Incidental Mutation 'R7305:Faim2'
ID567274
Institutional Source Beutler Lab
Gene Symbol Faim2
Ensembl Gene ENSMUSG00000023011
Gene NameFas apoptotic inhibitory molecule 2
Synonymslifeguard, NMP25, Tmbim2, Lfg, 2900002L20Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #R7305 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location99497012-99528165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99513933 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 171 (I171N)
Ref Sequence ENSEMBL: ENSMUSP00000023750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023750] [ENSMUST00000231171]
Predicted Effect probably damaging
Transcript: ENSMUST00000023750
AA Change: I171N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011
AA Change: I171N

DomainStartEndE-ValueType
Pfam:Bax1-I 101 312 1.6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000231171
AA Change: I159N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: A mutation in this gene results in kidney abnormalities including enlargement and dilation. A reduced seizure threshold in response to pharmacological agents is also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik A T 10: 82,285,119 I4019K probably benign Het
9130011E15Rik A T 19: 45,892,121 M508K probably benign Het
Abhd16b A T 2: 181,493,416 D37V possibly damaging Het
Ankhd1 A G 18: 36,632,205 D87G Het
Ankrd31 A G 13: 96,878,971 S1583G probably damaging Het
Ankub1 T C 3: 57,692,517 probably benign Het
Apba3 A G 10: 81,271,233 D264G probably damaging Het
Asap1 G A 15: 64,130,250 T404M probably damaging Het
Cnot3 A T 7: 3,645,480 probably benign Het
Cxxc1 A G 18: 74,219,396 Y349C probably benign Het
Cyfip1 AGTGT AGT 7: 55,928,189 probably null Het
Cyp3a57 A G 5: 145,370,985 I184V probably benign Het
D130052B06Rik GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG GTCTACACTGTCCTG 11: 33,623,355 probably null Het
Dab1 T A 4: 104,713,790 D210E Het
Elavl1 G A 8: 4,325,199 probably benign Het
Emilin1 C T 5: 30,917,089 Q225* probably null Het
Eml6 G T 11: 29,777,258 A1288E probably benign Het
Eno1 T C 4: 150,245,339 probably null Het
Eprs C T 1: 185,379,701 R303C probably damaging Het
Eps15l1 G A 8: 72,373,034 A651V probably benign Het
Etl4 A T 2: 20,709,557 I156F probably damaging Het
Fam105a A G 15: 27,658,233 C184R probably benign Het
Fam135a T A 1: 24,030,858 N381I probably damaging Het
Fam160a1 G T 3: 85,730,524 P156Q probably damaging Het
Fam71d A G 12: 78,715,035 K158E possibly damaging Het
Gabrg3 T A 7: 56,735,085 M243L probably benign Het
Gm5134 A G 10: 76,000,399 I405V probably damaging Het
Gm6614 G A 6: 141,992,494 A253V probably damaging Het
Gm9376 A T 14: 118,267,356 K67* probably null Het
Grm8 A T 6: 27,761,355 I290K possibly damaging Het
Hao1 T A 2: 134,548,201 M73L probably benign Het
Herc1 A G 9: 66,461,868 D452G Het
Idh3b C A 2: 130,281,493 K192N possibly damaging Het
Igkv6-23 A G 6: 70,260,569 S63P probably benign Het
Itgb2 A C 10: 77,548,564 D173A probably damaging Het
Jmjd8 A T 17: 25,830,327 T255S probably benign Het
Lamc3 A C 2: 31,930,702 E1243A probably benign Het
Map1a A G 2: 121,299,458 T252A probably damaging Het
Mrgpra1 C A 7: 47,335,455 A159S probably benign Het
Ndst3 T C 3: 123,601,482 I500V possibly damaging Het
Nhsl1 A G 10: 18,531,686 T1523A possibly damaging Het
Nr2f1 A G 13: 78,195,179 I322T probably damaging Het
Nup210 T C 6: 91,087,966 E184G probably damaging Het
Obsl1 C T 1: 75,493,946 W1022* probably null Het
Olfr1250 T A 2: 89,656,502 H313L probably benign Het
Olfr166 T A 16: 19,487,699 I287N probably damaging Het
Olfr470 A T 7: 107,845,365 Y123N probably damaging Het
Olfr551 G T 7: 102,587,955 Q263K possibly damaging Het
Olfr802 A T 10: 129,682,280 I153N probably damaging Het
Olfr808 T A 10: 129,767,851 Y118* probably null Het
Oxr1 C T 15: 41,813,608 P187L not run Het
Parp8 A G 13: 116,894,925 L417P possibly damaging Het
Pdia6 A G 12: 17,274,508 Q120R probably benign Het
Ppp3cc T C 14: 70,240,803 N290S probably benign Het
Prdm5 C A 6: 65,831,260 S63R possibly damaging Het
Prr14l T C 5: 32,831,101 D350G probably benign Het
Pwwp2a T C 11: 43,717,051 L497S probably damaging Het
R3hdm2 A G 10: 127,476,678 N430D probably benign Het
Rad51ap2 A G 12: 11,457,343 N422S possibly damaging Het
Rbbp8 G A 18: 11,672,581 probably null Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,579,918 probably benign Het
Slc22a6 G A 19: 8,622,158 probably null Het
Slc28a3 T A 13: 58,566,231 E440V possibly damaging Het
Slc30a5 A T 13: 100,811,424 I482K probably damaging Het
Slco1a1 A T 6: 141,924,497 F305Y probably damaging Het
Slco4c1 T C 1: 96,828,965 N544S probably damaging Het
Smpd4 T A 16: 17,641,783 I656N probably damaging Het
Taok1 A T 11: 77,541,674 L771* probably null Het
Tmem231 T C 8: 111,915,295 D209G possibly damaging Het
Tmem25 A G 9: 44,795,408 probably null Het
Tmem79 T C 3: 88,333,411 T77A probably benign Het
Topbp1 A T 9: 103,328,637 T825S probably damaging Het
Trpm6 A T 19: 18,876,091 Q1825L probably benign Het
Uba1y T A Y: 821,348 D110E probably damaging Het
Utrn A T 10: 12,385,536 N3422K probably benign Het
Vmn1r219 A T 13: 23,163,144 M168L probably benign Het
Vmn2r62 T C 7: 42,764,811 H736R possibly damaging Het
Wdr1 T C 5: 38,540,092 H291R possibly damaging Het
Zan T C 5: 137,415,139 T3177A unknown Het
Zbtb21 T C 16: 97,951,295 H596R possibly damaging Het
Other mutations in Faim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01906:Faim2 APN 15 99514433 missense probably damaging 1.00
IGL02820:Faim2 APN 15 99521257 missense probably benign 0.02
IGL02989:Faim2 APN 15 99520362 splice site probably benign
R0827:Faim2 UTSW 15 99524736 missense probably benign
R1171:Faim2 UTSW 15 99500254 missense probably benign 0.05
R1678:Faim2 UTSW 15 99520336 missense possibly damaging 0.92
R1785:Faim2 UTSW 15 99512542 missense probably damaging 1.00
R2004:Faim2 UTSW 15 99500246 missense possibly damaging 0.87
R2063:Faim2 UTSW 15 99514433 missense probably damaging 1.00
R3401:Faim2 UTSW 15 99520348 missense probably damaging 0.98
R4242:Faim2 UTSW 15 99500201 missense probably damaging 1.00
R4664:Faim2 UTSW 15 99524700 critical splice donor site probably null
R4664:Faim2 UTSW 15 99524701 missense probably benign
R4665:Faim2 UTSW 15 99524700 critical splice donor site probably null
R4665:Faim2 UTSW 15 99524701 missense probably benign
R4719:Faim2 UTSW 15 99527579 critical splice donor site probably null
R4952:Faim2 UTSW 15 99521228 missense possibly damaging 0.51
R5973:Faim2 UTSW 15 99521251 missense probably benign
R7162:Faim2 UTSW 15 99521167 critical splice donor site probably null
R7601:Faim2 UTSW 15 99500266 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAAGGACAAGAGACTGG -3'
(R):5'- TGAACTGGAGTCAAATGGGC -3'

Sequencing Primer
(F):5'- GGCTTCATCCCACTGAGG -3'
(R):5'- AGTCAAATGGGCCAGCTC -3'
Posted On2019-06-26