Incidental Mutation 'R0294:Actl7b'
ID 26275
Institutional Source Beutler Lab
Gene Symbol Actl7b
Ensembl Gene ENSMUSG00000070980
Gene Name actin-like 7b
Synonyms ENSMUSG00000070980, Tact1, t-actin 1
MMRRC Submission 038511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0294 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 56740005-56741425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56740848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 170 (L170Q)
Ref Sequence ENSEMBL: ENSMUSP00000092693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095079] [ENSMUST00000095080] [ENSMUST00000181745]
AlphaFold Q9QY83
Predicted Effect probably benign
Transcript: ENSMUST00000095079
SMART Domains Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979

DomainStartEndE-ValueType
Pfam:ACTL7A_N 6 70 1.3e-39 PFAM
ACTIN 74 440 4.63e-123 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095080
AA Change: L170Q

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
AA Change: L170Q

DomainStartEndE-ValueType
ACTIN 51 418 1.6e-117 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181745
AA Change: Q11L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Aadat A G 8: 60,987,642 (GRCm39) E319G possibly damaging Het
Abca13 A G 11: 9,219,122 (GRCm39) probably null Het
Adam29 C A 8: 56,326,311 (GRCm39) V48L probably benign Het
Aknad1 A G 3: 108,682,508 (GRCm39) Y528C probably damaging Het
Alas1 T A 9: 106,118,455 (GRCm39) K222N probably damaging Het
Aplf A G 6: 87,623,227 (GRCm39) V284A probably benign Het
Atp11a G A 8: 12,877,524 (GRCm39) V317M probably benign Het
Bub3 A G 7: 131,169,953 (GRCm39) E206G possibly damaging Het
Cblb T G 16: 51,956,187 (GRCm39) F263L probably damaging Het
Ces2h T A 8: 105,743,236 (GRCm39) M157K probably benign Het
Cfh A G 1: 140,110,999 (GRCm39) F6L probably benign Het
Chst1 G T 2: 92,443,987 (GRCm39) R153L probably damaging Het
Cimap2 T C 4: 106,470,361 (GRCm39) D232G probably damaging Het
Cntnap5a T A 1: 115,843,046 (GRCm39) N121K probably benign Het
Crybg1 A T 10: 43,862,372 (GRCm39) S1467R probably damaging Het
Cyp2d22 A G 15: 82,258,646 (GRCm39) F72L possibly damaging Het
Dmrt2 C T 19: 25,655,435 (GRCm39) P345S probably damaging Het
Dock8 T C 19: 25,165,714 (GRCm39) I1866T probably damaging Het
Egfem1 A G 3: 29,744,270 (GRCm39) N503S probably damaging Het
Ehbp1 T C 11: 22,045,427 (GRCm39) D774G probably benign Het
Foxp2 C A 6: 15,376,773 (GRCm39) probably benign Het
Gins3 T C 8: 96,364,547 (GRCm39) V99A possibly damaging Het
Grm1 A T 10: 10,956,143 (GRCm39) I47N probably damaging Het
H2aj C G 6: 136,785,602 (GRCm39) R89G probably damaging Het
Hsdl2 T A 4: 59,601,408 (GRCm39) S127T probably benign Het
Il5ra A T 6: 106,689,362 (GRCm39) M410K probably benign Het
Ints7 A G 1: 191,344,003 (GRCm39) S548G possibly damaging Het
Kcnt1 A G 2: 25,778,122 (GRCm39) E80G probably damaging Het
Lgr6 T A 1: 135,032,799 (GRCm39) Q27L unknown Het
Lgr6 A G 1: 134,915,629 (GRCm39) V373A probably damaging Het
Map3k14 T C 11: 103,117,963 (GRCm39) I610V possibly damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Metap1d T A 2: 71,352,889 (GRCm39) H239Q probably benign Het
Mgst2 A G 3: 51,589,251 (GRCm39) Y88C probably damaging Het
Mroh4 T C 15: 74,477,998 (GRCm39) N903D probably benign Het
Nbeal2 T G 9: 110,461,927 (GRCm39) D1476A probably damaging Het
Nlgn1 C A 3: 26,187,625 (GRCm39) A87S probably benign Het
Nln C T 13: 104,189,087 (GRCm39) G295S probably damaging Het
Nnt T A 13: 119,472,803 (GRCm39) Y719F probably benign Het
Nnt T G 13: 119,474,953 (GRCm39) I659L possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51b17 A T 7: 103,542,137 (GRCm39) H268Q probably benign Het
Or52s6 G A 7: 103,092,291 (GRCm39) T13I possibly damaging Het
Or5p78 A T 7: 108,212,357 (GRCm39) Y281F probably damaging Het
Or9g4 A G 2: 85,505,060 (GRCm39) V145A probably damaging Het
Otogl C T 10: 107,613,089 (GRCm39) C2041Y probably damaging Het
Patj G T 4: 98,385,285 (GRCm39) D300Y probably damaging Het
Pkhd1l1 A T 15: 44,423,831 (GRCm39) E3124D probably benign Het
Plbd2 A G 5: 120,625,514 (GRCm39) probably null Het
Pphln1 T C 15: 93,318,171 (GRCm39) Y57H probably damaging Het
Ppp1r16b C T 2: 158,588,523 (GRCm39) T78M probably damaging Het
Prss40 T G 1: 34,595,162 (GRCm39) D224A possibly damaging Het
Senp6 A G 9: 80,021,007 (GRCm39) probably null Het
Shank3 A G 15: 89,416,301 (GRCm39) E666G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc22a18 G A 7: 143,046,578 (GRCm39) probably null Het
Slc5a4b A G 10: 75,917,161 (GRCm39) C292R probably damaging Het
Spata31e5 T C 1: 28,817,744 (GRCm39) Q96R probably benign Het
Sphkap T A 1: 83,255,966 (GRCm39) E594D possibly damaging Het
Srpra T A 9: 35,126,811 (GRCm39) M61K probably damaging Het
Trmt10c A T 16: 55,855,240 (GRCm39) Y132N possibly damaging Het
Other mutations in Actl7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Actl7b APN 4 56,740,677 (GRCm39) missense probably damaging 1.00
IGL02252:Actl7b APN 4 56,741,205 (GRCm39) missense probably damaging 0.97
IGL02927:Actl7b APN 4 56,740,609 (GRCm39) missense probably damaging 1.00
IGL03370:Actl7b APN 4 56,741,173 (GRCm39) missense probably damaging 1.00
R1711:Actl7b UTSW 4 56,740,165 (GRCm39) nonsense probably null
R4773:Actl7b UTSW 4 56,740,972 (GRCm39) missense probably benign
R6110:Actl7b UTSW 4 56,740,224 (GRCm39) missense probably damaging 1.00
R6423:Actl7b UTSW 4 56,741,213 (GRCm39) missense probably benign 0.03
R7039:Actl7b UTSW 4 56,741,022 (GRCm39) missense probably damaging 0.98
R7250:Actl7b UTSW 4 56,741,035 (GRCm39) missense probably benign 0.00
R7604:Actl7b UTSW 4 56,740,693 (GRCm39) missense probably benign
R8025:Actl7b UTSW 4 56,741,137 (GRCm39) missense probably damaging 1.00
R8352:Actl7b UTSW 4 56,740,251 (GRCm39) missense probably damaging 0.99
R8452:Actl7b UTSW 4 56,740,251 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTCGTCTGAAAACTTGTGGCCTG -3'
(R):5'- AACCCACTGAAGCACGGAGTTG -3'

Sequencing Primer
(F):5'- GCCTGCCTCATTGAGTAGC -3'
(R):5'- CACGGAGTTGTGGTGGAC -3'
Posted On 2013-04-16