Incidental Mutation 'R4060:Fam162a'
ID 315831
Institutional Source Beutler Lab
Gene Symbol Fam162a
Ensembl Gene ENSMUSG00000003955
Gene Name family with sequence similarity 162, member A
Synonyms 2310056P07Rik
MMRRC Submission 041618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4060 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35864214-35891931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35864451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 38 (R38K)
Ref Sequence ENSEMBL: ENSMUSP00000156171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004057] [ENSMUST00000042203] [ENSMUST00000231351]
AlphaFold Q9D6U8
Predicted Effect probably benign
Transcript: ENSMUST00000004057
AA Change: R129K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000004057
Gene: ENSMUSG00000003955
AA Change: R129K

DomainStartEndE-ValueType
Pfam:DUF1075 10 155 1.8e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042203
SMART Domains Protein: ENSMUSP00000040852
Gene: ENSMUSG00000034379

DomainStartEndE-ValueType
WD40 28 67 5.95e-7 SMART
WD40 70 109 1.28e-11 SMART
WD40 112 151 4.87e-12 SMART
WD40 154 193 5.22e-12 SMART
WD40 196 236 1.21e-7 SMART
WD40 239 281 5.47e-6 SMART
WD40 284 325 1.01e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231351
AA Change: R38K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232390
Meta Mutation Damage Score 0.2614 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Abca8b A T 11: 109,848,027 (GRCm39) M756K probably benign Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdan1 T C 2: 120,556,224 (GRCm39) I681V probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Cfh T C 1: 140,047,664 (GRCm39) I488M possibly damaging Het
Cntn2 T A 1: 132,453,634 (GRCm39) L346F probably damaging Het
Creb3l2 T C 6: 37,311,484 (GRCm39) H435R probably benign Het
Dmbt1 A G 7: 130,675,932 (GRCm39) probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Foxo1 A G 3: 52,252,583 (GRCm39) R249G probably damaging Het
Grm6 A G 11: 50,744,051 (GRCm39) E174G probably damaging Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hypk A G 2: 121,284,160 (GRCm39) probably benign Het
Ifih1 T C 2: 62,429,143 (GRCm39) T932A possibly damaging Het
Igfbp1 C A 11: 7,148,091 (GRCm39) P45T probably damaging Het
Ik A G 18: 36,881,943 (GRCm39) K142E probably damaging Het
Ltbp3 T C 19: 5,792,348 (GRCm39) L27P probably benign Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Or13a20 T C 7: 140,232,033 (GRCm39) I47T probably damaging Het
Or1j14 A G 2: 36,417,426 (GRCm39) M1V probably null Het
Or7g19 T C 9: 18,856,346 (GRCm39) V134A probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Pcdhb20 A G 18: 37,639,217 (GRCm39) E581G probably damaging Het
Rnf146 T C 10: 29,223,363 (GRCm39) I174M probably damaging Het
Serpinb9g G A 13: 33,679,089 (GRCm39) V320I probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc23a3 T G 1: 75,109,964 (GRCm39) probably benign Het
Ssrp1 T G 2: 84,871,978 (GRCm39) Y401D probably damaging Het
Tas2r109 A T 6: 132,957,148 (GRCm39) W261R probably damaging Het
Tas2r144 T C 6: 42,192,563 (GRCm39) V101A possibly damaging Het
Tead1 T A 7: 112,475,269 (GRCm39) probably null Het
Tiam2 A G 17: 3,479,255 (GRCm39) S663G probably benign Het
Trbv20 T G 6: 41,165,195 (GRCm39) probably benign Het
Tspan9 T C 6: 128,011,135 (GRCm39) I19M probably benign Het
Ttbk2 T A 2: 120,579,465 (GRCm39) E552D probably benign Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Other mutations in Fam162a
AlleleSourceChrCoordTypePredicted EffectPPH Score
Balance UTSW 16 35,864,451 (GRCm39) missense probably benign 0.09
R6911:Fam162a UTSW 16 35,866,747 (GRCm39) critical splice donor site probably null
R6993:Fam162a UTSW 16 35,870,215 (GRCm39) missense probably damaging 0.99
R7014:Fam162a UTSW 16 35,870,302 (GRCm39) missense probably damaging 1.00
R7464:Fam162a UTSW 16 35,891,863 (GRCm39) missense probably damaging 1.00
R7658:Fam162a UTSW 16 35,866,770 (GRCm39) nonsense probably null
R7678:Fam162a UTSW 16 35,870,307 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCTGTGCAAAATACATGTCTGC -3'
(R):5'- ATTGTAGAGAGGCCGCACATG -3'

Sequencing Primer
(F):5'- CATGTCTGCAAAGTGAGTCTCAG -3'
(R):5'- CTGTGTATTTCTCTCCCGGGAG -3'
Posted On 2015-05-15