Incidental Mutation 'R4573:Tshz1'
| ID |
342305 |
| 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 |
041598-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4573 (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 84033207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 400
(N400K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: N400K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: N400K
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,253,293 (GRCm39) |
E212G |
probably damaging |
Het |
| Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
| Akr1b10 |
T |
C |
6: 34,369,064 (GRCm39) |
V153A |
probably damaging |
Het |
| Ap1m2 |
T |
C |
9: 21,217,054 (GRCm39) |
Y94C |
probably damaging |
Het |
| Arhgef33 |
T |
C |
17: 80,672,711 (GRCm39) |
S320P |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,408,108 (GRCm39) |
S87P |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,622,190 (GRCm39) |
Y458C |
probably damaging |
Het |
| Aspm |
G |
T |
1: 139,407,245 (GRCm39) |
W2044L |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,004,663 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
C |
1: 172,106,204 (GRCm39) |
I869M |
possibly damaging |
Het |
| Bpifb2 |
C |
T |
2: 153,731,412 (GRCm39) |
L263F |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,202 (GRCm39) |
|
probably null |
Het |
| Carf |
G |
T |
1: 60,187,271 (GRCm39) |
A590S |
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,967,245 (GRCm39) |
D658E |
probably damaging |
Het |
| Cd1d2 |
A |
G |
3: 86,894,861 (GRCm39) |
I78V |
probably benign |
Het |
| Cdc42bpb |
A |
T |
12: 111,289,575 (GRCm39) |
M418K |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,118,152 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,354,712 (GRCm39) |
K932R |
probably benign |
Het |
| Ces1d |
A |
C |
8: 93,908,162 (GRCm39) |
N310K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,935,960 (GRCm39) |
K240R |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,848,061 (GRCm39) |
E193G |
probably benign |
Het |
| Dhrs9 |
C |
A |
2: 69,227,985 (GRCm39) |
H200N |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,919,380 (GRCm39) |
S1118P |
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,492,882 (GRCm39) |
Y705C |
possibly damaging |
Het |
| Elmod1 |
T |
C |
9: 53,833,256 (GRCm39) |
N183S |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,498,129 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,816,510 (GRCm39) |
Y4081F |
possibly damaging |
Het |
| Gsr |
A |
G |
8: 34,183,881 (GRCm39) |
D381G |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,229 (GRCm39) |
L253S |
possibly damaging |
Het |
| Herc3 |
C |
A |
6: 58,871,098 (GRCm39) |
T69K |
possibly damaging |
Het |
| Hoxb13 |
A |
G |
11: 96,085,777 (GRCm39) |
Y170C |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,964 (GRCm39) |
M161V |
probably benign |
Het |
| Lrp6 |
G |
A |
6: 134,447,693 (GRCm39) |
R985* |
probably null |
Het |
| Marchf5 |
T |
A |
19: 37,197,793 (GRCm39) |
I154K |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,715,835 (GRCm39) |
|
probably null |
Het |
| Mrpl2 |
G |
T |
17: 46,959,967 (GRCm39) |
C212F |
possibly damaging |
Het |
| Mterf1a |
G |
A |
5: 3,941,119 (GRCm39) |
R250W |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,340,912 (GRCm39) |
|
probably null |
Het |
| Mul1 |
T |
C |
4: 138,163,660 (GRCm39) |
F19L |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,583,733 (GRCm39) |
A74E |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,108,579 (GRCm39) |
|
probably null |
Het |
| Ncor2 |
A |
T |
5: 125,132,889 (GRCm39) |
S33T |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,579,517 (GRCm39) |
V412A |
possibly damaging |
Het |
| Ninj1 |
A |
G |
13: 49,348,463 (GRCm39) |
N191S |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,330,770 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,491 (GRCm39) |
M81K |
probably damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,202 (GRCm39) |
I219M |
probably damaging |
Het |
| Osbpl5 |
C |
A |
7: 143,248,053 (GRCm39) |
V671L |
probably benign |
Het |
| Paics |
T |
C |
5: 77,104,450 (GRCm39) |
L25S |
probably benign |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,591 (GRCm39) |
E20G |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,102,966 (GRCm39) |
Q228* |
probably null |
Het |
| Pnpla7 |
T |
C |
2: 24,940,885 (GRCm39) |
V1079A |
probably damaging |
Het |
| Pou2f1 |
G |
A |
1: 165,740,830 (GRCm39) |
T113I |
probably benign |
Het |
| Ppp1r14c |
A |
G |
10: 3,413,416 (GRCm39) |
I150V |
possibly damaging |
Het |
| Ppp1r2 |
A |
G |
16: 31,079,455 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Ptchd4 |
T |
C |
17: 42,813,668 (GRCm39) |
V523A |
probably benign |
Het |
| Rabep1 |
G |
C |
11: 70,808,577 (GRCm39) |
S468T |
probably damaging |
Het |
| Rgs6 |
T |
A |
12: 83,112,789 (GRCm39) |
W200R |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,585,519 (GRCm39) |
|
probably null |
Het |
| Scamp2 |
A |
T |
9: 57,484,477 (GRCm39) |
D20V |
probably damaging |
Het |
| Sec24d |
G |
A |
3: 123,152,519 (GRCm39) |
V844M |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,028,151 (GRCm39) |
N57Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,570 (GRCm39) |
K931E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,463,934 (GRCm39) |
T258A |
probably benign |
Het |
| Slc15a1 |
A |
G |
14: 121,724,441 (GRCm39) |
S144P |
probably damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,135,253 (GRCm39) |
V425E |
probably benign |
Het |
| Syt7 |
C |
T |
19: 10,416,576 (GRCm39) |
R253* |
probably null |
Het |
| Tm4sf1 |
A |
T |
3: 57,202,206 (GRCm39) |
C2S |
possibly damaging |
Het |
| Trio |
CCTTCTTCTTCT |
CCTTCTTCT |
15: 27,773,084 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
C |
T |
19: 22,879,506 (GRCm39) |
H594Y |
probably damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,441 (GRCm39) |
M300K |
probably benign |
Het |
| Vmn1r70 |
C |
A |
7: 10,367,556 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,339 (GRCm39) |
D410N |
probably damaging |
Het |
| Yap1 |
T |
C |
9: 7,934,682 (GRCm39) |
D428G |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,587,127 (GRCm39) |
I70T |
probably benign |
Het |
| Zfp157 |
A |
G |
5: 138,455,191 (GRCm39) |
Y463C |
probably 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 |
|
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 |
|
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'- GATGGACTGGATCTTCTCCTCC -3'
(R):5'- GAAAGTGCCTCTGAAGGAGC -3'
Sequencing Primer
(F):5'- TTCTCCTCCACCACGGGG -3'
(R):5'- TCTGAAGGAGCCCGTGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation