Incidental Mutation 'R5530:Tshz1'
| ID |
433661 |
| 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 |
043088-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5530 (G1)
|
| Quality Score |
93 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84031393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1005
(D1005G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: D1005G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: D1005G
| 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: 98.6%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,154,556 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
A |
G |
2: 25,174,595 (GRCm39) |
K653E |
possibly damaging |
Het |
| Aplp1 |
T |
C |
7: 30,136,254 (GRCm39) |
S508G |
possibly damaging |
Het |
| Bend3 |
T |
A |
10: 43,387,722 (GRCm39) |
V705D |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,968,175 (GRCm39) |
A1120E |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,081 (GRCm39) |
V116A |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,802,459 (GRCm39) |
Y238* |
probably null |
Het |
| Cep170 |
T |
C |
1: 176,597,076 (GRCm39) |
H427R |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,313,334 (GRCm39) |
R3079W |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,615,886 (GRCm39) |
E694* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,952,958 (GRCm39) |
T451S |
probably benign |
Het |
| Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,727 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ficd |
C |
A |
5: 113,876,986 (GRCm39) |
P387Q |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,721 (GRCm39) |
T942A |
probably benign |
Het |
| Hoxb1 |
G |
C |
11: 96,257,754 (GRCm39) |
R228P |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,962,917 (GRCm39) |
F103S |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,836 (GRCm39) |
I402V |
probably benign |
Het |
| Mtcl2 |
T |
A |
2: 156,862,262 (GRCm39) |
S1556C |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,595,095 (GRCm39) |
V250A |
probably benign |
Het |
| Myo1b |
T |
A |
1: 51,836,582 (GRCm39) |
N293I |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,133,512 (GRCm39) |
Y427F |
probably benign |
Het |
| Nrdc |
C |
T |
4: 108,904,806 (GRCm39) |
T747M |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,548,397 (GRCm39) |
P30L |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,656,857 (GRCm39) |
F332S |
probably damaging |
Het |
| Optc |
T |
G |
1: 133,832,828 (GRCm39) |
T91P |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,698 (GRCm39) |
I276T |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,716,103 (GRCm39) |
T299A |
probably benign |
Het |
| Otud7b |
A |
T |
3: 96,048,799 (GRCm39) |
E92V |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,226 (GRCm39) |
L314P |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,100,036 (GRCm39) |
I677T |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,778,893 (GRCm39) |
E67G |
probably damaging |
Het |
| Ppil6 |
T |
C |
10: 41,383,494 (GRCm39) |
S257P |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,988,791 (GRCm39) |
L11P |
probably benign |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,232 (GRCm39) |
M445K |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,499,430 (GRCm39) |
I257K |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,389,861 (GRCm39) |
D9G |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,491,488 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,980,275 (GRCm39) |
I276F |
probably damaging |
Het |
| Sec14l4 |
A |
G |
11: 3,996,342 (GRCm39) |
*404W |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,329,264 (GRCm39) |
V917A |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,887,461 (GRCm39) |
Y131* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,442,517 (GRCm39) |
Y2004F |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,783,026 (GRCm39) |
E674G |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,135,048 (GRCm39) |
S989P |
probably damaging |
Het |
| Wdr19 |
T |
C |
5: 65,385,562 (GRCm39) |
S555P |
probably benign |
Het |
| Zdhhc24 |
T |
A |
19: 4,933,591 (GRCm39) |
|
probably null |
Het |
| Zfp558 |
A |
G |
9: 18,367,669 (GRCm39) |
M373T |
probably benign |
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 |
|
|
R5357:Tshz1
|
UTSW |
18 |
84,033,205 (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'- CGTGCGTCTTACTAAGGTGC -3'
(R):5'- ACATCTCCAAGTTCACGGG -3'
Sequencing Primer
(F):5'- CGTCTTACTAAGGTGCAGTTTTAC -3'
(R):5'- AAGTTCACGGGCCTATCCATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation