Incidental Mutation 'R6052:Tshz1'
ID |
484199 |
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 |
044220-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6052 (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 G
at 84032194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 738
(I738T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
AlphaFold |
Q5DTH5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: I738T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089388 Gene: ENSMUSG00000046982 AA Change: I738T
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 |
|
Meta Mutation Damage Score |
0.1263 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
96% (80/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,537,165 (GRCm39) |
F473L |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,401,691 (GRCm39) |
I1449V |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,293,477 (GRCm39) |
L943* |
probably null |
Het |
Arap1 |
G |
A |
7: 101,053,240 (GRCm39) |
V1257M |
probably damaging |
Het |
B3gnt9 |
T |
C |
8: 105,981,230 (GRCm39) |
S53G |
probably benign |
Het |
Baiap3 |
A |
T |
17: 25,467,444 (GRCm39) |
|
probably benign |
Het |
Canx |
T |
C |
11: 50,187,946 (GRCm39) |
D554G |
possibly damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,352,501 (GRCm39) |
V165A |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,457,145 (GRCm39) |
|
probably null |
Het |
Cdcp1 |
A |
G |
9: 123,014,396 (GRCm39) |
I126T |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,800 (GRCm39) |
D1036E |
probably damaging |
Het |
Cfap157 |
A |
G |
2: 32,669,863 (GRCm39) |
L240P |
probably damaging |
Het |
Clec18a |
C |
A |
8: 111,805,448 (GRCm39) |
E218* |
probably null |
Het |
Col3a1 |
T |
C |
1: 45,384,173 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,794,227 (GRCm39) |
E682G |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,494,052 (GRCm39) |
V1736A |
possibly damaging |
Het |
Dpep2 |
T |
A |
8: 106,717,270 (GRCm39) |
D162V |
possibly damaging |
Het |
Drd3 |
C |
A |
16: 43,641,646 (GRCm39) |
P321T |
probably benign |
Het |
Egfr |
A |
G |
11: 16,861,554 (GRCm39) |
H1111R |
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,708,928 (GRCm39) |
S58P |
probably damaging |
Het |
Epha3 |
C |
A |
16: 63,423,967 (GRCm39) |
V541L |
possibly damaging |
Het |
Eri3 |
T |
A |
4: 117,421,825 (GRCm39) |
D34E |
probably damaging |
Het |
Eya1 |
T |
C |
1: 14,353,374 (GRCm39) |
D58G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,833,975 (GRCm39) |
S26C |
probably null |
Het |
Fgl1 |
T |
C |
8: 41,653,548 (GRCm39) |
D115G |
probably damaging |
Het |
Fitm2 |
T |
C |
2: 163,312,036 (GRCm39) |
Y59C |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,912,725 (GRCm39) |
I3343N |
probably damaging |
Het |
Gba2 |
C |
A |
4: 43,568,330 (GRCm39) |
C679F |
probably damaging |
Het |
Glis2 |
G |
A |
16: 4,431,603 (GRCm39) |
|
probably benign |
Het |
Gm5150 |
T |
A |
3: 16,044,917 (GRCm39) |
I103F |
probably damaging |
Het |
Hhipl2 |
T |
C |
1: 183,204,965 (GRCm39) |
S313P |
possibly damaging |
Het |
Hmgcs1 |
A |
G |
13: 120,166,995 (GRCm39) |
D474G |
probably benign |
Het |
Homer3 |
C |
T |
8: 70,744,076 (GRCm39) |
Q267* |
probably null |
Het |
Hsd17b8 |
A |
G |
17: 34,246,429 (GRCm39) |
L118P |
probably damaging |
Het |
Igkv8-28 |
C |
T |
6: 70,120,673 (GRCm39) |
G90D |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,181,255 (GRCm39) |
I128F |
probably damaging |
Het |
Krt4 |
A |
G |
15: 101,831,194 (GRCm39) |
|
probably null |
Het |
Lamb2 |
T |
A |
9: 108,364,811 (GRCm39) |
C1188* |
probably null |
Het |
Lsr |
A |
T |
7: 30,658,042 (GRCm39) |
M355K |
probably damaging |
Het |
Map3k11 |
T |
G |
19: 5,747,430 (GRCm39) |
D555E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,087,082 (GRCm39) |
Y282H |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,261,176 (GRCm39) |
I7M |
probably benign |
Het |
Nprl3 |
G |
T |
11: 32,205,453 (GRCm39) |
H102N |
possibly damaging |
Het |
Nup62 |
T |
A |
7: 44,478,464 (GRCm39) |
F160I |
possibly damaging |
Het |
Or10w1 |
C |
A |
19: 13,631,871 (GRCm39) |
P26Q |
possibly damaging |
Het |
Or2d3c |
A |
T |
7: 106,525,896 (GRCm39) |
F257I |
probably benign |
Het |
Or2r2 |
T |
A |
6: 42,463,588 (GRCm39) |
T180S |
possibly damaging |
Het |
Or5p76 |
A |
G |
7: 108,122,945 (GRCm39) |
S71P |
probably benign |
Het |
Or6c35 |
C |
A |
10: 129,169,071 (GRCm39) |
T107K |
possibly damaging |
Het |
Osbpl10 |
T |
C |
9: 114,896,383 (GRCm39) |
|
probably null |
Het |
Pcdh9 |
C |
T |
14: 94,123,282 (GRCm39) |
V963I |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,909,044 (GRCm39) |
R375G |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,233,008 (GRCm39) |
T108M |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,779,635 (GRCm39) |
Q269L |
probably benign |
Het |
Pomgnt1 |
T |
A |
4: 116,008,799 (GRCm39) |
N11K |
possibly damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,222 (GRCm39) |
D158V |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,413,083 (GRCm39) |
|
probably null |
Het |
Prpf40a |
T |
C |
2: 53,049,293 (GRCm39) |
T190A |
probably benign |
Het |
Prrc2b |
A |
C |
2: 32,102,297 (GRCm39) |
H790P |
possibly damaging |
Het |
Rest |
T |
G |
5: 77,429,027 (GRCm39) |
V482G |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,039,999 (GRCm39) |
I322L |
probably benign |
Het |
Rpl18 |
G |
A |
7: 45,369,554 (GRCm39) |
|
probably benign |
Het |
Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
Sbf2 |
A |
G |
7: 110,040,741 (GRCm39) |
L362S |
probably damaging |
Het |
Sgsm3 |
A |
G |
15: 80,893,464 (GRCm39) |
T409A |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,890,430 (GRCm39) |
T292A |
possibly damaging |
Het |
Spg11 |
T |
G |
2: 121,927,837 (GRCm39) |
K649T |
probably damaging |
Het |
Srprb |
T |
A |
9: 103,067,415 (GRCm39) |
I268F |
possibly damaging |
Het |
Tap2 |
G |
A |
17: 34,433,683 (GRCm39) |
G566S |
probably damaging |
Het |
Tecpr2 |
T |
C |
12: 110,885,325 (GRCm39) |
V168A |
possibly damaging |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,330,890 (GRCm39) |
L50H |
probably damaging |
Het |
Tspan12 |
T |
C |
6: 21,772,637 (GRCm39) |
E304G |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,559,271 (GRCm39) |
G1671S |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,782 (GRCm39) |
S600G |
possibly damaging |
Het |
Wnt3 |
C |
A |
11: 103,699,000 (GRCm39) |
Y35* |
probably null |
Het |
Xpo7 |
T |
C |
14: 70,921,159 (GRCm39) |
Y603C |
possibly damaging |
Het |
Zfp457 |
G |
A |
13: 67,442,015 (GRCm39) |
H91Y |
probably damaging |
Het |
Zfp664 |
T |
A |
5: 124,963,250 (GRCm39) |
C215S |
unknown |
Het |
Zfp882 |
G |
A |
8: 72,668,349 (GRCm39) |
G392D |
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 |
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'- TAGTAGCGGTCGATTGCATC -3'
(R):5'- CCATCTCTCCTGTGGCAAAG -3'
Sequencing Primer
(F):5'- CGATTGCATCAGCCTGCTTGG -3'
(R):5'- CTCTCCTGTGGCAAAGGAGAATAAAG -3'
|
Posted On |
2017-07-14 |