Incidental Mutation 'R4860:Garin5b'
ID 374480
Institutional Source Beutler Lab
Gene Symbol Garin5b
Ensembl Gene ENSMUSG00000092518
Gene Name golgi associated RAB2 interactor family member 5B
Synonyms Fam71e2, 4930401F20Rik
MMRRC Submission 042471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4860 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4756225-4774301 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 4760468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063324] [ENSMUST00000163574] [ENSMUST00000174409] [ENSMUST00000174409] [ENSMUST00000182048] [ENSMUST00000182111] [ENSMUST00000182173] [ENSMUST00000183971] [ENSMUST00000184143] [ENSMUST00000183334] [ENSMUST00000182738]
AlphaFold L7N480
Predicted Effect probably benign
Transcript: ENSMUST00000063324
SMART Domains Protein: ENSMUSP00000064988
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 85 2.7e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108580
SMART Domains Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Pfam:DUF3699 99 172 6.5e-23 PFAM
low complexity region 282 296 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163574
SMART Domains Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174409
SMART Domains Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:DUF3699 93 168 5.8e-24 PFAM
low complexity region 277 291 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174409
SMART Domains Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:DUF3699 93 168 5.8e-24 PFAM
low complexity region 277 291 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182048
SMART Domains Protein: ENSMUSP00000138765
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 85 2.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182111
SMART Domains Protein: ENSMUSP00000138709
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 85 2.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182272
Predicted Effect probably benign
Transcript: ENSMUST00000182173
SMART Domains Protein: ENSMUSP00000138288
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 74 5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183971
SMART Domains Protein: ENSMUSP00000138911
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 75 1.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184143
SMART Domains Protein: ENSMUSP00000139239
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 60 2.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183334
Predicted Effect probably benign
Transcript: ENSMUST00000182738
SMART Domains Protein: ENSMUSP00000138744
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 74 5.9e-11 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,209,267 (GRCm39) S466P possibly damaging Het
Ablim1 T C 19: 57,068,298 (GRCm39) T267A probably damaging Het
Acap2 A T 16: 30,922,317 (GRCm39) L724Q possibly damaging Het
Acsbg3 A G 17: 57,195,655 (GRCm39) N684S probably benign Het
Adcy4 T C 14: 56,019,384 (GRCm39) T89A possibly damaging Het
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Ajm1 T C 2: 25,468,765 (GRCm39) Y382C probably damaging Het
Akr1d1 G A 6: 37,541,426 (GRCm39) V308M probably damaging Het
Ap1m2 C T 9: 21,220,970 (GRCm39) R54Q probably benign Het
Arhgap45 T A 10: 79,862,900 (GRCm39) V692E probably damaging Het
Arid5b G T 10: 68,078,925 (GRCm39) N137K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
BC048679 T C 7: 81,145,468 (GRCm39) N27D probably benign Het
Ccdc78 A G 17: 26,007,674 (GRCm39) N237S probably benign Het
Cd46 G A 1: 194,744,704 (GRCm39) L345F possibly damaging Het
Cngb3 A T 4: 19,425,569 (GRCm39) N459I possibly damaging Het
Ctnnd2 A G 15: 30,881,313 (GRCm39) E731G probably damaging Het
Ctsh A G 9: 89,936,601 (GRCm39) E26G probably benign Het
Cul1 G T 6: 47,494,080 (GRCm39) K464N probably benign Het
Cul1 T A 6: 47,494,125 (GRCm39) S479R probably damaging Het
Dcaf5 A T 12: 80,387,006 (GRCm39) D373E probably benign Het
Dhcr7 A G 7: 143,394,237 (GRCm39) Q126R probably benign Het
Dok2 T C 14: 71,014,956 (GRCm39) F228L probably damaging Het
Dpep3 T G 8: 106,702,821 (GRCm39) I314L probably benign Het
Eps8 A G 6: 137,491,293 (GRCm39) F362L probably damaging Het
Espn G T 4: 152,223,303 (GRCm39) R250S probably damaging Het
Faf1 A C 4: 109,600,093 (GRCm39) N163H probably damaging Het
Fcho1 C T 8: 72,163,125 (GRCm39) V635I probably benign Het
Gask1b C A 3: 79,843,981 (GRCm39) S36* probably null Het
Gm7579 G A 7: 141,765,645 (GRCm39) C17Y unknown Het
Gpx8 G T 13: 113,182,042 (GRCm39) Y130* probably null Het
Gvin1 A T 7: 105,762,643 (GRCm39) Y609N possibly damaging Het
Hectd4 T A 5: 121,443,881 (GRCm39) M30K probably benign Het
Iqub T C 6: 24,450,841 (GRCm39) D586G probably damaging Het
Klhl25 T C 7: 75,516,798 (GRCm39) I568T probably benign Het
Larp6 A G 9: 60,645,093 (GRCm39) E411G probably damaging Het
Lepr A C 4: 101,646,534 (GRCm39) I822L probably benign Het
Lrig3 C A 10: 125,846,921 (GRCm39) D896E probably benign Het
Lrp1 C T 10: 127,389,693 (GRCm39) G3114D probably damaging Het
Lyset A T 12: 102,710,314 (GRCm39) probably benign Het
Macf1 A T 4: 123,380,543 (GRCm39) Y1263N probably damaging Het
Mapk10 T C 5: 103,138,485 (GRCm39) D180G probably damaging Het
Matr3 T A 18: 35,714,693 (GRCm39) V113E probably damaging Het
Mbd4 A T 6: 115,825,887 (GRCm39) F368Y possibly damaging Het
Mcpt8 G A 14: 56,319,737 (GRCm39) R238W probably benign Het
Mcrip2 G T 17: 26,083,621 (GRCm39) T86N possibly damaging Het
Mink1 A G 11: 70,502,418 (GRCm39) N1043S probably damaging Het
Muc4 G A 16: 32,754,616 (GRCm38) G1497R probably benign Het
Muc4 T A 16: 32,754,625 (GRCm38) S1500T probably benign Het
Nbeal2 G A 9: 110,464,262 (GRCm39) T1128I probably benign Het
Nrg2 T A 18: 36,329,600 (GRCm39) Y205F probably damaging Het
Nubp2 A G 17: 25,103,430 (GRCm39) M149T probably benign Het
Or4d2b T A 11: 87,780,051 (GRCm39) M224L probably damaging Het
Or8d6 G T 9: 39,853,800 (GRCm39) M81I probably benign Het
Or8j3c T C 2: 86,253,301 (GRCm39) T240A probably damaging Het
Pax3 A G 1: 78,169,093 (GRCm39) I191T possibly damaging Het
Pdcd5 T C 7: 35,343,135 (GRCm39) N137D possibly damaging Het
Pik3c2a G A 7: 115,939,391 (GRCm39) A1649V probably damaging Het
Pkhd1l1 T C 15: 44,400,774 (GRCm39) S2183P possibly damaging Het
Plekho1 T A 3: 95,896,305 (GRCm39) Q388L possibly damaging Het
Ppfibp1 A G 6: 146,892,012 (GRCm39) T91A probably benign Het
Ptger4 G T 15: 5,272,087 (GRCm39) N177K probably benign Het
Reln A G 5: 22,106,749 (GRCm39) F3207S probably benign Het
Rigi G T 4: 40,210,000 (GRCm39) S644R probably damaging Het
Ripk4 C T 16: 97,552,736 (GRCm39) R194H probably damaging Het
Rnf112 A T 11: 61,343,570 (GRCm39) C112S possibly damaging Het
Rprd1b T G 2: 157,916,855 (GRCm39) Y278* probably null Het
Sel1l A G 12: 91,798,376 (GRCm39) L140P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc38a3 A G 9: 107,532,263 (GRCm39) V423A probably damaging Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Slmap A T 14: 26,181,364 (GRCm39) V323E probably benign Het
Smim6 T C 11: 115,804,330 (GRCm39) V39A probably benign Het
Sorbs1 T C 19: 40,325,449 (GRCm39) T382A probably benign Het
Sparc G A 11: 55,290,037 (GRCm39) T218I possibly damaging Het
Steap1 A T 5: 5,786,589 (GRCm39) F283I probably damaging Het
Stil A G 4: 114,895,671 (GRCm39) T586A probably benign Het
Tbce T A 13: 14,194,380 (GRCm39) D93V probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Tex55 A G 16: 38,648,507 (GRCm39) S201P probably damaging Het
Tle4 A T 19: 14,441,709 (GRCm39) I435K probably benign Het
Tmem245 A G 4: 56,899,164 (GRCm39) F254S probably damaging Het
Tubgcp3 T C 8: 12,699,722 (GRCm39) K377R probably benign Het
Ush2a A T 1: 188,285,472 (GRCm39) T2003S probably benign Het
Usp53 A G 3: 122,755,012 (GRCm39) S32P possibly damaging Het
Vmn1r78 T A 7: 11,886,683 (GRCm39) L98Q probably damaging Het
Vmn2r116 A C 17: 23,620,777 (GRCm39) Q837P probably benign Het
Vmn2r3 T C 3: 64,183,022 (GRCm39) I226V probably benign Het
Vmn2r84 T A 10: 130,221,712 (GRCm39) D836V probably damaging Het
Vps13d A G 4: 144,813,731 (GRCm39) F165L probably benign Het
Vstm4 A G 14: 32,585,742 (GRCm39) E103G possibly damaging Het
Zfp870 A T 17: 33,102,314 (GRCm39) C339* probably null Het
Other mutations in Garin5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Garin5b APN 7 4,760,526 (GRCm39) missense probably damaging 0.99
IGL01622:Garin5b APN 7 4,761,722 (GRCm39) missense probably benign 0.16
IGL01623:Garin5b APN 7 4,761,722 (GRCm39) missense probably benign 0.16
IGL01944:Garin5b APN 7 4,773,694 (GRCm39) missense possibly damaging 0.94
IGL03013:Garin5b APN 7 4,761,632 (GRCm39) missense probably benign 0.14
IGL03029:Garin5b APN 7 4,760,839 (GRCm39) missense possibly damaging 0.78
R0153:Garin5b UTSW 7 4,773,286 (GRCm39) missense probably damaging 0.99
R0523:Garin5b UTSW 7 4,762,392 (GRCm39) missense possibly damaging 0.74
R0981:Garin5b UTSW 7 4,760,588 (GRCm39) splice site probably null
R1428:Garin5b UTSW 7 4,760,687 (GRCm39) missense possibly damaging 0.68
R1736:Garin5b UTSW 7 4,761,153 (GRCm39) missense probably damaging 1.00
R1929:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R1993:Garin5b UTSW 7 4,761,017 (GRCm39) missense probably damaging 1.00
R2016:Garin5b UTSW 7 4,762,397 (GRCm39) missense probably damaging 1.00
R2256:Garin5b UTSW 7 4,774,020 (GRCm39) missense probably benign 0.01
R2270:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R2271:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R2272:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R4288:Garin5b UTSW 7 4,773,722 (GRCm39) missense possibly damaging 0.91
R4653:Garin5b UTSW 7 4,761,054 (GRCm39) missense possibly damaging 0.95
R4812:Garin5b UTSW 7 4,762,071 (GRCm39) missense probably damaging 1.00
R4860:Garin5b UTSW 7 4,760,468 (GRCm39) critical splice donor site probably null
R5037:Garin5b UTSW 7 4,761,575 (GRCm39) missense possibly damaging 0.64
R5044:Garin5b UTSW 7 4,761,660 (GRCm39) missense probably benign 0.00
R5491:Garin5b UTSW 7 4,760,925 (GRCm39) missense probably benign 0.05
R5559:Garin5b UTSW 7 4,761,449 (GRCm39) missense probably damaging 1.00
R5919:Garin5b UTSW 7 4,773,385 (GRCm39) missense possibly damaging 0.92
R6025:Garin5b UTSW 7 4,761,143 (GRCm39) missense probably benign 0.01
R6038:Garin5b UTSW 7 4,756,594 (GRCm39) splice site probably null
R6038:Garin5b UTSW 7 4,756,594 (GRCm39) splice site probably null
R6164:Garin5b UTSW 7 4,773,677 (GRCm39) missense probably damaging 0.99
R6371:Garin5b UTSW 7 4,762,358 (GRCm39) missense probably benign 0.06
R6470:Garin5b UTSW 7 4,760,850 (GRCm39) missense probably benign 0.16
R6546:Garin5b UTSW 7 4,761,464 (GRCm39) missense probably benign 0.06
R6603:Garin5b UTSW 7 4,761,431 (GRCm39) missense possibly damaging 0.95
R7037:Garin5b UTSW 7 4,761,584 (GRCm39) utr 3 prime probably benign
R7381:Garin5b UTSW 7 4,760,681 (GRCm39) missense
R8743:Garin5b UTSW 7 4,760,814 (GRCm39) missense
R9066:Garin5b UTSW 7 4,773,518 (GRCm39) intron probably benign
R9072:Garin5b UTSW 7 4,762,253 (GRCm39) missense
R9138:Garin5b UTSW 7 4,773,406 (GRCm39) missense
R9352:Garin5b UTSW 7 4,761,605 (GRCm39) missense
R9373:Garin5b UTSW 7 4,760,712 (GRCm39) missense
R9462:Garin5b UTSW 7 4,761,330 (GRCm39) missense
Z1177:Garin5b UTSW 7 4,760,727 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CTTACTGCAGACTTTTGGGGC -3'
(R):5'- CGACTGAAGCCAGCTACTATC -3'

Sequencing Primer
(F):5'- ACCTAAGATAGGCCCAGT -3'
(R):5'- GACTGAAGCCAGCTACTATCTCTCTG -3'
Posted On 2016-03-16