Incidental Mutation 'R7487:Fam170b'
ID 580280
Institutional Source Beutler Lab
Gene Symbol Fam170b
Ensembl Gene ENSMUSG00000078127
Gene Name family with sequence similarity 170, member B
Synonyms 4922501K12Rik
MMRRC Submission 045561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7487 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 32555938-32558746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32557776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 204 (C204S)
Ref Sequence ENSEMBL: ENSMUSP00000100529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104926]
AlphaFold E9PXT9
Predicted Effect probably damaging
Transcript: ENSMUST00000104926
AA Change: C204S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100529
Gene: ENSMUSG00000078127
AA Change: C204S

DomainStartEndE-ValueType
low complexity region 71 96 N/A INTRINSIC
ZnF_C2H2 202 223 1.81e1 SMART
low complexity region 241 252 N/A INTRINSIC
SCOP:d1lsha3 280 312 6e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,629 (GRCm39) D606V probably damaging Het
1700009N14Rik T A 4: 39,450,929 (GRCm39) V45E probably damaging Het
2510009E07Rik C T 16: 21,472,479 (GRCm39) V74M probably damaging Het
Abca2 C T 2: 25,327,915 (GRCm39) T739M probably benign Het
Abra T C 15: 41,732,949 (GRCm39) E39G probably damaging Het
Adam34 A T 8: 44,104,191 (GRCm39) C485S probably damaging Het
Add2 G T 6: 86,070,432 (GRCm39) V175F possibly damaging Het
Alk T A 17: 72,256,893 (GRCm39) K655N probably benign Het
Ap3m1 A G 14: 21,088,107 (GRCm39) V317A probably benign Het
Astn1 A G 1: 158,438,352 (GRCm39) probably null Het
Atm A T 9: 53,435,654 (GRCm39) Y219N probably benign Het
Cep128 C T 12: 90,966,404 (GRCm39) A1068T probably benign Het
Cep20 T C 16: 14,128,968 (GRCm39) D85G probably benign Het
Cnksr3 T C 10: 7,085,097 (GRCm39) Q250R probably benign Het
Cst7 A G 2: 150,419,624 (GRCm39) T97A probably benign Het
Ctps1 G A 4: 120,415,997 (GRCm39) L209F probably damaging Het
Cyp2d10 A T 15: 82,288,793 (GRCm39) F230I probably benign Het
Daam2 T C 17: 49,793,510 (GRCm39) N336D probably benign Het
Dchs2 T C 3: 83,263,613 (GRCm39) S3294P probably damaging Het
Dhx36 G T 3: 62,391,623 (GRCm39) N574K possibly damaging Het
Dock10 G T 1: 80,562,765 (GRCm39) Q533K probably benign Het
Dync2h1 A G 9: 7,132,041 (GRCm39) S1589P probably benign Het
Enpp3 T A 10: 24,681,821 (GRCm39) Y295F probably benign Het
Esrrg T A 1: 187,878,620 (GRCm39) Y234N probably benign Het
Fadd A C 7: 144,134,462 (GRCm39) V141G probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam186a T A 15: 99,840,017 (GRCm39) I2076F possibly damaging Het
Fdxacb1 G A 9: 50,681,519 (GRCm39) V147I possibly damaging Het
Frem2 C A 3: 53,561,970 (GRCm39) V846F probably benign Het
Fry G A 5: 150,338,039 (GRCm39) S1449N possibly damaging Het
Gucy1b2 A G 14: 62,685,672 (GRCm39) F98L probably damaging Het
Hps1 T C 19: 42,744,700 (GRCm39) Y658C probably damaging Het
Igkv3-9 T A 6: 70,565,506 (GRCm39) L35Q probably damaging Het
Irx2 A G 13: 72,778,739 (GRCm39) Y101C probably damaging Het
Kcnj11 G T 7: 45,748,265 (GRCm39) R353S probably benign Het
Kyat3 C T 3: 142,431,955 (GRCm39) Q228* probably null Het
Lama3 T A 18: 12,552,294 (GRCm39) D415E probably benign Het
Lcn3 G A 2: 25,656,174 (GRCm39) probably null Het
Lin7b T C 7: 45,019,364 (GRCm39) E68G possibly damaging Het
Lmbr1 T A 5: 29,459,262 (GRCm39) K379M probably benign Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Lrrc37a T G 11: 103,389,045 (GRCm39) T2127P unknown Het
Map4 A G 9: 109,856,783 (GRCm39) D151G probably damaging Het
Marchf1 A T 8: 66,908,726 (GRCm39) T149S probably benign Het
Msh4 A T 3: 153,569,147 (GRCm39) F809I probably damaging Het
Muc16 G A 9: 18,496,095 (GRCm39) P6699S possibly damaging Het
Mxi1 A T 19: 53,360,088 (GRCm39) D270V probably damaging Het
Myh6 A T 14: 55,190,953 (GRCm39) C907* probably null Het
Myo18b T C 5: 112,982,299 (GRCm39) R1145G possibly damaging Het
Nkx2-6 A C 14: 69,409,389 (GRCm39) N47H probably benign Het
Nol7 G A 13: 43,552,076 (GRCm39) A66T probably damaging Het
Ntrk3 T C 7: 77,900,461 (GRCm39) N626S probably damaging Het
Nwd1 A G 8: 73,393,266 (GRCm39) Y77C unknown Het
Or12d17 G T 17: 37,777,457 (GRCm39) R120L probably damaging Het
Or12k5 A C 2: 36,894,786 (GRCm39) V280G probably damaging Het
Or8c14-ps1 A G 9: 38,101,356 (GRCm39) S112G probably damaging Het
Or8j3b A T 2: 86,205,475 (GRCm39) Y94N probably damaging Het
Or9s23 G A 1: 92,501,517 (GRCm39) G208D possibly damaging Het
Otop3 A G 11: 115,235,826 (GRCm39) D486G probably benign Het
Pak1ip1 A G 13: 41,162,731 (GRCm39) K178R probably benign Het
Pcsk1 G A 13: 75,259,002 (GRCm39) G259S probably benign Het
Pde6a A G 18: 61,383,031 (GRCm39) D338G probably damaging Het
Pias4 A T 10: 80,999,806 (GRCm39) D82E probably benign Het
Plekha5 C A 6: 140,516,059 (GRCm39) Q771K probably benign Het
Plekhh3 C A 11: 101,056,405 (GRCm39) A397S possibly damaging Het
Prg4 G T 1: 150,331,656 (GRCm39) T339N unknown Het
Prss22 A T 17: 24,216,971 (GRCm39) I3N probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rspo2 T C 15: 42,941,510 (GRCm39) T138A probably benign Het
Rtcb C T 10: 85,789,333 (GRCm39) G70S probably benign Het
Selenov A T 7: 27,989,803 (GRCm39) S234T probably damaging Het
Shtn1 T C 19: 58,992,292 (GRCm39) T429A probably damaging Het
Slc4a3 G T 1: 75,530,021 (GRCm39) R622L probably benign Het
Smc2 T C 4: 52,478,448 (GRCm39) I1015T probably damaging Het
Spata9 G T 13: 76,115,959 (GRCm39) V3F possibly damaging Het
Tlr4 T C 4: 66,842,659 (GRCm39) I105T probably benign Het
Trav6d-4 A T 14: 52,991,096 (GRCm39) Y47F possibly damaging Het
Ttn A T 2: 76,657,377 (GRCm39) I12450N unknown Het
Umad1 G T 6: 8,270,560 (GRCm39) A21S probably damaging Het
Unc5a G A 13: 55,144,362 (GRCm39) R229H probably benign Het
Vmn1r216 A T 13: 23,284,030 (GRCm39) M238L probably damaging Het
Vps16 T A 2: 130,280,977 (GRCm39) C255* probably null Het
Wdr89 A G 12: 75,679,388 (GRCm39) F289L probably benign Het
Zfp180 A T 7: 23,805,525 (GRCm39) H648L probably damaging Het
Zfp735 A G 11: 73,581,154 (GRCm39) K64E possibly damaging Het
Zfp990 G A 4: 145,264,157 (GRCm39) C385Y probably damaging Het
Zswim3 G T 2: 164,662,135 (GRCm39) S205I probably damaging Het
Other mutations in Fam170b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03093:Fam170b APN 14 32,557,482 (GRCm39) missense probably damaging 1.00
R0279:Fam170b UTSW 14 32,556,025 (GRCm39) start gained probably benign
R0594:Fam170b UTSW 14 32,558,271 (GRCm39) missense unknown
R1496:Fam170b UTSW 14 32,557,588 (GRCm39) missense probably damaging 1.00
R1675:Fam170b UTSW 14 32,557,359 (GRCm39) nonsense probably null
R1766:Fam170b UTSW 14 32,557,843 (GRCm39) missense possibly damaging 0.94
R2240:Fam170b UTSW 14 32,557,825 (GRCm39) missense probably damaging 1.00
R6361:Fam170b UTSW 14 32,558,028 (GRCm39) missense unknown
R6828:Fam170b UTSW 14 32,557,915 (GRCm39) missense probably damaging 1.00
R7575:Fam170b UTSW 14 32,558,155 (GRCm39) missense unknown
R8962:Fam170b UTSW 14 32,557,336 (GRCm39) missense probably benign 0.14
R9102:Fam170b UTSW 14 32,557,404 (GRCm39) missense probably damaging 1.00
R9631:Fam170b UTSW 14 32,557,641 (GRCm39) missense probably damaging 1.00
Z1176:Fam170b UTSW 14 32,557,761 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCAGGAAGCCCCTTATC -3'
(R):5'- CTGGTACATTCACTACTGTCCG -3'

Sequencing Primer
(F):5'- TGAGTTCATCAAGCGTCAGC -3'
(R):5'- GAAAGGCTCTGCTCCTCTTCTACAG -3'
Posted On 2019-10-07