Incidental Mutation 'R5124:Tshz1'
| ID |
393478 |
| 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 |
042712-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84033592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 272
(R272Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: R272Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: R272Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,401,289 (GRCm39) |
I65N |
probably damaging |
Het |
| Adpgk |
A |
G |
9: 59,222,561 (GRCm39) |
D496G |
possibly damaging |
Het |
| Agbl4 |
A |
G |
4: 111,513,525 (GRCm39) |
M424V |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Bpifa3 |
C |
T |
2: 153,980,057 (GRCm39) |
Q230* |
probably null |
Het |
| Cog4 |
G |
T |
8: 111,573,825 (GRCm39) |
R48L |
probably damaging |
Het |
| Cop1 |
A |
G |
1: 159,105,682 (GRCm39) |
Y33C |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,689,665 (GRCm39) |
I454L |
probably benign |
Het |
| Ddr1 |
T |
C |
17: 35,994,489 (GRCm39) |
H762R |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,968,482 (GRCm39) |
S328T |
probably benign |
Het |
| Dppa2 |
G |
T |
16: 48,131,986 (GRCm39) |
V28F |
probably damaging |
Het |
| Dusp15 |
T |
A |
2: 152,793,275 (GRCm39) |
M1L |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,758,301 (GRCm39) |
T1875M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,840,977 (GRCm39) |
S1756P |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,866 (GRCm39) |
Q630L |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,066,512 (GRCm39) |
S625P |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj6 |
G |
T |
16: 94,633,518 (GRCm39) |
P180T |
probably damaging |
Het |
| Lpin3 |
T |
A |
2: 160,738,981 (GRCm39) |
M263K |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,331,834 (GRCm39) |
D1640E |
probably damaging |
Het |
| Lypd2 |
C |
T |
15: 74,604,347 (GRCm39) |
A74T |
probably benign |
Het |
| Map4k1 |
T |
C |
7: 28,688,257 (GRCm39) |
L223P |
probably damaging |
Het |
| Myh7 |
A |
T |
14: 55,223,199 (GRCm39) |
Y715* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,483 (GRCm39) |
S1697P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,171,510 (GRCm39) |
E1661G |
probably damaging |
Het |
| Nek8 |
A |
T |
11: 78,063,765 (GRCm39) |
M80K |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,220,947 (GRCm39) |
L979Q |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,431 (GRCm39) |
V113D |
probably damaging |
Het |
| P4htm |
T |
A |
9: 108,459,141 (GRCm39) |
S264C |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,768 (GRCm39) |
T417A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,406 (GRCm39) |
|
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,893,476 (GRCm39) |
N323I |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,177,274 (GRCm39) |
R222S |
probably damaging |
Het |
| Psmd2 |
C |
A |
16: 20,471,448 (GRCm39) |
R100S |
possibly damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,599 (GRCm39) |
M1963K |
probably damaging |
Het |
| Rbm39 |
C |
T |
2: 156,001,082 (GRCm39) |
G324D |
probably damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,105,731 (GRCm39) |
|
probably null |
Het |
| Rhov |
G |
T |
2: 119,101,568 (GRCm39) |
P13T |
unknown |
Het |
| Sec14l3 |
A |
G |
11: 4,025,209 (GRCm39) |
D273G |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,639 (GRCm39) |
R88* |
probably null |
Het |
| Slco2a1 |
T |
A |
9: 102,927,365 (GRCm39) |
I86N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,812,235 (GRCm39) |
S19T |
probably benign |
Het |
| Stk32a |
T |
C |
18: 43,438,082 (GRCm39) |
S194P |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,424 (GRCm39) |
S175L |
possibly damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,858,045 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,850,115 (GRCm39) |
S375P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,873,636 (GRCm39) |
K73E |
probably damaging |
Het |
| Vmn1r202 |
C |
T |
13: 22,685,920 (GRCm39) |
V166I |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,286 (GRCm39) |
V6A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,107 (GRCm39) |
D111G |
probably damaging |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
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 |
|
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'- TTTGATCATGTGGACACTGAGG -3'
(R):5'- CCAGAAGGAGAGTTCCACAC -3'
Sequencing Primer
(F):5'- ACACTGAGGTCTTGCAAGGACTC -3'
(R):5'- TGCAGCAGACGTCGTCCTAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation