Incidental Mutation 'R7767:Rabepk'
ID 598271
Institutional Source Beutler Lab
Gene Symbol Rabepk
Ensembl Gene ENSMUSG00000070953
Gene Name Rab9 effector protein with kelch motifs
Synonyms 8430412M01Rik, 9530020D24Rik
MMRRC Submission 045823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7767 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 34667568-34689924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34675605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 175 (D175G)
Ref Sequence ENSEMBL: ENSMUSP00000122360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113086] [ENSMUST00000118108] [ENSMUST00000140663] [ENSMUST00000141099] [ENSMUST00000145903]
AlphaFold Q8VCH5
Predicted Effect probably benign
Transcript: ENSMUST00000047963
SMART Domains Protein: ENSMUSP00000037746
Gene: ENSMUSG00000070953

DomainStartEndE-ValueType
Pfam:Kelch_2 5 51 6.7e-13 PFAM
Pfam:Kelch_4 5 58 2e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113086
AA Change: D116G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108709
Gene: ENSMUSG00000070953
AA Change: D116G

DomainStartEndE-ValueType
Pfam:Kelch_2 30 82 5e-15 PFAM
Pfam:Kelch_4 30 86 6.7e-10 PFAM
Pfam:Kelch_3 47 96 1e-12 PFAM
Pfam:Kelch_4 87 140 4.6e-7 PFAM
Pfam:Kelch_3 98 150 1.6e-9 PFAM
Pfam:Kelch_5 138 174 6.2e-8 PFAM
Pfam:Kelch_1 141 186 8.3e-7 PFAM
Pfam:Kelch_4 141 190 2.3e-10 PFAM
Pfam:Kelch_6 141 190 4.1e-10 PFAM
Pfam:Kelch_3 151 200 3.5e-8 PFAM
Pfam:Kelch_5 188 225 1.8e-7 PFAM
Pfam:Kelch_1 191 233 2.8e-9 PFAM
Pfam:Kelch_4 193 240 9.4e-9 PFAM
Pfam:Kelch_3 201 250 6.7e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118108
AA Change: D167G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113099
Gene: ENSMUSG00000070953
AA Change: D167G

DomainStartEndE-ValueType
Pfam:Kelch_2 30 82 2.8e-16 PFAM
Pfam:Kelch_4 30 82 3.7e-6 PFAM
Pfam:Kelch_3 99 147 8.2e-9 PFAM
Pfam:Kelch_4 138 191 2.7e-6 PFAM
Pfam:Kelch_3 149 201 7.9e-9 PFAM
Pfam:Kelch_5 189 225 2.8e-7 PFAM
Pfam:Kelch_1 192 237 5.2e-6 PFAM
Pfam:Kelch_4 192 241 1.3e-9 PFAM
Pfam:Kelch_6 192 241 2.4e-9 PFAM
Pfam:Kelch_3 202 251 1.7e-7 PFAM
Pfam:Kelch_5 239 276 8.1e-7 PFAM
Pfam:Kelch_1 242 284 1.8e-8 PFAM
Pfam:Kelch_4 244 291 5.5e-8 PFAM
Pfam:Kelch_3 252 301 3.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140663
Predicted Effect probably benign
Transcript: ENSMUST00000141099
SMART Domains Protein: ENSMUSP00000120887
Gene: ENSMUSG00000070953

DomainStartEndE-ValueType
low complexity region 49 54 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145903
AA Change: D175G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122360
Gene: ENSMUSG00000070953
AA Change: D175G

DomainStartEndE-ValueType
Pfam:Kelch_2 38 90 1.5e-17 PFAM
Pfam:Kelch_4 38 90 2.2e-7 PFAM
Pfam:Kelch_1 55 87 4.5e-7 PFAM
Pfam:Kelch_3 107 155 7e-10 PFAM
Pfam:Kelch_4 146 199 4e-7 PFAM
Pfam:Kelch_3 157 209 1.5e-10 PFAM
Pfam:Kelch_5 197 231 1e-8 PFAM
Pfam:Kelch_4 200 249 3.4e-9 PFAM
Pfam:Kelch_5 247 284 5.1e-8 PFAM
Pfam:Kelch_1 250 292 2.9e-9 PFAM
Pfam:Kelch_6 250 301 1.2e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C A 1: 58,274,366 (GRCm39) S384Y probably damaging Het
Arhgef15 T C 11: 68,844,673 (GRCm39) E308G probably damaging Het
Asb15 A G 6: 24,559,281 (GRCm39) D142G probably benign Het
Atg13 A G 2: 91,509,711 (GRCm39) S394P probably damaging Het
Atp10a G C 7: 58,308,597 (GRCm39) W132S probably damaging Het
Bltp1 G T 3: 36,974,436 (GRCm39) probably null Het
Bod1l T A 5: 41,974,099 (GRCm39) N2405I probably benign Het
Capsl C T 15: 9,462,770 (GRCm39) R137C probably damaging Het
Cd109 T A 9: 78,617,441 (GRCm39) M1313K probably damaging Het
Chst13 G A 6: 90,286,566 (GRCm39) A132V possibly damaging Het
Cobl T C 11: 12,362,117 (GRCm39) probably benign Het
Coq9 A T 8: 95,577,214 (GRCm39) E193V probably benign Het
Cpd T A 11: 76,704,385 (GRCm39) I410F probably benign Het
Cyth3 T G 5: 143,693,229 (GRCm39) V351G probably damaging Het
Dcdc2c T C 12: 28,520,256 (GRCm39) K607E Het
Dcp1a T C 14: 30,201,775 (GRCm39) probably null Het
Dennd3 A G 15: 73,394,079 (GRCm39) I35V probably benign Het
Dlgap4 C T 2: 156,587,973 (GRCm39) R606W probably damaging Het
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Erbin A G 13: 103,995,907 (GRCm39) L265P probably damaging Het
Ern1 T C 11: 106,291,134 (GRCm39) D847G probably damaging Het
Esyt3 T G 9: 99,207,024 (GRCm39) S342R probably benign Het
Exoc2 A T 13: 31,060,752 (GRCm39) I584K probably benign Het
Fam240a T C 9: 110,744,090 (GRCm39) R50G probably damaging Het
Glis3 A T 19: 28,241,360 (GRCm39) M858K probably benign Het
Gls2 C T 10: 128,030,998 (GRCm39) R86C unknown Het
Gm10972 C A 3: 94,550,901 (GRCm39) Y25* probably null Het
H2-T10 A T 17: 36,428,622 (GRCm39) M350K probably benign Het
Has1 A T 17: 18,070,792 (GRCm39) V43D probably damaging Het
Herc2 T A 7: 55,878,275 (GRCm39) S4609R probably benign Het
Hmgcs2 A C 3: 98,198,582 (GRCm39) T162P probably damaging Het
Hspg2 G T 4: 137,239,177 (GRCm39) C368F probably damaging Het
Ighv11-1 A G 12: 113,945,722 (GRCm39) S44P probably damaging Het
Inppl1 A G 7: 101,473,545 (GRCm39) V1035A probably benign Het
Kmt2a C T 9: 44,730,295 (GRCm39) V3341I unknown Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrriq1 G C 10: 103,051,815 (GRCm39) S312R probably damaging Het
Map1a G A 2: 121,132,517 (GRCm39) S1111N probably damaging Het
Myo15a T C 11: 60,392,922 (GRCm39) V1029A Het
Nol11 T C 11: 107,069,908 (GRCm39) H314R possibly damaging Het
Nphs1 A T 7: 30,162,733 (GRCm39) D404V probably damaging Het
Odr4 A G 1: 150,247,788 (GRCm39) V387A probably benign Het
Or51r1 A T 7: 102,220,971 (GRCm39) probably benign Het
Pabpc2 T C 18: 39,907,607 (GRCm39) Y291H possibly damaging Het
Pcdh15 G A 10: 74,322,088 (GRCm39) A1020T probably benign Het
Pla2g4f A C 2: 120,135,490 (GRCm39) S395A possibly damaging Het
Ppp1r18 A G 17: 36,178,176 (GRCm39) Q17R probably damaging Het
Prokr2 A T 2: 132,215,996 (GRCm39) V155D probably damaging Het
Pwwp2a T G 11: 43,596,696 (GRCm39) C620W probably damaging Het
Rad54l T C 4: 115,956,866 (GRCm39) Y485C probably damaging Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rgma C A 7: 73,067,752 (GRCm39) L446I unknown Het
Rnf212b T C 14: 55,079,825 (GRCm39) S182P probably damaging Het
Rnf6 C A 5: 146,147,986 (GRCm39) R344I probably damaging Het
Rnf6 T A 5: 146,147,987 (GRCm39) R344* probably null Het
Sgo1 A G 17: 53,986,639 (GRCm39) I184T possibly damaging Het
Sgpl1 A T 10: 60,953,502 (GRCm39) I78N possibly damaging Het
Snx13 T A 12: 35,157,483 (GRCm39) Y510N probably damaging Het
Sptbn2 G A 19: 4,784,171 (GRCm39) E638K possibly damaging Het
Sspo A G 6: 48,428,316 (GRCm39) T349A probably damaging Het
Sv2c C T 13: 96,126,223 (GRCm39) S343N probably damaging Het
Syne1 C A 10: 5,283,560 (GRCm39) V1502F possibly damaging Het
Syne1 T A 10: 5,283,632 (GRCm39) I1478F possibly damaging Het
Tmem121 C T 12: 113,151,992 (GRCm39) A70V probably damaging Het
Tmem215 A G 4: 40,474,042 (GRCm39) I40V possibly damaging Het
Trim25 A G 11: 88,899,943 (GRCm39) probably null Het
Trio A G 15: 27,889,504 (GRCm39) V534A unknown Het
Tyr T A 7: 87,142,218 (GRCm39) E114V probably benign Het
Ush2a A T 1: 188,285,457 (GRCm39) T1998S probably benign Het
Usp40 G T 1: 87,909,900 (GRCm39) A518E probably benign Het
Usp48 T A 4: 137,331,956 (GRCm39) probably null Het
Vash1 T A 12: 86,733,767 (GRCm39) F152L probably damaging Het
Vsig10l C A 7: 43,113,141 (GRCm39) P31Q probably damaging Het
Xab2 C T 8: 3,669,018 (GRCm39) E43K probably benign Het
Zfp423 G A 8: 88,507,512 (GRCm39) S944F probably damaging Het
Zp2 A T 7: 119,736,392 (GRCm39) D350E probably benign Het
Zscan4e T G 7: 11,041,461 (GRCm39) Q165P probably damaging Het
Other mutations in Rabepk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0066:Rabepk UTSW 2 34,685,318 (GRCm39) missense possibly damaging 0.89
R0479:Rabepk UTSW 2 34,675,592 (GRCm39) missense probably damaging 1.00
R2152:Rabepk UTSW 2 34,674,562 (GRCm39) missense possibly damaging 0.94
R2233:Rabepk UTSW 2 34,685,246 (GRCm39) missense possibly damaging 0.96
R2234:Rabepk UTSW 2 34,685,246 (GRCm39) missense possibly damaging 0.96
R4634:Rabepk UTSW 2 34,670,752 (GRCm39) missense probably damaging 1.00
R4962:Rabepk UTSW 2 34,670,669 (GRCm39) missense probably damaging 1.00
R7088:Rabepk UTSW 2 34,675,711 (GRCm39) missense probably benign 0.01
R7685:Rabepk UTSW 2 34,669,308 (GRCm39) missense probably damaging 1.00
R7686:Rabepk UTSW 2 34,669,308 (GRCm39) missense probably damaging 1.00
R7990:Rabepk UTSW 2 34,670,720 (GRCm39) missense probably benign 0.01
R8683:Rabepk UTSW 2 34,685,188 (GRCm39) missense possibly damaging 0.87
R8995:Rabepk UTSW 2 34,689,842 (GRCm39) start gained probably benign
R9573:Rabepk UTSW 2 34,675,627 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TTCATGTCTCGTAGGCTAGGC -3'
(R):5'- ACAGAGCCTTAAGCCTAGGTC -3'

Sequencing Primer
(F):5'- CGACTGCTGGGATTATAGACACTC -3'
(R):5'- GCCTTAAGCCTAGGTCTTTTAAATGC -3'
Posted On 2019-11-26