Incidental Mutation 'IGL02934:Tshz1'
| ID |
364218 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84031215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1064
(S1064R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: S1064R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: S1064R
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,956,008 (GRCm39) |
R716* |
probably null |
Het |
| Abca8a |
A |
T |
11: 109,931,414 (GRCm39) |
N1246K |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,876,134 (GRCm39) |
Y396H |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,318 (GRCm39) |
S209R |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,484,308 (GRCm39) |
C990* |
probably null |
Het |
| Cachd1 |
C |
T |
4: 100,825,295 (GRCm39) |
S583L |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,374,497 (GRCm39) |
T48A |
probably benign |
Het |
| Ccdc138 |
G |
T |
10: 58,409,402 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,970,112 (GRCm39) |
E2231G |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,979,129 (GRCm39) |
I206V |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,836,633 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
T |
C |
2: 121,809,490 (GRCm39) |
V147A |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,845 (GRCm39) |
V300A |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,749,954 (GRCm39) |
M72K |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,900,944 (GRCm39) |
F340L |
probably benign |
Het |
| Fut1 |
A |
G |
7: 45,268,127 (GRCm39) |
H27R |
possibly damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,840 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,380 (GRCm39) |
P62L |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,882 (GRCm39) |
S1021P |
probably damaging |
Het |
| Krt13 |
A |
C |
11: 100,009,910 (GRCm39) |
L320R |
probably damaging |
Het |
| Ldhal6b |
T |
C |
17: 5,467,819 (GRCm39) |
T372A |
probably benign |
Het |
| Manba |
T |
C |
3: 135,250,510 (GRCm39) |
V379A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,639 (GRCm39) |
V361I |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,693,531 (GRCm39) |
S399G |
probably benign |
Het |
| Mff |
G |
A |
1: 82,724,815 (GRCm39) |
R229H |
probably damaging |
Het |
| Naga |
T |
C |
15: 82,214,401 (GRCm39) |
N370S |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,621 (GRCm39) |
M2045K |
probably benign |
Het |
| Nipal1 |
T |
C |
5: 72,805,250 (GRCm39) |
L7P |
probably damaging |
Het |
| Or10p22 |
T |
A |
10: 128,825,958 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,516,491 (GRCm39) |
M187K |
probably benign |
Het |
| Perp |
A |
T |
10: 18,731,520 (GRCm39) |
T160S |
probably damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,516,690 (GRCm39) |
D169N |
probably damaging |
Het |
| Sel1l |
G |
A |
12: 91,776,710 (GRCm39) |
Q711* |
probably null |
Het |
| Septin5 |
T |
C |
16: 18,448,581 (GRCm39) |
Y7C |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,863,395 (GRCm39) |
N48I |
probably benign |
Het |
| Stard6 |
T |
A |
18: 70,629,175 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,025,200 (GRCm39) |
V396A |
probably benign |
Het |
| Tcaf3 |
T |
G |
6: 42,570,832 (GRCm39) |
M307L |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,938,778 (GRCm39) |
N757D |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,947,446 (GRCm39) |
D305V |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,516,862 (GRCm39) |
M213L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,028,888 (GRCm39) |
E159G |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,268,266 (GRCm39) |
E983K |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,914 (GRCm39) |
I288N |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,149,947 (GRCm39) |
V445A |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,334,342 (GRCm39) |
T813M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,346,020 (GRCm39) |
H2754Y |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation