Incidental Mutation 'R8719:Rnf40'
ID 670012
Institutional Source Beutler Lab
Gene Symbol Rnf40
Ensembl Gene ENSMUSG00000030816
Gene Name ring finger protein 40
Synonyms
MMRRC Submission 068614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R8719 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127187870-127202777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127191834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 356 (L356Q)
Ref Sequence ENSEMBL: ENSMUSP00000146310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033088] [ENSMUST00000072155] [ENSMUST00000205694] [ENSMUST00000206914]
AlphaFold Q3U319
Predicted Effect probably benign
Transcript: ENSMUST00000033088
SMART Domains Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816

DomainStartEndE-ValueType
coiled coil region 55 86 N/A INTRINSIC
coiled coil region 189 209 N/A INTRINSIC
coiled coil region 231 377 N/A INTRINSIC
coiled coil region 437 525 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
coiled coil region 629 760 N/A INTRINSIC
coiled coil region 800 839 N/A INTRINSIC
RING 948 986 1.86e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072155
SMART Domains Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176

DomainStartEndE-ValueType
Pfam:CLAMP 130 228 3.1e-37 PFAM
low complexity region 243 274 N/A INTRINSIC
coiled coil region 285 319 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205694
AA Change: L356Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206914
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,700 (GRCm39) I224T probably benign Het
Adamts20 C G 15: 94,241,903 (GRCm39) A702P probably damaging Het
Ahdc1 T A 4: 132,791,533 (GRCm39) Y925N possibly damaging Het
Anapc1 T C 2: 128,483,369 (GRCm39) E1242G probably damaging Het
Angptl2 A G 2: 33,133,914 (GRCm39) N412S possibly damaging Het
Aox3 T C 1: 58,158,696 (GRCm39) V89A probably damaging Het
Atxn1l A T 8: 110,459,861 (GRCm39) S134T possibly damaging Het
Brf1 C A 12: 112,943,304 (GRCm39) probably benign Het
Cab39l A T 14: 59,734,314 (GRCm39) H11L probably benign Het
Cabcoco1 A G 10: 68,272,671 (GRCm39) probably benign Het
Ccdc150 C A 1: 54,302,668 (GRCm39) P96Q probably benign Het
Chek2 T C 5: 111,014,908 (GRCm39) V459A probably damaging Het
Cntnap2 A T 6: 45,978,161 (GRCm39) D272V probably damaging Het
Cspp1 T C 1: 10,160,516 (GRCm39) S572P possibly damaging Het
Cysltr2 T C 14: 73,267,111 (GRCm39) T200A possibly damaging Het
Dglucy T C 12: 100,804,821 (GRCm39) L104P probably damaging Het
Dnah8 T A 17: 30,960,289 (GRCm39) M2222K probably damaging Het
Dync2h1 C A 9: 7,041,641 (GRCm39) V3334F probably benign Het
Ear2 A T 14: 44,340,734 (GRCm39) T131S possibly damaging Het
Eef1akmt2 A T 7: 132,452,340 (GRCm39) V92D probably damaging Het
Fam83c T A 2: 155,671,128 (GRCm39) Q769L probably benign Het
Fanca A T 8: 124,014,867 (GRCm39) C812S probably benign Het
Gm21663 T G 5: 26,146,162 (GRCm39) R50S probably damaging Het
Gm5591 T G 7: 38,221,614 (GRCm39) S152R probably benign Het
Gm6370 T G 5: 146,430,626 (GRCm39) D270E probably damaging Het
H2-T22 T C 17: 36,352,835 (GRCm39) I91V probably benign Het
Hdac5 T C 11: 102,097,963 (GRCm39) M61V probably benign Het
Hsd17b6 A G 10: 127,829,492 (GRCm39) S237P possibly damaging Het
Khk T A 5: 31,088,374 (GRCm39) F294I possibly damaging Het
Klc1 G A 12: 111,772,509 (GRCm39) probably benign Het
Lamb3 T C 1: 193,006,099 (GRCm39) W143R probably damaging Het
Lmo2 T C 2: 103,811,264 (GRCm39) I171T probably damaging Het
Meis1 A G 11: 18,835,587 (GRCm39) S344P probably benign Het
Nf1 C A 11: 79,281,119 (GRCm39) R125S possibly damaging Het
Nrcam A G 12: 44,586,325 (GRCm39) E105G probably benign Het
Nudt22 T C 19: 6,972,638 (GRCm39) D150G possibly damaging Het
Or14j8 T C 17: 38,263,895 (GRCm39) T7A probably damaging Het
Or5an1 A G 19: 12,260,792 (GRCm39) I127V probably benign Het
Or5b109 A G 19: 13,211,836 (GRCm39) Y74C probably damaging Het
Pclo A T 5: 14,763,778 (GRCm39) R799* probably null Het
Pelp1 T C 11: 70,292,789 (GRCm39) N175S probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pik3r4 C A 9: 105,559,394 (GRCm39) S1162R probably benign Het
Pkd1l3 A T 8: 110,341,255 (GRCm39) N36I unknown Het
Pomk T A 8: 26,473,503 (GRCm39) Y150F possibly damaging Het
Rdh11 T A 12: 79,229,574 (GRCm39) H233L probably benign Het
Rln1 A T 19: 29,309,281 (GRCm39) M166K probably benign Het
Sin3b G T 8: 73,450,139 (GRCm39) G19W unknown Het
Slc6a15 A G 10: 103,240,176 (GRCm39) R300G probably damaging Het
Sncaip A T 18: 53,027,910 (GRCm39) K433M probably damaging Het
Tead2 A T 7: 44,882,316 (GRCm39) probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Tmem117 T C 15: 94,992,248 (GRCm39) F303L probably damaging Het
Tmem270 T G 5: 134,930,650 (GRCm39) T204P probably damaging Het
Trip12 A G 1: 84,722,790 (GRCm39) V1320A probably damaging Het
Ttc7b A G 12: 100,267,812 (GRCm39) L843P probably damaging Het
Ttn T C 2: 76,543,041 (GRCm39) Y33315C probably damaging Het
Ttn A G 2: 76,607,146 (GRCm39) V17959A possibly damaging Het
Vmn2r73 A G 7: 85,521,095 (GRCm39) V291A probably damaging Het
Ywhag T A 5: 135,939,998 (GRCm39) T199S probably benign Het
Zfp810 T C 9: 22,190,571 (GRCm39) T77A probably benign Het
Other mutations in Rnf40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02155:Rnf40 APN 7 127,189,888 (GRCm39) splice site probably benign
IGL02331:Rnf40 APN 7 127,188,999 (GRCm39) missense probably benign
IGL02626:Rnf40 APN 7 127,195,744 (GRCm39) missense probably damaging 1.00
IGL02867:Rnf40 APN 7 127,190,601 (GRCm39) nonsense probably null
IGL02889:Rnf40 APN 7 127,190,601 (GRCm39) nonsense probably null
IGL03353:Rnf40 APN 7 127,192,063 (GRCm39) nonsense probably null
R0103:Rnf40 UTSW 7 127,199,743 (GRCm39) missense probably damaging 1.00
R0103:Rnf40 UTSW 7 127,199,743 (GRCm39) missense probably damaging 1.00
R0133:Rnf40 UTSW 7 127,196,032 (GRCm39) splice site probably null
R0554:Rnf40 UTSW 7 127,201,756 (GRCm39) missense probably damaging 1.00
R0563:Rnf40 UTSW 7 127,192,048 (GRCm39) missense probably damaging 1.00
R1523:Rnf40 UTSW 7 127,189,787 (GRCm39) missense probably damaging 0.99
R1551:Rnf40 UTSW 7 127,195,506 (GRCm39) missense possibly damaging 0.88
R1804:Rnf40 UTSW 7 127,195,120 (GRCm39) missense possibly damaging 0.59
R1929:Rnf40 UTSW 7 127,190,956 (GRCm39) missense probably damaging 0.99
R2194:Rnf40 UTSW 7 127,196,407 (GRCm39) missense probably damaging 1.00
R2356:Rnf40 UTSW 7 127,190,748 (GRCm39) missense probably damaging 0.99
R4839:Rnf40 UTSW 7 127,191,812 (GRCm39) nonsense probably null
R5071:Rnf40 UTSW 7 127,196,458 (GRCm39) missense probably damaging 1.00
R5074:Rnf40 UTSW 7 127,196,458 (GRCm39) missense probably damaging 1.00
R5292:Rnf40 UTSW 7 127,195,120 (GRCm39) missense possibly damaging 0.59
R5537:Rnf40 UTSW 7 127,195,261 (GRCm39) missense probably benign 0.05
R5547:Rnf40 UTSW 7 127,188,302 (GRCm39) critical splice donor site probably null
R5871:Rnf40 UTSW 7 127,190,757 (GRCm39) missense probably damaging 0.97
R6767:Rnf40 UTSW 7 127,195,757 (GRCm39) missense possibly damaging 0.88
R6834:Rnf40 UTSW 7 127,195,578 (GRCm39) missense probably benign 0.18
R6969:Rnf40 UTSW 7 127,195,495 (GRCm39) missense possibly damaging 0.89
R6980:Rnf40 UTSW 7 127,193,849 (GRCm39) missense probably damaging 1.00
R7626:Rnf40 UTSW 7 127,189,047 (GRCm39) missense probably benign
R8177:Rnf40 UTSW 7 127,195,322 (GRCm39) missense probably benign
R8798:Rnf40 UTSW 7 127,188,954 (GRCm39) missense probably damaging 1.00
R8817:Rnf40 UTSW 7 127,196,332 (GRCm39) missense probably damaging 1.00
R9160:Rnf40 UTSW 7 127,190,993 (GRCm39) missense probably damaging 1.00
R9299:Rnf40 UTSW 7 127,188,172 (GRCm39) missense probably benign 0.01
R9337:Rnf40 UTSW 7 127,188,172 (GRCm39) missense probably benign 0.01
R9462:Rnf40 UTSW 7 127,191,010 (GRCm39) critical splice donor site probably null
R9464:Rnf40 UTSW 7 127,190,954 (GRCm39) missense probably benign 0.06
R9469:Rnf40 UTSW 7 127,195,769 (GRCm39) missense probably damaging 1.00
R9476:Rnf40 UTSW 7 127,201,808 (GRCm39) missense probably damaging 1.00
R9510:Rnf40 UTSW 7 127,201,808 (GRCm39) missense probably damaging 1.00
X0026:Rnf40 UTSW 7 127,193,867 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCCTTAGAAAACGCATTGC -3'
(R):5'- CTCATTGTAGAGCAGGGAGAAC -3'

Sequencing Primer
(F):5'- CCCTTAGAAAACGCATTGCTTTGG -3'
(R):5'- AGAACTGTGCCTGCAGC -3'
Posted On 2021-04-30