Incidental Mutation 'IGL03026:Ric1'
ID408184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene NameRAB6A GEF complex partner 1
SynonymsC030046E11Rik, C130057E09Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.639) question?
Stock #IGL03026
Quality Score
Status
Chromosome19
Chromosomal Location29522282-29606829 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 29599833 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Glycine at position 1046 (W1046G)
Ref Sequence ENSEMBL: ENSMUSP00000043437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043610]
Predicted Effect probably benign
Transcript: ENSMUST00000043610
AA Change: W1046G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: W1046G

DomainStartEndE-ValueType
Blast:WD40 242 278 5e-7 BLAST
SCOP:d1gxra_ 254 379 2e-4 SMART
Blast:WD40 285 334 3e-6 BLAST
Blast:WD40 482 520 5e-6 BLAST
low complexity region 642 653 N/A INTRINSIC
Pfam:RIC1 732 991 1.9e-86 PFAM
low complexity region 1120 1132 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000160452
AA Change: M158R
SMART Domains Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658
AA Change: M158R

DomainStartEndE-ValueType
Pfam:RIC1 8 163 1.4e-60 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000161330
AA Change: W67G
SMART Domains Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658
AA Change: W67G

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161536
Predicted Effect unknown
Transcript: ENSMUST00000162492
AA Change: W937G
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: W937G

DomainStartEndE-ValueType
Blast:WD40 171 207 4e-7 BLAST
SCOP:d1gxra_ 183 308 2e-4 SMART
Blast:WD40 214 263 2e-6 BLAST
low complexity region 534 545 N/A INTRINSIC
Pfam:RIC1 624 883 1.6e-86 PFAM
low complexity region 1012 1024 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,519,690 V154A possibly damaging Het
Adcy4 T C 14: 55,778,010 Y481C probably damaging Het
Adcy5 T C 16: 35,157,042 V315A probably benign Het
Atf7ip G A 6: 136,605,382 S1130N possibly damaging Het
Ctss A G 3: 95,538,830 D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 K254N probably benign Het
Dnajc10 A G 2: 80,349,303 D727G probably damaging Het
Dsg3 G A 18: 20,536,972 probably null Het
Ehmt1 T C 2: 24,852,734 M478V probably benign Het
Enam A T 5: 88,503,299 N889I probably benign Het
Exo1 G T 1: 175,908,437 *148L probably null Het
Fam133b G T 5: 3,559,646 probably benign Het
Foxj2 G A 6: 122,838,180 A392T probably benign Het
Gbp4 G T 5: 105,120,000 A460E possibly damaging Het
Has3 A T 8: 106,878,610 I483F probably benign Het
Hist1h1b G A 13: 21,779,947 probably benign Het
Irak2 T A 6: 113,676,651 V260E probably damaging Het
Kcnj8 T C 6: 142,566,473 probably null Het
Lama5 A G 2: 180,195,967 V936A probably benign Het
Lmo7 C T 14: 101,929,333 probably benign Het
Morc3 T A 16: 93,862,724 probably benign Het
Muc6 T C 7: 141,640,147 probably benign Het
Nkx2-2 T C 2: 147,185,822 Y66C probably damaging Het
Oaz1 G A 10: 80,828,800 probably benign Het
Olfr1392 A T 11: 49,293,458 I46F probably damaging Het
Olfr768 G A 10: 129,093,188 A262V possibly damaging Het
Olfr808 A T 10: 129,768,041 M182L probably benign Het
Pkd2 A T 5: 104,494,887 probably benign Het
Plcb4 A G 2: 135,950,429 probably benign Het
Ralgapa2 C A 2: 146,460,775 probably benign Het
Rfx7 T C 9: 72,619,685 S1386P probably damaging Het
Rrp12 C A 19: 41,872,997 R957L probably damaging Het
Scn7a T C 2: 66,676,098 I1482M probably damaging Het
Sema3b T C 9: 107,602,063 N236S probably damaging Het
Skint6 T A 4: 112,991,244 probably null Het
Slfn5 T C 11: 82,956,561 Y91H probably benign Het
Sptbn2 T A 19: 4,724,233 probably null Het
Szt2 A G 4: 118,391,849 L546P probably benign Het
Tas1r3 A G 4: 155,861,843 probably benign Het
Trim75 A G 8: 64,983,786 V4A probably benign Het
Usp19 T C 9: 108,493,145 L56P probably damaging Het
Vmn1r181 T G 7: 23,984,575 I155S possibly damaging Het
Vmn2r43 G T 7: 8,255,097 D372E probably benign Het
Vstm2b C A 7: 40,902,521 S99* probably null Het
Wdr11 A G 7: 129,624,336 D735G probably damaging Het
Wee2 T A 6: 40,461,981 M346K probably benign Het
Zap70 A G 1: 36,779,717 K371R possibly damaging Het
Zfp990 A T 4: 145,537,110 H226L possibly damaging Het
Other mutations in Ric1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Ric1 APN 19 29595362 missense probably damaging 1.00
IGL00902:Ric1 APN 19 29567231 missense probably benign 0.05
IGL01405:Ric1 APN 19 29567370 splice site probably benign
IGL01629:Ric1 APN 19 29603981 missense probably benign 0.02
IGL01688:Ric1 APN 19 29577614 missense probably benign 0.00
IGL01966:Ric1 APN 19 29595563 missense probably benign 0.33
IGL02123:Ric1 APN 19 29594800 missense probably benign
IGL02590:Ric1 APN 19 29567481 splice site probably benign
IGL02655:Ric1 APN 19 29595451 missense probably damaging 1.00
IGL02699:Ric1 APN 19 29522557 missense possibly damaging 0.51
IGL02718:Ric1 APN 19 29533240 missense probably damaging 1.00
IGL03142:Ric1 APN 19 29600980 missense possibly damaging 0.89
R0109:Ric1 UTSW 19 29586677 synonymous silent
R0336:Ric1 UTSW 19 29587793 missense probably damaging 0.96
R0362:Ric1 UTSW 19 29601011 critical splice donor site probably null
R0676:Ric1 UTSW 19 29577647 missense probably benign
R0734:Ric1 UTSW 19 29594818 missense possibly damaging 0.66
R1004:Ric1 UTSW 19 29602357 missense probably benign 0.00
R1148:Ric1 UTSW 19 29579849 missense probably benign
R1148:Ric1 UTSW 19 29579849 missense probably benign
R1216:Ric1 UTSW 19 29577735 missense probably benign 0.00
R1493:Ric1 UTSW 19 29579849 missense probably benign
R1848:Ric1 UTSW 19 29600813 splice site probably null
R1872:Ric1 UTSW 19 29602668 missense probably benign 0.32
R1942:Ric1 UTSW 19 29601016 splice site probably benign
R2143:Ric1 UTSW 19 29533252 missense probably damaging 1.00
R2143:Ric1 UTSW 19 29533253 missense probably damaging 0.96
R2679:Ric1 UTSW 19 29604030 missense probably benign
R2878:Ric1 UTSW 19 29602330 missense possibly damaging 0.77
R2970:Ric1 UTSW 19 29577718 missense probably benign 0.15
R3420:Ric1 UTSW 19 29567590 missense probably damaging 0.96
R3421:Ric1 UTSW 19 29567590 missense probably damaging 0.96
R3940:Ric1 UTSW 19 29570762 missense probably damaging 1.00
R4004:Ric1 UTSW 19 29579801 missense probably benign 0.44
R4225:Ric1 UTSW 19 29602731 missense possibly damaging 0.89
R4280:Ric1 UTSW 19 29586550 missense probably damaging 1.00
R4283:Ric1 UTSW 19 29586550 missense probably damaging 1.00
R4516:Ric1 UTSW 19 29570765 missense probably benign 0.17
R4702:Ric1 UTSW 19 29598017 missense possibly damaging 0.85
R4824:Ric1 UTSW 19 29585842 missense probably damaging 1.00
R4835:Ric1 UTSW 19 29595536 missense possibly damaging 0.80
R5860:Ric1 UTSW 19 29599845 missense possibly damaging 0.91
R5883:Ric1 UTSW 19 29595989 missense probably damaging 1.00
R5965:Ric1 UTSW 19 29570771 missense probably damaging 0.99
R6141:Ric1 UTSW 19 29595442 missense probably damaging 1.00
R6236:Ric1 UTSW 19 29595426 missense possibly damaging 0.91
R6271:Ric1 UTSW 19 29567365 splice site probably null
R6345:Ric1 UTSW 19 29604085 missense probably benign 0.09
R6371:Ric1 UTSW 19 29562026 missense probably benign 0.35
R6547:Ric1 UTSW 19 29594826 missense probably damaging 1.00
R6924:Ric1 UTSW 19 29569388 missense probably damaging 0.98
R6969:Ric1 UTSW 19 29585782 missense probably damaging 1.00
R6970:Ric1 UTSW 19 29587772 missense probably damaging 1.00
R6993:Ric1 UTSW 19 29586613 missense probably damaging 1.00
R7296:Ric1 UTSW 19 29584578 critical splice donor site probably null
R7434:Ric1 UTSW 19 29574780 missense probably damaging 1.00
X0064:Ric1 UTSW 19 29587802 missense probably damaging 1.00
Posted On2016-08-02