Incidental Mutation 'R9029:Tshz1'
| ID |
686967 |
| 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 |
068858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84031639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 923
(I923N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: I923N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: I923N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
T |
3: 96,591,460 (GRCm39) |
K582M |
probably benign |
Het |
| Catsper3 |
T |
G |
13: 55,954,147 (GRCm39) |
V305G |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
| Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
| Cpne3 |
A |
G |
4: 19,535,292 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Cramp1 |
C |
G |
17: 25,232,884 (GRCm39) |
A39P |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,554,035 (GRCm39) |
V194E |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,402,919 (GRCm39) |
S3208P |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,653,755 (GRCm39) |
Y292C |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,968,412 (GRCm39) |
V227A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,174,716 (GRCm39) |
V290A |
probably damaging |
Het |
| Epb41l4a |
A |
C |
18: 34,012,042 (GRCm39) |
Y159* |
probably null |
Het |
| Gm5460 |
T |
A |
14: 33,739,326 (GRCm39) |
S103T |
|
Het |
| Gsto1 |
A |
T |
19: 47,852,837 (GRCm39) |
Y224F |
probably benign |
Het |
| Hpd |
G |
A |
5: 123,313,973 (GRCm39) |
T271M |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,506,271 (GRCm39) |
I18T |
probably benign |
Het |
| Kif12 |
A |
G |
4: 63,087,704 (GRCm39) |
C260R |
probably damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Luc7l3 |
A |
G |
11: 94,188,676 (GRCm39) |
V201A |
unknown |
Het |
| Mcrip2 |
T |
C |
17: 26,082,989 (GRCm39) |
E146G |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 76,836,741 (GRCm39) |
Y323N |
probably benign |
Het |
| Micu2 |
T |
A |
14: 58,156,363 (GRCm39) |
I370F |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,061,328 (GRCm39) |
V1416E |
probably damaging |
Het |
| Mup3 |
T |
C |
4: 62,003,540 (GRCm39) |
N110D |
probably damaging |
Het |
| Nav3 |
C |
T |
10: 109,699,613 (GRCm39) |
D294N |
possibly damaging |
Het |
| Nphs2 |
G |
A |
1: 156,140,592 (GRCm39) |
A110T |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,563 (GRCm39) |
I78T |
possibly damaging |
Het |
| Or5t7 |
A |
G |
2: 86,506,831 (GRCm39) |
M282T |
probably damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,527,419 (GRCm39) |
|
probably null |
Het |
| Pgrmc2 |
G |
T |
3: 41,037,105 (GRCm39) |
R109S |
probably benign |
Het |
| Plb1 |
G |
A |
5: 32,439,079 (GRCm39) |
V214I |
probably damaging |
Het |
| Ppp2r5d |
C |
T |
17: 46,998,906 (GRCm39) |
S52N |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,859,718 (GRCm39) |
E1082* |
probably null |
Het |
| Skint3 |
A |
G |
4: 112,111,151 (GRCm39) |
E92G |
probably damaging |
Het |
| Slc12a1 |
C |
G |
2: 124,996,004 (GRCm39) |
N52K |
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,738,361 (GRCm39) |
Y458H |
probably damaging |
Het |
| Spsb3 |
C |
T |
17: 25,110,506 (GRCm39) |
P317S |
unknown |
Het |
| Ssc5d |
A |
T |
7: 4,930,919 (GRCm39) |
Q167L |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,328,454 (GRCm39) |
V340A |
probably damaging |
Het |
| Stag3 |
G |
A |
5: 138,296,296 (GRCm39) |
R453H |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,056,239 (GRCm39) |
F371I |
probably benign |
Het |
| Tas2r140 |
A |
C |
6: 133,032,181 (GRCm39) |
S192R |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,840 (GRCm39) |
I166V |
possibly damaging |
Het |
| Tgm3 |
C |
A |
2: 129,871,680 (GRCm39) |
Q269K |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 130,087,426 (GRCm39) |
C1181Y |
probably damaging |
Het |
| Tinag |
A |
T |
9: 76,934,296 (GRCm39) |
|
probably benign |
Het |
| Tnrc6b |
T |
C |
15: 80,763,179 (GRCm39) |
V227A |
possibly damaging |
Het |
| Tox3 |
A |
C |
8: 90,996,864 (GRCm39) |
L133R |
possibly damaging |
Het |
| Vps13c |
T |
A |
9: 67,855,429 (GRCm39) |
V2498D |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 18,994,723 (GRCm39) |
|
probably null |
Het |
| Xylt2 |
T |
C |
11: 94,555,462 (GRCm39) |
D850G |
probably damaging |
Het |
| Zfp229 |
T |
A |
17: 21,964,321 (GRCm39) |
S184T |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
Het |
| Zfp595 |
C |
A |
13: 67,468,989 (GRCm39) |
M12I |
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,403,149 (GRCm39) |
Q533R |
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 |
|
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 |
|
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'- GAACTGAGAGGCACAATCATTAC -3'
(R):5'- AATCTCACAGGTCGTCTGACTC -3'
Sequencing Primer
(F):5'- CTGAGAGGCACAATCATTACAAAAG -3'
(R):5'- ACAGGTCGTCTGACTCCCAAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation