Incidental Mutation 'R1509:Rnf157'
ID168161
Institutional Source Beutler Lab
Gene Symbol Rnf157
Ensembl Gene ENSMUSG00000052949
Gene Namering finger protein 157
SynonymsA130073L17Rik, 2610036E23Rik
MMRRC Submission 039556-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1509 (G1)
Quality Score168
Status Validated
Chromosome11
Chromosomal Location116336353-116413032 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116347095 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 567 (T567S)
Ref Sequence ENSEMBL: ENSMUSP00000097776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100202] [ENSMUST00000106398]
Predicted Effect probably benign
Transcript: ENSMUST00000100202
AA Change: T567S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949
AA Change: T567S

DomainStartEndE-ValueType
RING 277 315 5.64e-4 SMART
low complexity region 345 358 N/A INTRINSIC
low complexity region 427 444 N/A INTRINSIC
low complexity region 446 457 N/A INTRINSIC
low complexity region 552 562 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106398
SMART Domains Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949

DomainStartEndE-ValueType
RING 277 315 5.64e-4 SMART
low complexity region 345 358 N/A INTRINSIC
low complexity region 427 444 N/A INTRINSIC
low complexity region 446 457 N/A INTRINSIC
low complexity region 552 562 N/A INTRINSIC
low complexity region 563 574 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137264
Predicted Effect unknown
Transcript: ENSMUST00000149147
AA Change: T391S
SMART Domains Protein: ENSMUSP00000122483
Gene: ENSMUSG00000052949
AA Change: T391S

DomainStartEndE-ValueType
RING 102 140 5.64e-4 SMART
low complexity region 170 183 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 377 387 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000150775
AA Change: T79S
SMART Domains Protein: ENSMUSP00000123289
Gene: ENSMUSG00000052949
AA Change: T79S

DomainStartEndE-ValueType
low complexity region 65 75 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 99% (89/90)
MGI Phenotype PHENOTYPE: The gene supports neuronal survival and dendrite growth and maintenance and knockdown with siRNA induces apoptosis in neuronal tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,192,647 S132P probably benign Het
4930430A15Rik A T 2: 111,218,627 M269K probably benign Het
AC153895.1 T C 6: 50,043,471 R54G unknown Het
Acot12 G A 13: 91,771,875 probably null Het
Adhfe1 T A 1: 9,553,446 D98E probably benign Het
Ago2 A G 15: 73,116,364 F594S probably damaging Het
Aldh18a1 A G 19: 40,557,483 I620T probably damaging Het
Aspscr1 C A 11: 120,701,516 A294D probably damaging Het
BC067074 A G 13: 113,368,256 N431S probably damaging Het
Bod1l C G 5: 41,819,540 R1477T probably damaging Het
Ccdc18 C A 5: 108,188,978 A741D possibly damaging Het
Ces4a G A 8: 105,138,097 G69S probably damaging Het
Cfap52 C T 11: 67,938,993 V317I probably benign Het
Cgn A T 3: 94,774,258 L509Q probably benign Het
Crb2 A G 2: 37,786,619 H204R probably benign Het
Ddx39 G A 8: 83,719,898 V99M probably damaging Het
Dis3l2 T A 1: 87,021,086 C582S possibly damaging Het
Dmbt1 G A 7: 131,074,331 probably benign Het
Dnah6 T C 6: 73,027,442 E3846G probably damaging Het
Dstyk A G 1: 132,456,346 E655G probably damaging Het
Epha4 T C 1: 77,380,886 Y825C probably damaging Het
Esp36 T A 17: 38,417,282 N36I probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fem1c A G 18: 46,524,213 S145P probably benign Het
Galnt13 T C 2: 54,733,082 I80T probably damaging Het
Gm10125 A G 18: 5,583,794 noncoding transcript Het
Gm5698 T C 1: 30,977,647 T108A probably benign Het
Hipk3 A G 2: 104,441,262 S442P probably benign Het
Hmcn2 T A 2: 31,314,479 V22D possibly damaging Het
Hspg2 C T 4: 137,511,241 probably benign Het
Ide A G 19: 37,285,204 probably null Het
Ifnar1 C A 16: 91,503,496 P462Q probably damaging Het
Itgb2l T A 16: 96,426,849 I485F probably benign Het
Jakmip3 C T 7: 139,027,776 R549W possibly damaging Het
Lrrc36 A G 8: 105,461,129 Q680R probably damaging Het
Lysmd3 T G 13: 81,669,271 H122Q probably benign Het
Macf1 C A 4: 123,684,009 V61L possibly damaging Het
Map1b T C 13: 99,431,528 T1562A unknown Het
Map3k20 A T 2: 72,364,624 probably benign Het
Mroh8 A G 2: 157,233,205 V457A probably benign Het
Mrpl40 T A 16: 18,875,409 probably null Het
Ms4a10 C T 19: 10,964,108 V166I probably benign Het
Mycl A G 4: 123,000,307 D300G probably damaging Het
Naca T A 10: 128,043,397 probably benign Het
Ncoa4 T C 14: 32,173,434 S172P probably damaging Het
Nfatc3 T C 8: 106,083,854 F421L possibly damaging Het
Nucb1 C A 7: 45,495,225 K301N probably benign Het
Olfr1451 T A 19: 12,999,451 I155N possibly damaging Het
Olfr366 A G 2: 37,219,954 H155R probably damaging Het
Olfr629 A T 7: 103,741,036 M68K probably benign Het
Panx1 A T 9: 15,010,045 V178E possibly damaging Het
Pkd1l3 G A 8: 109,640,770 V1210I probably damaging Het
Polr2a A T 11: 69,747,213 H143Q possibly damaging Het
Prdm12 G A 2: 31,654,174 R263H probably damaging Het
Prkdc A C 16: 15,731,566 K1998T probably damaging Het
Rab11fip1 A T 8: 27,153,023 S583T probably damaging Het
Rp1 T C 1: 4,347,694 K1065R probably damaging Het
Rp1 A G 1: 4,348,537 I784T probably benign Het
Rps10 A C 17: 27,631,208 F150V probably benign Het
Rrp12 A T 19: 41,882,200 F499I probably damaging Het
Sez6l2 G A 7: 126,963,363 R604H probably damaging Het
Slc25a21 G T 12: 56,858,079 Q57K probably benign Het
Slc27a2 A G 2: 126,553,314 T54A possibly damaging Het
Slc9a9 T A 9: 95,228,958 S610T probably benign Het
Smc1b A T 15: 85,086,134 S973T probably benign Het
Smc6 G A 12: 11,279,733 S164N possibly damaging Het
Sp1 A G 15: 102,407,879 T32A possibly damaging Het
Spen T C 4: 141,475,635 I1894V probably benign Het
Spen T C 4: 141,475,700 K1872R possibly damaging Het
Stab1 C A 14: 31,151,584 probably benign Het
Taar7d T G 10: 24,028,204 F328C probably damaging Het
Ticam1 A T 17: 56,271,113 S327R probably benign Het
Tmem248 C T 5: 130,229,454 probably benign Het
Tom1 T C 8: 75,054,631 S83P probably damaging Het
Txk T A 5: 72,699,110 Y446F probably damaging Het
Ubap1l T A 9: 65,371,955 C179S probably benign Het
Utrn T C 10: 12,455,441 E474G possibly damaging Het
Vmn2r14 T C 5: 109,215,996 M685V probably benign Het
Vmn2r7 A T 3: 64,716,460 Y146* probably null Het
Wdr1 G A 5: 38,540,562 T220M probably damaging Het
Xpo7 T C 14: 70,678,142 D726G probably damaging Het
Zbtb14 C G 17: 69,387,764 I152M probably benign Het
Zbtb3 A G 19: 8,803,407 D128G probably damaging Het
Zfp462 T A 4: 55,007,667 D35E probably damaging Het
Zfp467 A G 6: 48,438,687 S344P possibly damaging Het
Zfpm1 A T 8: 122,307,546 D73V possibly damaging Het
Other mutations in Rnf157
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Rnf157 APN 11 116362355 missense probably benign 0.20
IGL01146:Rnf157 APN 11 116350086 missense probably benign 0.00
IGL01955:Rnf157 APN 11 116359896 missense probably damaging 0.96
IGL02010:Rnf157 APN 11 116396226 missense probably damaging 1.00
IGL02194:Rnf157 APN 11 116347032 critical splice donor site probably null
IGL03092:Rnf157 APN 11 116347969 critical splice acceptor site probably null
PIT4362001:Rnf157 UTSW 11 116360317 missense probably damaging 1.00
R0022:Rnf157 UTSW 11 116349450 unclassified probably benign
R0022:Rnf157 UTSW 11 116349450 unclassified probably benign
R0036:Rnf157 UTSW 11 116396302 missense probably damaging 1.00
R0164:Rnf157 UTSW 11 116354810 splice site probably benign
R1476:Rnf157 UTSW 11 116354759 missense probably damaging 1.00
R1544:Rnf157 UTSW 11 116354362 splice site probably null
R1654:Rnf157 UTSW 11 116358715 missense probably damaging 1.00
R1820:Rnf157 UTSW 11 116354651 missense probably damaging 1.00
R2133:Rnf157 UTSW 11 116358694 missense possibly damaging 0.93
R4017:Rnf157 UTSW 11 116359241 critical splice donor site probably null
R4590:Rnf157 UTSW 11 116359272 missense probably damaging 1.00
R4872:Rnf157 UTSW 11 116355472 missense possibly damaging 0.93
R4891:Rnf157 UTSW 11 116358670 missense probably damaging 1.00
R5608:Rnf157 UTSW 11 116396320 splice site probably null
R5870:Rnf157 UTSW 11 116347074 missense probably benign
R7171:Rnf157 UTSW 11 116362373 missense possibly damaging 0.83
R7376:Rnf157 UTSW 11 116360366 missense probably benign 0.35
X0020:Rnf157 UTSW 11 116360308 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCATACATGGAACCAGTGTCCC -3'
(R):5'- TCCTACATCGCACCTGGTACAGAAG -3'

Sequencing Primer
(F):5'- TCCCCTGCTGACAGAAGAG -3'
(R):5'- TTCACACAGGAGTGCCAG -3'
Posted On2014-04-13