Incidental Mutation 'R4110:Tbr1'
ID 317232
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 040988-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4110 (G1)
Quality Score 202
Status Validated
Chromosome 2
Chromosomal Location 61633274-61644458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61642076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 184 (P184L)
Ref Sequence ENSEMBL: ENSMUSP00000099798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048934] [ENSMUST00000102737]
AlphaFold Q64336
Predicted Effect probably benign
Transcript: ENSMUST00000048934
AA Change: P447L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000046787
Gene: ENSMUSG00000035033
AA Change: P447L

DomainStartEndE-ValueType
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
AA Change: P184L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099798
Gene: ENSMUSG00000035033
AA Change: P184L

DomainStartEndE-ValueType
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: ENSMUST00000131538
Meta Mutation Damage Score 0.1202 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 100% (61/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot10 A T 15: 20,666,612 (GRCm39) L43Q probably damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Als2cl T C 9: 110,713,115 (GRCm39) S2P probably benign Het
AW209491 T C 13: 14,812,158 (GRCm39) V337A probably damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
BC023105 A G 18: 60,575,356 (GRCm39) noncoding transcript Het
Blvra T C 2: 126,937,075 (GRCm39) V176A probably damaging Het
Casp2 G A 6: 42,244,828 (GRCm39) A76T probably damaging Het
Ccdc88c A G 12: 100,911,332 (GRCm39) L34P probably damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col6a2 T A 10: 76,442,003 (GRCm39) probably null Het
Cse1l T C 2: 166,783,970 (GRCm39) Y488H probably benign Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dnajb12 T A 10: 59,730,136 (GRCm39) S270R possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dscaml1 G A 9: 45,643,366 (GRCm39) A1262T probably benign Het
Dtwd2 A C 18: 49,831,373 (GRCm39) probably benign Het
Fadd C A 7: 144,134,488 (GRCm39) K132N possibly damaging Het
Fndc3c1 T C X: 105,487,897 (GRCm39) N462S probably benign Het
Fzd3 A G 14: 65,472,616 (GRCm39) V384A probably benign Het
Gm6370 T C 5: 146,430,702 (GRCm39) S296P probably benign Het
Gsdmc T A 15: 63,651,876 (GRCm39) H245L probably benign Het
H13 T C 2: 152,523,029 (GRCm39) I114T probably damaging Het
Hhipl2 A G 1: 183,204,920 (GRCm39) R78G probably benign Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Ldc1 A T 4: 130,112,967 (GRCm39) L143Q probably damaging Het
Man2c1 A G 9: 57,044,055 (GRCm39) N330S probably damaging Het
Muc19 T A 15: 91,781,816 (GRCm39) noncoding transcript Het
Myh14 T G 7: 44,277,974 (GRCm39) M1092L probably benign Het
Neb A G 2: 52,038,778 (GRCm39) I2899T probably benign Het
Neb T A 2: 52,134,137 (GRCm39) Q3282L probably damaging Het
Nqo2 A T 13: 34,163,620 (GRCm39) Q93L probably benign Het
Or13a18 T A 7: 140,190,178 (GRCm39) L33Q possibly damaging Het
Or13a18 C A 7: 140,190,177 (GRCm39) L33M probably benign Het
Or4a2 C A 2: 89,248,444 (GRCm39) L104F probably benign Het
Or51i2 T C 7: 103,689,609 (GRCm39) V202A probably damaging Het
Pcsk1 A G 13: 75,244,488 (GRCm39) N122S probably damaging Het
Pdzrn4 A G 15: 92,668,745 (GRCm39) I966V probably benign Het
Phldb1 G A 9: 44,627,128 (GRCm39) T439I possibly damaging Het
Pign A G 1: 105,481,540 (GRCm39) probably benign Het
Pkn1 A T 8: 84,417,828 (GRCm39) D120E probably benign Het
Ptpru A G 4: 131,546,348 (GRCm39) Y301H probably damaging Het
Raly C T 2: 154,699,378 (GRCm39) Q61* probably null Het
Rpl24 T C 16: 55,791,723 (GRCm39) V148A probably benign Het
S100a16 A G 3: 90,449,379 (GRCm39) N18S probably damaging Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Sgca T C 11: 94,863,396 (GRCm39) T27A possibly damaging Het
Slc22a12 C A 19: 6,590,658 (GRCm39) R203L probably damaging Het
Ssbp3 C A 4: 106,904,393 (GRCm39) probably benign Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tnc A G 4: 63,933,188 (GRCm39) V692A probably damaging Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Topbp1 G T 9: 103,187,158 (GRCm39) R121L probably damaging Het
Unc79 T C 12: 103,025,629 (GRCm39) C339R probably damaging Het
Wdfy3 C T 5: 102,047,924 (GRCm39) probably null Het
Zbtb3 G C 19: 8,780,384 (GRCm39) probably benign Het
Zfp715 T A 7: 42,947,304 (GRCm39) K885N possibly damaging Het
Other mutations in Tbr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4111:Tbr1 UTSW 2 61,642,076 (GRCm39) missense probably benign 0.18
R4440:Tbr1 UTSW 2 61,635,182 (GRCm39) missense possibly damaging 0.92
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'- ACTAGAGGTGGCTTTCCCTC -3'
(R):5'- TTGGCCTGCTCGTAAATCCC -3'

Sequencing Primer
(F):5'- CCAAAGGGACCTCCGCG -3'
(R):5'- ATACGACAGCAGCGTGGC -3'
Posted On 2015-05-15