Incidental Mutation 'R5150:Tshz1'
| ID |
395323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshz1
|
| Ensembl Gene |
ENSMUSG00000046982 |
| Gene Name |
teashirt zinc finger family member 1 |
| Synonyms |
Tsh1, teashirt1, D18Bwg1409e, Mtsh1, NY-CO-33, Sdccag33, 5730407I04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5150 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 84031340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1023
(K1023*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060303
AA Change: K1023*
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: K1023*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
195 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
246 |
270 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
307 |
331 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
416 |
440 |
5.34e0 |
SMART |
|
low complexity region
|
497 |
515 |
N/A |
INTRINSIC |
|
HOX
|
890 |
964 |
4.15e-4 |
SMART |
|
ZnF_C2H2
|
976 |
998 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
1044 |
1067 |
4.47e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175783
|
| SMART Domains |
Protein: ENSMUSP00000135640
Gene: ENSMUSG00000046982
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
43 |
67 |
1.7e-4 |
SMART |
|
ZnF_C2H2
|
152 |
176 |
2.3e-2 |
SMART |
|
low complexity region
|
233 |
251 |
N/A |
INTRINSIC |
|
HOX
|
626 |
700 |
2.1e-6 |
SMART |
|
ZnF_C2H2
|
712 |
734 |
1.9e-3 |
SMART |
|
ZnF_C2H2
|
780 |
803 |
1.8e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.9639 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
93% (57/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
| Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
| C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,096,265 (GRCm39) |
D253G |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
| Cops3 |
C |
A |
11: 59,710,839 (GRCm39) |
D377Y |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
| Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
| Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
| Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
| Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
| Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Ksr2 |
A |
C |
5: 117,693,074 (GRCm39) |
E174A |
probably damaging |
Het |
| Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
| Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
| Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
| Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
| Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
| Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
| Pold1 |
A |
G |
7: 44,185,256 (GRCm39) |
V750A |
possibly damaging |
Het |
| Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
| Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
| Sephs1 |
T |
A |
2: 4,904,321 (GRCm39) |
V233E |
possibly damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
| Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
| Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
| Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
| Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,198,413 (GRCm39) |
M1T |
probably null |
Het |
|
| Other mutations in Tshz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Tshz1
|
APN |
18 |
84,031,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02934:Tshz1
|
APN |
18 |
84,031,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU18:Tshz1
|
UTSW |
18 |
84,032,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Tshz1
|
UTSW |
18 |
84,031,375 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0052:Tshz1
|
UTSW |
18 |
84,033,070 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0052:Tshz1
|
UTSW |
18 |
84,033,070 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0364:Tshz1
|
UTSW |
18 |
84,034,249 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0391:Tshz1
|
UTSW |
18 |
84,034,174 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0515:Tshz1
|
UTSW |
18 |
84,034,090 (GRCm39) |
missense |
probably benign |
|
|
R0942:Tshz1
|
UTSW |
18 |
84,031,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0943:Tshz1
|
UTSW |
18 |
84,033,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1472:Tshz1
|
UTSW |
18 |
84,031,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1895:Tshz1
|
UTSW |
18 |
84,031,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Tshz1
|
UTSW |
18 |
84,031,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2860:Tshz1
|
UTSW |
18 |
84,033,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Tshz1
|
UTSW |
18 |
84,033,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4028:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4030:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4031:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4119:Tshz1
|
UTSW |
18 |
84,032,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4233:Tshz1
|
UTSW |
18 |
84,034,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Tshz1
|
UTSW |
18 |
84,033,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Tshz1
|
UTSW |
18 |
84,031,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Tshz1
|
UTSW |
18 |
84,032,987 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5085:Tshz1
|
UTSW |
18 |
84,032,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5124:Tshz1
|
UTSW |
18 |
84,033,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5357:Tshz1
|
UTSW |
18 |
84,033,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Tshz1
|
UTSW |
18 |
84,031,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Tshz1
|
UTSW |
18 |
84,032,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Tshz1
|
UTSW |
18 |
84,032,086 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5778:Tshz1
|
UTSW |
18 |
84,033,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Tshz1
|
UTSW |
18 |
84,032,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Tshz1
|
UTSW |
18 |
84,033,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Tshz1
|
UTSW |
18 |
84,031,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6407:Tshz1
|
UTSW |
18 |
84,034,091 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6425:Tshz1
|
UTSW |
18 |
84,033,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6998:Tshz1
|
UTSW |
18 |
84,033,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7165:Tshz1
|
UTSW |
18 |
84,034,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Tshz1
|
UTSW |
18 |
84,032,944 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7330:Tshz1
|
UTSW |
18 |
84,032,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7491:Tshz1
|
UTSW |
18 |
84,033,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Tshz1
|
UTSW |
18 |
84,032,790 (GRCm39) |
nonsense |
probably null |
|
|
R7592:Tshz1
|
UTSW |
18 |
84,032,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Tshz1
|
UTSW |
18 |
84,034,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7702:Tshz1
|
UTSW |
18 |
84,032,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7844:Tshz1
|
UTSW |
18 |
84,032,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Tshz1
|
UTSW |
18 |
84,032,732 (GRCm39) |
nonsense |
probably null |
|
|
R7941:Tshz1
|
UTSW |
18 |
84,033,517 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7947:Tshz1
|
UTSW |
18 |
84,033,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8435:Tshz1
|
UTSW |
18 |
84,032,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Tshz1
|
UTSW |
18 |
84,033,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Tshz1
|
UTSW |
18 |
84,033,101 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8774-TAIL:Tshz1
|
UTSW |
18 |
84,033,101 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9029:Tshz1
|
UTSW |
18 |
84,031,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9031:Tshz1
|
UTSW |
18 |
84,032,987 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9573:Tshz1
|
UTSW |
18 |
84,032,404 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9584:Tshz1
|
UTSW |
18 |
84,033,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Tshz1
|
UTSW |
18 |
84,031,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9701:Tshz1
|
UTSW |
18 |
84,032,579 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTAGATCAGGTGGTCCTC -3'
(R):5'- ATGACCACCATCAGTCACTGG -3'
Sequencing Primer
(F):5'- ATCAGGTGGTCCTCTGGCG -3'
(R):5'- ACGTGAAGTACCAGCTGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation