Incidental Mutation 'R2404:Tshz3'
| ID |
248860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshz3
|
| Ensembl Gene |
ENSMUSG00000021217 |
| Gene Name |
teashirt zinc finger family member 3 |
| Synonyms |
Zfp537, Tsh3, A630038G13Rik, teashirt3 |
| MMRRC Submission |
040370-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
36397543-36472978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36469805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 598
(Q598L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021641]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021641
AA Change: Q598L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: Q598L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
164 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
214 |
238 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
275 |
299 |
3.83e-2 |
SMART |
|
low complexity region
|
313 |
334 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
386 |
410 |
5.62e0 |
SMART |
|
low complexity region
|
483 |
497 |
N/A |
INTRINSIC |
|
coiled coil region
|
609 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
872 |
N/A |
INTRINSIC |
|
HOX
|
890 |
964 |
2.55e-4 |
SMART |
|
ZnF_C2H2
|
976 |
998 |
8.09e0 |
SMART |
|
ZnF_C2H2
|
1041 |
1064 |
2.4e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.2%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,923 (GRCm39) |
T98A |
possibly damaging |
Het |
| Aifm2 |
A |
G |
10: 61,563,974 (GRCm39) |
I161V |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,336,336 (GRCm39) |
M625T |
possibly damaging |
Het |
| Atp9a |
T |
A |
2: 168,517,283 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
C |
10: 122,285,115 (GRCm39) |
F136L |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,245,715 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,618,463 (GRCm39) |
H867Q |
probably benign |
Het |
| Cdh12 |
C |
T |
15: 21,537,720 (GRCm39) |
T407I |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,451,791 (GRCm39) |
T701M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,561,733 (GRCm39) |
V927A |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,328,047 (GRCm39) |
F3353L |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,185,999 (GRCm39) |
P495S |
probably benign |
Het |
| Egfl7 |
G |
A |
2: 26,479,162 (GRCm39) |
E25K |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hbs1l |
A |
T |
10: 21,171,946 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,709,974 (GRCm39) |
T309I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif12 |
A |
C |
4: 63,088,790 (GRCm39) |
L170R |
probably damaging |
Het |
| Krt90 |
A |
G |
15: 101,463,105 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
G |
10: 59,303,526 (GRCm39) |
S104P |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,936,789 (GRCm39) |
P374S |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,287,128 (GRCm39) |
|
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,202,568 (GRCm39) |
I231V |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,546 (GRCm39) |
I173N |
probably damaging |
Het |
| Or2w1b |
T |
C |
13: 21,300,012 (GRCm39) |
L50P |
probably damaging |
Het |
| Or5k17 |
G |
A |
16: 58,745,998 (GRCm39) |
S312L |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,346,899 (GRCm39) |
S158G |
probably benign |
Het |
| Phlpp1 |
C |
T |
1: 106,100,569 (GRCm39) |
T279M |
probably benign |
Het |
| Pkhd1l1 |
T |
G |
15: 44,414,216 (GRCm39) |
W2828G |
probably damaging |
Het |
| Pnma8a |
A |
T |
7: 16,694,316 (GRCm39) |
N57I |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,749 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,522,460 (GRCm39) |
Y531C |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,080,750 (GRCm39) |
T1605A |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,987,267 (GRCm39) |
Y106C |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,756 (GRCm39) |
H87L |
probably benign |
Het |
| Slc4a7 |
G |
T |
14: 14,733,733 (GRCm38) |
V54L |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,216 (GRCm39) |
N1137S |
unknown |
Het |
| Spice1 |
T |
C |
16: 44,186,989 (GRCm39) |
I162T |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,473,390 (GRCm39) |
R173Q |
probably benign |
Het |
| Sqor |
A |
T |
2: 122,649,943 (GRCm39) |
T396S |
probably benign |
Het |
| Ttc13 |
C |
T |
8: 125,405,736 (GRCm39) |
|
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,933,851 (GRCm39) |
T187A |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,948,558 (GRCm39) |
|
probably null |
Het |
| Zc3h12a |
T |
C |
4: 125,013,316 (GRCm39) |
Y516C |
probably damaging |
Het |
| Zfp616 |
A |
C |
11: 73,975,682 (GRCm39) |
K650N |
probably damaging |
Het |
|
| Other mutations in Tshz3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01875:Tshz3
|
APN |
7 |
36,469,385 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01922:Tshz3
|
APN |
7 |
36,469,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02047:Tshz3
|
APN |
7 |
36,469,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Tshz3
|
APN |
7 |
36,468,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02405:Tshz3
|
APN |
7 |
36,469,075 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02658:Tshz3
|
APN |
7 |
36,468,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02968:Tshz3
|
APN |
7 |
36,469,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Tshz3
|
APN |
7 |
36,470,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03233:Tshz3
|
APN |
7 |
36,469,504 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03296:Tshz3
|
APN |
7 |
36,470,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Tshz3
|
UTSW |
7 |
36,469,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Tshz3
|
UTSW |
7 |
36,469,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Tshz3
|
UTSW |
7 |
36,468,317 (GRCm39) |
missense |
probably benign |
|
|
R0329:Tshz3
|
UTSW |
7 |
36,469,458 (GRCm39) |
missense |
probably benign |
|
|
R0330:Tshz3
|
UTSW |
7 |
36,469,458 (GRCm39) |
missense |
probably benign |
|
|
R0360:Tshz3
|
UTSW |
7 |
36,469,958 (GRCm39) |
missense |
probably benign |
|
|
R0364:Tshz3
|
UTSW |
7 |
36,469,958 (GRCm39) |
missense |
probably benign |
|
|
R0380:Tshz3
|
UTSW |
7 |
36,470,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Tshz3
|
UTSW |
7 |
36,470,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Tshz3
|
UTSW |
7 |
36,468,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Tshz3
|
UTSW |
7 |
36,471,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Tshz3
|
UTSW |
7 |
36,470,785 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1881:Tshz3
|
UTSW |
7 |
36,471,079 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1926:Tshz3
|
UTSW |
7 |
36,468,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Tshz3
|
UTSW |
7 |
36,469,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2447:Tshz3
|
UTSW |
7 |
36,468,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2930:Tshz3
|
UTSW |
7 |
36,471,017 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3879:Tshz3
|
UTSW |
7 |
36,470,962 (GRCm39) |
nonsense |
probably null |
|
|
R4033:Tshz3
|
UTSW |
7 |
36,470,009 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4212:Tshz3
|
UTSW |
7 |
36,469,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Tshz3
|
UTSW |
7 |
36,469,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Tshz3
|
UTSW |
7 |
36,468,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Tshz3
|
UTSW |
7 |
36,470,615 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5139:Tshz3
|
UTSW |
7 |
36,470,450 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5448:Tshz3
|
UTSW |
7 |
36,470,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5516:Tshz3
|
UTSW |
7 |
36,469,775 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5760:Tshz3
|
UTSW |
7 |
36,470,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Tshz3
|
UTSW |
7 |
36,468,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Tshz3
|
UTSW |
7 |
36,451,764 (GRCm39) |
splice site |
probably null |
|
|
R6535:Tshz3
|
UTSW |
7 |
36,468,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Tshz3
|
UTSW |
7 |
36,469,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Tshz3
|
UTSW |
7 |
36,469,994 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7225:Tshz3
|
UTSW |
7 |
36,469,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Tshz3
|
UTSW |
7 |
36,469,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Tshz3
|
UTSW |
7 |
36,471,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7938:Tshz3
|
UTSW |
7 |
36,468,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8344:Tshz3
|
UTSW |
7 |
36,470,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9501:Tshz3
|
UTSW |
7 |
36,470,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Tshz3
|
UTSW |
7 |
36,470,492 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
X0067:Tshz3
|
UTSW |
7 |
36,468,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Tshz3
|
UTSW |
7 |
36,468,221 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1186:Tshz3
|
UTSW |
7 |
36,469,999 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Tshz3
|
UTSW |
7 |
36,468,341 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Tshz3
|
UTSW |
7 |
36,469,999 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Tshz3
|
UTSW |
7 |
36,468,341 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGCTCAGAATGGCACTC -3'
(R):5'- TCCTGACTTTTGAAGCTGCC -3'
Sequencing Primer
(F):5'- TGATGAAGTTGTCCCTGG -3'
(R):5'- GACTTTTGAAGCTGCCGTCGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation