Incidental Mutation 'IGL01023:Fam24b'
ID 53704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam24b
Ensembl Gene ENSMUSG00000030858
Gene Name family with sequence similarity 24 member B
Synonyms 1700007K09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL01023
Quality Score
Status
Chromosome 7
Chromosomal Location 130927673-130931245 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 130927903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 95 (C95*)
Ref Sequence ENSEMBL: ENSMUSP00000139545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033146] [ENSMUST00000046611] [ENSMUST00000124096] [ENSMUST00000188899]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000033146
AA Change: C95*
SMART Domains Protein: ENSMUSP00000033146
Gene: ENSMUSG00000030858
AA Change: C95*

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:FAM24 78 119 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046611
SMART Domains Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205

DomainStartEndE-ValueType
CUB 32 146 1.78e-16 SMART
CUB 154 265 1.1e-44 SMART
ZP 276 519 1.39e-63 SMART
transmembrane domain 571 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000188899
AA Change: C95*
SMART Domains Protein: ENSMUSP00000139545
Gene: ENSMUSG00000030858
AA Change: C95*

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:FAM24 33 82 1.5e-18 PFAM
Pfam:FAM24 78 119 2.8e-23 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,471,649 (GRCm39) L1472P probably damaging Het
Col18a1 C T 10: 76,906,809 (GRCm39) V1151M probably damaging Het
Crmp1 A T 5: 37,433,657 (GRCm39) D286V probably damaging Het
Ddx60 A T 8: 62,395,548 (GRCm39) I162F probably damaging Het
Fsd1 A G 17: 56,295,245 (GRCm39) Y78C probably damaging Het
Galc C T 12: 98,197,681 (GRCm39) V343I probably benign Het
Glis2 C T 16: 4,429,514 (GRCm39) R214C probably damaging Het
Gm14406 A T 2: 177,261,032 (GRCm39) C416S probably damaging Het
Gnat3 T C 5: 18,208,826 (GRCm39) S177P probably damaging Het
Higd1a C T 9: 121,678,749 (GRCm39) G80D possibly damaging Het
Hp1bp3 T C 4: 137,967,940 (GRCm39) V421A possibly damaging Het
Ipo11 A T 13: 107,033,767 (GRCm39) F238L probably benign Het
Med26 A T 8: 73,249,718 (GRCm39) F460L possibly damaging Het
Or5as1 T A 2: 86,980,169 (GRCm39) T279S possibly damaging Het
Osbp2 T C 11: 3,813,387 (GRCm39) I161V probably benign Het
Prr5 T C 15: 84,583,856 (GRCm39) V152A possibly damaging Het
Prx T A 7: 27,218,844 (GRCm39) I1115K probably benign Het
Ptpn22 A G 3: 103,810,690 (GRCm39) I708M probably benign Het
Robo3 T C 9: 37,340,847 (GRCm39) T120A probably damaging Het
Setd2 C A 9: 110,376,581 (GRCm39) S132* probably null Het
Slc9a1 A G 4: 133,149,454 (GRCm39) E760G probably benign Het
Slco1a7 A G 6: 141,700,155 (GRCm39) S126P probably benign Het
Stx16 A T 2: 173,934,202 (GRCm39) H135L probably damaging Het
Tas2r131 A T 6: 132,934,764 (GRCm39) L15Q probably damaging Het
Thoc2l T A 5: 104,668,366 (GRCm39) W963R probably damaging Het
Tmcc1 A G 6: 116,019,988 (GRCm39) L128P probably damaging Het
Tmem269 C A 4: 119,066,511 (GRCm39) M182I probably benign Het
Tnfaip8l2 A G 3: 95,047,726 (GRCm39) S46P probably damaging Het
Trim30c A G 7: 104,032,179 (GRCm39) probably benign Het
Unc13a C T 8: 72,114,469 (GRCm39) E184K probably benign Het
Wfs1 A T 5: 37,125,261 (GRCm39) C467* probably null Het
Zfp78 G A 7: 6,378,587 (GRCm39) G77D possibly damaging Het
Other mutations in Fam24b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03098:Fam24b UTSW 7 130,927,977 (GRCm39) missense probably benign 0.13
R0605:Fam24b UTSW 7 130,928,915 (GRCm39) splice site probably benign
R1594:Fam24b UTSW 7 130,928,025 (GRCm39) missense probably benign 0.01
R8023:Fam24b UTSW 7 130,927,869 (GRCm39) missense probably benign 0.06
R9223:Fam24b UTSW 7 130,927,869 (GRCm39) missense probably benign 0.01
R9299:Fam24b UTSW 7 130,927,949 (GRCm39) missense probably benign
R9337:Fam24b UTSW 7 130,927,949 (GRCm39) missense probably benign
R9437:Fam24b UTSW 7 130,927,893 (GRCm39) missense probably benign 0.25
R9561:Fam24b UTSW 7 130,927,877 (GRCm39) missense probably benign 0.01
Posted On 2013-06-28