Incidental Mutation 'R1554:Rims4'
ID 170134
Institutional Source Beutler Lab
Gene Symbol Rims4
Ensembl Gene ENSMUSG00000035226
Gene Name regulating synaptic membrane exocytosis 4
Synonyms Rim4
MMRRC Submission 039593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1554 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 163701671-163760603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163721042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 70 (S70G)
Ref Sequence ENSEMBL: ENSMUSP00000045637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044734]
AlphaFold P60191
Predicted Effect probably damaging
Transcript: ENSMUST00000044734
AA Change: S70G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226
AA Change: S70G

DomainStartEndE-ValueType
C2 129 232 1.42e-11 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induec allele exhibit reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,886,302 (GRCm39) D70E possibly damaging Het
Adamts7 A T 9: 90,055,703 (GRCm39) D152V probably damaging Het
Api5 T C 2: 94,255,988 (GRCm39) D233G probably benign Het
Btaf1 A G 19: 36,973,998 (GRCm39) D1390G probably benign Het
Cep135 G A 5: 76,782,060 (GRCm39) W893* probably null Het
Cgas A T 9: 78,342,838 (GRCm39) S321R probably damaging Het
Cmtm6 T A 9: 114,575,550 (GRCm39) V153D possibly damaging Het
Dnah11 C T 12: 118,046,234 (GRCm39) V1735I possibly damaging Het
Dnm1l T C 16: 16,159,290 (GRCm39) N104S probably benign Het
Dpyd A T 3: 118,858,695 (GRCm39) probably null Het
Dtx1 T C 5: 120,821,386 (GRCm39) K387R probably damaging Het
Ercc4 A G 16: 12,965,486 (GRCm39) D706G probably damaging Het
Fat2 T C 11: 55,144,490 (GRCm39) N4128S probably benign Het
Gm42669 T A 5: 107,655,653 (GRCm39) C639S possibly damaging Het
Grk3 T A 5: 113,117,135 (GRCm39) I89L possibly damaging Het
Grm8 A T 6: 28,125,852 (GRCm39) D91E probably benign Het
Havcr1 C A 11: 46,643,334 (GRCm39) H85N probably benign Het
Il12rb1 G A 8: 71,266,016 (GRCm39) probably null Het
Kif3a A G 11: 53,489,154 (GRCm39) K117E probably damaging Het
Kitl T A 10: 99,923,300 (GRCm39) F15L probably benign Het
Ktn1 T G 14: 47,932,964 (GRCm39) L706R probably damaging Het
Lipg T C 18: 75,081,118 (GRCm39) Y321C probably damaging Het
Mapk8ip3 T C 17: 25,122,033 (GRCm39) D710G probably benign Het
Mchr1 A G 15: 81,120,021 (GRCm39) N16S probably benign Het
Myadml2 A T 11: 120,538,553 (GRCm39) L94* probably null Het
Npr3 C A 15: 11,848,649 (GRCm39) M439I probably benign Het
Obscn A G 11: 58,894,474 (GRCm39) I6677T unknown Het
Ogn A C 13: 49,774,520 (GRCm39) D221A probably benign Het
Or8b40 T C 9: 38,027,230 (GRCm39) I46T probably benign Het
Pard3b C A 1: 62,677,053 (GRCm39) Q1195K probably damaging Het
Pcsk4 T C 10: 80,157,785 (GRCm39) E608G probably benign Het
Pdlim1 T C 19: 40,211,516 (GRCm39) D259G probably benign Het
Per1 T C 11: 68,994,453 (GRCm39) S526P probably damaging Het
Pfkfb2 A G 1: 130,634,209 (GRCm39) V156A probably damaging Het
Ppp4r3a A T 12: 101,022,081 (GRCm39) D307E probably damaging Het
Rnf213 T C 11: 119,332,665 (GRCm39) F2625L probably benign Het
Sap130 T C 18: 31,799,525 (GRCm39) L334P probably damaging Het
Slc16a10 T C 10: 39,952,796 (GRCm39) I233V probably benign Het
Slc16a7 A C 10: 125,066,791 (GRCm39) F283V possibly damaging Het
Slc25a24 T C 3: 109,043,586 (GRCm39) M81T probably benign Het
Slc30a9 A G 5: 67,484,264 (GRCm39) R134G probably damaging Het
Slc35d3 G T 10: 19,726,483 (GRCm39) L96M probably damaging Het
Slc7a11 C T 3: 50,336,345 (GRCm39) G333D probably damaging Het
Stam T C 2: 14,146,639 (GRCm39) S446P probably benign Het
Stk38 T A 17: 29,198,206 (GRCm39) N248I possibly damaging Het
Tasor2 A G 13: 3,626,374 (GRCm39) V1192A possibly damaging Het
Tle6 A C 10: 81,431,219 (GRCm39) S221A probably benign Het
Tmprss11b G A 5: 86,809,490 (GRCm39) T334I probably benign Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Tpm1 T C 9: 66,930,711 (GRCm39) H262R probably benign Het
Tspan33 T C 6: 29,711,081 (GRCm39) S118P possibly damaging Het
Tyk2 A G 9: 21,019,218 (GRCm39) V1068A probably damaging Het
Ubr2 T C 17: 47,283,877 (GRCm39) I591V probably benign Het
Utp20 A T 10: 88,600,599 (GRCm39) Y38* probably null Het
Vmn1r217 A T 13: 23,298,464 (GRCm39) I146N possibly damaging Het
Zfp608 T C 18: 55,031,126 (GRCm39) Y938C probably damaging Het
Other mutations in Rims4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Rims4 APN 2 163,706,022 (GRCm39) missense probably damaging 1.00
IGL01980:Rims4 APN 2 163,707,702 (GRCm39) splice site probably benign
demure UTSW 2 163,706,040 (GRCm39) missense probably damaging 0.99
diminutive UTSW 2 163,706,785 (GRCm39) critical splice donor site probably null
R0115:Rims4 UTSW 2 163,706,040 (GRCm39) missense probably damaging 0.99
R0152:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R0153:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R0173:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R0238:Rims4 UTSW 2 163,705,945 (GRCm39) missense probably benign 0.03
R0238:Rims4 UTSW 2 163,705,945 (GRCm39) missense probably benign 0.03
R0481:Rims4 UTSW 2 163,706,040 (GRCm39) missense probably damaging 0.99
R0702:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R0735:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R0973:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R0973:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R0974:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R1013:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R1014:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R1017:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R1104:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R1209:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R1401:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R1618:Rims4 UTSW 2 163,705,849 (GRCm39) missense possibly damaging 0.65
R2104:Rims4 UTSW 2 163,706,785 (GRCm39) critical splice donor site probably null
R2171:Rims4 UTSW 2 163,706,046 (GRCm39) splice site probably null
R3611:Rims4 UTSW 2 163,721,126 (GRCm39) missense possibly damaging 0.50
R3735:Rims4 UTSW 2 163,705,905 (GRCm39) missense possibly damaging 0.88
R3836:Rims4 UTSW 2 163,760,573 (GRCm39) missense possibly damaging 0.86
R4685:Rims4 UTSW 2 163,706,914 (GRCm39) nonsense probably null
R4849:Rims4 UTSW 2 163,707,463 (GRCm39) missense probably benign 0.11
R4873:Rims4 UTSW 2 163,707,443 (GRCm39) missense probably null 0.00
R4875:Rims4 UTSW 2 163,707,443 (GRCm39) missense probably null 0.00
R5337:Rims4 UTSW 2 163,707,763 (GRCm39) missense probably benign 0.00
R5415:Rims4 UTSW 2 163,760,596 (GRCm39) missense probably benign 0.26
R5646:Rims4 UTSW 2 163,705,937 (GRCm39) nonsense probably null
R6487:Rims4 UTSW 2 163,706,817 (GRCm39) missense possibly damaging 0.93
R7213:Rims4 UTSW 2 163,705,981 (GRCm39) missense probably benign 0.00
R7814:Rims4 UTSW 2 163,760,548 (GRCm39) missense probably benign 0.05
R7849:Rims4 UTSW 2 163,705,974 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTGGTTTCTTCTGAAGGCCCTG -3'
(R):5'- AGCTGGAGACAATGCTATGTGCTG -3'

Sequencing Primer
(F):5'- AAGGCCCTGGAGGCTTAG -3'
(R):5'- TGAAGAGCGCCTTGTTCC -3'
Posted On 2014-04-13