Incidental Mutation 'R8253:Tbr1'
ID 640112
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 067679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 61633274-61644458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 61635585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 178 (Q178H)
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000048934
AA Change: Q178H

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046787
Gene: ENSMUSG00000035033
AA Change: Q178H

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
SMART Domains Protein: ENSMUSP00000099798
Gene: ENSMUSG00000035033

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,874,702 (GRCm39) E493G probably benign Het
Akr1a1 A T 4: 116,493,840 (GRCm39) D313E probably damaging Het
Ap1m1 T A 8: 73,006,730 (GRCm39) V242E probably damaging Het
Atad2b T A 12: 5,024,159 (GRCm39) S670T possibly damaging Het
Atad2b C T 12: 5,024,160 (GRCm39) S670L probably benign Het
Atp23 C T 10: 126,704,543 (GRCm39) G197S probably benign Het
Avpr1b A T 1: 131,537,154 (GRCm39) T313S probably benign Het
Cblc A G 7: 19,520,157 (GRCm39) I362T probably damaging Het
Ccdc171 T A 4: 83,661,207 (GRCm39) S1106T probably damaging Het
Cimap3 T C 3: 105,905,683 (GRCm39) M193V probably benign Het
Csde1 C A 3: 102,946,037 (GRCm39) N10K probably damaging Het
Csnk2a2 T C 8: 96,215,005 (GRCm39) Y24C Het
Cyb5r4 G T 9: 86,941,108 (GRCm39) L420F probably damaging Het
Cyth4 A G 15: 78,486,937 (GRCm39) I22V probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dner C T 1: 84,512,598 (GRCm39) G323E probably damaging Het
Elf1 T C 14: 79,773,792 (GRCm39) M1T probably null Het
Fam13c T C 10: 70,389,033 (GRCm39) S520P probably damaging Het
Fhip1b T A 7: 105,028,294 (GRCm39) H885L possibly damaging Het
Gabra2 A G 5: 71,249,413 (GRCm39) I30T probably benign Het
Gm6793 T A 8: 112,741,640 (GRCm39) M1L probably benign Het
Inpp5a T C 7: 139,061,556 (GRCm39) L76P probably damaging Het
Itih5 T C 2: 10,243,406 (GRCm39) I381T probably benign Het
Lyrm7 T C 11: 54,741,227 (GRCm39) I36V probably null Het
Magi2 A G 5: 20,814,305 (GRCm39) I906V probably benign Het
Mup5 C T 4: 61,752,811 (GRCm39) A71T probably benign Het
Ndufaf6 G A 4: 11,059,086 (GRCm39) R248W probably damaging Het
Or52z14 A T 7: 103,253,538 (GRCm39) I226L possibly damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Palm A T 10: 79,643,511 (GRCm39) K80* probably null Het
Pcyox1 C T 6: 86,366,044 (GRCm39) R390K probably benign Het
Pdx1 T C 5: 147,207,459 (GRCm39) probably null Het
Pkp2 T A 16: 16,086,406 (GRCm39) V689D probably damaging Het
Prkar2a G T 9: 108,617,638 (GRCm39) R232L probably damaging Het
Rasgrp4 C T 7: 28,838,287 (GRCm39) T87M possibly damaging Het
Ryr2 T A 13: 11,842,439 (GRCm39) Q486L possibly damaging Het
Shd T C 17: 56,283,295 (GRCm39) V309A Het
Skint7 C T 4: 111,834,675 (GRCm39) Q20* probably null Het
Slc35g1 C A 19: 38,391,237 (GRCm39) T173K probably damaging Het
Slit2 T C 5: 48,433,013 (GRCm39) F1073L probably benign Het
Snx18 T A 13: 113,731,317 (GRCm39) D559V probably damaging Het
Tmem145 T G 7: 25,006,939 (GRCm39) Y114D probably damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Uba2 T C 7: 33,850,323 (GRCm39) M377V probably damaging Het
Vps13c T A 9: 67,850,770 (GRCm39) Y2242* probably null Het
Xdh T G 17: 74,225,377 (GRCm39) Q475P possibly damaging Het
Zbtb42 T G 12: 112,646,746 (GRCm39) L307R probably 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
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
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
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'- TGCTGCAGATCGTTACCTACTC -3'
(R):5'- CAAGAAAGTAGCATTACCTTCCCTG -3'

Sequencing Primer
(F):5'- GCAGATCGTTACCTACTCTCTCAG -3'
(R):5'- AAGTAGCATTACCTTCCCTGTTTAG -3'
Posted On 2020-07-28