Incidental Mutation 'IGL01820:Rgs14'
ID 154496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs14
Ensembl Gene ENSMUSG00000052087
Gene Name regulator of G-protein signaling 14
Synonyms Rap1/rap2 interacting protein
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL01820
Quality Score
Status
Chromosome 13
Chromosomal Location 55517545-55532500 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55531338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 448 (D448V)
Ref Sequence ENSEMBL: ENSMUSP00000068731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063771] [ENSMUST00000149858]
AlphaFold P97492
PDB Structure Solution structure of the Ras-binding domain of mouse RGS14 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000063771
AA Change: D448V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000068731
Gene: ENSMUSG00000052087
AA Change: D448V

DomainStartEndE-ValueType
RGS 67 184 3.42e-44 SMART
low complexity region 209 222 N/A INTRINSIC
low complexity region 289 299 N/A INTRINSIC
RBD 303 374 2e-26 SMART
RBD 376 446 4.53e-16 SMART
low complexity region 474 491 N/A INTRINSIC
GoLoco 500 522 1.74e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135851
Predicted Effect probably benign
Transcript: ENSMUST00000149858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224185
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in failure to complete the first zygotic cell division. Homozygous mutation of this gene with a second allele results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,765,896 (GRCm39) probably benign Het
Adcy2 T C 13: 68,886,664 (GRCm39) probably null Het
Akna G T 4: 63,304,495 (GRCm39) T553N probably benign Het
Boc A G 16: 44,312,235 (GRCm39) I609T possibly damaging Het
Btbd9 C T 17: 30,746,383 (GRCm39) V148I possibly damaging Het
Cacna1d A T 14: 29,764,823 (GRCm39) I2049N possibly damaging Het
Cdhr1 A T 14: 36,807,536 (GRCm39) M368K probably benign Het
Cftr A G 6: 18,226,138 (GRCm39) Y362C probably damaging Het
Cnppd1 G T 1: 75,116,236 (GRCm39) probably null Het
Col3a1 T C 1: 45,360,768 (GRCm39) I66T unknown Het
Col5a2 C A 1: 45,481,985 (GRCm39) M46I unknown Het
Csmd3 G T 15: 47,470,538 (GRCm39) C3379* probably null Het
Ctla2b T A 13: 61,044,503 (GRCm39) *28C probably null Het
Ddhd2 C T 8: 26,239,781 (GRCm39) E33K possibly damaging Het
Dock3 T C 9: 106,773,092 (GRCm39) H387R probably damaging Het
Dyrk1b T A 7: 27,881,025 (GRCm39) probably benign Het
Fam131c T C 4: 141,107,648 (GRCm39) C53R probably damaging Het
Fat1 T A 8: 45,463,539 (GRCm39) F1360L probably damaging Het
Gm10320 G T 13: 98,626,045 (GRCm39) S113* probably null Het
Ifih1 T C 2: 62,447,657 (GRCm39) D349G probably damaging Het
Il12a T C 3: 68,599,495 (GRCm39) probably benign Het
Ivl A T 3: 92,478,940 (GRCm39) M375K possibly damaging Het
Krt82 C A 15: 101,451,887 (GRCm39) probably benign Het
Mc4r C T 18: 66,992,226 (GRCm39) V296I probably benign Het
Met T A 6: 17,534,230 (GRCm39) I691N possibly damaging Het
Mycbp2 A T 14: 103,425,937 (GRCm39) I2396K probably damaging Het
Napg C A 18: 63,119,516 (GRCm39) Q135K probably benign Het
Nf2 A T 11: 4,739,655 (GRCm39) probably null Het
Nrxn1 G T 17: 90,950,531 (GRCm39) H549Q probably damaging Het
P4ha1 T A 10: 59,197,736 (GRCm39) I321K probably damaging Het
Prl5a1 T C 13: 28,332,683 (GRCm39) S94P probably benign Het
Prnp T C 2: 131,778,990 (GRCm39) V214A probably benign Het
Ptprc A T 1: 137,993,936 (GRCm39) F1165I probably damaging Het
Rdh10 T C 1: 16,198,483 (GRCm39) V207A possibly damaging Het
Rel A T 11: 23,703,218 (GRCm39) N131K probably benign Het
Spag5 T G 11: 78,195,085 (GRCm39) S131A probably benign Het
Styxl1 C T 5: 135,794,604 (GRCm39) D88N probably damaging Het
Tlr3 C T 8: 45,851,376 (GRCm39) R507H probably benign Het
Ttn C T 2: 76,616,670 (GRCm39) E16528K possibly damaging Het
Txlnb T C 10: 17,682,606 (GRCm39) probably null Het
Unc13a A G 8: 72,107,591 (GRCm39) V567A probably damaging Het
Vmn1r8 T C 6: 57,013,653 (GRCm39) S235P possibly damaging Het
Vmn2r51 T A 7: 9,839,409 (GRCm39) N60Y probably damaging Het
Wbp1l T A 19: 46,640,922 (GRCm39) L68Q probably damaging Het
Wdfy3 A T 5: 102,071,947 (GRCm39) V981E probably benign Het
Zdhhc13 T C 7: 48,458,613 (GRCm39) S316P probably damaging Het
Zfp516 C T 18: 83,005,486 (GRCm39) R797C probably benign Het
Zp3r A G 1: 130,526,657 (GRCm39) V182A probably benign Het
Other mutations in Rgs14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02691:Rgs14 APN 13 55,526,836 (GRCm39) splice site probably null
R1655:Rgs14 UTSW 13 55,531,347 (GRCm39) missense probably benign 0.00
R1716:Rgs14 UTSW 13 55,526,696 (GRCm39) missense probably damaging 0.99
R1839:Rgs14 UTSW 13 55,530,651 (GRCm39) unclassified probably benign
R2014:Rgs14 UTSW 13 55,531,513 (GRCm39) nonsense probably null
R3851:Rgs14 UTSW 13 55,527,427 (GRCm39) missense possibly damaging 0.77
R4008:Rgs14 UTSW 13 55,517,726 (GRCm39) missense probably damaging 0.99
R4299:Rgs14 UTSW 13 55,531,566 (GRCm39) missense probably damaging 1.00
R4572:Rgs14 UTSW 13 55,527,875 (GRCm39) missense probably damaging 0.96
R4801:Rgs14 UTSW 13 55,528,770 (GRCm39) missense probably damaging 1.00
R4802:Rgs14 UTSW 13 55,528,770 (GRCm39) missense probably damaging 1.00
R7136:Rgs14 UTSW 13 55,527,508 (GRCm39) splice site probably null
R7142:Rgs14 UTSW 13 55,527,417 (GRCm39) missense probably damaging 0.99
R7207:Rgs14 UTSW 13 55,531,047 (GRCm39) missense probably benign 0.00
R7701:Rgs14 UTSW 13 55,527,138 (GRCm39) missense probably damaging 1.00
R8021:Rgs14 UTSW 13 55,531,569 (GRCm39) missense probably damaging 0.97
R8405:Rgs14 UTSW 13 55,530,962 (GRCm39) missense probably damaging 1.00
R8985:Rgs14 UTSW 13 55,531,234 (GRCm39) unclassified probably benign
R9120:Rgs14 UTSW 13 55,528,792 (GRCm39) missense probably damaging 1.00
R9706:Rgs14 UTSW 13 55,531,934 (GRCm39) missense probably benign 0.01
R9731:Rgs14 UTSW 13 55,528,784 (GRCm39) nonsense probably null
Posted On 2014-02-04