Incidental Mutation 'R3798:Fam43b'
ID 272835
Institutional Source Beutler Lab
Gene Symbol Fam43b
Ensembl Gene ENSMUSG00000078235
Gene Name family with sequence similarity 43, member B
Synonyms OTTMUSG00000009974
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R3798 (G1)
Quality Score 103
Status Not validated
Chromosome 4
Chromosomal Location 138121403-138123769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 138122409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 304 (R304G)
Ref Sequence ENSEMBL: ENSMUSP00000100649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105032]
AlphaFold A2AM80
Predicted Effect noncoding transcript
Transcript: ENSMUST00000062902
Predicted Effect probably benign
Transcript: ENSMUST00000105032
AA Change: R304G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100649
Gene: ENSMUSG00000078235
AA Change: R304G

DomainStartEndE-ValueType
Pfam:PID_2 71 265 3.4e-75 PFAM
low complexity region 306 315 N/A INTRINSIC
Meta Mutation Damage Score 0.0639 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T A 7: 131,033,694 (GRCm39) V237E probably damaging Het
Adgrf3 T C 5: 30,401,821 (GRCm39) I736V possibly damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Bbs9 T C 9: 22,550,065 (GRCm39) S21P probably damaging Het
Btbd16 A G 7: 130,378,870 (GRCm39) N5D probably benign Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cyld T C 8: 89,461,558 (GRCm39) L662P probably damaging Het
Eif2ak4 C T 2: 118,304,564 (GRCm39) R1530C probably damaging Het
Ip6k3 T C 17: 27,364,080 (GRCm39) I323V probably benign Het
Itpr1 T C 6: 108,358,231 (GRCm39) L599P probably damaging Het
Lancl1 G A 1: 67,073,303 (GRCm39) T60I probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lrrc8d T A 5: 105,960,355 (GRCm39) I255N probably benign Het
Ndst1 A G 18: 60,846,238 (GRCm39) F24L possibly damaging Het
Notch1 A T 2: 26,368,630 (GRCm39) V553E probably benign Het
Nsd3 T A 8: 26,188,873 (GRCm39) W69R probably damaging Het
Or2g25 T A 17: 37,970,997 (GRCm39) I76F probably damaging Het
Pcm1 T C 8: 41,711,051 (GRCm39) I107T possibly damaging Het
Pcnx3 G A 19: 5,728,696 (GRCm39) Q422* probably null Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Ptbp3 T C 4: 59,546,166 (GRCm39) I9V probably benign Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slx4ip T A 2: 136,909,543 (GRCm39) D109E probably benign Het
Tas2r118 T C 6: 23,969,822 (GRCm39) K80E possibly damaging Het
Ttn T C 2: 76,725,087 (GRCm39) probably benign Het
Vmn2r72 T C 7: 85,387,285 (GRCm39) S760G probably benign Het
Vmn2r79 A G 7: 86,651,402 (GRCm39) Y267C possibly damaging Het
Wdr90 T C 17: 26,069,472 (GRCm39) S1194G probably benign Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Other mutations in Fam43b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2128:Fam43b UTSW 4 138,123,299 (GRCm39) missense possibly damaging 0.87
R2258:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R2281:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R2413:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R2416:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R2417:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R3705:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R3715:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R3797:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R3854:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R3856:Fam43b UTSW 4 138,122,409 (GRCm39) missense probably benign 0.25
R4639:Fam43b UTSW 4 138,123,278 (GRCm39) missense possibly damaging 0.66
R4868:Fam43b UTSW 4 138,123,108 (GRCm39) missense probably benign 0.32
R5129:Fam43b UTSW 4 138,122,783 (GRCm39) nonsense probably null
R6176:Fam43b UTSW 4 138,122,522 (GRCm39) missense probably damaging 0.99
R7296:Fam43b UTSW 4 138,123,152 (GRCm39) missense probably damaging 1.00
R8280:Fam43b UTSW 4 138,123,281 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAGGCGACCATTACAGTGAC -3'
(R):5'- AGTCTTCACCTGGGTCTACC -3'

Sequencing Primer
(F):5'- GACCATTACAGTGACCGCGAG -3'
(R):5'- TTCAGCGACTTCAAGCGG -3'
Posted On 2015-03-25