Incidental Mutation 'R5718:Tshz1'
ID |
451322 |
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 |
043338-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5718 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84032649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 586
(H586Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
AlphaFold |
Q5DTH5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: H586Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089388 Gene: ENSMUSG00000046982 AA Change: H586Q
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
T |
C |
8: 27,603,514 (GRCm39) |
|
probably null |
Het |
Ahctf1 |
G |
T |
1: 179,596,904 (GRCm39) |
H81N |
possibly damaging |
Het |
Alyref2 |
T |
C |
1: 171,331,678 (GRCm39) |
S152P |
possibly damaging |
Het |
Arhgef7 |
C |
T |
8: 11,835,774 (GRCm39) |
T20I |
probably damaging |
Het |
Armc3 |
T |
G |
2: 19,308,610 (GRCm39) |
Y759* |
probably null |
Het |
Atg5 |
A |
G |
10: 44,238,983 (GRCm39) |
S255G |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,891,665 (GRCm39) |
I1026V |
probably benign |
Het |
Atp1a2 |
C |
A |
1: 172,107,009 (GRCm39) |
K770N |
probably damaging |
Het |
Bptf |
G |
T |
11: 107,002,260 (GRCm39) |
A284E |
probably damaging |
Het |
Celsr2 |
A |
G |
3: 108,300,674 (GRCm39) |
S815P |
probably benign |
Het |
Chrna5 |
A |
G |
9: 54,905,389 (GRCm39) |
H67R |
probably benign |
Het |
Cic |
A |
G |
7: 24,972,203 (GRCm39) |
I645V |
probably benign |
Het |
Clpx |
A |
T |
9: 65,207,246 (GRCm39) |
Q48L |
probably benign |
Het |
Crhr2 |
G |
A |
6: 55,069,085 (GRCm39) |
Q397* |
probably null |
Het |
Cyp11a1 |
G |
A |
9: 57,925,508 (GRCm39) |
V48I |
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,404,955 (GRCm39) |
R2529H |
probably benign |
Het |
Dnah7c |
A |
T |
1: 46,787,826 (GRCm39) |
H3293L |
possibly damaging |
Het |
Dock6 |
G |
T |
9: 21,735,789 (GRCm39) |
D986E |
probably benign |
Het |
Efcab6 |
T |
A |
15: 83,788,439 (GRCm39) |
N952Y |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,029,618 (GRCm39) |
C1327Y |
probably damaging |
Het |
Fbxw18 |
T |
C |
9: 109,520,636 (GRCm39) |
E241G |
probably benign |
Het |
Fsd1 |
T |
G |
17: 56,297,542 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
A |
G |
9: 69,941,552 (GRCm39) |
S339P |
probably benign |
Het |
Gldc |
T |
A |
19: 30,088,172 (GRCm39) |
K829* |
probably null |
Het |
Gli3 |
G |
A |
13: 15,652,750 (GRCm39) |
|
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,566,351 (GRCm39) |
C2217* |
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,485,417 (GRCm39) |
I4395N |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,273,909 (GRCm39) |
M861T |
probably benign |
Het |
Ift172 |
A |
G |
5: 31,412,621 (GRCm39) |
S1545P |
possibly damaging |
Het |
Jak3 |
C |
A |
8: 72,136,998 (GRCm39) |
L725M |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,375,931 (GRCm39) |
C90* |
probably null |
Het |
Mcm7 |
C |
T |
5: 138,163,081 (GRCm39) |
R357H |
possibly damaging |
Het |
Mcoln2 |
T |
C |
3: 145,887,581 (GRCm39) |
S333P |
probably damaging |
Het |
Mrpl22 |
A |
T |
11: 58,068,109 (GRCm39) |
I136L |
probably benign |
Het |
Ncam2 |
A |
T |
16: 81,386,702 (GRCm39) |
|
probably null |
Het |
Ncdn |
G |
A |
4: 126,643,743 (GRCm39) |
Q360* |
probably null |
Het |
Nsun2 |
A |
G |
13: 69,771,403 (GRCm39) |
K338E |
probably benign |
Het |
Obscn |
T |
C |
11: 58,927,634 (GRCm39) |
T6105A |
probably damaging |
Het |
Or2aj6 |
G |
A |
16: 19,443,139 (GRCm39) |
S237F |
probably benign |
Het |
Or8g36 |
A |
T |
9: 39,422,338 (GRCm39) |
L226H |
probably damaging |
Het |
Pcnx4 |
T |
A |
12: 72,613,968 (GRCm39) |
F638I |
possibly damaging |
Het |
Pfn3 |
T |
C |
13: 55,562,853 (GRCm39) |
I43V |
probably benign |
Het |
Pigm |
C |
A |
1: 172,205,012 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
T |
A |
15: 44,408,813 (GRCm39) |
S2433R |
probably damaging |
Het |
Pomt1 |
C |
A |
2: 32,138,704 (GRCm39) |
A440D |
possibly damaging |
Het |
Ptprj |
T |
C |
2: 90,288,613 (GRCm39) |
D691G |
probably benign |
Het |
Qrich1 |
T |
A |
9: 108,406,022 (GRCm39) |
S72T |
probably damaging |
Het |
Ralgapa2 |
T |
A |
2: 146,295,326 (GRCm39) |
|
probably null |
Het |
Rarg |
A |
C |
15: 102,149,502 (GRCm39) |
S156A |
probably damaging |
Het |
Rasl11a |
A |
G |
5: 146,783,954 (GRCm39) |
K133R |
probably benign |
Het |
Rcor1 |
A |
G |
12: 111,068,069 (GRCm39) |
D158G |
probably benign |
Het |
Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
Sipa1l2 |
T |
A |
8: 126,217,987 (GRCm39) |
H450L |
probably damaging |
Het |
Slc25a21 |
T |
C |
12: 56,764,941 (GRCm39) |
I263V |
probably benign |
Het |
Slc25a32 |
A |
T |
15: 38,960,957 (GRCm39) |
V242E |
probably benign |
Het |
Slc5a5 |
T |
A |
8: 71,340,399 (GRCm39) |
T484S |
probably benign |
Het |
Tdrd3 |
T |
C |
14: 87,743,876 (GRCm39) |
V608A |
probably benign |
Het |
Thnsl1 |
C |
A |
2: 21,216,811 (GRCm39) |
H188Q |
possibly damaging |
Het |
Vmn2r27 |
C |
T |
6: 124,169,103 (GRCm39) |
A676T |
possibly damaging |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Xbp1 |
T |
A |
11: 5,471,903 (GRCm39) |
F10I |
probably benign |
Het |
Zbtb1 |
G |
A |
12: 76,433,698 (GRCm39) |
M561I |
probably benign |
Het |
Zfp708 |
T |
C |
13: 67,218,522 (GRCm39) |
K446E |
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 |
R5530:Tshz1
|
UTSW |
18 |
84,031,393 (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'- TTGACAGGGGAGCTCTTCTC -3'
(R):5'- AGAAGTTTGAGCCCACTGCC -3'
Sequencing Primer
(F):5'- TCCTCCATGGCAGACACATTG -3'
(R):5'- CCTTTATCAGTACCTGCGTGAG -3'
|
Posted On |
2017-01-03 |