Incidental Mutation 'RF009:Fam171b'
ID 603029
Institutional Source Beutler Lab
Gene Symbol Fam171b
Ensembl Gene ENSMUSG00000048388
Gene Name family with sequence similarity 171, member B
Synonyms D430039N05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # RF009 (G1)
Quality Score 217.468
Status Not validated
Chromosome 2
Chromosomal Location 83642980-83713830 bp(+) (GRCm39)
Type of Mutation small insertion (2 aa in frame mutation)
DNA Base Change (assembly) GCAGCA to GCAGCACCAGCA at 83643224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030445D17Rik ACACACACCCGC AC 4: 136,189,661 (GRCm39) probably null Het
AI182371 A G 2: 34,979,209 (GRCm39) V153A possibly damaging Het
AI837181 CGG CGGTGG 19: 5,475,262 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGTCGGCG 18: 36,693,975 (GRCm39) probably benign Het
Apoc2 C T 7: 19,405,767 (GRCm39) M71I probably benign Het
Arhgap17 CTGTTGTTG CTGTTG 7: 122,886,085 (GRCm39) probably benign Het
Atrn C A 2: 130,748,842 (GRCm39) T121K probably benign Het
Btnl12 T C 16: 37,674,841 (GRCm39) D207G probably benign Het
Ccdc170 C CCAG 10: 4,511,030 (GRCm39) probably benign Het
Cckbr GCA G 7: 105,083,893 (GRCm39) probably null Het
Cdk13 T C 13: 17,978,329 (GRCm39) D303G unknown Het
Cfap65 C A 1: 74,944,806 (GRCm39) R1477L probably damaging Het
Chd2 A G 7: 73,169,410 (GRCm39) S37P possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,176,127 (GRCm39) I259V probably benign Het
Csnk1d A T 11: 120,862,453 (GRCm39) N275K possibly damaging Het
Dmxl1 A C 18: 50,026,461 (GRCm39) R1856S probably damaging Het
Dnah5 T C 15: 28,204,165 (GRCm39) V14A probably benign Het
Edc4 G A 8: 106,615,812 (GRCm39) S729N probably benign Het
Emilin3 T C 2: 160,751,012 (GRCm39) S246G probably benign Het
Epc2 T G 2: 49,422,249 (GRCm39) probably null Het
Exoc6 T A 19: 37,560,068 (GRCm39) F101I probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,419,435 (GRCm39) probably benign Het
Flywch1 CTCACCCACTCCTGGTGT CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT 17: 23,981,135 (GRCm39) probably null Het
Gab3 TTC TTCCTC X: 74,043,598 (GRCm39) probably benign Het
Gab3 CTT CTTATT X: 74,043,630 (GRCm39) probably null Het
Gabpa C A 16: 84,641,224 (GRCm39) Q93K probably benign Het
Gabre GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC X: 71,314,318 (GRCm39) probably benign Het
Gabre GGCTCA GGCTCAAGCTCA X: 71,314,319 (GRCm39) probably benign Het
H2-T3 TCCCGAAGAAC TC 17: 36,500,294 (GRCm39) probably benign Het
Htr5a A G 5: 28,047,859 (GRCm39) D138G probably damaging Het
Ifi207 G A 1: 173,556,558 (GRCm39) P727S probably benign Het
Ifna13 T A 4: 88,562,145 (GRCm39) S160C probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Klri2 GGAG GG 6: 129,710,737 (GRCm39) probably null Het
Lce1m GTTGCTGCCACTG GTTGCTGCCACTGTTGCTGCCACTG 3: 92,925,438 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Lrch4 A G 5: 137,635,805 (GRCm39) probably null Het
Lrrc2 TTGATTCGGTTCACC T 9: 110,810,744 (GRCm39) probably null Het
Map1a GCTCCAGC GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC 2: 121,136,782 (GRCm39) probably benign Het
Mettl25 T C 10: 105,669,100 (GRCm39) probably benign Het
Mex3b A G 7: 82,516,968 (GRCm39) D37G probably damaging Het
Mon1a T A 9: 107,778,433 (GRCm39) V219E probably damaging Het
Myh3 TTACG TTACGTACG 11: 66,977,183 (GRCm39) probably null Het
Myh3 GATTA GATTAATTA 11: 66,977,181 (GRCm39) probably null Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myo5b T A 18: 74,777,070 (GRCm39) C377S probably damaging Het
Nefh ACTTGGCCTCAGCTGGGG ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG 11: 4,890,997 (GRCm39) probably benign Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Ntn5 T C 7: 45,342,684 (GRCm39) probably null Het
Oog2 T C 4: 143,921,855 (GRCm39) V255A probably benign Het
Or5ac15 T A 16: 58,940,274 (GRCm39) H53L probably damaging Het
Or8b37 A T 9: 37,959,043 (GRCm39) H175L probably damaging Het
Pdgfd C A 9: 6,288,624 (GRCm39) L93M probably damaging Het
Pgls G T 8: 72,045,107 (GRCm39) V83L probably damaging Het
Pigw C A 11: 84,767,987 (GRCm39) Q447H probably damaging Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Poc1a C A 9: 106,172,417 (GRCm39) L253M possibly damaging Het
Ppl T A 16: 4,915,795 (GRCm39) E589D probably benign Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Prx T C 7: 27,218,385 (GRCm39) F1101S probably damaging Het
Rffl A G 11: 82,736,598 (GRCm39) V26A probably benign Het
Scube3 T A 17: 28,387,371 (GRCm39) L923Q probably damaging Het
Setd2 C T 9: 110,379,779 (GRCm39) P1198L probably damaging Het
Shank2 C A 7: 143,965,308 (GRCm39) A972E possibly damaging Het
Slc10a6 A G 5: 103,756,858 (GRCm39) L302P probably damaging Het
Slc29a3 C T 10: 60,586,340 (GRCm39) G42D probably benign Het
Spart T C 3: 55,035,027 (GRCm39) V471A probably benign Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Sspo T A 6: 48,436,919 (GRCm39) Y1284* probably null Het
Supt20 AGCAGC AGCAGCCGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Tcof1 GCA GCACCA 18: 60,968,815 (GRCm39) probably benign Het
Tff1 CTTCCTG C 17: 31,383,901 (GRCm39) probably benign Het
Tmprss13 ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC 9: 45,239,762 (GRCm39) probably benign Het
Tnfrsf25 T C 4: 152,204,081 (GRCm39) W341R probably damaging Het
Trappc9 GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,136 (GRCm39) probably benign Het
Trav8d-1 T A 14: 53,016,207 (GRCm39) L31Q probably damaging Het
Ttc23 A T 7: 67,375,777 (GRCm39) I452F possibly damaging Het
Uimc1 T C 13: 55,198,598 (GRCm39) E526G possibly damaging Het
Ulbp1 T A 10: 7,397,405 (GRCm39) K233N unknown Het
Usp17ld A T 7: 102,899,495 (GRCm39) V479E probably damaging Het
Utrn T TGTTACCC 10: 12,509,689 (GRCm39) probably null Het
Vmn1r9 C T 6: 57,048,465 (GRCm39) S180L probably benign Het
Wdr97 GAGGAGGA G 15: 76,247,367 (GRCm39) probably null Het
Zfp598 CACC CACCCCTACC 17: 24,899,761 (GRCm39) probably benign 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
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
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'- CATCACCTTGCAGAGCACTTG -3'
(R):5'- TAAGAATCCCGGGAAGCCTG -3'

Sequencing Primer
(F):5'- TCACGTGCGCGAGGATG -3'
(R):5'- TGATGCGATCGCTGGCAC -3'
Posted On 2019-12-04