Incidental Mutation 'R9573:Tshz1'
| ID |
722150 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84032404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 668
(E668G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060303
AA Change: E668G
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: E668G
| 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: 99.6%
- 20x: 98.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,050,229 (GRCm39) |
V472E |
probably damaging |
Het |
| Ak3 |
T |
C |
19: 29,003,667 (GRCm39) |
I170V |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,791,977 (GRCm39) |
L1058* |
probably null |
Het |
| Ankrd60 |
A |
G |
2: 173,410,791 (GRCm39) |
V243A |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arid3c |
T |
G |
4: 41,726,003 (GRCm39) |
E200A |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,566,591 (GRCm39) |
I856L |
probably benign |
Het |
| Bcs1l |
C |
A |
1: 74,629,492 (GRCm39) |
R177S |
probably damaging |
Het |
| Bin2 |
A |
T |
15: 100,560,433 (GRCm39) |
F43I |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,600,544 (GRCm39) |
L691P |
probably damaging |
Het |
| Bud23 |
C |
T |
5: 135,082,274 (GRCm39) |
V266I |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,629 (GRCm39) |
I333L |
probably benign |
Het |
| Cavin2 |
T |
A |
1: 51,328,795 (GRCm39) |
I84N |
probably damaging |
Het |
| Ccdc168 |
A |
C |
1: 44,095,307 (GRCm39) |
Y1930* |
probably null |
Het |
| Ccdc196 |
A |
T |
12: 78,244,098 (GRCm39) |
N17I |
|
Het |
| Cep170b |
T |
A |
12: 112,691,154 (GRCm39) |
F24I |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,704,302 (GRCm39) |
Y719C |
unknown |
Het |
| Commd7 |
A |
G |
2: 153,463,981 (GRCm39) |
M137T |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,657,910 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
C |
14: 26,414,619 (GRCm39) |
T7P |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,373,094 (GRCm39) |
I548N |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,292,247 (GRCm39) |
L7Q |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,802,662 (GRCm39) |
V477M |
probably damaging |
Het |
| Glis2 |
C |
T |
16: 4,429,505 (GRCm39) |
R211C |
probably damaging |
Het |
| Gm4744 |
A |
T |
6: 40,925,497 (GRCm39) |
V122D |
|
Het |
| Gm4952 |
G |
A |
19: 12,604,090 (GRCm39) |
M167I |
probably benign |
Het |
| Hyal4 |
T |
C |
6: 24,756,508 (GRCm39) |
V242A |
possibly damaging |
Het |
| Ift122 |
T |
G |
6: 115,857,646 (GRCm39) |
S131A |
probably benign |
Het |
| Il4ra |
T |
A |
7: 125,169,158 (GRCm39) |
S137T |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,573,471 (GRCm39) |
L742Q |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,185 (GRCm39) |
K315R |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,979,774 (GRCm39) |
Y1258H |
probably damaging |
Het |
| Mapk9 |
A |
T |
11: 49,769,239 (GRCm39) |
K290N |
probably damaging |
Het |
| Mfhas1 |
C |
T |
8: 36,143,903 (GRCm39) |
H1045Y |
possibly damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,036 (GRCm39) |
Q90K |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,771,841 (GRCm39) |
V157E |
probably benign |
Het |
| Npas4 |
A |
G |
19: 5,035,837 (GRCm39) |
F776L |
probably benign |
Het |
| Nuggc |
A |
C |
14: 65,848,603 (GRCm39) |
D184A |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,066,678 (GRCm39) |
E795G |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,509 (GRCm39) |
I189T |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,940 (GRCm39) |
I98L |
probably benign |
Het |
| Pcbp1 |
A |
T |
6: 86,502,677 (GRCm39) |
M74K |
possibly damaging |
Het |
| Plk4 |
A |
G |
3: 40,763,257 (GRCm39) |
D476G |
probably benign |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Rab44 |
A |
T |
17: 29,364,277 (GRCm39) |
Y617F |
unknown |
Het |
| Rabepk |
T |
C |
2: 34,675,627 (GRCm39) |
R168G |
probably benign |
Het |
| Rbmyf9 |
T |
A |
Y: 3,775,370 (GRCm39) |
M40K |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,000,466 (GRCm39) |
S1307A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,467 (GRCm39) |
V542I |
probably benign |
Het |
| Rtp1 |
A |
G |
16: 23,250,159 (GRCm39) |
I175V |
possibly damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,304,225 (GRCm39) |
I158F |
probably damaging |
Het |
| Slc24a3 |
T |
G |
2: 145,455,548 (GRCm39) |
M479R |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,589 (GRCm39) |
F723S |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,927,134 (GRCm39) |
N93K |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,057,599 (GRCm39) |
Q846R |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,833,140 (GRCm39) |
H247P |
probably benign |
Het |
| Tcstv3 |
T |
C |
13: 120,779,130 (GRCm39) |
S10P |
probably damaging |
Het |
| Tgm7 |
T |
C |
2: 120,934,606 (GRCm39) |
N124S |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,490,933 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,484 (GRCm39) |
G114S |
possibly damaging |
Het |
| Trim38 |
G |
A |
13: 23,966,688 (GRCm39) |
C45Y |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,148,450 (GRCm39) |
M382K |
|
Het |
| Vps39 |
T |
C |
2: 120,155,179 (GRCm39) |
E549G |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,078,014 (GRCm39) |
G1135D |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,548 (GRCm39) |
L388P |
probably benign |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,307 (GRCm39) |
M214K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,602,936 (GRCm39) |
E627K |
possibly damaging |
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 |
|
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 |
|
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'- TGATGATACCCAGATGGCCG -3'
(R):5'- AATACAGCCGTCTTACGCC -3'
Sequencing Primer
(F):5'- GCAGCCATTGGTGACCTTG -3'
(R):5'- CAGCAGCGTGAAGTCACTGTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation