Incidental Mutation 'IGL03098:Fam24b'
ID 452975
Institutional Source Beutler Lab
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: 0.069) question?
Stock # IGL03098 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130927673-130931245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130927977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 71 (S71G)
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: S71G

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033146
Gene: ENSMUSG00000030858
AA Change: S71G

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: S71G

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139545
Gene: ENSMUSG00000030858
AA Change: S71G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 92% (44/48)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Abca15 T C 7: 119,987,499 (GRCm39) probably null Het
Adcy4 T C 14: 56,019,038 (GRCm39) Q173R probably null Het
Arhgef19 A G 4: 140,974,879 (GRCm39) D113G possibly damaging Het
Btbd6 A G 12: 112,942,038 (GRCm39) E501G probably damaging Het
Btnl2 T C 17: 34,584,190 (GRCm39) V371A probably benign Het
Cd84 G T 1: 171,700,267 (GRCm39) R128L possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Dsg3 A T 18: 20,643,422 (GRCm39) probably benign Het
Efnb2 A T 8: 8,713,420 (GRCm39) probably benign Het
Flacc1 G T 1: 58,730,908 (GRCm39) H49Q probably benign Het
Hgd G A 16: 37,436,607 (GRCm39) C180Y probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kcmf1 A T 6: 72,826,567 (GRCm39) M1K probably null Het
Letm2 T A 8: 26,071,745 (GRCm39) T386S possibly damaging Het
Lvrn A T 18: 47,014,477 (GRCm39) probably null Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nid2 G A 14: 19,856,006 (GRCm39) D1244N probably damaging Het
Nvl G T 1: 180,921,471 (GRCm39) Q843K probably benign Het
Obi1 T C 14: 104,716,253 (GRCm39) I707V possibly damaging Het
Or1e30 T G 11: 73,678,529 (GRCm39) I255S probably benign Het
Pi4ka A T 16: 17,143,891 (GRCm39) I726N probably damaging Het
Rab25 A T 3: 88,449,567 (GRCm39) C209S probably damaging Het
Rgs6 A T 12: 83,032,150 (GRCm39) I21F probably damaging Het
Rnf10 T C 5: 115,410,426 (GRCm39) D16G probably damaging Het
Rnmt G A 18: 68,439,073 (GRCm39) V61M probably damaging Het
Rrs1 GCTC GC 1: 9,616,328 (GRCm39) probably null Het
Scd4 A T 19: 44,321,931 (GRCm39) M1L possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sptb A G 12: 76,668,273 (GRCm39) I608T probably damaging Het
Sstr5 A G 17: 25,710,251 (GRCm39) V326A probably benign Het
Sugct T C 13: 17,846,321 (GRCm39) D62G probably damaging Het
Thada C G 17: 84,641,569 (GRCm39) D1306H possibly damaging Het
Thap1 C G 8: 26,652,498 (GRCm39) P79A probably benign Het
Tra2a G A 6: 49,225,969 (GRCm39) S157L probably damaging Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Trim9 A G 12: 70,327,467 (GRCm39) I390T possibly damaging Het
Usp24 T C 4: 106,228,230 (GRCm39) V765A probably benign Het
Wdr90 C A 17: 26,078,961 (GRCm39) probably benign Het
Ybey A T 10: 76,304,078 (GRCm39) C41* probably null Het
Other mutations in Fam24b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Fam24b APN 7 130,927,903 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- GAAGATTTCCTTTTATCCATAGGTGCC -3'
(R):5'- TCTGGGTTTCACATGCATAGC -3'

Sequencing Primer
(F):5'- ATCCATAGGTGCCATGTCAG -3'
(R):5'- GTCACATGTATGATGGGTTCCAAC -3'
Posted On 2017-01-24