Incidental Mutation 'R4031:Tshz1'
| ID |
313514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshz1
|
| Ensembl Gene |
ENSMUSG00000046982 |
| Gene Name |
teashirt zinc finger family member 1 |
| Synonyms |
Mtsh1, teashirt1, Sdccag33, D18Bwg1409e, Tsh1, NY-CO-33, 5730407I04Rik |
| MMRRC Submission |
040960-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84011627-84086404 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84014829 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 485
(K485E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060303
AA Change: K485E
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: K485E
| 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 |
0.0611 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
95% (52/55) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 86,517,448 (GRCm38) |
F1025L |
probably damaging |
Het |
| Acss2 |
C |
T |
2: 155,557,210 (GRCm38) |
T477I |
probably damaging |
Het |
| Aplp2 |
G |
A |
9: 31,157,730 (GRCm38) |
P601L |
probably benign |
Het |
| Arl2bp |
T |
C |
8: 94,667,653 (GRCm38) |
I32T |
probably damaging |
Het |
| Avpi1 |
C |
A |
19: 42,124,741 (GRCm38) |
|
probably benign |
Het |
| C030005K15Rik |
T |
C |
10: 97,725,542 (GRCm38) |
Y109C |
unknown |
Het |
| Ccdc150 |
T |
A |
1: 54,278,811 (GRCm38) |
M303K |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,998,086 (GRCm38) |
W61R |
probably damaging |
Het |
| Copa |
T |
C |
1: 172,108,375 (GRCm38) |
V428A |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,079,869 (GRCm38) |
Y29H |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,534,637 (GRCm38) |
D89G |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,791,880 (GRCm38) |
I1031T |
probably benign |
Het |
| Elf1 |
A |
C |
14: 79,569,283 (GRCm38) |
K161Q |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,769,752 (GRCm38) |
Y1159* |
probably null |
Het |
| Hspa12a |
T |
C |
19: 58,800,857 (GRCm38) |
N449S |
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,756,224 (GRCm38) |
E147G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 110,610,047 (GRCm38) |
I5152T |
probably benign |
Het |
| Ighv9-1 |
C |
T |
12: 114,094,224 (GRCm38) |
A19T |
probably benign |
Het |
| Kcnt1 |
T |
G |
2: 25,916,048 (GRCm38) |
S1216R |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 916,910 (GRCm38) |
V435E |
probably damaging |
Het |
| Klhl30 |
G |
A |
1: 91,361,157 (GRCm38) |
R546H |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,702,848 (GRCm38) |
G3753D |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,754,022 (GRCm38) |
R854Q |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,381,312 (GRCm38) |
L6303P |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,750,089 (GRCm38) |
S195P |
possibly damaging |
Het |
| Mindy3 |
A |
C |
2: 12,401,083 (GRCm38) |
|
probably null |
Het |
| Neurod1 |
C |
T |
2: 79,454,026 (GRCm38) |
D338N |
probably benign |
Het |
| Polr1e |
A |
T |
4: 45,018,685 (GRCm38) |
E5V |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,348,405 (GRCm38) |
R1141H |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,028,976 (GRCm38) |
S79G |
probably damaging |
Het |
| Psmd2 |
G |
A |
16: 20,663,205 (GRCm38) |
G896D |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 139,050,592 (GRCm38) |
|
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,985,668 (GRCm38) |
|
probably null |
Het |
| Slc26a10 |
A |
G |
10: 127,178,002 (GRCm38) |
V297A |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 21,847,191 (GRCm38) |
K47E |
probably damaging |
Het |
| Slurp1 |
T |
C |
15: 74,727,487 (GRCm38) |
E58G |
probably damaging |
Het |
| Spo11 |
T |
A |
2: 172,986,832 (GRCm38) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,198,344 (GRCm38) |
|
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,451,670 (GRCm38) |
I272T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,754,824 (GRCm38) |
I22042F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,072,759 (GRCm38) |
S671T |
possibly damaging |
Het |
| Usp43 |
G |
T |
11: 67,913,833 (GRCm38) |
A186D |
probably damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,375,221 (GRCm38) |
V679I |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,465,374 (GRCm38) |
A333V |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,768,232 (GRCm38) |
|
probably null |
Het |
| Wdr49 |
C |
A |
3: 75,323,665 (GRCm38) |
L563F |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,951,068 (GRCm38) |
T1141A |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,624,465 (GRCm38) |
E1052V |
probably damaging |
Het |
| Zfp317 |
A |
T |
9: 19,646,712 (GRCm38) |
H163L |
possibly damaging |
Het |
| Zfp975 |
G |
A |
7: 42,662,953 (GRCm38) |
Q79* |
probably null |
Het |
|
| Other mutations in Tshz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Tshz1
|
APN |
18 |
84,013,509 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02934:Tshz1
|
APN |
18 |
84,013,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU18:Tshz1
|
UTSW |
18 |
84,014,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Tshz1
|
UTSW |
18 |
84,013,250 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0052:Tshz1
|
UTSW |
18 |
84,014,945 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0052:Tshz1
|
UTSW |
18 |
84,014,945 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0364:Tshz1
|
UTSW |
18 |
84,016,124 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0391:Tshz1
|
UTSW |
18 |
84,016,049 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0515:Tshz1
|
UTSW |
18 |
84,015,965 (GRCm38) |
missense |
probably benign |
|
|
R0942:Tshz1
|
UTSW |
18 |
84,013,053 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0943:Tshz1
|
UTSW |
18 |
84,015,231 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1472:Tshz1
|
UTSW |
18 |
84,013,805 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1895:Tshz1
|
UTSW |
18 |
84,013,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2022:Tshz1
|
UTSW |
18 |
84,013,862 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2860:Tshz1
|
UTSW |
18 |
84,014,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2861:Tshz1
|
UTSW |
18 |
84,014,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4027:Tshz1
|
UTSW |
18 |
84,014,829 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4028:Tshz1
|
UTSW |
18 |
84,014,829 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4030:Tshz1
|
UTSW |
18 |
84,014,829 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4119:Tshz1
|
UTSW |
18 |
84,014,189 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4233:Tshz1
|
UTSW |
18 |
84,016,195 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4573:Tshz1
|
UTSW |
18 |
84,015,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Tshz1
|
UTSW |
18 |
84,013,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4960:Tshz1
|
UTSW |
18 |
84,014,862 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5085:Tshz1
|
UTSW |
18 |
84,013,928 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5124:Tshz1
|
UTSW |
18 |
84,015,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5150:Tshz1
|
UTSW |
18 |
84,013,215 (GRCm38) |
nonsense |
probably null |
|
|
R5357:Tshz1
|
UTSW |
18 |
84,015,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5530:Tshz1
|
UTSW |
18 |
84,013,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5718:Tshz1
|
UTSW |
18 |
84,014,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5750:Tshz1
|
UTSW |
18 |
84,013,961 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5778:Tshz1
|
UTSW |
18 |
84,015,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6052:Tshz1
|
UTSW |
18 |
84,014,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6279:Tshz1
|
UTSW |
18 |
84,015,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6393:Tshz1
|
UTSW |
18 |
84,013,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6407:Tshz1
|
UTSW |
18 |
84,015,966 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6425:Tshz1
|
UTSW |
18 |
84,015,563 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6998:Tshz1
|
UTSW |
18 |
84,015,841 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7165:Tshz1
|
UTSW |
18 |
84,015,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7233:Tshz1
|
UTSW |
18 |
84,014,819 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7330:Tshz1
|
UTSW |
18 |
84,014,831 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7491:Tshz1
|
UTSW |
18 |
84,015,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7579:Tshz1
|
UTSW |
18 |
84,014,665 (GRCm38) |
nonsense |
probably null |
|
|
R7592:Tshz1
|
UTSW |
18 |
84,014,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7659:Tshz1
|
UTSW |
18 |
84,016,075 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7702:Tshz1
|
UTSW |
18 |
84,014,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7844:Tshz1
|
UTSW |
18 |
84,014,171 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7908:Tshz1
|
UTSW |
18 |
84,014,607 (GRCm38) |
nonsense |
probably null |
|
|
R7941:Tshz1
|
UTSW |
18 |
84,015,392 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7947:Tshz1
|
UTSW |
18 |
84,015,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8435:Tshz1
|
UTSW |
18 |
84,014,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8750:Tshz1
|
UTSW |
18 |
84,015,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8774:Tshz1
|
UTSW |
18 |
84,014,976 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8774-TAIL:Tshz1
|
UTSW |
18 |
84,014,976 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9029:Tshz1
|
UTSW |
18 |
84,013,514 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9031:Tshz1
|
UTSW |
18 |
84,014,862 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9573:Tshz1
|
UTSW |
18 |
84,014,279 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9584:Tshz1
|
UTSW |
18 |
84,014,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9596:Tshz1
|
UTSW |
18 |
84,013,779 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9701:Tshz1
|
UTSW |
18 |
84,014,454 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATATCTACTCCTCCCTTGG -3'
(R):5'- CCATGATACCTTGCAGCAGC -3'
Sequencing Primer
(F):5'- AGGTCTTCCTCACGCAGGTAC -3'
(R):5'- TTGCAGCAGCTCACAGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation