Incidental Mutation 'R5390:Fam161b'
ID425534
Institutional Source Beutler Lab
Gene Symbol Fam161b
Ensembl Gene ENSMUSG00000021234
Gene Namefamily with sequence similarity 161, member B
Synonyms
MMRRC Submission 042962-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #R5390 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location84345309-84361833 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84348634 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 512 (V512M)
Ref Sequence ENSEMBL: ENSMUSP00000070407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021659] [ENSMUST00000045931] [ENSMUST00000065536] [ENSMUST00000222606]
Predicted Effect probably damaging
Transcript: ENSMUST00000021659
AA Change: V512M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234
AA Change: V512M

DomainStartEndE-ValueType
low complexity region 57 65 N/A INTRINSIC
low complexity region 93 107 N/A INTRINSIC
Pfam:UPF0564 168 535 5.3e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045931
SMART Domains Protein: ENSMUSP00000045550
Gene: ENSMUSG00000042472

DomainStartEndE-ValueType
ZnF_C2H2 219 243 1.04e-3 SMART
ZnF_C2H2 249 273 6.88e-4 SMART
ZnF_C2H2 279 303 1.13e-4 SMART
ZnF_C2H2 309 333 1.45e-2 SMART
ZnF_C2H2 339 361 5.59e-4 SMART
low complexity region 400 417 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065536
AA Change: V512M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234
AA Change: V512M

DomainStartEndE-ValueType
low complexity region 57 65 N/A INTRINSIC
low complexity region 93 107 N/A INTRINSIC
Pfam:UPF0564 168 535 8.3e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133230
Predicted Effect probably benign
Transcript: ENSMUST00000222606
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,577,706 probably benign Het
Anxa4 G A 6: 86,753,883 T104M probably damaging Het
BC048562 G T 9: 108,436,578 W9L probably damaging Het
Cachd1 T A 4: 100,981,006 M822K probably damaging Het
Clec4g C A 8: 3,718,441 V97L probably benign Het
Ddx19a G A 8: 110,980,631 Q176* probably null Het
Eml6 T C 11: 29,760,096 H1413R probably damaging Het
Glcci1 A T 6: 8,537,835 Q151L probably benign Het
Gm10801 TC TCGAC 2: 98,663,806 probably benign Het
Gpnmb A T 6: 49,047,841 D269V probably damaging Het
Gpx3 A T 11: 54,909,549 D191V probably damaging Het
Grm4 C T 17: 27,434,738 C491Y probably damaging Het
H2-M10.4 T A 17: 36,460,641 H215L probably damaging Het
Hrc T A 7: 45,335,485 L20Q probably damaging Het
Hsd17b6 T A 10: 127,991,439 M255L probably benign Het
Hydin A T 8: 110,595,467 I4584L probably benign Het
Ints5 T A 19: 8,896,567 I630K possibly damaging Het
Kctd10 A G 5: 114,365,703 I296T possibly damaging Het
Ltv1 G A 10: 13,182,359 R234C probably damaging Het
Macf1 A G 4: 123,471,753 S1507P probably damaging Het
Megf8 G A 7: 25,340,289 G936D possibly damaging Het
Ms4a4d T C 19: 11,548,640 probably null Het
Net1 C T 13: 3,893,379 A3T probably benign Het
Nlrp2 T C 7: 5,300,909 M206V probably benign Het
Olfr1437 T A 19: 12,322,141 I229F probably damaging Het
Olfr3 C T 2: 36,812,432 R220H probably benign Het
Pcyox1l T C 18: 61,699,362 I205V probably benign Het
Pigo A G 4: 43,019,645 probably null Het
Pla2g6 A T 15: 79,289,693 S590T possibly damaging Het
Pwp2 T C 10: 78,177,771 T539A possibly damaging Het
Rag1 T C 2: 101,642,734 T688A probably benign Het
Senp7 A G 16: 56,169,916 T676A probably benign Het
Slc26a6 T C 9: 108,861,300 probably benign Het
Slc45a2 C T 15: 11,027,785 T480I probably damaging Het
Sorbs2 A G 8: 45,819,741 H653R probably damaging Het
Stk3 T A 15: 35,114,560 K67* probably null Het
Tctn2 A ACC 5: 124,624,335 probably benign Homo
Ttc30a2 A T 2: 75,977,286 L294Q probably damaging Het
Ttn T C 2: 76,710,051 Y34197C probably damaging Het
Ufc1 A C 1: 171,290,173 L56R probably damaging Het
Usp34 T A 11: 23,444,202 probably null Het
Vnn3 T A 10: 23,851,585 M1K probably null Het
Zfp653 C A 9: 22,057,803 probably null Het
Other mutations in Fam161b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Fam161b APN 12 84361751 unclassified probably benign
IGL00900:Fam161b APN 12 84355969 missense probably benign 0.05
IGL00905:Fam161b APN 12 84357685 missense probably benign 0.00
IGL01123:Fam161b APN 12 84357664 missense probably benign 0.00
IGL02156:Fam161b APN 12 84354753 missense probably benign 0.00
IGL02630:Fam161b APN 12 84353914 missense probably benign 0.03
IGL02670:Fam161b APN 12 84357594 missense probably benign 0.00
IGL03160:Fam161b APN 12 84353825 missense probably benign 0.05
R0560:Fam161b UTSW 12 84357718 missense probably damaging 0.96
R0569:Fam161b UTSW 12 84348639 missense probably damaging 1.00
R1834:Fam161b UTSW 12 84348778 splice site probably benign
R2070:Fam161b UTSW 12 84356428 missense probably benign 0.00
R3784:Fam161b UTSW 12 84361690 critical splice donor site probably null
R3786:Fam161b UTSW 12 84361690 critical splice donor site probably null
R4697:Fam161b UTSW 12 84348558 unclassified probably benign
R5247:Fam161b UTSW 12 84357750 missense probably damaging 1.00
R5668:Fam161b UTSW 12 84356350 missense probably damaging 0.96
R6891:Fam161b UTSW 12 84354780 missense probably damaging 1.00
R7189:Fam161b UTSW 12 84348646 missense probably damaging 1.00
X0019:Fam161b UTSW 12 84354973 missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AAGCTAAGCAGAGGCATTCC -3'
(R):5'- CAGAGAAGGTCCTACGATTGC -3'

Sequencing Primer
(F):5'- TAAGCAGAGGCATTCCCGTGTAC -3'
(R):5'- CAGAGAAGGTCCTACGATTGCTTATG -3'
Posted On2016-08-04