Incidental Mutation 'R5357:Tshz1'
ID |
434564 |
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 |
MMRRC Submission |
042936-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5357 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84033205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 401
(G401D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
AlphaFold |
Q5DTH5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: G401D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089388 Gene: ENSMUSG00000046982 AA Change: G401D
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 |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.7%
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
T |
C |
4: 137,182,463 (GRCm39) |
V206A |
possibly damaging |
Het |
5730522E02Rik |
A |
T |
11: 25,598,148 (GRCm39) |
C102* |
probably null |
Het |
Brsk2 |
C |
A |
7: 141,538,248 (GRCm39) |
D131E |
possibly damaging |
Het |
Cacng7 |
T |
C |
7: 3,387,452 (GRCm39) |
F112L |
probably benign |
Het |
Ceacam12 |
T |
A |
7: 17,811,384 (GRCm39) |
C282* |
probably null |
Het |
Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
Dyrk1b |
T |
C |
7: 27,884,743 (GRCm39) |
V326A |
possibly damaging |
Het |
Eloa |
T |
C |
4: 135,736,559 (GRCm39) |
D563G |
probably benign |
Het |
Evi5l |
A |
G |
8: 4,253,623 (GRCm39) |
K489R |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Galntl6 |
T |
C |
8: 58,337,497 (GRCm39) |
E326G |
probably damaging |
Het |
Gm1758 |
G |
A |
16: 14,320,218 (GRCm39) |
|
noncoding transcript |
Het |
Grm8 |
A |
T |
6: 27,762,418 (GRCm39) |
L269Q |
probably damaging |
Het |
Hsd17b12 |
A |
G |
2: 93,863,990 (GRCm39) |
I284T |
possibly damaging |
Het |
Hyal6 |
T |
A |
6: 24,734,517 (GRCm39) |
M150K |
probably benign |
Het |
Ift80 |
T |
A |
3: 68,898,113 (GRCm39) |
Q74L |
possibly damaging |
Het |
Krt76 |
T |
C |
15: 101,795,820 (GRCm39) |
K450R |
probably benign |
Het |
Larp1b |
A |
G |
3: 40,978,950 (GRCm39) |
E2G |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Map2k7 |
A |
T |
8: 4,294,461 (GRCm39) |
H253L |
probably damaging |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Mmp2 |
A |
G |
8: 93,559,780 (GRCm39) |
T248A |
possibly damaging |
Het |
Mt1 |
T |
A |
8: 94,906,732 (GRCm39) |
C33S |
probably damaging |
Het |
Obox5 |
T |
A |
7: 15,491,463 (GRCm39) |
M1K |
probably null |
Het |
Pak4 |
A |
G |
7: 28,263,831 (GRCm39) |
S302P |
probably damaging |
Het |
Pcsk2 |
T |
C |
2: 143,415,384 (GRCm39) |
Y66H |
probably benign |
Het |
Pgm3 |
G |
A |
9: 86,438,310 (GRCm39) |
R451* |
probably null |
Het |
Phf10 |
A |
T |
17: 15,174,275 (GRCm39) |
|
probably null |
Het |
Pkd1 |
T |
G |
17: 24,784,764 (GRCm39) |
V402G |
probably damaging |
Het |
Plekha4 |
G |
T |
7: 45,184,195 (GRCm39) |
V61F |
probably damaging |
Het |
Ppfia2 |
G |
A |
10: 106,740,708 (GRCm39) |
|
probably null |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Skil |
A |
G |
3: 31,167,700 (GRCm39) |
H444R |
probably benign |
Het |
Tcn2 |
T |
G |
11: 3,876,017 (GRCm39) |
D137A |
possibly damaging |
Het |
Tnks2 |
G |
A |
19: 36,826,690 (GRCm39) |
|
silent |
Het |
Trh |
T |
A |
6: 92,219,815 (GRCm39) |
D167V |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubqlnl |
T |
A |
7: 103,798,138 (GRCm39) |
Q453L |
probably damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,767,083 (GRCm39) |
K805* |
probably null |
Het |
Wnt16 |
T |
G |
6: 22,291,231 (GRCm39) |
|
probably benign |
Het |
Zc3h11a |
A |
T |
1: 133,550,780 (GRCm39) |
V665E |
probably damaging |
Het |
Zfp456 |
A |
T |
13: 67,520,328 (GRCm39) |
M63K |
possibly damaging |
Het |
Zzef1 |
C |
T |
11: 72,734,159 (GRCm39) |
Q584* |
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 |
R5150:Tshz1
|
UTSW |
18 |
84,031,340 (GRCm39) |
nonsense |
probably null |
|
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'- ACGGGATGGACTGGATCTTC -3'
(R):5'- GAAAGTGCCTCTGAAGGAGC -3'
Sequencing Primer
(F):5'- GGATGGACTGGATCTTCTCCTC -3'
(R):5'- TCTGAAGGAGCCCGTGC -3'
|
Posted On |
2016-10-06 |