C |
7: 30,560,204 (GRCm39) |
L231R |
probably damaging |
Het |
| Gab1 |
T |
C |
8: 81,527,018 (GRCm39) |
K27E |
probably damaging |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| H2-T5 |
A |
C |
17: 36,479,377 (GRCm39) |
L8R |
probably damaging |
Het |
| Irx6 |
T |
C |
8: 93,404,145 (GRCm39) |
|
probably null |
Het |
| Mcrs1 |
C |
A |
15: 99,141,569 (GRCm39) |
R376L |
probably damaging |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,719 (GRCm39) |
L64F |
possibly damaging |
Het |
| Nck2 |
T |
G |
1: 43,593,552 (GRCm39) |
V253G |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,566,702 (GRCm39) |
T12M |
possibly damaging |
Het |
| Pdpk1 |
A |
T |
17: 24,317,095 (GRCm39) |
L256Q |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,752 (GRCm39) |
D432G |
probably benign |
Het |
| Psg25 |
A |
T |
7: 18,258,709 (GRCm39) |
Y322* |
probably null |
Het |
| Pzp |
G |
A |
6: 128,466,011 (GRCm39) |
A1223V |
probably damaging |
Het |
| Rassf8 |
A |
T |
6: 145,761,268 (GRCm39) |
Y198F |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,573,365 (GRCm39) |
Q42R |
probably benign |
Het |
| Sirpb1b |
A |
C |
3: 15,613,729 (GRCm39) |
C51G |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,150,643 (GRCm39) |
Q316* |
probably null |
Het |
| Spesp1 |
A |
G |
9: 62,189,331 (GRCm39) |
V5A |
possibly damaging |
Het |
| Sprr2e |
G |
A |
3: 92,260,370 (GRCm39) |
C67Y |
unknown |
Het |
| Tcaf3 |
G |
A |
6: 42,573,697 (GRCm39) |
P172S |
probably damaging |
Het |
| Tmem126b |
A |
G |
7: 90,120,155 (GRCm39) |
I72T |
probably benign |
Het |
| Tmem17 |
G |
T |
11: 22,468,624 (GRCm39) |
V188L |
probably benign |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,678 (GRCm39) |
|
probably null |
Het |
| Ttc41 |
A |
T |
10: 86,612,494 (GRCm39) |
I1256F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Ywhag |
G |
T |
5: 135,940,119 (GRCm39) |
H158Q |
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 |
|
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'- TGGCCGAGATGTTTCAGACAAG -3'
(R):5'- CTGTCTCGTTCATGTGCACG -3'
Sequencing Primer
(F):5'- CATAACTGCATGGATAAAATGACAGC -3'
(R):5'- TTCATGTGCACGGTCAGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation