Incidental Mutation 'R6667:Tbata'
| ID |
527029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbata
|
| Ensembl Gene |
ENSMUSG00000020096 |
| Gene Name |
thymus, brain and testes associated |
| Synonyms |
1700021K02Rik, Spatial |
| MMRRC Submission |
044787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6667 (G1)
|
| Quality Score |
162.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61007743-61024620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61021142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 262
(L262P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035894]
[ENSMUST00000079235]
[ENSMUST00000121297]
[ENSMUST00000122261]
[ENSMUST00000126831]
[ENSMUST00000131879]
[ENSMUST00000140456]
[ENSMUST00000143207]
[ENSMUST00000151886]
[ENSMUST00000148181]
|
| AlphaFold |
Q7TSD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035894
AA Change: L296P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096
AA Change: L296P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
|
Pfam:SPATIAL
|
123 |
316 |
2.8e-64 |
PFAM |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079235
|
| SMART Domains |
Protein: ENSMUSP00000078227
Gene: ENSMUSG00000020096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
92 |
N/A |
INTRINSIC |
|
Pfam:SPATIAL
|
128 |
230 |
2.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121297
|
| SMART Domains |
Protein: ENSMUSP00000113253
Gene: ENSMUSG00000020096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
70 |
N/A |
INTRINSIC |
|
Pfam:SPATIAL
|
82 |
191 |
2.2e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122261
AA Change: L262P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096
AA Change: L262P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
70 |
N/A |
INTRINSIC |
|
Pfam:SPATIAL
|
82 |
282 |
6.7e-76 |
PFAM |
|
low complexity region
|
301 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126831
|
| SMART Domains |
Protein: ENSMUSP00000119957
Gene: ENSMUSG00000020096
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATIAL
|
1 |
155 |
1.9e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131879
|
| SMART Domains |
Protein: ENSMUSP00000118942
Gene: ENSMUSG00000020096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148181
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: This gene encodes a putative transcription factor that is highly expressed in thymic cortical stromal cells, and may be involved in T-cell development. Its expression is developmentally regulated in the testis, where it is restricted to the haploid round spermatids during spermatogenesis, and thus this gene may also have a role in the control of male germ cell development. Alternative splicing of this gene results in two sets of transcript variants: the variants containing 5 additional exons at the 3' end encode long isoforms that are highly expressed in the testis, while the variants lacking the 3' end exons encode short isoforms that are highly expressed in the thymus. Most of the transcripts encoding the short isoforms have been shown to initiate translation from non-AUG (CUG) start sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
T |
4: 124,504,435 (GRCm39) |
A39E |
probably damaging |
Het |
| Agtr1b |
T |
A |
3: 20,369,913 (GRCm39) |
N231I |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,811 (GRCm39) |
E661G |
probably damaging |
Het |
| Ankrd26 |
C |
T |
6: 118,484,749 (GRCm39) |
S1496N |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,621,645 (GRCm39) |
V760A |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,256,770 (GRCm39) |
C343R |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,973,007 (GRCm39) |
M446K |
possibly damaging |
Het |
| Cipc |
T |
C |
12: 87,008,864 (GRCm39) |
V241A |
probably benign |
Het |
| Ddit4l |
A |
G |
3: 137,331,882 (GRCm39) |
K83E |
probably benign |
Het |
| Eif1ad10 |
A |
T |
12: 88,216,475 (GRCm39) |
D132E |
unknown |
Het |
| Epc2 |
A |
G |
2: 49,412,681 (GRCm39) |
T220A |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,219,050 (GRCm39) |
D741G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,068 (GRCm39) |
R365S |
possibly damaging |
Het |
| Ggn |
A |
T |
7: 28,872,093 (GRCm39) |
H491L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ighv6-4 |
A |
G |
12: 114,370,152 (GRCm39) |
V100A |
probably benign |
Het |
| Invs |
A |
T |
4: 48,402,870 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Iqcm |
G |
T |
8: 76,479,980 (GRCm39) |
G313W |
probably damaging |
Het |
| Jph2 |
A |
G |
2: 163,218,206 (GRCm39) |
S157P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,874,004 (GRCm39) |
E1596G |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,567,760 (GRCm39) |
L759Q |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,558,735 (GRCm39) |
L837P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,037,201 (GRCm39) |
T6836I |
probably damaging |
Het |
| Nol12 |
T |
A |
15: 78,824,280 (GRCm39) |
D133E |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,914 (GRCm39) |
V104A |
probably benign |
Het |
| Oxtr |
C |
A |
6: 112,454,060 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
A |
G |
10: 7,538,913 (GRCm39) |
L38P |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,221,817 (GRCm39) |
Y617C |
probably damaging |
Het |
| Potefam3b |
T |
C |
8: 21,161,955 (GRCm39) |
S267P |
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,845,024 (GRCm39) |
N121D |
probably benign |
Het |
| Pvr |
G |
T |
7: 19,639,727 (GRCm39) |
Q380K |
probably benign |
Het |
| Rtn2 |
A |
G |
7: 19,021,184 (GRCm39) |
E188G |
probably benign |
Het |
| Setd4 |
C |
A |
16: 93,386,918 (GRCm39) |
R260L |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,830,494 (GRCm39) |
N374D |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,077,726 (GRCm39) |
I140T |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,409,520 (GRCm39) |
F797L |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,347 (GRCm39) |
C297* |
probably null |
Het |
| Ush1c |
C |
A |
7: 45,875,048 (GRCm39) |
G139C |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,342 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,066 (GRCm39) |
T600I |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,595 (GRCm39) |
M5T |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,423 (GRCm39) |
T422A |
probably benign |
Het |
| Zfp943 |
G |
A |
17: 22,211,889 (GRCm39) |
C325Y |
probably damaging |
Het |
|
| Other mutations in Tbata |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01569:Tbata
|
APN |
10 |
61,011,739 (GRCm39) |
nonsense |
probably null |
|
|
IGL02311:Tbata
|
APN |
10 |
61,015,234 (GRCm39) |
nonsense |
probably null |
|
|
R0417:Tbata
|
UTSW |
10 |
61,016,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Tbata
|
UTSW |
10 |
61,019,270 (GRCm39) |
splice site |
probably null |
|
|
R1956:Tbata
|
UTSW |
10 |
61,019,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1959:Tbata
|
UTSW |
10 |
61,011,623 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2138:Tbata
|
UTSW |
10 |
61,015,063 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4835:Tbata
|
UTSW |
10 |
61,019,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Tbata
|
UTSW |
10 |
61,011,644 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7355:Tbata
|
UTSW |
10 |
61,010,099 (GRCm39) |
unclassified |
probably benign |
|
|
R7863:Tbata
|
UTSW |
10 |
61,011,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9607:Tbata
|
UTSW |
10 |
61,011,626 (GRCm39) |
missense |
probably benign |
|
|
X0066:Tbata
|
UTSW |
10 |
61,024,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Tbata
|
UTSW |
10 |
61,022,172 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGAACCTTTAGGGGAACC -3'
(R):5'- GTATCTGCCCTGCGAATCAG -3'
Sequencing Primer
(F):5'- GAACCAGTTTGCCACGCC -3'
(R):5'- CTGCGAATCAGGAACAAGATC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation