Incidental Mutation 'R7636:Fam166a'
ID589939
Institutional Source Beutler Lab
Gene Symbol Fam166a
Ensembl Gene ENSMUSG00000026969
Gene Namefamily with sequence similarity 166, member A
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #R7636 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location25218745-25222280 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25218820 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 7 (H7L)
Ref Sequence ENSEMBL: ENSMUSP00000028346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028346] [ENSMUST00000043584] [ENSMUST00000043774] [ENSMUST00000114363]
Predicted Effect probably damaging
Transcript: ENSMUST00000028346
AA Change: H7L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969
AA Change: H7L

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 probably benign
Transcript: ENSMUST00000043774
SMART Domains Protein: ENSMUSP00000037603
Gene: ENSMUSG00000036770

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 103 145 9.5e-4 PFAM
Pfam:SHIPPO-rpt 226 255 1.4e-3 PFAM
Pfam:SHIPPO-rpt 265 291 1.4e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114363
SMART Domains Protein: ENSMUSP00000110003
Gene: ENSMUSG00000036770

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 48 79 2.8e-4 PFAM
Pfam:SHIPPO-rpt 110 136 1.2e-1 PFAM
Pfam:SHIPPO-rpt 152 200 3.5e-1 PFAM
Pfam:SHIPPO-rpt 210 248 1.9e-3 PFAM
Meta Mutation Damage Score 0.1642 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik C T 16: 17,117,837 E199K possibly damaging Het
4932415D10Rik T A 10: 82,295,139 D679V probably benign Het
Akap13 C A 7: 75,609,873 N748K probably benign Het
Aldh16a1 G T 7: 45,147,531 P58T unknown Het
Amhr2 T A 15: 102,452,458 C343S probably damaging Het
Ankrd17 A T 5: 90,232,380 M2483K possibly damaging Het
Ano3 A T 2: 110,682,703 L649* probably null Het
Apob T C 12: 8,009,516 I2666T possibly damaging Het
C1ql3 A T 2: 13,010,810 V13E probably benign Het
Casp12 A G 9: 5,358,344 I384V probably benign Het
Clcn1 A T 6: 42,291,334 K147* probably null Het
Ctnna1 T A 18: 35,223,473 N398K possibly damaging Het
Dcdc2a A T 13: 25,102,622 K176M probably damaging Het
Depdc5 T A 5: 32,917,983 S502T probably benign Het
Fam83e G A 7: 45,727,026 D388N probably damaging Het
Fbxl15 G A 19: 46,329,175 E99K probably benign Het
Fbxw2 T C 2: 34,812,944 T186A probably benign Het
Frem2 T A 3: 53,653,247 M1280L probably benign Het
Gbgt1 T A 2: 28,505,314 D321E probably damaging Het
Gsdmc2 T A 15: 63,828,192 T244S probably benign Het
Heatr5a C A 12: 51,888,196 G1675W probably damaging Het
Heatr5a G A 12: 51,952,558 L287F probably damaging Het
Hfm1 C A 5: 106,917,466 A116S probably benign Het
Insr A G 8: 3,258,709 I109T probably damaging Het
Itga4 A G 2: 79,313,832 I688V probably benign Het
Lipe A G 7: 25,388,617 M49T probably benign Het
Lrriq3 A G 3: 155,188,150 Y496C probably damaging Het
Lyst T C 13: 13,616,747 probably null Het
Megf10 T A 18: 57,276,989 I614N possibly damaging Het
Mkx A G 18: 7,000,630 I104T possibly damaging Het
Mrgpra4 C A 7: 47,980,973 L293F possibly damaging Het
Olfm2 A G 9: 20,668,297 V386A possibly damaging Het
Olfr1234 A T 2: 89,363,239 Y63* probably null Het
Olfr317 A T 11: 58,732,447 N239K possibly damaging Het
Olfr605 C A 7: 103,442,833 D97Y probably damaging Het
Pkd2l1 G T 19: 44,191,431 D113E possibly damaging Het
Rab11fip2 A T 19: 59,942,885 I39K possibly damaging Het
Rab1b A T 19: 5,100,782 V99E probably damaging Het
Rad54l2 A T 9: 106,720,387 L140Q probably damaging Het
Repin1 T C 6: 48,596,365 F76S probably benign Het
Robo1 A G 16: 72,563,727 D9G Het
Scn3a A G 2: 65,497,689 L819P probably damaging Het
Scn7a A T 2: 66,743,828 N150K possibly damaging Het
Sh2d3c T C 2: 32,725,011 S38P probably benign Het
Sin3b A T 8: 72,747,734 K549* probably null Het
Sorl1 A G 9: 42,092,334 F222S possibly damaging Het
Tmem147 A T 7: 30,728,301 probably null Het
Tmem161b C A 13: 84,222,418 probably benign Het
Tmem179 C T 12: 112,510,743 probably null Het
Tubg2 A T 11: 101,160,087 I213F probably damaging Het
Zfhx3 T C 8: 108,946,809 I1497T probably benign Het
Zfp128 A T 7: 12,890,112 M136L probably benign Het
Zzz3 G A 3: 152,427,652 A116T probably benign 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
R0368:Fam166a UTSW 2 25220673 missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TCTTTGAACCAGAGATGCTGC -3'
(R):5'- CAGAGTTTTCCTGTCCCAGAGC -3'

Sequencing Primer
(F):5'- CTGCAAGATGGGAGTGCTCAC -3'
(R):5'- AGAGCTCTTCATCCCTGGTG -3'
Posted On2019-10-24