Incidental Mutation 'IGL01537:Rsrp1'
ID 90018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsrp1
Ensembl Gene ENSMUSG00000037266
Gene Name arginine/serine rich protein 1
Synonyms D4Ucla2, D4Wsu53e, 2700043I21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01537
Quality Score
Status
Chromosome 4
Chromosomal Location 134650936-134654681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134651290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 18 (P18L)
Ref Sequence ENSEMBL: ENSMUSP00000077226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078084]
AlphaFold Q3UC65
Predicted Effect unknown
Transcript: ENSMUST00000078084
AA Change: P18L
SMART Domains Protein: ENSMUSP00000077226
Gene: ENSMUSG00000037266
AA Change: P18L

DomainStartEndE-ValueType
Pfam:RSRP 6 298 5.9e-133 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154837
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 110,459,312 (GRCm39) R317G probably benign Het
B130006D01Rik T A 11: 95,616,992 (GRCm39) probably benign Het
Brinp2 T C 1: 158,074,379 (GRCm39) T581A probably damaging Het
Cacna1b A T 2: 24,548,540 (GRCm39) I1179N probably damaging Het
Cacnb3 A G 15: 98,541,301 (GRCm39) D434G probably damaging Het
Cdh19 T C 1: 110,847,341 (GRCm39) T423A possibly damaging Het
Chkb C T 15: 89,311,986 (GRCm39) probably benign Het
Cit T C 5: 116,071,913 (GRCm39) Y623H probably benign Het
Clstn3 G A 6: 124,408,559 (GRCm39) R918C possibly damaging Het
Dnah2 T A 11: 69,406,906 (GRCm39) M200L probably benign Het
Dnah9 T A 11: 65,838,506 (GRCm39) H3097L probably benign Het
Dst T A 1: 34,314,401 (GRCm39) L4217H probably damaging Het
Fam107b T A 2: 3,779,565 (GRCm39) L80Q probably damaging Het
Fgfr1 T A 8: 26,045,595 (GRCm39) C55S probably damaging Het
Igkv4-71 C A 6: 69,220,264 (GRCm39) G78* probably null Het
Igsf10 A G 3: 59,237,452 (GRCm39) S910P probably benign Het
Ikzf3 T C 11: 98,407,718 (GRCm39) D41G probably damaging Het
Larp1 T A 11: 57,933,648 (GRCm39) I358N possibly damaging Het
Marchf5 C T 19: 37,188,067 (GRCm39) probably benign Het
Mpdz T C 4: 81,287,895 (GRCm39) T455A probably damaging Het
Myo1b A G 1: 51,815,510 (GRCm39) V612A possibly damaging Het
Nipbl T C 15: 8,380,023 (GRCm39) D923G probably benign Het
Nlrp4b T C 7: 10,448,918 (GRCm39) F7L probably damaging Het
Npas4 T C 19: 5,037,355 (GRCm39) N313S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5 T A 9: 39,861,921 (GRCm39) T49S probably benign Het
Or13a22 A G 7: 140,072,751 (GRCm39) N67D probably damaging Het
Or4c107 T C 2: 88,788,885 (GRCm39) V25A probably benign Het
Pclo T C 5: 14,589,647 (GRCm39) V649A unknown Het
Pom121 A G 5: 135,421,389 (GRCm39) probably benign Het
Ptcd2 A T 13: 99,466,521 (GRCm39) I224N possibly damaging Het
Sash1 A T 10: 8,605,422 (GRCm39) N989K probably damaging Het
Scn2a T A 2: 65,546,219 (GRCm39) H927Q probably benign Het
Selenoi G T 5: 30,461,222 (GRCm39) V128F probably damaging Het
Slc25a42 T C 8: 70,642,092 (GRCm39) I117V probably benign Het
Spata1 A G 3: 146,195,558 (GRCm39) probably benign Het
Sptlc3 A T 2: 139,431,615 (GRCm39) Y379F possibly damaging Het
Tent4a A T 13: 69,648,678 (GRCm39) S693T probably benign Het
Tinag C T 9: 76,952,885 (GRCm39) R33K probably benign Het
Trappc8 T C 18: 20,968,061 (GRCm39) D1092G probably benign Het
Xntrpc A G 7: 101,722,401 (GRCm39) E22G probably damaging Het
Zbtb7b A G 3: 89,287,278 (GRCm39) M397T possibly damaging Het
Zgpat A G 2: 181,020,682 (GRCm39) D285G probably benign Het
Other mutations in Rsrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03065:Rsrp1 APN 4 134,651,700 (GRCm39) missense possibly damaging 0.95
R0735:Rsrp1 UTSW 4 134,651,568 (GRCm39) missense unknown
R1863:Rsrp1 UTSW 4 134,651,388 (GRCm39) missense unknown
R4670:Rsrp1 UTSW 4 134,651,488 (GRCm39) missense unknown
R5705:Rsrp1 UTSW 4 134,651,331 (GRCm39) missense unknown
R6020:Rsrp1 UTSW 4 134,651,692 (GRCm39) missense probably damaging 0.97
R6195:Rsrp1 UTSW 4 134,654,113 (GRCm39) missense probably damaging 1.00
R6233:Rsrp1 UTSW 4 134,654,113 (GRCm39) missense probably damaging 1.00
R7896:Rsrp1 UTSW 4 134,651,274 (GRCm39) missense unknown
R8143:Rsrp1 UTSW 4 134,654,319 (GRCm39) missense probably benign 0.13
R8695:Rsrp1 UTSW 4 134,652,610 (GRCm39) missense probably damaging 0.99
RF013:Rsrp1 UTSW 4 134,651,266 (GRCm39) missense unknown
X0021:Rsrp1 UTSW 4 134,654,070 (GRCm39) missense probably benign 0.09
Posted On 2013-12-03