Incidental Mutation 'R7664:Ranbp6'
ID591833
Institutional Source Beutler Lab
Gene Symbol Ranbp6
Ensembl Gene ENSMUSG00000074909
Gene NameRAN binding protein 6
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #R7664 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location29808400-29812974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29812076 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 292 (V292A)
Ref Sequence ENSEMBL: ENSMUSP00000100503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099525]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099525
AA Change: V292A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: V292A

DomainStartEndE-ValueType
low complexity region 70 78 N/A INTRINSIC
Pfam:HEAT_2 367 475 2.4e-12 PFAM
Pfam:HEAT_EZ 380 434 1.1e-9 PFAM
Pfam:HEAT 409 438 8.3e-7 PFAM
Pfam:HEAT 916 944 1.1e-6 PFAM
Meta Mutation Damage Score 0.1484 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (83/84)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik A T 8: 3,386,390 E228V probably damaging Het
Acaca C T 11: 84,245,349 T510I probably damaging Het
Akap12 G T 10: 4,353,748 W291L probably damaging Het
Akip1 A T 7: 109,708,980 I152F probably benign Het
Alpk2 T A 18: 65,307,002 Y440F probably benign Het
Aox3 A G 1: 58,119,539 T90A probably damaging Het
B4galnt4 A G 7: 141,067,713 K405E probably damaging Het
BC034090 T C 1: 155,241,631 E247G probably damaging Het
Camkk2 A T 5: 122,756,582 F216I unknown Het
Carm1 A C 9: 21,586,990 K430T probably benign Het
Ccdc13 A G 9: 121,814,213 V374A probably benign Het
Cdh26 T A 2: 178,470,042 M465K probably benign Het
Ceacam10 A T 7: 24,778,332 M91L probably benign Het
Chrnb1 T C 11: 69,787,024 T301A possibly damaging Het
Clec4a3 A G 6: 122,966,422 D101G probably benign Het
Cmss1 G A 16: 57,317,947 P59S probably benign Het
Crhr1 T A 11: 104,169,142 F138L probably benign Het
Cxcl5 A T 5: 90,760,031 I107F probably damaging Het
Cxcr1 A G 1: 74,192,675 S63P probably damaging Het
Cxcr5 A G 9: 44,513,310 L350P probably benign Het
D5Ertd579e A T 5: 36,614,617 H811Q probably benign Het
Ddx46 T G 13: 55,659,051 I499S probably damaging Het
Ddx51 T G 5: 110,656,919 probably null Het
Dnaja1 C T 4: 40,724,090 P84S probably benign Het
Dnajc27 A G 12: 4,103,132 K203E possibly damaging Het
Fam107b T A 2: 3,570,710 C24S probably damaging Het
Fancg T C 4: 43,010,066 K11R probably benign Het
Fnip1 T C 11: 54,466,125 L44P probably damaging Het
Fthl17b C T X: 8,962,804 R9Q possibly damaging Het
Fthl17b C T X: 8,962,808 V8M possibly damaging Het
Heca A T 10: 17,902,370 L493Q probably damaging Het
Hrh2 C T 13: 54,214,856 P284S probably damaging Het
Ifnar1 C G 16: 91,495,194 A141G probably damaging Het
Igkv6-32 T A 6: 70,074,298 T25S probably damaging Het
Inppl1 T C 7: 101,830,097 H525R probably damaging Het
Itga2b A G 11: 102,460,840 L553P probably damaging Het
Itgbl1 A G 14: 123,846,550 Y280C probably damaging Het
Kap T C 6: 133,851,957 I54V probably benign Het
Kcnh4 G T 11: 100,750,322 L434M probably damaging Het
Klhl14 T C 18: 21,554,649 D572G probably damaging Het
Klhl41 T A 2: 69,670,717 L174Q probably damaging Het
Lrp2 T G 2: 69,506,732 H1232P probably damaging Het
Lyar A G 5: 38,230,817 E229G probably benign Het
Mark4 A T 7: 19,443,226 L226Q probably damaging Het
Mcm8 A G 2: 132,843,533 K823R probably damaging Het
Mfsd6 A T 1: 52,709,053 S218T probably benign Het
Mlip A T 9: 77,138,546 I884N possibly damaging Het
Mmrn1 A G 6: 60,976,705 T657A probably benign Het
Morc2b A G 17: 33,136,402 Y799H probably benign Het
Muc16 A T 9: 18,607,722 I6304N probably benign Het
Mug1 C A 6: 121,861,220 H470N possibly damaging Het
Naaladl2 T C 3: 24,058,139 Y593C probably damaging Het
Ncor1 T C 11: 62,398,328 E341G probably damaging Het
Nrg1 G T 8: 32,009,141 probably null Het
Nudt3 A G 17: 27,623,175 L4P probably benign Het
Odf2l T A 3: 145,148,584 H493Q probably benign Het
Ost4 A C 5: 30,907,663 probably null Het
Patj A T 4: 98,496,950 Q840L possibly damaging Het
Pcdh20 T A 14: 88,469,367 T166S probably benign Het
Pcdhb4 T A 18: 37,309,240 D534E probably damaging Het
Pik3ap1 T C 19: 41,321,630 D417G possibly damaging Het
Ppwd1 A T 13: 104,220,290 V239E probably damaging Het
Prdm9 T A 17: 15,555,571 Y206F probably damaging Het
Rgs21 T A 1: 144,541,249 M22L probably benign Het
Rnf17 A T 14: 56,438,878 I399F probably damaging Het
Rph3a T A 5: 120,961,276 Q184L probably benign Het
Scrn3 T C 2: 73,319,370 Y137H possibly damaging Het
Sec14l4 C A 11: 4,044,178 Y342* probably null Het
Serpinb11 G A 1: 107,379,988 G383D probably damaging Het
Sf3b1 A G 1: 54,987,467 V1261A probably damaging Het
Sh3tc2 C T 18: 62,014,971 Q1251* probably null Het
Skor1 A T 9: 63,141,763 D845E probably benign Het
Slc39a7 A G 17: 34,029,577 L364P probably damaging Het
Snrpn T C 7: 59,987,491 I26V probably benign Het
Snx5 A T 2: 144,258,004 probably null Het
Spag9 T C 11: 94,102,160 probably null Het
Srrm2 T C 17: 23,820,981 S2200P probably damaging Het
Stx11 T C 10: 12,941,326 E218G probably damaging Het
Tmem151b T C 17: 45,545,935 N193S probably damaging Het
Tmem87b A T 2: 128,849,054 D525V possibly damaging Het
Ubtfl1 A T 9: 18,409,486 R103S possibly damaging Het
Vmn1r196 T A 13: 22,293,762 D190E probably damaging Het
Vmn2r67 T A 7: 85,155,811 D31V probably benign Het
Zbtb22 T A 17: 33,918,579 M566K probably benign Het
Zfp568 A T 7: 30,022,290 H220L probably benign Het
Zfp974 A T 7: 27,910,712 S529R possibly damaging Het
Other mutations in Ranbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Ranbp6 APN 19 29809776 missense probably benign 0.00
IGL02665:Ranbp6 APN 19 29812901 missense possibly damaging 0.64
IGL02943:Ranbp6 APN 19 29812124 missense possibly damaging 0.91
IGL03018:Ranbp6 APN 19 29811389 missense probably damaging 1.00
IGL03219:Ranbp6 APN 19 29810280 missense probably damaging 1.00
R0137:Ranbp6 UTSW 19 29809697 missense probably benign 0.16
R0412:Ranbp6 UTSW 19 29812083 missense possibly damaging 0.91
R1171:Ranbp6 UTSW 19 29812279 missense probably benign 0.37
R1521:Ranbp6 UTSW 19 29811446 missense probably benign
R1967:Ranbp6 UTSW 19 29812500 nonsense probably null
R2257:Ranbp6 UTSW 19 29811549 missense possibly damaging 0.47
R4490:Ranbp6 UTSW 19 29810333 missense probably damaging 1.00
R4624:Ranbp6 UTSW 19 29810863 nonsense probably null
R4625:Ranbp6 UTSW 19 29810863 nonsense probably null
R4626:Ranbp6 UTSW 19 29810863 nonsense probably null
R4649:Ranbp6 UTSW 19 29810321 missense probably benign 0.23
R4709:Ranbp6 UTSW 19 29811584 missense probably benign 0.00
R4777:Ranbp6 UTSW 19 29811637 missense probably damaging 1.00
R4895:Ranbp6 UTSW 19 29809775 missense possibly damaging 0.93
R5362:Ranbp6 UTSW 19 29811728 missense probably benign 0.30
R5379:Ranbp6 UTSW 19 29811683 missense probably damaging 1.00
R5617:Ranbp6 UTSW 19 29812463 missense probably damaging 1.00
R6264:Ranbp6 UTSW 19 29812626 missense probably benign 0.00
R7091:Ranbp6 UTSW 19 29812716 missense probably damaging 1.00
R7234:Ranbp6 UTSW 19 29812062 missense possibly damaging 0.67
R7904:Ranbp6 UTSW 19 29812413 missense probably benign
R7987:Ranbp6 UTSW 19 29812413 missense probably benign
R8023:Ranbp6 UTSW 19 29811822 missense possibly damaging 0.81
X0024:Ranbp6 UTSW 19 29812440 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTGTCTAGGGCACTCTC -3'
(R):5'- AGACTTTGCGGATTTGCTTC -3'

Sequencing Primer
(F):5'- TGTCTAGGGCACTCTCAGCAG -3'
(R):5'- CAGGCTGTGAATGATTCCTGCTAC -3'
Posted On2019-11-12