Incidental Mutation 'R7233:Tshz1'
ID |
562669 |
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 |
045343-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7233 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84032944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 488
(D488G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
AlphaFold |
Q5DTH5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060303
AA Change: D488G
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000089388 Gene: ENSMUSG00000046982 AA Change: D488G
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: 98.8%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,762,641 (GRCm39) |
K505R |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 103,026,367 (GRCm39) |
K263E |
probably benign |
Het |
Ark2n |
C |
A |
18: 77,722,882 (GRCm39) |
V385F |
probably damaging |
Het |
Armc2 |
A |
T |
10: 41,799,800 (GRCm39) |
V686D |
probably damaging |
Het |
Bhmt |
T |
A |
13: 93,758,025 (GRCm39) |
K229* |
probably null |
Het |
Birc2 |
A |
T |
9: 7,827,009 (GRCm39) |
C326S |
probably damaging |
Het |
Blzf1 |
A |
T |
1: 164,123,512 (GRCm39) |
|
probably null |
Het |
Camsap3 |
T |
A |
8: 3,650,371 (GRCm39) |
F223Y |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Ces2h |
T |
A |
8: 105,744,088 (GRCm39) |
C279S |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,242,771 (GRCm39) |
L725Q |
probably damaging |
Het |
Cibar2 |
A |
G |
8: 120,898,661 (GRCm39) |
L131P |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,749,922 (GRCm39) |
E987G |
probably damaging |
Het |
Cog1 |
G |
T |
11: 113,540,556 (GRCm39) |
R57L |
probably damaging |
Het |
Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Dnttip2 |
T |
C |
3: 122,070,039 (GRCm39) |
V418A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,403,749 (GRCm39) |
A186T |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,730,669 (GRCm39) |
S1966P |
possibly damaging |
Het |
Engase |
T |
A |
11: 118,373,827 (GRCm39) |
V323E |
probably damaging |
Het |
Farsb |
A |
G |
1: 78,447,718 (GRCm39) |
|
probably null |
Het |
Fpr2 |
G |
T |
17: 18,113,766 (GRCm39) |
W254L |
probably damaging |
Het |
Frmd3 |
A |
C |
4: 73,932,023 (GRCm39) |
H6P |
probably benign |
Het |
Fscn1 |
C |
T |
5: 142,956,029 (GRCm39) |
S366L |
possibly damaging |
Het |
Galt |
T |
A |
4: 41,758,267 (GRCm39) |
I344N |
probably benign |
Het |
Gfra4 |
A |
T |
2: 130,883,037 (GRCm39) |
V194E |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,735,120 (GRCm39) |
S1497P |
possibly damaging |
Het |
Igfn1 |
A |
C |
1: 135,897,873 (GRCm39) |
S898A |
probably benign |
Het |
Igkv1-135 |
T |
C |
6: 67,587,332 (GRCm39) |
S68P |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,107,659 (GRCm39) |
C784S |
probably damaging |
Het |
Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
Lats2 |
A |
T |
14: 57,960,151 (GRCm39) |
|
probably null |
Het |
Lgr6 |
A |
C |
1: 134,928,214 (GRCm39) |
|
probably null |
Het |
Lrp1 |
A |
T |
10: 127,430,930 (GRCm39) |
I373N |
probably damaging |
Het |
Maml2 |
A |
T |
9: 13,532,067 (GRCm39) |
H427L |
|
Het |
Mansc1 |
A |
G |
6: 134,598,806 (GRCm39) |
V37A |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
Mastl |
A |
G |
2: 23,023,670 (GRCm39) |
I351T |
probably benign |
Het |
Mcmdc2 |
T |
G |
1: 10,002,408 (GRCm39) |
|
probably null |
Het |
Mrgprd |
A |
G |
7: 144,875,672 (GRCm39) |
D181G |
possibly damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Msra |
T |
C |
14: 64,360,714 (GRCm39) |
Y209C |
probably damaging |
Het |
Musk |
A |
G |
4: 58,373,307 (GRCm39) |
E759G |
possibly damaging |
Het |
Nab1 |
T |
C |
1: 52,498,378 (GRCm39) |
*487W |
probably null |
Het |
Or2z9 |
A |
G |
8: 72,853,900 (GRCm39) |
T99A |
probably benign |
Het |
Or5p66 |
T |
A |
7: 107,885,923 (GRCm39) |
T137S |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,705,349 (GRCm39) |
S196P |
probably damaging |
Het |
Pln |
A |
G |
10: 53,220,008 (GRCm39) |
T17A |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,581,619 (GRCm39) |
|
probably null |
Het |
Ppp1r14a |
T |
A |
7: 28,988,949 (GRCm39) |
Y64N |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,134,804 (GRCm39) |
H959L |
probably benign |
Het |
Pramel42 |
A |
T |
5: 94,685,524 (GRCm39) |
M395L |
probably benign |
Het |
Prmt7 |
A |
G |
8: 106,946,642 (GRCm39) |
T75A |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,816 (GRCm39) |
S319G |
possibly damaging |
Het |
Prtg |
G |
A |
9: 72,819,273 (GRCm39) |
G1089S |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,978,020 (GRCm39) |
D596G |
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,894 (GRCm39) |
G793S |
unknown |
Het |
Rora |
A |
T |
9: 69,104,804 (GRCm39) |
R43* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,863,963 (GRCm39) |
Y482H |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,122 (GRCm39) |
N176Y |
probably damaging |
Het |
Slc44a2 |
G |
T |
9: 21,259,445 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,089,044 (GRCm39) |
V606A |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,587 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
C |
10: 5,252,160 (GRCm39) |
L2498R |
probably damaging |
Het |
Synpo2 |
T |
G |
3: 122,911,333 (GRCm39) |
H104P |
probably benign |
Het |
Tapbp |
G |
T |
17: 34,138,943 (GRCm39) |
A46S |
probably damaging |
Het |
Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,956,908 (GRCm39) |
L70P |
probably damaging |
Het |
Zcchc17 |
T |
A |
4: 130,221,116 (GRCm39) |
D145V |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,716,978 (GRCm39) |
L1037M |
probably damaging |
Het |
Zfp324 |
C |
T |
7: 12,704,524 (GRCm39) |
Q238* |
probably null |
Het |
Zfp874a |
A |
G |
13: 67,590,776 (GRCm39) |
Y303H |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,918 (GRCm39) |
K232E |
probably benign |
Het |
Zfp982 |
T |
A |
4: 147,597,718 (GRCm39) |
N358K |
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,650,092 (GRCm39) |
P417S |
possibly 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 |
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'- GGCTGTCATCTAGGTCTTCC -3'
(R):5'- AGTGCATGGAATGTGGCAGC -3'
Sequencing Primer
(F):5'- AGGTCTTCCTCACGCAGGTAC -3'
(R):5'- GAATGTGGCAGCTCCCATGATAC -3'
|
Posted On |
2019-06-26 |