Incidental Mutation 'IGL03050:Rgsl1'
ID 453419
Institutional Source Beutler Lab
Gene Symbol Rgsl1
Ensembl Gene ENSMUSG00000042641
Gene Name regulator of G-protein signaling like 1
Synonyms 4930415K13Rik, Rgsl2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03050 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 153655127-153719888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 153701422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 379 (S379F)
Ref Sequence ENSEMBL: ENSMUSP00000139340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124558] [ENSMUST00000185164]
AlphaFold A0A5F8MPV0
Predicted Effect probably benign
Transcript: ENSMUST00000124558
AA Change: S344F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: S344F

DomainStartEndE-ValueType
low complexity region 122 136 N/A INTRINSIC
low complexity region 242 254 N/A INTRINSIC
low complexity region 316 325 N/A INTRINSIC
Pfam:RGS 644 754 7.1e-12 PFAM
transmembrane domain 956 973 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134030
Predicted Effect probably benign
Transcript: ENSMUST00000184095
Predicted Effect possibly damaging
Transcript: ENSMUST00000185164
AA Change: S379F

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: S379F

DomainStartEndE-ValueType
low complexity region 157 171 N/A INTRINSIC
low complexity region 277 289 N/A INTRINSIC
low complexity region 351 360 N/A INTRINSIC
Pfam:RGS 679 789 4.1e-11 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Ankrd2 G A 19: 42,028,533 (GRCm39) R63H probably damaging Het
Bbs2 C A 8: 94,801,041 (GRCm39) probably benign Het
Btbd7 G T 12: 102,779,065 (GRCm39) D400E probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Col17a1 C T 19: 47,636,537 (GRCm39) probably null Het
Col3a1 A G 1: 45,368,085 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Dpp8 C G 9: 64,962,118 (GRCm39) S386C probably benign Het
Dscaml1 A C 9: 45,654,297 (GRCm39) D1443A probably damaging Het
Dsp T C 13: 38,372,421 (GRCm39) probably benign Het
Elf2 C T 3: 51,165,038 (GRCm39) R262Q probably benign Het
Fat3 G A 9: 15,907,896 (GRCm39) S2702F probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gabrb1 T A 5: 72,279,497 (GRCm39) S347R probably benign Het
Hivep1 T C 13: 42,309,604 (GRCm39) S615P probably benign Het
Kcnq3 T C 15: 65,897,027 (GRCm39) D291G possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mirt1 A G 19: 53,433,710 (GRCm39) noncoding transcript Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mug1 T A 6: 121,857,530 (GRCm39) S1085T possibly damaging Het
Myo18a A T 11: 77,709,596 (GRCm39) T190S probably benign Het
Myo5a G A 9: 75,054,191 (GRCm39) probably null Het
Or1ak2 T A 2: 36,827,635 (GRCm39) F168Y probably damaging Het
Or1l8 A T 2: 36,817,820 (GRCm39) M102K probably damaging Het
Or1m1 A T 9: 18,666,750 (GRCm39) Y60* probably null Het
Or5an1 G T 19: 12,260,876 (GRCm39) V155L probably benign Het
Or9g3 A G 2: 85,589,785 (GRCm39) *312Q probably null Het
Relch T A 1: 105,654,106 (GRCm39) V825E probably damaging Het
Rgma G A 7: 73,067,263 (GRCm39) V173M probably damaging Het
Sec16a T A 2: 26,305,759 (GRCm39) D2215V probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Ttyh2 T A 11: 114,599,680 (GRCm39) L370Q probably damaging Het
Ugt8a T C 3: 125,669,139 (GRCm39) R322G possibly damaging Het
Vmn2r97 T C 17: 19,167,900 (GRCm39) M718T possibly damaging Het
Zhx2 T C 15: 57,686,229 (GRCm39) F533L possibly damaging Het
Other mutations in Rgsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Rgsl1 APN 1 153,701,887 (GRCm39) missense probably damaging 1.00
IGL02253:Rgsl1 APN 1 153,669,513 (GRCm39) missense probably damaging 1.00
IGL02345:Rgsl1 APN 1 153,679,755 (GRCm39) splice site probably null
IGL02409:Rgsl1 APN 1 153,701,989 (GRCm39) missense possibly damaging 0.53
IGL02587:Rgsl1 APN 1 153,675,684 (GRCm39) missense probably damaging 1.00
IGL02652:Rgsl1 APN 1 153,701,236 (GRCm39) missense probably damaging 1.00
IGL02797:Rgsl1 APN 1 153,683,454 (GRCm39) missense probably damaging 1.00
IGL03032:Rgsl1 APN 1 153,701,948 (GRCm39) missense possibly damaging 0.53
IGL03082:Rgsl1 APN 1 153,675,693 (GRCm39) missense possibly damaging 0.86
IGL03123:Rgsl1 APN 1 153,701,687 (GRCm39) missense probably damaging 1.00
IGL03213:Rgsl1 APN 1 153,701,587 (GRCm39) missense probably benign 0.12
IGL03410:Rgsl1 APN 1 153,669,501 (GRCm39) missense probably null 0.82
Bam UTSW 1 153,669,898 (GRCm39) missense probably benign 0.00
Candygram UTSW 1 153,697,245 (GRCm39) nonsense probably null
wham UTSW 1 153,678,038 (GRCm39) missense probably benign 0.02
PIT4519001:Rgsl1 UTSW 1 153,701,716 (GRCm39) missense possibly damaging 0.96
R0149:Rgsl1 UTSW 1 153,669,510 (GRCm39) missense probably damaging 1.00
R0536:Rgsl1 UTSW 1 153,701,927 (GRCm39) missense probably damaging 1.00
R0633:Rgsl1 UTSW 1 153,719,853 (GRCm39) missense possibly damaging 0.72
R0726:Rgsl1 UTSW 1 153,678,074 (GRCm39) missense probably damaging 1.00
R0839:Rgsl1 UTSW 1 153,677,980 (GRCm39) critical splice donor site probably null
R1240:Rgsl1 UTSW 1 153,660,937 (GRCm39) missense probably benign 0.18
R1355:Rgsl1 UTSW 1 153,683,507 (GRCm39) start codon destroyed probably null 0.23
R1491:Rgsl1 UTSW 1 153,701,672 (GRCm39) missense possibly damaging 0.93
R1688:Rgsl1 UTSW 1 153,680,422 (GRCm39) missense probably damaging 0.98
R1694:Rgsl1 UTSW 1 153,680,422 (GRCm39) missense probably damaging 0.98
R1842:Rgsl1 UTSW 1 153,675,543 (GRCm39) missense probably damaging 1.00
R2008:Rgsl1 UTSW 1 153,701,651 (GRCm39) missense possibly damaging 0.53
R2114:Rgsl1 UTSW 1 153,693,295 (GRCm39) missense probably benign
R2116:Rgsl1 UTSW 1 153,693,295 (GRCm39) missense probably benign
R2176:Rgsl1 UTSW 1 153,701,014 (GRCm39) splice site probably benign
R2229:Rgsl1 UTSW 1 153,698,104 (GRCm39) missense possibly damaging 0.72
R2895:Rgsl1 UTSW 1 153,703,294 (GRCm39) missense probably damaging 1.00
R3923:Rgsl1 UTSW 1 153,679,876 (GRCm39) critical splice acceptor site probably null
R4001:Rgsl1 UTSW 1 153,693,330 (GRCm39) missense probably damaging 1.00
R4434:Rgsl1 UTSW 1 153,678,087 (GRCm39) missense possibly damaging 0.52
R4489:Rgsl1 UTSW 1 153,703,282 (GRCm39) missense probably benign 0.27
R4649:Rgsl1 UTSW 1 153,693,328 (GRCm39) missense probably benign 0.01
R4925:Rgsl1 UTSW 1 153,688,023 (GRCm39) missense probably benign 0.01
R4928:Rgsl1 UTSW 1 153,669,514 (GRCm39) missense probably damaging 1.00
R5045:Rgsl1 UTSW 1 153,697,268 (GRCm39) nonsense probably null
R5304:Rgsl1 UTSW 1 153,703,238 (GRCm39) missense probably damaging 0.97
R5331:Rgsl1 UTSW 1 153,678,038 (GRCm39) missense probably benign 0.02
R5373:Rgsl1 UTSW 1 153,666,053 (GRCm39) missense probably benign 0.33
R5374:Rgsl1 UTSW 1 153,666,053 (GRCm39) missense probably benign 0.33
R5566:Rgsl1 UTSW 1 153,669,520 (GRCm39) missense probably damaging 1.00
R5649:Rgsl1 UTSW 1 153,701,639 (GRCm39) missense possibly damaging 0.93
R6062:Rgsl1 UTSW 1 153,675,618 (GRCm39) missense possibly damaging 0.72
R6142:Rgsl1 UTSW 1 153,687,984 (GRCm39) missense probably benign 0.01
R6158:Rgsl1 UTSW 1 153,679,767 (GRCm39) missense possibly damaging 0.72
R6184:Rgsl1 UTSW 1 153,703,194 (GRCm39) missense probably benign 0.08
R6273:Rgsl1 UTSW 1 153,703,211 (GRCm39) missense possibly damaging 0.96
R6384:Rgsl1 UTSW 1 153,703,291 (GRCm39) missense possibly damaging 0.86
R6419:Rgsl1 UTSW 1 153,698,117 (GRCm39) missense probably damaging 0.98
R6568:Rgsl1 UTSW 1 153,697,292 (GRCm39) missense possibly damaging 0.72
R6660:Rgsl1 UTSW 1 153,701,512 (GRCm39) missense possibly damaging 0.70
R6745:Rgsl1 UTSW 1 153,698,063 (GRCm39) missense probably benign 0.18
R6892:Rgsl1 UTSW 1 153,697,245 (GRCm39) nonsense probably null
R6974:Rgsl1 UTSW 1 153,675,568 (GRCm39) missense probably damaging 1.00
R7172:Rgsl1 UTSW 1 153,701,966 (GRCm39) missense possibly damaging 0.72
R7200:Rgsl1 UTSW 1 153,660,945 (GRCm39) missense probably benign 0.33
R7275:Rgsl1 UTSW 1 153,679,876 (GRCm39) critical splice acceptor site probably null
R7313:Rgsl1 UTSW 1 153,683,622 (GRCm39) critical splice acceptor site probably null
R7341:Rgsl1 UTSW 1 153,669,591 (GRCm39) missense probably benign 0.01
R7448:Rgsl1 UTSW 1 153,719,847 (GRCm39) critical splice donor site probably null
R7662:Rgsl1 UTSW 1 153,701,225 (GRCm39) missense probably benign
R7703:Rgsl1 UTSW 1 153,669,610 (GRCm39) missense possibly damaging 0.73
R7846:Rgsl1 UTSW 1 153,701,783 (GRCm39) missense possibly damaging 0.53
R8408:Rgsl1 UTSW 1 153,701,435 (GRCm39) missense possibly damaging 0.96
R8860:Rgsl1 UTSW 1 153,697,100 (GRCm39) nonsense probably null
R8894:Rgsl1 UTSW 1 153,698,119 (GRCm39) critical splice acceptor site probably null
R9043:Rgsl1 UTSW 1 153,717,567 (GRCm39) missense possibly damaging 0.73
R9187:Rgsl1 UTSW 1 153,669,613 (GRCm39) missense possibly damaging 0.53
R9280:Rgsl1 UTSW 1 153,669,898 (GRCm39) missense probably benign 0.00
R9326:Rgsl1 UTSW 1 153,679,768 (GRCm39) missense probably benign 0.01
R9388:Rgsl1 UTSW 1 153,693,355 (GRCm39) missense probably benign
R9479:Rgsl1 UTSW 1 153,657,445 (GRCm39) missense unknown
X0020:Rgsl1 UTSW 1 153,701,131 (GRCm39) missense probably benign 0.33
X0065:Rgsl1 UTSW 1 153,679,779 (GRCm39) missense possibly damaging 0.84
Z1177:Rgsl1 UTSW 1 153,701,734 (GRCm39) missense not run
Z1177:Rgsl1 UTSW 1 153,693,356 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- GATGAAATGCTGTAGGTCCTGC -3'
(R):5'- GCCCCAAGAAGAACTGAGTC -3'

Sequencing Primer
(F):5'- ATGCTGTAGGTCCTGCCAAAG -3'
(R):5'- GAGTCTTCCAGAAAGGGTAGTTTTAC -3'
Posted On 2017-02-08