Incidental Mutation 'R2860:Tshz1'
| ID |
252868 |
| 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 |
040450-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2860 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 84033105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 434
(H434Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: H434Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: H434Q
| 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 |
0.5317 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (44/44) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,259,057 (GRCm39) |
S2928G |
probably damaging |
Het |
| Abcc9 |
C |
T |
6: 142,571,736 (GRCm39) |
V1131M |
probably benign |
Het |
| Abcd1 |
T |
A |
X: 72,781,064 (GRCm39) |
L713H |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,237,627 (GRCm39) |
I52V |
probably benign |
Het |
| Ang |
G |
T |
14: 51,339,275 (GRCm39) |
D139Y |
probably damaging |
Het |
| Ano1 |
C |
T |
7: 144,143,749 (GRCm39) |
G1011E |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,431,479 (GRCm39) |
Y46C |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,961,785 (GRCm39) |
W2386R |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,598,277 (GRCm39) |
D250G |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,756,296 (GRCm39) |
N836S |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,019,998 (GRCm39) |
S2079N |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,868 (GRCm39) |
V114A |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,082,854 (GRCm39) |
T471A |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,953,732 (GRCm39) |
S959C |
probably damaging |
Het |
| Cap1 |
A |
T |
4: 122,758,518 (GRCm39) |
S221T |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,300,485 (GRCm39) |
|
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,775 (GRCm39) |
S130G |
probably damaging |
Het |
| Cd8b1 |
A |
G |
6: 71,311,085 (GRCm39) |
R202G |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,687,792 (GRCm39) |
|
probably null |
Het |
| Cps1 |
A |
T |
1: 67,205,534 (GRCm39) |
E519V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,449,138 (GRCm39) |
R72W |
probably benign |
Het |
| Cyp3a16 |
A |
T |
5: 145,392,309 (GRCm39) |
Y215* |
probably null |
Het |
| Dennd10 |
T |
C |
19: 60,803,232 (GRCm39) |
S80P |
probably benign |
Het |
| F5 |
A |
T |
1: 164,012,533 (GRCm39) |
K482N |
probably damaging |
Het |
| Gab1 |
T |
C |
8: 81,511,382 (GRCm39) |
M488V |
probably benign |
Het |
| Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
| Gbx2 |
C |
T |
1: 89,856,853 (GRCm39) |
R179Q |
probably damaging |
Het |
| Gm11938 |
C |
A |
11: 99,493,972 (GRCm39) |
R41L |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,654,664 (GRCm39) |
D72G |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,761,746 (GRCm39) |
S545P |
probably benign |
Het |
| Hsd3b7 |
T |
G |
7: 127,401,442 (GRCm39) |
L189R |
probably damaging |
Het |
| Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
| Il18r1 |
T |
C |
1: 40,537,717 (GRCm39) |
V494A |
possibly damaging |
Het |
| Inka1 |
T |
C |
9: 107,861,603 (GRCm39) |
T238A |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,750,315 (GRCm39) |
|
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,179 (GRCm39) |
K487R |
probably benign |
Het |
| Kdf1 |
G |
A |
4: 133,255,852 (GRCm39) |
E190K |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,586,807 (GRCm39) |
L723F |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,829,040 (GRCm39) |
T2034A |
probably benign |
Het |
| Maged1 |
G |
A |
X: 93,582,530 (GRCm39) |
P366S |
probably damaging |
Het |
| Med14 |
A |
G |
X: 12,585,936 (GRCm39) |
I521T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,201,196 (GRCm39) |
K841E |
probably damaging |
Het |
| Mrgbp |
G |
A |
2: 180,225,203 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Nmnat2 |
G |
A |
1: 152,988,171 (GRCm39) |
V267I |
probably benign |
Het |
| Opn4 |
A |
G |
14: 34,315,785 (GRCm39) |
|
probably null |
Het |
| Or2d2b |
T |
A |
7: 106,705,675 (GRCm39) |
H131L |
probably benign |
Het |
| Or4f56 |
G |
T |
2: 111,703,818 (GRCm39) |
C127* |
probably null |
Het |
| Or5p66 |
A |
G |
7: 107,886,169 (GRCm39) |
S55P |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,298 (GRCm39) |
Y95H |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Parp16 |
G |
T |
9: 65,141,086 (GRCm39) |
D219Y |
probably damaging |
Het |
| Pitpnm2 |
G |
C |
5: 124,259,500 (GRCm39) |
H1224Q |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,784,420 (GRCm39) |
T322I |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,404,267 (GRCm39) |
T2299P |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,413,668 (GRCm39) |
D319G |
probably damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,571,782 (GRCm39) |
S122R |
possibly damaging |
Het |
| Pum3 |
A |
T |
19: 27,397,525 (GRCm39) |
|
probably benign |
Het |
| Pwwp3b |
G |
A |
X: 138,137,429 (GRCm39) |
G656S |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,503,227 (GRCm39) |
F653I |
probably benign |
Het |
| Rnf113a1 |
A |
G |
X: 36,455,736 (GRCm39) |
E231G |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,023 (GRCm39) |
L225P |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,607,979 (GRCm39) |
E876G |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,386,003 (GRCm39) |
V115M |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,188,116 (GRCm39) |
I798N |
probably benign |
Het |
| Sri |
A |
T |
5: 8,117,540 (GRCm39) |
Q178L |
probably benign |
Het |
| Tex14 |
T |
G |
11: 87,365,243 (GRCm39) |
D62E |
probably damaging |
Het |
| Vegfd |
A |
G |
X: 163,168,879 (GRCm39) |
E57G |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,696,427 (GRCm39) |
I105T |
possibly damaging |
Het |
| Vmn2r6 |
G |
T |
3: 64,454,760 (GRCm39) |
T513N |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,044 (GRCm39) |
I335N |
probably damaging |
Het |
| Wiz |
G |
T |
17: 32,580,680 (GRCm39) |
T257K |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,847,444 (GRCm39) |
S41P |
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,848,881 (GRCm39) |
M1V |
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 |
|
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 |
|
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'- CAGTGGCATCTTCAGTCTCC -3'
(R):5'- ACTGAGGTTGCACTGAGTGAG -3'
Sequencing Primer
(F):5'- CTTCTCTTCTGAGGCTACAGAG -3'
(R):5'- CTGAGTGAGTCAGCCAAGGACC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation