Incidental Mutation 'R5282:Fam171b'
ID 402805
Institutional Source Beutler Lab
Gene Symbol Fam171b
Ensembl Gene ENSMUSG00000048388
Gene Name family with sequence similarity 171, member B
Synonyms D430039N05Rik
MMRRC Submission 042867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R5282 (G1)
Quality Score 221
Status Not validated
Chromosome 2
Chromosomal Location 83642980-83713830 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 83683949 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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148184
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,439 (GRCm39) M1K probably null Het
2810021J22Rik T C 11: 58,771,166 (GRCm39) L216S possibly damaging Het
4933405O20Rik G A 7: 50,249,220 (GRCm39) E85K possibly damaging Het
Agrn A G 4: 156,257,492 (GRCm39) F1153L probably damaging Het
Cbx8 A G 11: 118,929,742 (GRCm39) S284P probably damaging Het
Cep128 A G 12: 91,305,893 (GRCm39) L170P probably damaging Het
Cyp4f14 T A 17: 33,126,959 (GRCm39) T324S probably damaging Het
Daw1 G T 1: 83,170,419 (GRCm39) V244L probably benign Het
Eef2kmt A G 16: 5,063,222 (GRCm39) V306A probably benign Het
Enah A T 1: 181,763,293 (GRCm39) probably null Het
Fsip2 C T 2: 82,808,925 (GRCm39) T1748I possibly damaging Het
Gabrg2 C T 11: 41,862,559 (GRCm39) G175D probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hmcn1 G T 1: 150,458,047 (GRCm39) N33K probably damaging Het
Incenp T A 19: 9,855,770 (GRCm39) E514V unknown Het
Kank3 T C 17: 34,036,917 (GRCm39) S74P probably benign Het
Lrriq1 G T 10: 103,051,206 (GRCm39) N515K probably benign Het
Mfsd13b G A 7: 120,591,056 (GRCm39) D266N probably damaging Het
Neto1 T C 18: 86,422,998 (GRCm39) Y152H probably damaging Het
Nub1 C A 5: 24,900,533 (GRCm39) F145L probably benign Het
Nufip1 T C 14: 76,351,715 (GRCm39) probably null Het
Pard6g T A 18: 80,123,116 (GRCm39) V50E probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Rapgef5 A C 12: 117,703,379 (GRCm39) N431T probably damaging Het
Rassf9 A T 10: 102,381,205 (GRCm39) T196S probably damaging Het
Rrp12 T C 19: 41,865,029 (GRCm39) Y764C probably benign Het
Slfn8 T C 11: 82,908,550 (GRCm39) probably null Het
Smox T A 2: 131,363,026 (GRCm39) V265D probably damaging Het
Sult1b1 T C 5: 87,678,510 (GRCm39) I105V probably benign Het
Sycp2 T C 2: 178,045,554 (GRCm39) D22G probably damaging Het
Tbck G A 3: 132,456,977 (GRCm39) M630I possibly damaging Het
Tenm4 G C 7: 96,486,538 (GRCm39) G965R possibly damaging Het
Trappc10 G A 10: 78,023,694 (GRCm39) T1258I probably damaging Het
Tssk1 G A 16: 17,713,123 (GRCm39) G303S probably benign Het
Tstd2 T C 4: 46,120,461 (GRCm39) Y313C probably damaging Het
Usp42 G A 5: 143,707,401 (GRCm39) T260M probably damaging Het
Wdr43 T A 17: 71,955,772 (GRCm39) V479E probably damaging Het
Xpo7 G A 14: 70,921,171 (GRCm39) T599I probably damaging Het
Zfp553 A G 7: 126,836,013 (GRCm39) K523E 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
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'- ATGACATCGTCAGTCGCCAG -3'
(R):5'- TGTGTCAACCTGAATTTCACCAC -3'

Sequencing Primer
(F):5'- ATCGTCAGTCGCCAGTACCTG -3'
(R):5'- CTCCAGAACTGTATGGAATCGCTG -3'
Posted On 2016-07-22