Incidental Mutation 'R4440:Tbr1'
| ID |
329702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbr1
|
| Ensembl Gene |
ENSMUSG00000035033 |
| Gene Name |
T-box brain transcription factor 1 |
| Synonyms |
T-box brain gene 1 |
| MMRRC Submission |
041705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
61633274-61644458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61635182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 44
(D44V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028278]
[ENSMUST00000048934]
[ENSMUST00000102737]
|
| AlphaFold |
Q64336 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028278
|
| SMART Domains |
Protein: ENSMUSP00000028278
Gene: ENSMUSG00000026914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
JAB_MPN
|
30 |
165 |
3.71e-49 |
SMART |
|
Pfam:MitMem_reg
|
173 |
307 |
9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048934
AA Change: D44V
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046787
Gene: ENSMUSG00000035033
AA Change: D44V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
122 |
N/A |
INTRINSIC |
|
TBOX
|
203 |
398 |
1.6e-125 |
SMART |
|
Pfam:T-box_assoc
|
418 |
679 |
9.6e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102737
|
| SMART Domains |
Protein: ENSMUSP00000099798
Gene: ENSMUSG00000035033
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
1 |
135 |
5.05e-41 |
SMART |
|
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154627
|
| Meta Mutation Damage Score |
0.1026 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (46/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted null allele fail to feed and die on the second postnatal day displaying disrupted forebrain morphology and a hypoplastic olfactory bulb that lacks normal mitral and tufted cells and shows a striking reduction in mature olfactory bulb projection neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
G |
T |
2: 168,026,721 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,786,566 (GRCm39) |
G508C |
probably damaging |
Het |
| Armc8 |
T |
A |
9: 99,366,087 (GRCm39) |
H609L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
| Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
| C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
| Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
| Dpysl5 |
T |
C |
5: 30,949,612 (GRCm39) |
F461L |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
| Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,015,433 (GRCm39) |
I421T |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
| Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,238,962 (GRCm39) |
V219A |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
Het |
|
| Other mutations in Tbr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Tbr1
|
APN |
2 |
61,635,625 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01309:Tbr1
|
APN |
2 |
61,636,411 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02161:Tbr1
|
APN |
2 |
61,635,583 (GRCm39) |
nonsense |
probably null |
|
|
IGL02256:Tbr1
|
APN |
2 |
61,635,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02336:Tbr1
|
APN |
2 |
61,635,336 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02526:Tbr1
|
APN |
2 |
61,642,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4340:Tbr1
|
UTSW |
2 |
61,636,691 (GRCm39) |
intron |
probably benign |
|
|
R0594:Tbr1
|
UTSW |
2 |
61,641,964 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0847:Tbr1
|
UTSW |
2 |
61,635,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1101:Tbr1
|
UTSW |
2 |
61,635,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1247:Tbr1
|
UTSW |
2 |
61,641,962 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1944:Tbr1
|
UTSW |
2 |
61,642,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3080:Tbr1
|
UTSW |
2 |
61,637,635 (GRCm39) |
nonsense |
probably null |
|
|
R4110:Tbr1
|
UTSW |
2 |
61,642,076 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4111:Tbr1
|
UTSW |
2 |
61,642,076 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4790:Tbr1
|
UTSW |
2 |
61,641,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4979:Tbr1
|
UTSW |
2 |
61,635,593 (GRCm39) |
splice site |
probably null |
|
|
R5054:Tbr1
|
UTSW |
2 |
61,636,346 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5283:Tbr1
|
UTSW |
2 |
61,635,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5545:Tbr1
|
UTSW |
2 |
61,637,720 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6178:Tbr1
|
UTSW |
2 |
61,635,159 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6290:Tbr1
|
UTSW |
2 |
61,635,394 (GRCm39) |
missense |
probably benign |
|
|
R6389:Tbr1
|
UTSW |
2 |
61,636,631 (GRCm39) |
start gained |
probably benign |
|
|
R6637:Tbr1
|
UTSW |
2 |
61,641,974 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6983:Tbr1
|
UTSW |
2 |
61,642,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Tbr1
|
UTSW |
2 |
61,637,688 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7112:Tbr1
|
UTSW |
2 |
61,642,160 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7254:Tbr1
|
UTSW |
2 |
61,636,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Tbr1
|
UTSW |
2 |
61,642,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Tbr1
|
UTSW |
2 |
61,635,161 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8253:Tbr1
|
UTSW |
2 |
61,635,585 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8811:Tbr1
|
UTSW |
2 |
61,642,196 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9258:Tbr1
|
UTSW |
2 |
61,642,723 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9716:Tbr1
|
UTSW |
2 |
61,635,077 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Tbr1
|
UTSW |
2 |
61,642,491 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Tbr1
|
UTSW |
2 |
61,642,575 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCATAGTGTCAATTGGCC -3'
(R):5'- GAGCCATCGAAACTGTGACG -3'
Sequencing Primer
(F):5'- GCATAGTGTCAATTGGCCAATCTC -3'
(R):5'- TCGAAACTGTGACGAAGCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation