Incidental Mutation 'R0368:Fam166a'
ID 30305
Institutional Source Beutler Lab
Gene Symbol Fam166a
Ensembl Gene ENSMUSG00000026969
Gene Name family with sequence similarity 166, member A
Synonyms
MMRRC Submission 038574-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R0368 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 25218745-25222280 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25220673 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 164 (D164E)
Ref Sequence ENSEMBL: ENSMUSP00000028346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028346] [ENSMUST00000043584]
AlphaFold Q9D4K5
Predicted Effect probably benign
Transcript: ENSMUST00000028346
AA Change: D164E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969
AA Change: D164E

DomainStartEndE-ValueType
Pfam:DUF2475 13 71 8.1e-16 PFAM
low complexity region 130 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043584
SMART Domains Protein: ENSMUSP00000042342
Gene: ENSMUSG00000036752

DomainStartEndE-ValueType
Tubulin 47 244 1.04e-67 SMART
Tubulin_C 246 383 3.89e-49 SMART
low complexity region 428 445 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145607
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 9,008,350 K2333* probably null Het
Aox4 C T 1: 58,213,079 L38F probably benign Het
Arhgef15 T C 11: 68,954,693 E111G probably damaging Het
Atp8a2 A T 14: 59,860,212 I789N probably damaging Het
Cdca2 A G 14: 67,700,347 S286P possibly damaging Het
Chrnb1 T A 11: 69,784,757 K457M probably damaging Het
Clec2g A G 6: 128,980,261 I61V possibly damaging Het
Cyb5r3 G A 15: 83,158,792 A233V probably benign Het
Cyp4a10 T A 4: 115,525,377 L278* probably null Het
Dnmt1 T C 9: 20,941,757 E56G probably damaging Het
Fam160b1 A G 19: 57,368,578 T34A possibly damaging Het
Fbln5 A G 12: 101,809,714 probably null Het
G3bp1 T C 11: 55,498,626 F383L probably damaging Het
Gabrr3 A G 16: 59,440,596 D289G probably damaging Het
Gpr45 T C 1: 43,033,016 L273P probably damaging Het
Hkdc1 T C 10: 62,411,707 E125G probably null Het
Il25 A G 14: 54,935,174 probably null Het
Itfg1 A T 8: 85,764,407 W298R probably damaging Het
Kank1 A T 19: 25,410,603 K547* probably null Het
Lama5 G A 2: 180,181,230 R2748* probably null Het
Lrp4 C T 2: 91,477,734 T508I probably damaging Het
Map3k10 C T 7: 27,663,360 V434I probably damaging Het
Map3k6 A G 4: 133,252,659 M1265V probably benign Het
Mocs3 C T 2: 168,231,682 P350S probably benign Het
Msh4 T A 3: 153,888,825 Y113F probably damaging Het
Naip2 A C 13: 100,161,782 I582S probably benign Het
Nrip1 A G 16: 76,294,016 S218P probably damaging Het
Olfr1281 T C 2: 111,328,787 Y123H probably damaging Het
Olfr1287 T C 2: 111,449,788 I216T probably benign Het
Olig1 C T 16: 91,270,652 S259F probably damaging Het
Osbpl9 A G 4: 109,066,932 V499A probably damaging Het
Pafah2 T C 4: 134,422,491 V371A probably benign Het
Pkp1 T A 1: 135,875,683 M712L probably benign Het
Pkp1 T C 1: 135,886,852 S244G probably benign Het
Ppp1r3a T C 6: 14,718,960 T652A probably benign Het
Rab21 A T 10: 115,298,890 V108E probably damaging Het
Rab5b C T 10: 128,682,903 R120Q probably benign Het
Scd2 G A 19: 44,301,246 V227I probably benign Het
Sema5b T A 16: 35,628,100 V82E probably damaging Het
Sema6a G A 18: 47,290,045 probably null Het
Slc13a2 A T 11: 78,404,800 L80* probably null Het
Slc1a5 C T 7: 16,782,178 P93L probably damaging Het
Slc35b2 T C 17: 45,566,463 V172A probably benign Het
Slfn8 A G 11: 83,017,132 L195P probably damaging Het
Smox G A 2: 131,522,158 S320N probably damaging Het
Sptan1 T C 2: 29,993,915 V589A probably benign Het
Stim2 G A 5: 54,110,140 probably null Het
V1ra8 A G 6: 90,202,962 D49G probably damaging Het
Vmn1r233 A T 17: 20,994,607 V27D possibly damaging Het
Vmn2r98 A T 17: 19,065,827 K196* probably null Het
Wdr77 T C 3: 105,962,066 probably null Het
Other mutations in Fam166a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Fam166a APN 2 25220333 missense possibly damaging 0.90
IGL01712:Fam166a APN 2 25218792 unclassified probably benign
IGL03056:Fam166a APN 2 25221355 missense possibly damaging 0.73
IGL03232:Fam166a APN 2 25221739 nonsense probably null
R0761:Fam166a UTSW 2 25220123 unclassified probably benign
R1997:Fam166a UTSW 2 25220205 missense probably damaging 1.00
R2106:Fam166a UTSW 2 25220651 missense probably damaging 0.99
R4575:Fam166a UTSW 2 25220288 missense probably benign 0.00
R4576:Fam166a UTSW 2 25220288 missense probably benign 0.00
R4577:Fam166a UTSW 2 25220288 missense probably benign 0.00
R4578:Fam166a UTSW 2 25220288 missense probably benign 0.00
R5829:Fam166a UTSW 2 25218857 critical splice donor site probably null
R5896:Fam166a UTSW 2 25220566 missense probably benign
R6618:Fam166a UTSW 2 25220623 missense probably benign 0.02
R6905:Fam166a UTSW 2 25220479 missense probably benign 0.00
R7178:Fam166a UTSW 2 25220240 missense probably damaging 0.99
R7636:Fam166a UTSW 2 25218820 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCCCTACATGGCTCAAGGGCTAC -3'
(R):5'- GCAGTCGTTGGAATCTGCCTACATC -3'

Sequencing Primer
(F):5'- TCAAGGGCTACCCTGTCTG -3'
(R):5'- TGGAATCTGCCTACATCTAGTG -3'
Posted On 2013-04-24