Incidental Mutation 'R1804:Rnf40'
ID 203383
Institutional Source Beutler Lab
Gene Symbol Rnf40
Ensembl Gene ENSMUSG00000030816
Gene Name ring finger protein 40
Synonyms
MMRRC Submission 039834-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1804 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127187870-127202777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127195120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 411 (V411A)
Ref Sequence ENSEMBL: ENSMUSP00000146004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033088] [ENSMUST00000205694] [ENSMUST00000206914]
AlphaFold Q3U319
Predicted Effect probably benign
Transcript: ENSMUST00000033088
AA Change: V471A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
AA Change: V471A

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: ENSMUST00000205694
AA Change: V511A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206724
Predicted Effect possibly damaging
Transcript: ENSMUST00000206914
AA Change: V411A

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.5%
  • 20x: 89.8%
Validation Efficiency 96% (77/80)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,400 (GRCm39) Y220H probably benign Het
4930579C12Rik T C 9: 89,034,113 (GRCm39) noncoding transcript Het
Abcc8 T C 7: 45,769,903 (GRCm39) S871G probably benign Het
Acly T C 11: 100,406,731 (GRCm39) Y288C probably damaging Het
Adgrb1 T A 15: 74,401,389 (GRCm39) D128E probably damaging Het
Alms1 C T 6: 85,598,257 (GRCm39) Q1497* probably null Het
Bltp2 A G 11: 78,164,295 (GRCm39) H1165R probably damaging Het
Cacna1c G A 6: 118,664,007 (GRCm39) T688M probably damaging Het
Ccdc7a A T 8: 129,715,247 (GRCm39) L279* probably null Het
Cep135 A G 5: 76,784,779 (GRCm39) E958G probably benign Het
Clec4n G T 6: 123,206,981 (GRCm39) V2L possibly damaging Het
Col28a1 C T 6: 8,164,612 (GRCm39) probably null Het
Dcaf5 A G 12: 80,386,603 (GRCm39) S508P probably benign Het
Dlgap2 C A 8: 14,777,809 (GRCm39) N351K possibly damaging Het
Dnah8 T A 17: 30,927,381 (GRCm39) Y1346N probably benign Het
Dqx1 T C 6: 83,037,303 (GRCm39) V322A probably damaging Het
Ebf3 A C 7: 136,802,250 (GRCm39) L412V possibly damaging Het
Epha5 T C 5: 84,479,674 (GRCm39) N110S probably benign Het
Fcgbp T C 7: 27,785,564 (GRCm39) C334R probably benign Het
Glp1r T A 17: 31,149,687 (GRCm39) probably null Het
Gm4952 G T 19: 12,595,784 (GRCm39) R58L probably damaging Het
Gm7579 G A 7: 141,765,675 (GRCm39) C27Y unknown Het
Golm1 T A 13: 59,790,203 (GRCm39) probably null Het
Gucy2g T A 19: 55,198,741 (GRCm39) I801F probably benign Het
H2-D1 T C 17: 35,482,528 (GRCm39) Y83H probably damaging Het
Homez A T 14: 55,094,598 (GRCm39) I19N probably damaging Het
Hoxa5 T C 6: 52,179,628 (GRCm39) K249R probably damaging Het
Hsd17b4 A T 18: 50,311,051 (GRCm39) N550Y probably damaging Het
Ipo4 A T 14: 55,866,913 (GRCm39) N668K probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klb A G 5: 65,537,196 (GRCm39) D842G probably damaging Het
Minar1 T A 9: 89,485,152 (GRCm39) M82L possibly damaging Het
Mmp21 G T 7: 133,280,611 (GRCm39) P120T probably benign Het
Mroh7 T A 4: 106,551,589 (GRCm39) I918F possibly damaging Het
Muc5b A G 7: 141,417,517 (GRCm39) T3488A possibly damaging Het
Npc1 C T 18: 12,356,145 (GRCm39) C42Y probably damaging Het
Ogdh A G 11: 6,288,565 (GRCm39) Y214C probably damaging Het
Or2q1 G A 6: 42,795,155 (GRCm39) C250Y possibly damaging Het
Or4k15c A T 14: 50,321,359 (GRCm39) W260R probably damaging Het
Or4k35 T C 2: 111,100,275 (GRCm39) M146V probably benign Het
Or5al1 G T 2: 85,990,417 (GRCm39) T99N probably benign Het
Or8d23 A G 9: 38,841,946 (GRCm39) T160A possibly damaging Het
Phtf1 A G 3: 103,894,883 (GRCm39) probably benign Het
Plb1 A G 5: 32,511,041 (GRCm39) N1302S possibly damaging Het
Prex2 A G 1: 11,202,566 (GRCm39) K492E probably damaging Het
Prkaa1 A G 15: 5,208,259 (GRCm39) D509G probably benign Het
Rims2 C T 15: 39,300,439 (GRCm39) Q57* probably null Het
Rraga A G 4: 86,494,681 (GRCm39) I176V probably damaging Het
Rrm2 T C 12: 24,758,611 (GRCm39) I51T probably benign Het
Serpina3a T A 12: 104,084,675 (GRCm39) probably benign Het
Skint7 T C 4: 111,839,209 (GRCm39) W168R probably damaging Het
Slc27a4 A G 2: 29,701,279 (GRCm39) M357V probably benign Het
Slc4a3 A G 1: 75,528,361 (GRCm39) H452R probably damaging Het
Smc1b A T 15: 85,011,991 (GRCm39) I127K possibly damaging Het
Snap91 T A 9: 86,665,470 (GRCm39) M383L probably benign Het
Taf6l A T 19: 8,750,998 (GRCm39) L52Q probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tas2r124 A G 6: 132,732,488 (GRCm39) I266V probably benign Het
Tesk2 T C 4: 116,657,818 (GRCm39) probably benign Het
Tmem131l T G 3: 83,817,786 (GRCm39) Q1237P possibly damaging Het
Tmem67 A G 4: 12,045,789 (GRCm39) probably null Het
Tnfaip8 T A 18: 50,223,728 (GRCm39) C179S probably damaging Het
Ush2a G A 1: 188,365,926 (GRCm39) probably null Het
Vps13b A T 15: 35,917,283 (GRCm39) E3709V probably damaging Het
Wdr7 A T 18: 63,998,511 (GRCm39) S1153C probably damaging Het
Zc2hc1b A C 10: 13,047,012 (GRCm39) probably benign Het
Zfp438 A G 18: 5,213,689 (GRCm39) I423T probably damaging Het
Zfp592 C A 7: 80,673,443 (GRCm39) P136T probably damaging Het
Zfp783 T A 6: 47,922,819 (GRCm39) noncoding transcript Het
Zfp804b A T 5: 6,821,756 (GRCm39) S400T possibly damaging 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
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
R8719:Rnf40 UTSW 7 127,191,834 (GRCm39) missense probably damaging 1.00
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'- TTCTCTGTGGGCACTGACTC -3'
(R):5'- TCCTTCTTGCAGTCAGGGGTAC -3'

Sequencing Primer
(F):5'- TGGGCACTGACTCCGTCTG -3'
(R):5'- TTCCTTCCCTGGGGCAAG -3'
Posted On 2014-06-23