Incidental Mutation 'R8314:Rabep1'
ID 641581
Institutional Source Beutler Lab
Gene Symbol Rabep1
Ensembl Gene ENSMUSG00000020817
Gene Name rabaptin, RAB GTPase binding effector protein 1
Synonyms rabaptin-5, RAB5 effector protein, neurocrescin
MMRRC Submission 067719-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.559) question?
Stock # R8314 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70735604-70833931 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70784486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 207 (D207G)
Ref Sequence ENSEMBL: ENSMUSP00000104173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076270] [ENSMUST00000081362] [ENSMUST00000100928] [ENSMUST00000108533] [ENSMUST00000177731] [ENSMUST00000178245] [ENSMUST00000179114]
AlphaFold O35551
Predicted Effect possibly damaging
Transcript: ENSMUST00000076270
AA Change: D207G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: D207G

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 8.8e-47 PFAM
low complexity region 314 327 N/A INTRINSIC
Pfam:Rabaptin 461 596 7.6e-39 PFAM
Pfam:Rab5-bind 612 807 5.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081362
SMART Domains Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 198 2.4e-45 PFAM
low complexity region 274 287 N/A INTRINSIC
Pfam:Rabaptin 421 556 7.1e-39 PFAM
Pfam:Rab5-bind 572 767 5.2e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100928
AA Change: D207G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: D207G

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 8.3e-47 PFAM
low complexity region 314 327 N/A INTRINSIC
Pfam:Rabaptin 461 561 2.9e-27 PFAM
Pfam:Rab5-bind 577 772 5.3e-51 PFAM
low complexity region 803 817 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108533
AA Change: D207G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: D207G

DomainStartEndE-ValueType
Pfam:Rabaptin 9 495 2.8e-301 PFAM
Pfam:Rab5-bind 533 841 2e-142 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177731
AA Change: D123G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: D123G

DomainStartEndE-ValueType
Pfam:Rabaptin 5 111 6.2e-47 PFAM
low complexity region 230 243 N/A INTRINSIC
Pfam:Rabaptin 377 512 5.3e-39 PFAM
Pfam:Rab5-bind 528 723 1.4e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178245
AA Change: D164G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: D164G

DomainStartEndE-ValueType
Pfam:Rabaptin 46 152 8.2e-47 PFAM
low complexity region 271 284 N/A INTRINSIC
Pfam:Rabaptin 418 553 7e-39 PFAM
Pfam:Rab5-bind 569 764 5.2e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179114
AA Change: D207G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136369
Gene: ENSMUSG00000020817
AA Change: D207G

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 7.1e-48 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T A 9: 122,777,993 (GRCm39) T84S probably benign Het
4930533K18Rik A G 10: 70,711,106 (GRCm39) T76A noncoding transcript Het
Adgrl1 C T 8: 84,665,018 (GRCm39) T1235I probably damaging Het
Ak4 C T 4: 101,320,782 (GRCm39) T197M possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Alox12e T C 11: 70,206,998 (GRCm39) M603V possibly damaging Het
Ap3d1 A T 10: 80,559,373 (GRCm39) I267N possibly damaging Het
Arhgef2 T A 3: 88,528,600 (GRCm39) I12N probably benign Het
Asnsd1 A T 1: 53,385,814 (GRCm39) M520K probably damaging Het
B3galt5 T C 16: 96,116,649 (GRCm39) L94P probably damaging Het
Birc2 T C 9: 7,872,942 (GRCm39) probably benign Het
Cd177 T C 7: 24,450,013 (GRCm39) S541G probably benign Het
Cdh8 T C 8: 99,898,011 (GRCm39) D434G probably damaging Het
Cdkn3 A T 14: 47,007,330 (GRCm39) silent Het
Ciita A T 16: 10,328,852 (GRCm39) R379W probably damaging Het
Cntrl T A 2: 35,065,155 (GRCm39) M2153K probably benign Het
Csmd1 A T 8: 16,208,258 (GRCm39) D1232E probably benign Het
Cyp4a30b A C 4: 115,315,535 (GRCm39) H252P probably benign Het
Dad1 G A 14: 54,491,269 (GRCm39) R11W probably damaging Het
Ddit3 A G 10: 127,131,590 (GRCm39) probably null Het
Dusp22 G A 13: 30,892,914 (GRCm39) probably benign Het
Dzank1 A G 2: 144,344,878 (GRCm39) L293P probably damaging Het
Edf1 A G 2: 25,447,977 (GRCm39) D5G probably damaging Het
Entrep3 T C 3: 89,095,453 (GRCm39) probably null Het
Ep400 T A 5: 110,903,619 (GRCm39) M327L unknown Het
Fam135a A T 1: 24,061,002 (GRCm39) H1341Q possibly damaging Het
Fbxl3 C T 14: 103,326,876 (GRCm39) V169I probably benign Het
Gm4787 A G 12: 81,425,909 (GRCm39) L83P probably damaging Het
Habp4 A G 13: 64,332,565 (GRCm39) E392G probably damaging Het
Hspg2 C A 4: 137,266,986 (GRCm39) P1997Q probably benign Het
Ints9 T C 14: 65,266,479 (GRCm39) S444P probably damaging Het
Kif18b G A 11: 102,803,900 (GRCm39) S420L probably benign Het
Klhl17 T A 4: 156,318,470 (GRCm39) M51L probably benign Het
Kmt2b C T 7: 30,278,347 (GRCm39) E1555K probably damaging Het
Malrd1 T A 2: 15,757,643 (GRCm39) D972E unknown Het
Mapk8ip3 A T 17: 25,120,748 (GRCm39) S805R probably benign Het
Mmp13 G A 9: 7,272,931 (GRCm39) C97Y probably damaging Het
Moxd1 T A 10: 24,128,438 (GRCm39) N163K possibly damaging Het
Nbea T C 3: 55,916,672 (GRCm39) I863V probably damaging Het
Nectin4 A G 1: 171,212,295 (GRCm39) T298A probably benign Het
Net1 T C 13: 3,962,672 (GRCm39) probably benign Het
Ntn1 T C 11: 68,276,450 (GRCm39) D166G probably damaging Het
Opa3 C A 7: 18,978,940 (GRCm39) A135E possibly damaging Het
Or1e31 T G 11: 73,690,568 (GRCm39) N5T noncoding transcript Het
Or4c3d T C 2: 89,882,441 (GRCm39) T76A probably benign Het
Or51v14 T C 7: 103,261,254 (GRCm39) Q102R probably damaging Het
Or5w14 A G 2: 87,541,546 (GRCm39) F235L probably benign Het
Or8g30 A G 9: 39,230,601 (GRCm39) F103S probably damaging Het
Osbpl5 T C 7: 143,248,833 (GRCm39) I608V probably benign Het
Phc1 A C 6: 122,297,937 (GRCm39) S782R unknown Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pip5k1b T A 19: 24,332,563 (GRCm39) T374S probably benign Het
Prkaa1 A G 15: 5,208,354 (GRCm39) S541G probably damaging Het
Ptpn20 A G 14: 33,344,504 (GRCm39) N143D possibly damaging Het
Rbbp8 G A 18: 11,853,682 (GRCm39) M296I probably benign Het
Recql4 C A 15: 76,594,380 (GRCm39) R46L probably damaging Het
Scgb2b18 T C 7: 32,872,582 (GRCm39) I74M probably benign Het
Shc4 A G 2: 125,497,536 (GRCm39) I391T possibly damaging Het
Slc38a4 A G 15: 96,908,190 (GRCm39) F184L probably benign Het
Slc7a6 A G 8: 106,895,590 (GRCm39) probably benign Het
Smim13 G T 13: 41,426,110 (GRCm39) G49* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Tnpo1 T C 13: 99,021,133 (GRCm39) N82S possibly damaging Het
Tpp2 G A 1: 43,973,387 (GRCm39) V47I probably benign Het
Umodl1 G T 17: 31,203,806 (GRCm39) A540S probably damaging Het
Vmn2r83 G A 10: 79,317,313 (GRCm39) V519I possibly damaging Het
Zfp641 T C 15: 98,188,464 (GRCm39) I139V probably damaging Het
Zfyve21 A T 12: 111,789,715 (GRCm39) I60F probably benign Het
Other mutations in Rabep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Rabep1 APN 11 70,816,607 (GRCm39) missense probably benign 0.00
IGL02022:Rabep1 APN 11 70,825,385 (GRCm39) missense probably damaging 1.00
IGL02215:Rabep1 APN 11 70,814,023 (GRCm39) nonsense probably null
IGL02428:Rabep1 APN 11 70,808,306 (GRCm39) missense probably benign 0.00
IGL02566:Rabep1 APN 11 70,808,540 (GRCm39) missense probably damaging 1.00
IGL02868:Rabep1 APN 11 70,765,572 (GRCm39) missense probably benign 0.00
F5770:Rabep1 UTSW 11 70,828,342 (GRCm39) splice site probably benign
P0042:Rabep1 UTSW 11 70,775,801 (GRCm39) splice site probably benign
PIT4495001:Rabep1 UTSW 11 70,808,405 (GRCm39) missense probably damaging 1.00
R0328:Rabep1 UTSW 11 70,810,033 (GRCm39) missense probably damaging 1.00
R0458:Rabep1 UTSW 11 70,777,824 (GRCm39) splice site probably null
R0477:Rabep1 UTSW 11 70,811,733 (GRCm39) missense probably damaging 1.00
R0727:Rabep1 UTSW 11 70,791,318 (GRCm39) nonsense probably null
R1732:Rabep1 UTSW 11 70,795,467 (GRCm39) missense probably damaging 1.00
R1837:Rabep1 UTSW 11 70,795,484 (GRCm39) missense probably damaging 1.00
R2203:Rabep1 UTSW 11 70,825,400 (GRCm39) missense probably damaging 1.00
R4003:Rabep1 UTSW 11 70,808,193 (GRCm39) missense probably benign 0.12
R4229:Rabep1 UTSW 11 70,799,260 (GRCm39) missense probably benign
R4573:Rabep1 UTSW 11 70,808,577 (GRCm39) missense probably damaging 1.00
R4748:Rabep1 UTSW 11 70,799,294 (GRCm39) missense probably benign 0.18
R5130:Rabep1 UTSW 11 70,795,557 (GRCm39) missense probably damaging 1.00
R5182:Rabep1 UTSW 11 70,795,454 (GRCm39) nonsense probably null
R5379:Rabep1 UTSW 11 70,799,247 (GRCm39) missense probably damaging 1.00
R5525:Rabep1 UTSW 11 70,813,972 (GRCm39) missense probably damaging 1.00
R5617:Rabep1 UTSW 11 70,808,355 (GRCm39) missense probably damaging 1.00
R6283:Rabep1 UTSW 11 70,808,505 (GRCm39) missense probably damaging 1.00
R6302:Rabep1 UTSW 11 70,825,947 (GRCm39) missense probably damaging 1.00
R6730:Rabep1 UTSW 11 70,831,212 (GRCm39) missense possibly damaging 0.88
R6988:Rabep1 UTSW 11 70,825,363 (GRCm39) missense probably damaging 0.96
R7235:Rabep1 UTSW 11 70,831,290 (GRCm39) missense probably benign 0.43
R7241:Rabep1 UTSW 11 70,830,815 (GRCm39) missense probably damaging 1.00
R7453:Rabep1 UTSW 11 70,808,486 (GRCm39) missense probably damaging 1.00
R7955:Rabep1 UTSW 11 70,808,267 (GRCm39) missense probably damaging 0.96
R8175:Rabep1 UTSW 11 70,775,755 (GRCm39) missense probably damaging 1.00
R8461:Rabep1 UTSW 11 70,775,681 (GRCm39) missense possibly damaging 0.56
R8481:Rabep1 UTSW 11 70,777,953 (GRCm39) missense probably damaging 1.00
R8530:Rabep1 UTSW 11 70,810,068 (GRCm39) missense probably damaging 1.00
R8531:Rabep1 UTSW 11 70,799,332 (GRCm39) missense probably benign 0.01
R9010:Rabep1 UTSW 11 70,810,034 (GRCm39) missense probably damaging 1.00
R9696:Rabep1 UTSW 11 70,814,029 (GRCm39) missense probably benign
Z1186:Rabep1 UTSW 11 70,830,910 (GRCm39) frame shift probably null
Z1187:Rabep1 UTSW 11 70,830,910 (GRCm39) frame shift probably null
Z1188:Rabep1 UTSW 11 70,830,910 (GRCm39) frame shift probably null
Z1189:Rabep1 UTSW 11 70,830,910 (GRCm39) frame shift probably null
Z1190:Rabep1 UTSW 11 70,830,910 (GRCm39) frame shift probably null
Z1191:Rabep1 UTSW 11 70,830,910 (GRCm39) frame shift probably null
Z1192:Rabep1 UTSW 11 70,830,910 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TTTTAGCAAATAGGTAGACCAGGG -3'
(R):5'- CATGAATAAGCATCATCACTGAGAG -3'

Sequencing Primer
(F):5'- ACCAGGGTTTCTTAGAAAAGCC -3'
(R):5'- CTGAGAGTTTAAATAACCAAAGGCC -3'
Posted On 2020-07-28