Incidental Mutation 'R5178:Fam171b'
ID 399446
Institutional Source Beutler Lab
Gene Symbol Fam171b
Ensembl Gene ENSMUSG00000048388
Gene Name family with sequence similarity 171, member B
Synonyms D430039N05Rik
MMRRC Submission 042758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R5178 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 83642980-83713830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83710331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 668 (F668L)
Ref Sequence ENSEMBL: ENSMUSP00000062702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051454]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051454
AA Change: F668L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: F668L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 43 61 N/A INTRINSIC
Pfam:UPF0560 80 591 4.3e-101 PFAM
Pfam:UPF0560 583 821 6.7e-49 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 G T 13: 23,606,819 (GRCm39) A94E possibly damaging Het
Carmil2 G T 8: 106,423,521 (GRCm39) G1207V probably damaging Het
Cndp2 A T 18: 84,693,153 (GRCm39) N202K probably benign Het
Cyp2c66 A G 19: 39,159,473 (GRCm39) Y308C probably damaging Het
Dhx29 T G 13: 113,069,134 (GRCm39) S155A possibly damaging Het
Dnah7b T G 1: 46,397,376 (GRCm39) F3936V possibly damaging Het
Dsg1b G A 18: 20,530,560 (GRCm39) G405E probably damaging Het
Exo5 A T 4: 120,778,734 (GRCm39) probably null Het
Gemin5 A T 11: 58,037,344 (GRCm39) S624T probably benign Het
Gpc2 C A 5: 138,273,867 (GRCm39) V444L possibly damaging Het
Hephl1 T A 9: 14,997,468 (GRCm39) K399N probably damaging Het
Lair1 G A 7: 4,013,488 (GRCm39) T82I possibly damaging Het
Lhx1 G T 11: 84,411,214 (GRCm39) A155E possibly damaging Het
Maip1 G A 1: 57,454,849 (GRCm39) D278N probably benign Het
Mcm4 T A 16: 15,453,167 (GRCm39) D174V probably benign Het
Mcph1 T A 8: 18,657,342 (GRCm39) D60E probably damaging Het
Mmp17 T A 5: 129,672,122 (GRCm39) W132R probably damaging Het
Or4p7 C T 2: 88,221,819 (GRCm39) T76I possibly damaging Het
Or7e174 T A 9: 20,012,488 (GRCm39) C144* probably null Het
Pds5a T C 5: 65,821,218 (GRCm39) T169A probably damaging Het
Pfkm A G 15: 98,029,396 (GRCm39) N697D probably benign Het
Pira1 T A 7: 3,742,396 (GRCm39) K44* probably null Het
Ppwd1 A T 13: 104,356,943 (GRCm39) S191T probably benign Het
Ranbp2 T A 10: 58,312,607 (GRCm39) M1109K probably benign Het
Robo4 T C 9: 37,319,256 (GRCm39) W535R probably damaging Het
Rsf1 A G 7: 97,311,079 (GRCm39) D603G possibly damaging Het
Slc22a26 T C 19: 7,767,540 (GRCm39) T289A possibly damaging Het
Sp2 A G 11: 96,846,664 (GRCm39) F554L probably benign Het
Sp4 A G 12: 118,225,624 (GRCm39) V580A possibly damaging Het
Tbc1d19 T A 5: 54,046,667 (GRCm39) S413T possibly damaging Het
Tecta T C 9: 42,286,481 (GRCm39) D725G probably damaging Het
Tmem200a T A 10: 25,870,277 (GRCm39) Q4H probably benign Het
Tpx2 T A 2: 152,717,469 (GRCm39) I122N probably benign Het
Trgc4 A G 13: 19,528,932 (GRCm39) probably benign Het
Ube4b T C 4: 149,427,449 (GRCm39) M900V probably damaging Het
Vmn1r87 G T 7: 12,865,792 (GRCm39) A165E possibly damaging Het
Vmn2r95 A G 17: 18,660,337 (GRCm39) T250A probably benign Het
Wasf1 G A 10: 40,813,672 (GRCm39) R518H unknown Het
Zfhx2 A T 14: 55,312,232 (GRCm39) F154Y probably benign Het
Zfp729a A G 13: 67,785,764 (GRCm39) probably null Het
Zfp976 A G 7: 42,261,925 (GRCm39) probably null Het
Other mutations in Fam171b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Fam171b APN 2 83,707,072 (GRCm39) nonsense probably null
IGL01309:Fam171b APN 2 83,709,791 (GRCm39) nonsense probably null
IGL01515:Fam171b APN 2 83,710,577 (GRCm39) missense probably damaging 0.99
IGL01604:Fam171b APN 2 83,709,944 (GRCm39) missense possibly damaging 0.50
IGL01729:Fam171b APN 2 83,685,881 (GRCm39) splice site probably benign
IGL01784:Fam171b APN 2 83,710,031 (GRCm39) missense possibly damaging 0.83
P0028:Fam171b UTSW 2 83,683,783 (GRCm39) missense probably damaging 1.00
R1203:Fam171b UTSW 2 83,643,313 (GRCm39) missense probably benign 0.05
R1530:Fam171b UTSW 2 83,710,533 (GRCm39) missense probably damaging 1.00
R1539:Fam171b UTSW 2 83,710,442 (GRCm39) missense probably benign 0.00
R1564:Fam171b UTSW 2 83,710,628 (GRCm39) missense probably damaging 1.00
R1858:Fam171b UTSW 2 83,683,725 (GRCm39) missense probably benign
R1940:Fam171b UTSW 2 83,643,218 (GRCm39) small deletion probably benign
R2131:Fam171b UTSW 2 83,710,202 (GRCm39) missense probably damaging 0.97
R3746:Fam171b UTSW 2 83,709,944 (GRCm39) missense probably damaging 1.00
R3777:Fam171b UTSW 2 83,708,605 (GRCm39) missense probably benign 0.03
R3840:Fam171b UTSW 2 83,710,406 (GRCm39) missense possibly damaging 0.76
R4920:Fam171b UTSW 2 83,710,703 (GRCm39) missense possibly damaging 0.73
R5007:Fam171b UTSW 2 83,685,853 (GRCm39) nonsense probably null
R5282:Fam171b UTSW 2 83,683,949 (GRCm39) critical splice donor site probably null
R5544:Fam171b UTSW 2 83,685,871 (GRCm39) missense possibly damaging 0.58
R5614:Fam171b UTSW 2 83,643,217 (GRCm39) missense probably damaging 0.99
R5786:Fam171b UTSW 2 83,708,580 (GRCm39) missense probably benign 0.38
R6190:Fam171b UTSW 2 83,707,042 (GRCm39) missense probably benign
R6247:Fam171b UTSW 2 83,709,552 (GRCm39) missense probably damaging 1.00
R6309:Fam171b UTSW 2 83,690,804 (GRCm39) missense probably damaging 0.99
R6324:Fam171b UTSW 2 83,709,608 (GRCm39) nonsense probably null
R7127:Fam171b UTSW 2 83,710,110 (GRCm39) missense probably benign 0.25
R7201:Fam171b UTSW 2 83,708,574 (GRCm39) missense probably damaging 1.00
R7223:Fam171b UTSW 2 83,708,574 (GRCm39) missense probably damaging 1.00
R7689:Fam171b UTSW 2 83,709,732 (GRCm39) missense probably benign 0.38
R7904:Fam171b UTSW 2 83,683,849 (GRCm39) missense probably damaging 0.97
R8069:Fam171b UTSW 2 83,643,218 (GRCm39) small deletion probably benign
R8236:Fam171b UTSW 2 83,710,550 (GRCm39) missense probably damaging 0.97
R8252:Fam171b UTSW 2 83,708,586 (GRCm39) missense probably benign 0.00
R8458:Fam171b UTSW 2 83,690,864 (GRCm39) missense probably benign 0.21
R8463:Fam171b UTSW 2 83,683,801 (GRCm39) missense probably damaging 1.00
R8546:Fam171b UTSW 2 83,685,795 (GRCm39) missense probably damaging 1.00
R8706:Fam171b UTSW 2 83,690,864 (GRCm39) missense probably benign 0.21
R8792:Fam171b UTSW 2 83,643,103 (GRCm39) missense probably damaging 1.00
R9187:Fam171b UTSW 2 83,710,365 (GRCm39) missense probably damaging 1.00
R9225:Fam171b UTSW 2 83,710,386 (GRCm39) missense probably damaging 1.00
R9266:Fam171b UTSW 2 83,683,926 (GRCm39) missense probably damaging 1.00
R9353:Fam171b UTSW 2 83,707,028 (GRCm39) missense probably benign 0.13
R9532:Fam171b UTSW 2 83,710,212 (GRCm39) missense probably damaging 1.00
R9549:Fam171b UTSW 2 83,643,199 (GRCm39) missense probably damaging 0.99
R9621:Fam171b UTSW 2 83,643,109 (GRCm39) missense probably damaging 1.00
R9625:Fam171b UTSW 2 83,683,914 (GRCm39) missense probably damaging 1.00
R9784:Fam171b UTSW 2 83,690,787 (GRCm39) missense probably damaging 0.99
RF001:Fam171b UTSW 2 83,643,230 (GRCm39) small insertion probably benign
RF009:Fam171b UTSW 2 83,643,224 (GRCm39) small insertion probably benign
RF011:Fam171b UTSW 2 83,643,239 (GRCm39) small insertion probably benign
RF011:Fam171b UTSW 2 83,643,217 (GRCm39) small insertion probably benign
RF013:Fam171b UTSW 2 83,643,239 (GRCm39) small insertion probably benign
RF027:Fam171b UTSW 2 83,643,220 (GRCm39) small insertion probably benign
RF029:Fam171b UTSW 2 83,643,236 (GRCm39) small insertion probably benign
RF036:Fam171b UTSW 2 83,643,236 (GRCm39) small insertion probably benign
RF055:Fam171b UTSW 2 83,643,220 (GRCm39) small insertion probably benign
RF056:Fam171b UTSW 2 83,643,240 (GRCm39) small insertion probably benign
RF060:Fam171b UTSW 2 83,643,221 (GRCm39) small insertion probably benign
RF063:Fam171b UTSW 2 83,643,240 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TGTACTTGAAGGTCAGCAGAGC -3'
(R):5'- TCTTCCAGGTAAAGGATCTTGGG -3'

Sequencing Primer
(F):5'- GAGCTTGCCATCCCAGAC -3'
(R):5'- GCTGATGCATGCTCTTGATGAAC -3'
Posted On 2016-07-06