Incidental Mutation 'R0152:Cgrrf1'
ID22801
Institutional Source Beutler Lab
Gene Symbol Cgrrf1
Ensembl Gene ENSMUSG00000055128
Gene Namecell growth regulator with ring finger domain 1
Synonyms1810009H17Rik, CGR19, 1110038G02Rik
MMRRC Submission 038435-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0152 (G1)
Quality Score225
Status Validated (trace)
Chromosome14
Chromosomal Location46832125-46854193 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 46853913 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 298 (C298Y)
Ref Sequence ENSEMBL: ENSMUSP00000070548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068532] [ENSMUST00000226861]
Predicted Effect probably damaging
Transcript: ENSMUST00000068532
AA Change: C298Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070548
Gene: ENSMUSG00000055128
AA Change: C298Y

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 233 246 N/A INTRINSIC
RING 274 308 2.26e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226861
Meta Mutation Damage Score 0.9587 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,689 D834G probably damaging Het
Abca13 T A 11: 9,581,724 H4650Q probably damaging Het
Aqr T A 2: 114,159,010 T111S probably benign Het
Arfip2 G A 7: 105,637,223 T124M probably damaging Het
Arhgap44 G T 11: 65,011,919 A574E probably benign Het
Arhgef26 T C 3: 62,423,544 S560P probably damaging Het
Car5a T A 8: 121,916,446 N273I probably damaging Het
Cd4 G A 6: 124,867,746 Q359* probably null Het
Clip3 G A 7: 30,303,432 A416T probably benign Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Eif3e G A 15: 43,252,236 A378V possibly damaging Het
Ercc6 C G 14: 32,546,905 probably benign Het
Eri2 A G 7: 119,790,383 V104A probably damaging Het
Exph5 T A 9: 53,353,204 probably null Het
Hmcn1 A T 1: 150,663,879 Y2954N probably benign Het
Itga2 C T 13: 114,866,314 G547R probably benign Het
Kbtbd11 T C 8: 15,027,428 V9A probably damaging Het
Ldb2 T C 5: 44,541,799 D99G possibly damaging Het
Mfsd12 G T 10: 81,357,799 D68Y probably damaging Het
Mgarp T C 3: 51,388,963 D228G probably benign Het
Myh14 A T 7: 44,623,181 L1441Q probably damaging Het
Obscn T C 11: 59,052,576 D4810G probably benign Het
Olfr1331 T A 4: 118,868,886 I34N possibly damaging Het
Olfr1448 A G 19: 12,920,108 V67A possibly damaging Het
Olfr293 A T 7: 86,664,511 Y283F probably damaging Het
Olfr372 C T 8: 72,058,400 T240M probably damaging Het
Olfr948 A G 9: 39,319,461 I51T probably benign Het
Pdhx A G 2: 103,028,280 V393A probably benign Het
Pdpk1 C T 17: 24,106,946 R92H possibly damaging Het
Pgr A T 9: 8,965,022 I889F probably benign Het
Pum2 T A 12: 8,728,754 I468K possibly damaging Het
Recql5 A G 11: 115,894,673 S666P probably benign Het
Rims4 C T 2: 163,863,929 V262M possibly damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc26a4 T C 12: 31,529,498 I588M probably damaging Het
Slc9a2 A G 1: 40,742,804 T398A probably damaging Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Tub A T 7: 109,020,927 N93Y probably damaging Het
Usp3 T C 9: 66,540,150 T181A probably damaging Het
Vars2 A G 17: 35,660,027 L637P probably damaging Het
Vmn2r1 T C 3: 64,081,819 S60P possibly damaging Het
Wdcp A G 12: 4,851,583 S480G probably benign Het
Zbtb38 T C 9: 96,686,280 Y917C probably damaging Het
Zfp68 T C 5: 138,606,613 K445E probably damaging Het
Zmynd10 A G 9: 107,550,945 probably null Het
Other mutations in Cgrrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Cgrrf1 APN 14 46832322 missense probably damaging 0.99
IGL02507:Cgrrf1 APN 14 46853444 nonsense probably null
IGL03298:Cgrrf1 APN 14 46846321 missense probably benign 0.08
R1477:Cgrrf1 UTSW 14 46853438 missense probably benign 0.12
R2020:Cgrrf1 UTSW 14 46830445 unclassified probably benign
R2107:Cgrrf1 UTSW 14 46853376 splice site probably benign
R3010:Cgrrf1 UTSW 14 46853766 missense probably benign
R3801:Cgrrf1 UTSW 14 46832363 missense probably damaging 1.00
R4296:Cgrrf1 UTSW 14 46832355 missense probably damaging 0.99
R4681:Cgrrf1 UTSW 14 46853826 missense probably benign 0.00
R4884:Cgrrf1 UTSW 14 46853455 missense possibly damaging 0.82
R6010:Cgrrf1 UTSW 14 46853701 missense probably damaging 0.99
R6299:Cgrrf1 UTSW 14 46840190 missense probably damaging 1.00
R6861:Cgrrf1 UTSW 14 46832328 missense probably damaging 1.00
R6932:Cgrrf1 UTSW 14 46853722 missense probably benign 0.09
R6986:Cgrrf1 UTSW 14 46832129 unclassified probably benign
R7132:Cgrrf1 UTSW 14 46853864 missense probably damaging 1.00
R7152:Cgrrf1 UTSW 14 46853477 nonsense probably null
R7694:Cgrrf1 UTSW 14 46853958 missense possibly damaging 0.79
R8081:Cgrrf1 UTSW 14 46854011 missense probably benign 0.03
R8158:Cgrrf1 UTSW 14 46853735 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTCCAGAAGACAGAAGTGTGGAGC -3'
(R):5'- CAAAGACAGTGTCCAGCATTTGCC -3'

Sequencing Primer
(F):5'- CAGAGCTTGTTGGAGAAGGTG -3'
(R):5'- CTCCGACAGTTAAGACTGTAGATTC -3'
Posted On2013-04-16