Incidental Mutation 'R9437:Fam24b'
ID 713325
Institutional Source Beutler Lab
Gene Symbol Fam24b
Ensembl Gene ENSMUSG00000030858
Gene Name family with sequence similarity 24 member B
Synonyms 1700007K09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R9437 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 130927673-130931245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130927893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 99 (C99S)
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 benign
Transcript: ENSMUST00000033146
AA Change: C99S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033146
Gene: ENSMUSG00000030858
AA Change: C99S

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 benign
Transcript: ENSMUST00000188899
AA Change: C99S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139545
Gene: ENSMUSG00000030858
AA Change: C99S

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T C 17: 32,553,608 (GRCm39) S371G probably benign Het
Bdp1 A G 13: 100,162,158 (GRCm39) S2255P probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Copa G A 1: 171,931,712 (GRCm39) R321H possibly damaging Het
Cyp2b23 A T 7: 26,372,199 (GRCm39) D415E possibly damaging Het
Dcun1d2 T C 8: 13,331,004 (GRCm39) D42G probably benign Het
Ebf4 T A 2: 130,202,005 (GRCm39) S325T probably benign Het
Ergic2 T C 6: 148,097,562 (GRCm39) E137G probably benign Het
Etl4 T C 2: 20,813,872 (GRCm39) S1304P probably benign Het
Fat4 A G 3: 38,945,417 (GRCm39) T1437A probably benign Het
Fgd5 A G 6: 91,964,627 (GRCm39) T287A probably benign Het
Fscb G T 12: 64,519,708 (GRCm39) A586E unknown Het
Gm2244 A T 14: 19,599,038 (GRCm39) I86N probably damaging Het
Hnrnph3 T A 10: 62,854,627 (GRCm39) R55* probably null Het
Kcnk5 A C 14: 20,192,468 (GRCm39) I231S probably damaging Het
Krt10 A G 11: 99,276,390 (GRCm39) M87T probably benign Het
Ly6c2 C G 15: 74,983,535 (GRCm39) probably benign Het
Map4 C A 9: 109,864,155 (GRCm39) T460K possibly damaging Het
Mok A G 12: 110,774,659 (GRCm39) C388R probably benign Het
Ms4a3 T C 19: 11,607,065 (GRCm39) D200G possibly damaging Het
Ncapd2 A G 6: 125,153,655 (GRCm39) Y687H probably damaging Het
Nrp1 A G 8: 129,187,108 (GRCm39) T385A probably benign Het
Or2w25 T C 11: 59,504,195 (GRCm39) M135T possibly damaging Het
Or56a41 A T 7: 104,739,963 (GRCm39) Y294* probably null Het
Osbp2 A G 11: 3,664,581 (GRCm39) S131P probably damaging Het
Pcdhga3 G A 18: 37,808,144 (GRCm39) R199H probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pigx G T 16: 31,918,310 (GRCm39) D26E probably benign Het
Pkn3 T C 2: 29,973,267 (GRCm39) I363T possibly damaging Het
Psg16 T A 7: 16,827,715 (GRCm39) Y133N probably damaging Het
Pygl A G 12: 70,246,925 (GRCm39) I407T probably damaging Het
Rc3h2 G A 2: 37,272,841 (GRCm39) A745V possibly damaging Het
Srgap1 T C 10: 121,636,777 (GRCm39) E703G probably benign Het
Susd4 T C 1: 182,681,697 (GRCm39) probably null Het
Tbpl1 T C 10: 22,587,838 (GRCm39) N37S probably damaging Het
Tex264 T C 9: 106,559,096 (GRCm39) I77V possibly damaging Het
Other mutations in Fam24b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Fam24b APN 7 130,927,903 (GRCm39) nonsense probably null
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
R9561:Fam24b UTSW 7 130,927,877 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAGGCAGAGATTGTTTTCACTATTG -3'
(R):5'- AGCTCACTGAGAAGGGAAATTC -3'

Sequencing Primer
(F):5'- AACACTATAGAAATTGGCTTG -3'
(R):5'- CTGAGAAGGGAAATTCTAAGCTTG -3'
Posted On 2022-05-16