Incidental Mutation 'R6925:Rbms1'
ID 541057
Institutional Source Beutler Lab
Gene Symbol Rbms1
Ensembl Gene ENSMUSG00000026970
Gene Name RNA binding motif, single stranded interacting protein 1
Synonyms MSSP-3, 2600014B10Rik, MSSP-2, YC1, MSSP-1
MMRRC Submission 045043-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6925 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 60580537-60793536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 60592648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 222 (T222P)
Ref Sequence ENSEMBL: ENSMUSP00000108128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028347] [ENSMUST00000112509] [ENSMUST00000164147]
AlphaFold Q91W59
Predicted Effect probably benign
Transcript: ENSMUST00000028347
AA Change: T255P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000028347
Gene: ENSMUSG00000026970
AA Change: T255P

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
low complexity region 36 54 N/A INTRINSIC
RRM 63 131 4.56e-18 SMART
RRM 142 213 2.43e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112509
AA Change: T222P

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108128
Gene: ENSMUSG00000026970
AA Change: T222P

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
RRM 30 98 4.56e-18 SMART
RRM 109 180 2.43e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164147
AA Change: T253P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000131306
Gene: ENSMUSG00000026970
AA Change: T253P

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 34 52 N/A INTRINSIC
RRM 61 129 4.56e-18 SMART
RRM 140 211 2.43e-13 SMART
Meta Mutation Damage Score 0.0873 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]
PHENOTYPE: Only about half the expected number of mice homozygous for disruptions in this gene are produced in matings of heterozygotes. Embryo sizes are reduced. Females have smaller than normal uteri and decreased levels of progesterone during estrus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A T 9: 53,503,329 (GRCm39) V170E probably benign Het
Atp2b2 T A 6: 113,737,681 (GRCm39) I902F probably damaging Het
Cacna1d A G 14: 29,773,594 (GRCm39) V1697A probably benign Het
Ccdc14 T A 16: 34,511,119 (GRCm39) F31Y probably benign Het
Ccdc17 T A 4: 116,455,407 (GRCm39) V250E probably damaging Het
Cct7 A G 6: 85,436,164 (GRCm39) N25S probably damaging Het
Cdcp3 A G 7: 130,824,436 (GRCm39) Q177R possibly damaging Het
Cep19 G C 16: 31,922,760 (GRCm39) G9R probably damaging Het
Ces5a A T 8: 94,249,685 (GRCm39) probably null Het
Chd1l T G 3: 97,490,142 (GRCm39) E471A probably damaging Het
Chd6 A G 2: 160,855,047 (GRCm39) I787T probably damaging Het
Cntnap5c A C 17: 58,702,261 (GRCm39) T1194P probably benign Het
Col6a3 T A 1: 90,743,724 (GRCm39) M208L probably benign Het
Coro7 A T 16: 4,446,538 (GRCm39) probably null Het
Csrnp2 T C 15: 100,379,839 (GRCm39) K484R probably benign Het
Cyp2c39 T A 19: 39,501,639 (GRCm39) V64E probably damaging Het
Ddr2 T C 1: 169,825,701 (GRCm39) K300E probably benign Het
Ddx56 T C 11: 6,213,980 (GRCm39) E393G probably damaging Het
Diaph1 A C 18: 37,986,732 (GRCm39) Y1084* probably null Het
Disp1 A T 1: 182,868,042 (GRCm39) F1459L probably benign Het
Dnajc8 G A 4: 132,271,424 (GRCm39) A80T probably damaging Het
Elfn1 T A 5: 139,957,440 (GRCm39) M148K probably benign Het
Emcn T A 3: 137,124,763 (GRCm39) I154N probably damaging Het
Enah T A 1: 181,733,464 (GRCm39) probably null Het
Enah C G 1: 181,733,463 (GRCm39) probably null Het
Ep300 C A 15: 81,534,182 (GRCm39) Q2080K probably benign Het
Epha2 T A 4: 141,036,068 (GRCm39) M168K probably benign Het
Ercc6 T A 14: 32,284,565 (GRCm39) I776N probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat4 G T 3: 39,050,353 (GRCm39) probably null Het
G3bp1 A G 11: 55,388,786 (GRCm39) R333G possibly damaging Het
Gm3604 A G 13: 62,517,204 (GRCm39) F385L probably benign Het
Gm5800 T C 14: 51,951,157 (GRCm39) I147M possibly damaging Het
Hipk1 A G 3: 103,685,561 (GRCm39) F18S unknown Het
Ighv3-8 A T 12: 114,285,950 (GRCm39) C131S probably benign Het
Il23r T G 6: 67,400,477 (GRCm39) T618P probably damaging Het
Il31ra G A 13: 112,664,063 (GRCm39) T538I possibly damaging Het
Kcns2 A G 15: 34,840,059 (GRCm39) D474G unknown Het
Klc4 T C 17: 46,947,155 (GRCm39) T407A possibly damaging Het
Klra5 C T 6: 129,888,420 (GRCm39) S2N probably benign Het
Krt10 T C 11: 99,279,677 (GRCm39) Y161C probably damaging Het
Kxd1 A T 8: 70,975,928 (GRCm39) M1K probably null Het
Lgals1 A C 15: 78,812,240 (GRCm39) D27A possibly damaging Het
Lgr5 T C 10: 115,302,251 (GRCm39) S308G probably benign Het
Lrp1 G A 10: 127,392,857 (GRCm39) S2736L probably benign Het
Lrpap1 G T 5: 35,259,880 (GRCm39) H73N probably benign Het
Mcpt1 C A 14: 56,256,522 (GRCm39) T86K probably damaging Het
Megf6 A T 4: 154,339,044 (GRCm39) D527V probably damaging Het
Mical3 A T 6: 120,936,351 (GRCm39) S1392T probably benign Het
Mmp2 A T 8: 93,566,010 (GRCm39) D437V probably damaging Het
Mob4 T A 1: 55,191,881 (GRCm39) Y166* probably null Het
Mrap2 G A 9: 87,064,527 (GRCm39) M89I possibly damaging Het
Mug1 G A 6: 121,858,746 (GRCm39) A1155T probably damaging Het
Myh2 G T 11: 67,084,044 (GRCm39) A1556S probably benign Het
Nfatc3 A G 8: 106,845,954 (GRCm39) D1028G probably benign Het
Ngef T G 1: 87,430,985 (GRCm39) probably null Het
Nlrp1a A T 11: 70,983,339 (GRCm39) L1209Q probably null Het
Npr2 C T 4: 43,647,553 (GRCm39) R819C probably damaging Het
Nsd2 A T 5: 34,036,454 (GRCm39) D646V probably damaging Het
Nsun7 A G 5: 66,434,415 (GRCm39) H252R probably damaging Het
Or2a25 T A 6: 42,888,791 (GRCm39) C111* probably null Het
Or2k2 A T 4: 58,785,647 (GRCm39) I25N possibly damaging Het
Or51a10 C T 7: 103,698,947 (GRCm39) V205I probably benign Het
Or8g32 A T 9: 39,305,156 (GRCm39) Q20L probably benign Het
Or8g32 G T 9: 39,305,157 (GRCm39) Q20H probably benign Het
Pcdhga2 A T 18: 37,803,638 (GRCm39) D494V probably damaging Het
Pcsk2 A G 2: 143,655,667 (GRCm39) E617G probably damaging Het
Pdc T C 1: 150,208,931 (GRCm39) I138T probably damaging Het
Phc2 T A 4: 128,641,927 (GRCm39) S750T probably damaging Het
Pkd2l1 T A 19: 44,179,947 (GRCm39) N88Y possibly damaging Het
Plcl1 C T 1: 55,445,757 (GRCm39) R71* probably null Het
Prag1 C A 8: 36,571,048 (GRCm39) L544M probably damaging Het
Prkg2 A G 5: 99,114,369 (GRCm39) probably null Het
Psd2 G A 18: 36,112,764 (GRCm39) S153N probably damaging Het
Rab11fip1 A T 8: 27,643,000 (GRCm39) S600T probably damaging Het
Slfn8 A T 11: 82,904,243 (GRCm39) Y382* probably null Het
Socs4 T A 14: 47,527,195 (GRCm39) C43* probably null Het
Sorl1 T A 9: 41,944,922 (GRCm39) T868S probably damaging Het
St6gal1 A G 16: 23,174,963 (GRCm39) Y267C probably damaging Het
Syne1 A G 10: 5,076,682 (GRCm39) V6879A probably benign Het
Syne2 C A 12: 75,900,906 (GRCm39) H22N possibly damaging Het
Tmeff2 T A 1: 50,967,180 (GRCm39) L25Q probably damaging Het
Tmprss11g G T 5: 86,635,285 (GRCm39) D396E probably benign Het
Tmprss11g T A 5: 86,635,295 (GRCm39) H393L probably benign Het
Vmn2r23 A G 6: 123,681,512 (GRCm39) E140G probably damaging Het
Wapl T C 14: 34,399,320 (GRCm39) S130P probably benign Het
Zeb2 T A 2: 44,884,541 (GRCm39) K982M probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp719 T C 7: 43,240,130 (GRCm39) S573P probably damaging Het
Zfp979 A T 4: 147,697,999 (GRCm39) C237S possibly damaging Het
Other mutations in Rbms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Rbms1 APN 2 60,628,049 (GRCm39) missense probably damaging 1.00
IGL01131:Rbms1 APN 2 60,589,180 (GRCm39) missense probably benign 0.00
IGL02565:Rbms1 APN 2 60,590,123 (GRCm39) missense probably benign
IGL02662:Rbms1 APN 2 60,592,650 (GRCm39) missense probably damaging 1.00
ANU74:Rbms1 UTSW 2 60,628,060 (GRCm39) missense probably damaging 1.00
R0077:Rbms1 UTSW 2 60,589,179 (GRCm39) missense possibly damaging 0.48
R0279:Rbms1 UTSW 2 60,672,754 (GRCm39) missense probably damaging 0.99
R0718:Rbms1 UTSW 2 60,672,756 (GRCm39) missense probably damaging 0.99
R1582:Rbms1 UTSW 2 60,589,179 (GRCm39) missense possibly damaging 0.48
R2151:Rbms1 UTSW 2 60,592,392 (GRCm39) splice site probably null
R4812:Rbms1 UTSW 2 60,623,113 (GRCm39) missense possibly damaging 0.74
R5109:Rbms1 UTSW 2 60,612,284 (GRCm39) missense probably damaging 1.00
R7513:Rbms1 UTSW 2 60,589,165 (GRCm39) missense probably damaging 1.00
R8362:Rbms1 UTSW 2 60,793,083 (GRCm39) missense probably benign 0.01
R8542:Rbms1 UTSW 2 60,612,265 (GRCm39) missense probably damaging 1.00
R9228:Rbms1 UTSW 2 60,610,087 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGGCAATACTGTATGGTGAAG -3'
(R):5'- TCCACCGGAGAGATTGGTTTC -3'

Sequencing Primer
(F):5'- GATACCTTCCACCTTCACTG -3'
(R):5'- CCGTAGCTTCCTGCAGTAATGG -3'
Posted On 2018-11-28