Incidental Mutation 'R1895:Tshz1'
| ID |
209781 |
| 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 |
039915-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84031558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 950
(L950Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060303
AA Change: L950Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: L950Q
| 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 |
0.6488 |
| Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.2%
- 20x: 86.6%
|
| Validation Efficiency |
96% (100/104) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,039,551 (GRCm39) |
S253P |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,412,314 (GRCm39) |
D431G |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,522,368 (GRCm39) |
C5923Y |
probably damaging |
Het |
| Akr1b10 |
T |
A |
6: 34,365,805 (GRCm39) |
I110N |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,378 (GRCm39) |
|
probably null |
Het |
| Arhgef12 |
G |
T |
9: 42,917,152 (GRCm39) |
Q396K |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,059,443 (GRCm39) |
T56A |
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,706,443 (GRCm39) |
V46A |
probably benign |
Het |
| AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,657,520 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cdh8 |
T |
C |
8: 100,006,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
| Col4a3 |
A |
T |
1: 82,656,829 (GRCm39) |
K749N |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,299 (GRCm39) |
V150I |
possibly damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,088,981 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,835,494 (GRCm39) |
D990G |
probably benign |
Het |
| Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,973,677 (GRCm39) |
N364S |
possibly damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
| F930017D23Rik |
G |
A |
10: 43,469,440 (GRCm39) |
|
noncoding transcript |
Het |
| Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fut2 |
A |
G |
7: 45,300,748 (GRCm39) |
F8S |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,575,440 (GRCm39) |
T515S |
probably benign |
Het |
| Glmn |
T |
C |
5: 107,718,110 (GRCm39) |
D269G |
probably benign |
Het |
| Gpatch4 |
A |
G |
3: 87,959,409 (GRCm39) |
Y106C |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,123 (GRCm39) |
W576R |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,694,767 (GRCm39) |
D701G |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,591,860 (GRCm39) |
I687K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,295,647 (GRCm39) |
S2619P |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,704,340 (GRCm39) |
V272E |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
| Kif11 |
G |
A |
19: 37,375,847 (GRCm39) |
R220K |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,152 (GRCm39) |
V1986E |
probably benign |
Het |
| Lrp11 |
T |
C |
10: 7,499,540 (GRCm39) |
Y244H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,555,159 (GRCm39) |
D320V |
unknown |
Het |
| Map4k5 |
A |
T |
12: 69,892,529 (GRCm39) |
D133E |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,586,558 (GRCm39) |
D461V |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,411,382 (GRCm39) |
T1443P |
unknown |
Het |
| Mxi1 |
G |
A |
19: 53,358,775 (GRCm39) |
R236H |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,386,396 (GRCm39) |
W1211R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,901,097 (GRCm39) |
N896K |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,323,672 (GRCm39) |
I355N |
probably benign |
Het |
| Nxpe5 |
T |
C |
5: 138,249,785 (GRCm39) |
V525A |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,993,648 (GRCm39) |
T287S |
probably benign |
Het |
| Or1n1b |
A |
T |
2: 36,780,458 (GRCm39) |
M134K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,487 (GRCm39) |
S167P |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,726 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,758 (GRCm39) |
I28N |
probably damaging |
Het |
| Or8b3 |
T |
A |
9: 38,314,182 (GRCm39) |
M1K |
probably null |
Het |
| Pakap |
T |
C |
4: 57,638,068 (GRCm39) |
V35A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,822 (GRCm39) |
C346R |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,744,209 (GRCm39) |
E764G |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,415,652 (GRCm39) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,489,188 (GRCm39) |
S707G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,088,435 (GRCm39) |
V77E |
probably benign |
Het |
| Prob1 |
T |
A |
18: 35,785,942 (GRCm39) |
T771S |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,681,768 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,285,885 (GRCm39) |
I110V |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,043 (GRCm39) |
H667L |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,623,810 (GRCm39) |
Q573R |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
| Slc11a2 |
G |
A |
15: 100,301,775 (GRCm39) |
R249C |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
| Snx19 |
T |
A |
9: 30,343,620 (GRCm39) |
N593K |
probably damaging |
Het |
| Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
| Stil |
T |
C |
4: 114,881,072 (GRCm39) |
S539P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,141 (GRCm39) |
K71R |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,385,015 (GRCm39) |
H524L |
probably damaging |
Het |
| Tex30 |
C |
T |
1: 44,130,564 (GRCm39) |
G68D |
probably damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,500 (GRCm39) |
Y138C |
probably damaging |
Het |
| Tmem43 |
A |
T |
6: 91,463,891 (GRCm39) |
I389F |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,873,556 (GRCm39) |
N488Y |
probably damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,885 (GRCm39) |
I246V |
probably benign |
Het |
| Vmn1r188 |
T |
G |
13: 22,272,815 (GRCm39) |
S256R |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,231,133 (GRCm39) |
E487K |
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 |
|
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 |
|
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'- ACGACACTCTGCTGCTCTTG -3'
(R):5'- TCACCTGTTCACAAGAGAAAGG -3'
Sequencing Primer
(F):5'- CTGCTGCTCTTGTATCTGACTGAG -3'
(R):5'- AGGGGCGCCAGTCCAATTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation