Incidental Mutation 'R7908:Tshz1'
| ID |
610322 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7908 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84011627-84086404 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 84014607 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 559
(K559*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060303
AA Change: K559*
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: K559*
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008L16Rik |
A |
T |
12: 55,379,465 (GRCm38) |
K533N |
possibly damaging |
Het |
| 1110032A03Rik |
T |
A |
9: 50,763,948 (GRCm38) |
T153S |
possibly damaging |
Het |
| 9530053A07Rik |
A |
T |
7: 28,147,496 (GRCm38) |
Y1168F |
probably benign |
Het |
| A4galt |
A |
G |
15: 83,228,376 (GRCm38) |
F69L |
probably benign |
Het |
| Acsf3 |
A |
G |
8: 122,785,823 (GRCm38) |
M328V |
probably damaging |
Het |
| Adam10 |
T |
G |
9: 70,761,764 (GRCm38) |
V454G |
possibly damaging |
Het |
| Adamts15 |
T |
C |
9: 30,902,226 (GRCm38) |
D881G |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,356,439 (GRCm38) |
V1244A |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,405,534 (GRCm38) |
P123L |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,106,068 (GRCm38) |
I1331T |
possibly damaging |
Het |
| Arntl |
A |
T |
7: 113,313,473 (GRCm38) |
I579L |
probably benign |
Het |
| Atg14 |
T |
A |
14: 47,568,593 (GRCm38) |
|
probably benign |
Het |
| Btnl4 |
A |
G |
17: 34,473,187 (GRCm38) |
M147T |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,359,774 (GRCm38) |
K56E |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,366,245 (GRCm38) |
|
probably null |
Het |
| Cbln1 |
T |
A |
8: 87,472,096 (GRCm38) |
T49S |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,706,846 (GRCm38) |
V763A |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,848,046 (GRCm38) |
Y249H |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 146,102,099 (GRCm38) |
L762H |
probably damaging |
Het |
| Cfap73 |
T |
C |
5: 120,630,058 (GRCm38) |
T212A |
probably benign |
Het |
| Cfi |
A |
G |
3: 129,848,584 (GRCm38) |
E29G |
probably benign |
Het |
| Chmp6 |
A |
T |
11: 119,913,830 (GRCm38) |
|
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,267,679 (GRCm38) |
T386A |
possibly damaging |
Het |
| Coq6 |
T |
A |
12: 84,371,166 (GRCm38) |
L268H |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,362,202 (GRCm38) |
S225P |
probably benign |
Het |
| Dhx58 |
C |
A |
11: 100,695,304 (GRCm38) |
L630F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,900,773 (GRCm38) |
V158E |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,657,339 (GRCm38) |
T239A |
probably benign |
Het |
| Galnt6 |
T |
C |
15: 100,703,361 (GRCm38) |
T346A |
probably damaging |
Het |
| Guca1b |
C |
G |
17: 47,391,177 (GRCm38) |
T185S |
unknown |
Het |
| H2-M5 |
T |
C |
17: 36,987,679 (GRCm38) |
T292A |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,727,576 (GRCm38) |
H455R |
probably benign |
Het |
| Hydin |
A |
G |
8: 110,510,867 (GRCm38) |
Y1924C |
probably benign |
Het |
| Ighg2b |
C |
T |
12: 113,306,454 (GRCm38) |
V315M |
|
Het |
| Ildr2 |
A |
G |
1: 166,307,800 (GRCm38) |
K374E |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,225,842 (GRCm38) |
S1144P |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,566,029 (GRCm38) |
D284G |
probably benign |
Het |
| Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,281,056 (GRCm38) |
|
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,402,234 (GRCm38) |
T160A |
probably benign |
Het |
| Lmod3 |
G |
T |
6: 97,248,473 (GRCm38) |
A129E |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,726,152 (GRCm38) |
C696R |
probably damaging |
Het |
| Mc2r |
A |
G |
18: 68,407,965 (GRCm38) |
F86L |
probably benign |
Het |
| Mfsd7a |
T |
C |
5: 108,444,497 (GRCm38) |
I276V |
probably benign |
Het |
| Mppe1 |
T |
G |
18: 67,228,984 (GRCm38) |
K170T |
probably benign |
Het |
| Mtcl1 |
A |
G |
17: 66,371,330 (GRCm38) |
I667T |
possibly damaging |
Het |
| Mtnr1a |
A |
T |
8: 45,087,826 (GRCm38) |
I275F |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,197,371 (GRCm38) |
I1938V |
probably benign |
Het |
| Npsr1 |
A |
T |
9: 24,289,800 (GRCm38) |
E160V |
probably damaging |
Het |
| Olfr156 |
T |
A |
4: 43,821,086 (GRCm38) |
I92F |
probably damaging |
Het |
| Olfr205 |
C |
T |
16: 59,329,243 (GRCm38) |
D89N |
possibly damaging |
Het |
| Olfr788 |
T |
A |
10: 129,472,998 (GRCm38) |
I102N |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,789,119 (GRCm38) |
Y418F |
probably damaging |
Het |
| Pak7 |
A |
G |
2: 136,116,559 (GRCm38) |
L203S |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,643,582 (GRCm38) |
E508D |
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,642,450 (GRCm38) |
M1V |
probably null |
Het |
| Prpsap2 |
G |
T |
11: 61,756,272 (GRCm38) |
N14K |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,595,868 (GRCm38) |
V215E |
probably null |
Het |
| Ryr2 |
G |
A |
13: 11,792,748 (GRCm38) |
T845I |
probably benign |
Het |
| Scgb2b3 |
G |
A |
7: 31,362,014 (GRCm38) |
T20I |
probably damaging |
Het |
| Serpina1b |
T |
C |
12: 103,728,307 (GRCm38) |
I393V |
possibly damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,259,064 (GRCm38) |
M207V |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,186,134 (GRCm38) |
L843M |
unknown |
Het |
| Sp100 |
T |
C |
1: 85,708,067 (GRCm38) |
V531A |
possibly damaging |
Het |
| Srsf6 |
T |
C |
2: 162,933,840 (GRCm38) |
S190P |
unknown |
Het |
| Stil |
A |
G |
4: 115,032,699 (GRCm38) |
K795E |
possibly damaging |
Het |
| Sugp2 |
A |
G |
8: 70,251,927 (GRCm38) |
R705G |
probably benign |
Het |
| Tnfrsf11a |
T |
A |
1: 105,809,374 (GRCm38) |
C69S |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,421,449 (GRCm38) |
N252K |
probably benign |
Het |
| Ttbk1 |
C |
T |
17: 46,478,938 (GRCm38) |
R133H |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 182,157,350 (GRCm38) |
Y250C |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,086,441 (GRCm38) |
L635P |
probably damaging |
Het |
| Vmn2r52 |
C |
A |
7: 10,162,950 (GRCm38) |
V532L |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,569,170 (GRCm38) |
L1182* |
probably null |
Het |
| Washc2 |
A |
G |
6: 116,248,145 (GRCm38) |
D818G |
probably benign |
Het |
| Xylb |
T |
G |
9: 119,381,545 (GRCm38) |
S365A |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,720,720 (GRCm38) |
|
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,306,827 (GRCm38) |
I1455T |
possibly damaging |
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 |
|
R4031: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 |
|
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'- CTGTGGAGGACAGTGACTTC -3'
(R):5'- TAGCATCAAGAAGCAACCGG -3'
Sequencing Primer
(F):5'- TGACTTCACGCTGCTGG -3'
(R):5'- GCTCTGTAGCCTCAGAAGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation