Incidental Mutation 'R8252:Fam171b'
ID 640165
Institutional Source Beutler Lab
Gene Symbol Fam171b
Ensembl Gene ENSMUSG00000048388
Gene Name family with sequence similarity 171, member B
Synonyms D430039N05Rik
MMRRC Submission 067678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R8252 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 83642980-83713830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83708586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 363 (I363V)
Ref Sequence ENSEMBL: ENSMUSP00000062702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051454]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051454
AA Change: I363V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: I363V

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: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,861,284 (GRCm39) probably benign Het
Ano4 A G 10: 88,816,881 (GRCm39) I644T probably damaging Het
Arhgap18 T A 10: 26,730,932 (GRCm39) D203E probably benign Het
Ascc3 T A 10: 50,518,706 (GRCm39) M337K probably benign Het
Atg13 G C 2: 91,510,699 (GRCm39) P343A probably benign Het
Cacna1c C T 6: 118,634,335 (GRCm39) V1058I Het
Cd180 A G 13: 102,842,504 (GRCm39) T517A probably benign Het
Cd1d2 A C 3: 86,894,375 (GRCm39) I48L probably benign Het
Cdh19 C T 1: 110,817,615 (GRCm39) C709Y probably benign Het
Chst10 T C 1: 38,923,433 (GRCm39) D51G probably benign Het
Clec2g G A 6: 128,958,335 (GRCm39) E184K probably benign Het
Col19a1 T A 1: 24,319,048 (GRCm39) H1014L probably benign Het
Fam135b T A 15: 71,404,872 (GRCm39) H58L probably benign Het
Hecw1 C A 13: 14,515,425 (GRCm39) G236W probably damaging Het
Htra3 A G 5: 35,810,305 (GRCm39) M459T probably benign Het
Iglc2 A T 16: 19,017,520 (GRCm39) C27* probably null Het
Il36b A T 2: 24,048,825 (GRCm39) T77S possibly damaging Het
Kif1b A T 4: 149,358,262 (GRCm39) N135K probably damaging Het
Krt5 A T 15: 101,620,794 (GRCm39) I151N probably damaging Het
Lama4 A T 10: 38,936,142 (GRCm39) M606L probably benign Het
Lgr6 T A 1: 134,931,215 (GRCm39) S280C probably null Het
Msh3 T A 13: 92,357,569 (GRCm39) T967S probably damaging Het
Ndufb4 T C 16: 37,474,637 (GRCm39) T29A probably benign Het
Nfe2l1 T C 11: 96,710,058 (GRCm39) M724V probably benign Het
Nudt12 T C 17: 59,318,089 (GRCm39) Y52C probably damaging Het
Nutm1 G T 2: 112,082,174 (GRCm39) Q301K probably damaging Het
Or2t46 T A 11: 58,471,958 (GRCm39) I96N probably damaging Het
Or4c102 A G 2: 88,423,011 (GRCm39) R288G probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Or6e1 T A 14: 54,519,704 (GRCm39) Y216F possibly damaging Het
Pcdh9 T C 14: 94,126,086 (GRCm39) Y28C probably damaging Het
Pcdha11 G C 18: 37,140,590 (GRCm39) V740L possibly damaging Het
Pkd1l2 T C 8: 117,767,472 (GRCm39) T1273A probably benign Het
Pla2g4a T C 1: 149,727,058 (GRCm39) D574G probably damaging Het
Prrc2b A T 2: 32,109,392 (GRCm39) Q1719L possibly damaging Het
Psap A G 10: 60,113,511 (GRCm39) probably benign Het
Pwwp3a A G 10: 80,077,694 (GRCm39) I656V probably benign Het
Rab11fip2 C T 19: 59,925,422 (GRCm39) S265N probably benign Het
Rnf10 A T 5: 115,398,373 (GRCm39) D53E probably benign Het
Scgb2b11 T C 7: 31,908,764 (GRCm39) E112G probably benign Het
Scml4 T C 10: 42,800,100 (GRCm39) Y85H noncoding transcript Het
Setd5 T A 6: 113,127,916 (GRCm39) Y1290N probably benign Het
Sgk1 T A 10: 21,873,298 (GRCm39) C375S probably damaging Het
Sik2 A G 9: 50,828,415 (GRCm39) V209A possibly damaging Het
Sipa1l2 A T 8: 126,195,410 (GRCm39) V776D probably damaging Het
Slamf1 T A 1: 171,594,796 (GRCm39) M1K probably null Het
Slc26a7 T C 4: 14,621,415 (GRCm39) probably benign Het
Spg11 G T 2: 121,918,820 (GRCm39) probably benign Het
Sry C A Y: 2,663,298 (GRCm39) A121S possibly damaging Het
Sspo C T 6: 48,462,386 (GRCm39) T3719I probably damaging Het
Tcap T C 11: 98,275,171 (GRCm39) S102P probably benign Het
Thap7 T C 16: 17,346,486 (GRCm39) R166G probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Trim8 A G 19: 46,504,059 (GRCm39) Y537C probably damaging Het
Ubr4 T A 4: 139,200,528 (GRCm39) M4692K unknown Het
Uvssa A G 5: 33,549,523 (GRCm39) S395G probably benign Het
Vgll4 G T 6: 114,867,695 (GRCm39) T52K probably damaging Het
Vmn2r7 A G 3: 64,600,527 (GRCm39) L548P probably benign Het
Vmn2r92 T A 17: 18,387,134 (GRCm39) S158T probably damaging Het
Wdr70 A T 15: 8,072,337 (GRCm39) probably benign Het
Zbtb48 A T 4: 152,105,344 (GRCm39) C463S probably damaging 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
R5178:Fam171b UTSW 2 83,710,331 (GRCm39) missense probably damaging 1.00
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
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'- GTCTGTCTCATCCAGGGTGAAA -3'
(R):5'- TCATGTGTATATATGTGCATGTCTGA -3'

Sequencing Primer
(F):5'- GTCTCATCCAGGGTGAAACAAAACTG -3'
(R):5'- ATTGCAGCTTCCGTAAGAGC -3'
Posted On 2020-07-28