Incidental Mutation 'R9579:Tubb4b'
ID 722444
Institutional Source Beutler Lab
Gene Symbol Tubb4b
Ensembl Gene ENSMUSG00000036752
Gene Name tubulin, beta 4B class IVB
Synonyms 4930542G03Rik, Tubb2c
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R9579 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25112172-25114714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25114139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 55 (T55A)
Ref Sequence ENSEMBL: ENSMUSP00000042342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000028346] [ENSMUST00000043584]
AlphaFold P68372
Predicted Effect probably benign
Transcript: ENSMUST00000006638
SMART Domains Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 84 231 1.8e-25 PFAM
low complexity region 254 269 N/A INTRINSIC
Pfam:Na_Pi_cotrans 337 538 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028346
SMART Domains Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969

DomainStartEndE-ValueType
Pfam:DUF2475 13 71 8.1e-16 PFAM
low complexity region 130 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043584
AA Change: T55A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042342
Gene: ENSMUSG00000036752
AA Change: T55A

DomainStartEndE-ValueType
Tubulin 47 244 1.04e-67 SMART
Tubulin_C 246 383 3.89e-49 SMART
low complexity region 428 445 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C A 11: 46,009,262 (GRCm39) H229N probably benign Het
Ak9 C A 10: 41,213,576 (GRCm39) H260Q Het
Akap3 G A 6: 126,850,974 (GRCm39) V831I probably damaging Het
Arhgap45 T C 10: 79,853,843 (GRCm39) F119S probably benign Het
Best3 A G 10: 116,829,100 (GRCm39) T127A probably damaging Het
Ccdc7a G A 8: 129,774,134 (GRCm39) Q134* probably null Het
Ceacam5 C A 7: 17,479,561 (GRCm39) S226Y probably damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Cul4a G A 8: 13,186,147 (GRCm39) E450K probably damaging Het
Cyb5a A T 18: 84,891,273 (GRCm39) R89S probably benign Het
Dnah2 A G 11: 69,368,041 (GRCm39) L1766P probably damaging Het
Gbp4 T C 5: 105,270,947 (GRCm39) E228G probably damaging Het
Ghr A G 15: 3,349,612 (GRCm39) I522T probably benign Het
Gm5225 A C 17: 24,242,897 (GRCm39) H22P possibly damaging Het
Herc2 T A 7: 55,758,500 (GRCm39) C796S probably damaging Het
Hmgxb4 G T 8: 75,756,638 (GRCm39) A588S probably damaging Het
Lats2 G A 14: 57,937,191 (GRCm39) P433S probably damaging Het
Lrfn1 C T 7: 28,166,769 (GRCm39) T721I probably damaging Het
Matcap1 A T 8: 106,012,379 (GRCm39) S23T probably benign Het
Mpzl3 G A 9: 44,973,350 (GRCm39) V30I probably benign Het
Or2r3 A T 6: 42,448,574 (GRCm39) C179* probably null Het
Pcdh15 A G 10: 74,457,117 (GRCm39) Y1298C possibly damaging Het
Plcd4 C A 1: 74,596,948 (GRCm39) H397N probably benign Het
Pnn G A 12: 59,117,030 (GRCm39) A201T possibly damaging Het
Ptprd C G 4: 75,872,315 (GRCm39) A1134P possibly damaging Het
Rabl3 T C 16: 37,362,230 (GRCm39) V23A probably damaging Het
Rnf157 T C 11: 116,240,822 (GRCm39) N423S probably benign Het
Rtn1 T C 12: 72,270,289 (GRCm39) D601G probably damaging Het
Rxfp1 A G 3: 79,557,946 (GRCm39) Y511H probably damaging Het
Sema5b T C 16: 35,467,582 (GRCm39) M282T probably benign Het
Slco5a1 G T 1: 12,949,383 (GRCm39) S669* probably null Het
Sphkap C G 1: 83,255,295 (GRCm39) G818A probably damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Syne3 T C 12: 104,942,107 (GRCm39) S12G probably damaging Het
Tmem150a C A 6: 72,334,070 (GRCm39) Q51K probably benign Het
Ttn C T 2: 76,550,196 (GRCm39) D31662N probably damaging Het
Ttn C T 2: 76,578,602 (GRCm39) G24097D probably damaging Het
Vcan A T 13: 89,837,713 (GRCm39) D2610E possibly damaging Het
Xkr5 T C 8: 18,983,785 (GRCm39) T586A probably benign Het
Zfp260 T C 7: 29,805,108 (GRCm39) F336S Het
Zic1 A G 9: 91,246,790 (GRCm39) F94S probably damaging Het
Other mutations in Tubb4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5903:Tubb4b UTSW 2 25,113,993 (GRCm39) missense probably benign 0.00
R7226:Tubb4b UTSW 2 25,114,180 (GRCm39) missense probably benign 0.02
Z1177:Tubb4b UTSW 2 25,112,532 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGTCTGAAGATCTGCCCGAAG -3'
(R):5'- TTCATTGCGTCCTGGATACCG -3'

Sequencing Primer
(F):5'- AAGGGCCCTGAACGCAC -3'
(R):5'- TCCTGGATACCGGCGTAC -3'
Posted On 2022-08-09