Incidental Mutation 'R1594:Fam24b'
ID 175563
Institutional Source Beutler Lab
Gene Symbol Fam24b
Ensembl Gene ENSMUSG00000030858
Gene Name family with sequence similarity 24 member B
Synonyms 1700007K09Rik
MMRRC Submission 039631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1594 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130927673-130931245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 130928025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 55 (Y55D)
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: Y55D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000033146
Gene: ENSMUSG00000030858
AA Change: Y55D

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: Y55D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139545
Gene: ENSMUSG00000030858
AA Change: Y55D

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 G A 16: 30,946,205 (GRCm39) A264V probably benign Het
Adam17 A G 12: 21,390,471 (GRCm39) probably null Het
Adcy10 A G 1: 165,352,602 (GRCm39) N479D probably benign Het
C2cd2l A G 9: 44,228,070 (GRCm39) S84P probably damaging Het
Capn13 A G 17: 73,658,474 (GRCm39) V198A probably benign Het
Cblc G A 7: 19,526,471 (GRCm39) S206F probably damaging Het
Ccdc7b A T 8: 129,904,838 (GRCm39) T159S possibly damaging Het
Clpx A G 9: 65,231,552 (GRCm39) T546A probably damaging Het
Col18a1 A G 10: 76,948,870 (GRCm39) V214A possibly damaging Het
Csgalnact1 A T 8: 68,811,284 (GRCm39) V462E probably damaging Het
Cts6 G A 13: 61,346,181 (GRCm39) T202I probably damaging Het
Cwf19l2 A G 9: 3,430,973 (GRCm39) Y435C probably benign Het
D630003M21Rik T A 2: 158,053,550 (GRCm39) Q646L probably damaging Het
E2f2 A G 4: 135,914,141 (GRCm39) Q297R possibly damaging Het
Eef1d T C 15: 75,768,195 (GRCm39) E189G probably damaging Het
Fam114a2 A C 11: 57,404,066 (GRCm39) probably null Het
Gimap6 T C 6: 48,679,125 (GRCm39) T304A probably benign Het
Gm11232 T C 4: 71,675,572 (GRCm39) E63G possibly damaging Het
Hbs1l A G 10: 21,227,922 (GRCm39) M152V probably benign Het
Herc3 C A 6: 58,864,569 (GRCm39) probably benign Het
Hmx2 A G 7: 131,157,231 (GRCm39) D115G probably benign Het
Igsf3 C A 3: 101,358,393 (GRCm39) Y761* probably null Het
Kbtbd13 A G 9: 65,298,901 (GRCm39) W12R probably benign Het
Kif2c C A 4: 117,035,385 (GRCm39) R21L probably benign Het
Kmt2c T C 5: 25,519,876 (GRCm39) N2078S probably benign Het
Mgst3 T A 1: 167,201,379 (GRCm39) Y102F probably damaging Het
Mov10 G T 3: 104,702,727 (GRCm39) T946N probably damaging Het
Nbeal1 T A 1: 60,344,450 (GRCm39) I2317N possibly damaging Het
Nid2 T A 14: 19,831,329 (GRCm39) I741N probably benign Het
Nlrp9a G A 7: 26,269,932 (GRCm39) W786* probably null Het
Or8g20 A C 9: 39,396,042 (GRCm39) I166S probably benign Het
Or9a7 T C 6: 40,521,281 (GRCm39) I211V probably benign Het
Pi4ka G T 16: 17,191,283 (GRCm39) probably benign Het
Plcb4 A G 2: 135,812,310 (GRCm39) probably benign Het
Psg16 A G 7: 16,827,748 (GRCm39) T144A probably damaging Het
Sec24b A G 3: 129,785,000 (GRCm39) V1002A probably benign Het
Shank1 A T 7: 43,976,647 (GRCm39) K582* probably null Het
Slc22a7 T C 17: 46,748,957 (GRCm39) D120G possibly damaging Het
Slco6c1 T A 1: 96,990,163 (GRCm39) T676S probably benign Het
Sulf2 A G 2: 165,926,367 (GRCm39) probably benign Het
Tgm1 T C 14: 55,946,976 (GRCm39) D344G probably damaging Het
Tle4 C T 19: 14,430,970 (GRCm39) W604* probably null Het
Tmco3 T C 8: 13,342,052 (GRCm39) S109P probably damaging Het
Unc13d T G 11: 115,959,538 (GRCm39) D647A probably benign Het
Usp19 T C 9: 108,375,721 (GRCm39) V887A probably damaging Het
Vmn2r49 A T 7: 9,710,550 (GRCm39) D727E probably damaging Het
Ypel1 A G 16: 16,899,985 (GRCm39) H72R probably damaging Het
Zfp407 A G 18: 84,227,456 (GRCm39) V2051A probably benign Het
Zfp438 A G 18: 5,213,515 (GRCm39) L481P possibly damaging Het
Zfp850 C A 7: 27,688,816 (GRCm39) R464L probably benign Het
Zfp985 T C 4: 147,667,537 (GRCm39) V135A probably benign 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
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'- CCCTTATGCTACAAAGGCAGGGTG -3'
(R):5'- GCCAGTGACTTTGGGGAAAGTGAC -3'

Sequencing Primer
(F):5'- AAAGGCAGGGTGGCAGG -3'
(R):5'- ATCTGGGTTTCACATGCATAGC -3'
Posted On 2014-04-24