Incidental Mutation 'R7947:Tshz1'
ID |
649439 |
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 |
045992-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7947 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 84033782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 209
(Q209K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
AlphaFold |
Q5DTH5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: Q209K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089388 Gene: ENSMUSG00000046982 AA Change: Q209K
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (60/61) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
A |
G |
16: 88,555,938 (GRCm39) |
T51A |
probably benign |
Het |
Abcc8 |
A |
G |
7: 45,754,886 (GRCm39) |
|
probably null |
Het |
Accs |
A |
T |
2: 93,674,602 (GRCm39) |
M123K |
probably damaging |
Het |
Ace |
G |
A |
11: 105,863,880 (GRCm39) |
G443S |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Arhgap25 |
T |
C |
6: 87,440,069 (GRCm39) |
D526G |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,482,775 (GRCm39) |
L160P |
probably damaging |
Het |
Arnt |
T |
G |
3: 95,381,837 (GRCm39) |
|
probably null |
Het |
Art3 |
A |
G |
5: 92,540,359 (GRCm39) |
N34S |
possibly damaging |
Het |
Avl9 |
A |
T |
6: 56,700,526 (GRCm39) |
E53D |
possibly damaging |
Het |
AW209491 |
A |
T |
13: 14,811,447 (GRCm39) |
E100V |
probably benign |
Het |
Axin2 |
T |
C |
11: 108,814,529 (GRCm39) |
I139T |
probably damaging |
Het |
Birc7 |
G |
T |
2: 180,575,103 (GRCm39) |
V280L |
probably damaging |
Het |
Bmal1 |
T |
C |
7: 112,886,353 (GRCm39) |
Y137H |
probably damaging |
Het |
C1ra |
A |
G |
6: 124,494,338 (GRCm39) |
N262D |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,348,001 (GRCm39) |
F696L |
probably benign |
Het |
Casp14 |
T |
A |
10: 78,550,079 (GRCm39) |
|
probably null |
Het |
Ciao2a |
A |
G |
9: 66,045,684 (GRCm39) |
I151V |
probably benign |
Het |
Crlf1 |
T |
C |
8: 70,951,862 (GRCm39) |
Y176H |
probably damaging |
Het |
Dnajb4 |
A |
T |
3: 151,892,468 (GRCm39) |
S122T |
probably benign |
Het |
Dthd1 |
G |
A |
5: 62,971,653 (GRCm39) |
D159N |
possibly damaging |
Het |
Erich6 |
A |
T |
3: 58,528,699 (GRCm39) |
I517N |
possibly damaging |
Het |
Fam118b |
T |
A |
9: 35,129,239 (GRCm39) |
H343L |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,178,560 (GRCm39) |
D1500V |
probably damaging |
Het |
Fcgbp |
T |
C |
7: 27,803,595 (GRCm39) |
|
probably null |
Het |
Fgfrl1 |
A |
G |
5: 108,853,142 (GRCm39) |
D255G |
probably damaging |
Het |
Gm9611 |
G |
A |
14: 42,118,087 (GRCm39) |
Q82* |
probably null |
Het |
Ifit3 |
G |
T |
19: 34,565,359 (GRCm39) |
E302* |
probably null |
Het |
Igkv3-9 |
G |
A |
6: 70,565,737 (GRCm39) |
C112Y |
probably damaging |
Het |
Ints4 |
A |
G |
7: 97,148,792 (GRCm39) |
T233A |
probably benign |
Het |
Khnyn |
A |
T |
14: 56,125,059 (GRCm39) |
S438C |
probably damaging |
Het |
Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,919,951 (GRCm39) |
S98P |
unknown |
Het |
Krt1c |
A |
T |
15: 101,724,769 (GRCm39) |
D280E |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Macf1 |
T |
C |
4: 123,295,200 (GRCm39) |
I5344V |
probably damaging |
Het |
Mcf2l |
A |
T |
8: 13,053,529 (GRCm39) |
|
probably null |
Het |
Mms22l |
A |
C |
4: 24,505,373 (GRCm39) |
H211P |
probably damaging |
Het |
Nipsnap1 |
A |
G |
11: 4,839,145 (GRCm39) |
R163G |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,477,616 (GRCm39) |
N375S |
possibly damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,278 (GRCm39) |
Y202C |
probably damaging |
Het |
Or52e19b |
A |
T |
7: 103,032,735 (GRCm39) |
V158D |
possibly damaging |
Het |
Or8g17 |
A |
G |
9: 38,930,747 (GRCm39) |
L30P |
probably damaging |
Het |
Phf14 |
G |
A |
6: 11,933,306 (GRCm39) |
G56D |
unknown |
Het |
Phykpl |
G |
A |
11: 51,477,408 (GRCm39) |
V67M |
probably damaging |
Het |
Pigk |
A |
G |
3: 152,453,404 (GRCm39) |
D374G |
probably benign |
Het |
Pirb |
A |
G |
7: 3,722,857 (GRCm39) |
V45A |
probably damaging |
Het |
Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
T |
C |
1: 6,318,786 (GRCm39) |
V735A |
probably damaging |
Het |
Rcor2 |
A |
G |
19: 7,251,225 (GRCm39) |
T333A |
possibly damaging |
Het |
Ret |
A |
G |
6: 118,151,305 (GRCm39) |
V593A |
probably benign |
Het |
Scgb1b10 |
A |
T |
7: 31,800,570 (GRCm39) |
D53V |
probably damaging |
Het |
Sec61a2 |
G |
A |
2: 5,881,794 (GRCm39) |
A212V |
probably damaging |
Het |
Sgpl1 |
A |
T |
10: 60,942,121 (GRCm39) |
F245I |
probably damaging |
Het |
Sh2d4b |
A |
C |
14: 40,542,723 (GRCm39) |
V351G |
probably damaging |
Het |
Shld2 |
C |
T |
14: 33,990,436 (GRCm39) |
V157I |
probably benign |
Het |
Slc22a1 |
T |
A |
17: 12,871,310 (GRCm39) |
M484L |
probably benign |
Het |
Slit1 |
C |
G |
19: 41,599,247 (GRCm39) |
G1066R |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,599,248 (GRCm39) |
D1065E |
probably benign |
Het |
Spg11 |
G |
A |
2: 121,922,803 (GRCm39) |
A882V |
probably damaging |
Het |
Stab2 |
A |
C |
10: 86,681,897 (GRCm39) |
F2501L |
probably benign |
Het |
Stim2 |
A |
T |
5: 54,275,671 (GRCm39) |
K607N |
probably damaging |
Het |
Syde1 |
C |
T |
10: 78,425,916 (GRCm39) |
V84M |
probably damaging |
Het |
Tepsin |
A |
T |
11: 119,985,061 (GRCm39) |
N202K |
probably benign |
Het |
Tmem207 |
T |
A |
16: 26,335,495 (GRCm39) |
I81F |
possibly damaging |
Het |
Tnc |
C |
A |
4: 63,935,580 (GRCm39) |
G452V |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,773,696 (GRCm39) |
N2308K |
unknown |
Het |
Zfp266 |
A |
G |
9: 20,410,548 (GRCm39) |
I543T |
probably benign |
Het |
Zfp777 |
G |
T |
6: 48,001,645 (GRCm39) |
P815Q |
probably damaging |
Het |
Zhx3 |
A |
G |
2: 160,623,015 (GRCm39) |
I384T |
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 |
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 |
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'- ATAGTGGCCTGTCTCGTTCATG -3'
(R):5'- AGTCCAATTCTGCCACCAG -3'
Sequencing Primer
(F):5'- CGTTCATGTGCACCGTCAG -3'
(R):5'- CCAGCCAGAAGGAGAGTTCC -3'
|
Posted On |
2020-09-15 |