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 |
Mtsh1, teashirt1, Sdccag33, D18Bwg1409e, Tsh1, NY-CO-33, 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 |
84011627-84086404 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84014524 bp (GRCm38)
|
| 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: 27,113,486 (GRCm38) |
|
probably null |
Het |
| Ahctf1 |
G |
T |
1: 179,769,339 (GRCm38) |
H81N |
possibly damaging |
Het |
| Alyref2 |
T |
C |
1: 171,504,110 (GRCm38) |
S152P |
possibly damaging |
Het |
| Arhgef7 |
C |
T |
8: 11,785,774 (GRCm38) |
T20I |
probably damaging |
Het |
| Armc3 |
T |
G |
2: 19,303,799 (GRCm38) |
Y759* |
probably null |
Het |
| Atg5 |
A |
G |
10: 44,362,987 (GRCm38) |
S255G |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,837,516 (GRCm38) |
I1026V |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,279,442 (GRCm38) |
K770N |
probably damaging |
Het |
| Bptf |
G |
T |
11: 107,111,434 (GRCm38) |
A284E |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,393,358 (GRCm38) |
S815P |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,998,105 (GRCm38) |
H67R |
probably benign |
Het |
| Cic |
A |
G |
7: 25,272,778 (GRCm38) |
I645V |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,299,964 (GRCm38) |
Q48L |
probably benign |
Het |
| Crhr2 |
G |
A |
6: 55,092,100 (GRCm38) |
Q397* |
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 58,018,225 (GRCm38) |
V48I |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,755,748 (GRCm38) |
R2529H |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,748,666 (GRCm38) |
H3293L |
possibly damaging |
Het |
| Dock6 |
G |
T |
9: 21,824,493 (GRCm38) |
D986E |
probably benign |
Het |
| Efcab6 |
T |
A |
15: 83,904,238 (GRCm38) |
N952Y |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 19,201,163 (GRCm38) |
V432I |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 77,986,403 (GRCm38) |
C1327Y |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,691,568 (GRCm38) |
E241G |
probably benign |
Het |
| Fsd1 |
T |
G |
17: 55,990,542 (GRCm38) |
|
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 70,034,270 (GRCm38) |
S339P |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,110,772 (GRCm38) |
K829* |
probably null |
Het |
| Gli3 |
G |
A |
13: 15,478,165 (GRCm38) |
|
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm38) |
E1341K |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,609,666 (GRCm38) |
I4395N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,690,600 (GRCm38) |
C2217* |
probably null |
Het |
| Hmgxb3 |
A |
G |
18: 61,140,837 (GRCm38) |
M861T |
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,255,277 (GRCm38) |
S1545P |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 71,684,354 (GRCm38) |
L725M |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,468,615 (GRCm38) |
C90* |
probably null |
Het |
| Mcm7 |
C |
T |
5: 138,164,819 (GRCm38) |
R357H |
possibly damaging |
Het |
| Mcoln2 |
T |
C |
3: 146,181,826 (GRCm38) |
S333P |
probably damaging |
Het |
| Mrpl22 |
A |
T |
11: 58,177,283 (GRCm38) |
I136L |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,589,814 (GRCm38) |
|
probably null |
Het |
| Ncdn |
G |
A |
4: 126,749,950 (GRCm38) |
Q360* |
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,623,284 (GRCm38) |
K338E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,036,808 (GRCm38) |
T6105A |
probably damaging |
Het |
| Olfr171 |
G |
A |
16: 19,624,389 (GRCm38) |
S237F |
probably benign |
Het |
| Olfr957 |
A |
T |
9: 39,511,042 (GRCm38) |
L226H |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,567,194 (GRCm38) |
F638I |
possibly damaging |
Het |
| Pfn3 |
T |
C |
13: 55,415,040 (GRCm38) |
I43V |
probably benign |
Het |
| Pigm |
C |
A |
1: 172,377,445 (GRCm38) |
|
probably null |
Het |
| Pkhd1l1 |
T |
A |
15: 44,545,417 (GRCm38) |
S2433R |
probably damaging |
Het |
| Pomt1 |
C |
A |
2: 32,248,692 (GRCm38) |
A440D |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,458,269 (GRCm38) |
D691G |
probably benign |
Het |
| Qrich1 |
T |
A |
9: 108,528,823 (GRCm38) |
S72T |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,453,406 (GRCm38) |
|
probably null |
Het |
| Rarg |
A |
C |
15: 102,241,067 (GRCm38) |
S156A |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,847,144 (GRCm38) |
K133R |
probably benign |
Het |
| Rcor1 |
A |
G |
12: 111,101,635 (GRCm38) |
D158G |
probably benign |
Het |
| Rpn2 |
C |
T |
2: 157,321,827 (GRCm38) |
T613M |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 125,491,248 (GRCm38) |
H450L |
probably damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,718,156 (GRCm38) |
I263V |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 39,097,562 (GRCm38) |
V242E |
probably benign |
Het |
| Slc5a5 |
T |
A |
8: 70,887,755 (GRCm38) |
T484S |
probably benign |
Het |
| Tdrd3 |
T |
C |
14: 87,506,440 (GRCm38) |
V608A |
probably benign |
Het |
| Thnsl1 |
C |
A |
2: 21,212,000 (GRCm38) |
H188Q |
possibly damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,192,144 (GRCm38) |
A676T |
possibly damaging |
Het |
| Wasf1 |
G |
A |
10: 40,926,574 (GRCm38) |
R75Q |
probably damaging |
Het |
| Xbp1 |
T |
A |
11: 5,521,903 (GRCm38) |
F10I |
probably benign |
Het |
| Zbtb1 |
G |
A |
12: 76,386,924 (GRCm38) |
M561I |
probably benign |
Het |
| Zfp708 |
T |
C |
13: 67,070,458 (GRCm38) |
K446E |
probably benign |
Het |
|
| Other mutations in Tshz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Tshz1
|
APN |
18 |
84,013,509 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02934:Tshz1
|
APN |
18 |
84,013,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU18:Tshz1
|
UTSW |
18 |
84,014,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Tshz1
|
UTSW |
18 |
84,013,250 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0052:Tshz1
|
UTSW |
18 |
84,014,945 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0052:Tshz1
|
UTSW |
18 |
84,014,945 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0364:Tshz1
|
UTSW |
18 |
84,016,124 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0391:Tshz1
|
UTSW |
18 |
84,016,049 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0515:Tshz1
|
UTSW |
18 |
84,015,965 (GRCm38) |
missense |
probably benign |
|
|
R0942:Tshz1
|
UTSW |
18 |
84,013,053 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0943:Tshz1
|
UTSW |
18 |
84,015,231 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1472:Tshz1
|
UTSW |
18 |
84,013,805 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1895:Tshz1
|
UTSW |
18 |
84,013,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2022:Tshz1
|
UTSW |
18 |
84,013,862 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2860:Tshz1
|
UTSW |
18 |
84,014,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2861:Tshz1
|
UTSW |
18 |
84,014,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4027:Tshz1
|
UTSW |
18 |
84,014,829 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4028:Tshz1
|
UTSW |
18 |
84,014,829 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4030:Tshz1
|
UTSW |
18 |
84,014,829 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4031:Tshz1
|
UTSW |
18 |
84,014,829 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4119:Tshz1
|
UTSW |
18 |
84,014,189 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4233:Tshz1
|
UTSW |
18 |
84,016,195 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4573:Tshz1
|
UTSW |
18 |
84,015,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Tshz1
|
UTSW |
18 |
84,013,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4960:Tshz1
|
UTSW |
18 |
84,014,862 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5085:Tshz1
|
UTSW |
18 |
84,013,928 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5124:Tshz1
|
UTSW |
18 |
84,015,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5150:Tshz1
|
UTSW |
18 |
84,013,215 (GRCm38) |
nonsense |
probably null |
|
|
R5357:Tshz1
|
UTSW |
18 |
84,015,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5530:Tshz1
|
UTSW |
18 |
84,013,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5750:Tshz1
|
UTSW |
18 |
84,013,961 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5778:Tshz1
|
UTSW |
18 |
84,015,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6052:Tshz1
|
UTSW |
18 |
84,014,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6279:Tshz1
|
UTSW |
18 |
84,015,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6393:Tshz1
|
UTSW |
18 |
84,013,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6407:Tshz1
|
UTSW |
18 |
84,015,966 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6425:Tshz1
|
UTSW |
18 |
84,015,563 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6998:Tshz1
|
UTSW |
18 |
84,015,841 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7165:Tshz1
|
UTSW |
18 |
84,015,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7233:Tshz1
|
UTSW |
18 |
84,014,819 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7330:Tshz1
|
UTSW |
18 |
84,014,831 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7491:Tshz1
|
UTSW |
18 |
84,015,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7579:Tshz1
|
UTSW |
18 |
84,014,665 (GRCm38) |
nonsense |
probably null |
|
|
R7592:Tshz1
|
UTSW |
18 |
84,014,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7659:Tshz1
|
UTSW |
18 |
84,016,075 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7702:Tshz1
|
UTSW |
18 |
84,014,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7844:Tshz1
|
UTSW |
18 |
84,014,171 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7908:Tshz1
|
UTSW |
18 |
84,014,607 (GRCm38) |
nonsense |
probably null |
|
|
R7941:Tshz1
|
UTSW |
18 |
84,015,392 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7947:Tshz1
|
UTSW |
18 |
84,015,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8435:Tshz1
|
UTSW |
18 |
84,014,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8750:Tshz1
|
UTSW |
18 |
84,015,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8774:Tshz1
|
UTSW |
18 |
84,014,976 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8774-TAIL:Tshz1
|
UTSW |
18 |
84,014,976 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9029:Tshz1
|
UTSW |
18 |
84,013,514 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9031:Tshz1
|
UTSW |
18 |
84,014,862 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9573:Tshz1
|
UTSW |
18 |
84,014,279 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9584:Tshz1
|
UTSW |
18 |
84,014,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9596:Tshz1
|
UTSW |
18 |
84,013,779 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9701:Tshz1
|
UTSW |
18 |
84,014,454 (GRCm38) |
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 |
Incidental Mutation