Incidental Mutation 'R5384:Sgip1'
ID 424909
Institutional Source Beutler Lab
Gene Symbol Sgip1
Ensembl Gene ENSMUSG00000028524
Gene Name SH3-domain GRB2-like (endophilin) interacting protein 1
Synonyms 3110007P09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5384 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 102616351-102834623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102791763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 362 (V362I)
Ref Sequence ENSEMBL: ENSMUSP00000063712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066824] [ENSMUST00000072481] [ENSMUST00000080728] [ENSMUST00000106882]
AlphaFold Q8VD37
Predicted Effect possibly damaging
Transcript: ENSMUST00000066824
AA Change: V362I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: V362I

DomainStartEndE-ValueType
low complexity region 51 62 N/A INTRINSIC
low complexity region 102 112 N/A INTRINSIC
low complexity region 148 160 N/A INTRINSIC
low complexity region 241 262 N/A INTRINSIC
low complexity region 281 308 N/A INTRINSIC
low complexity region 313 330 N/A INTRINSIC
low complexity region 332 353 N/A INTRINSIC
Pfam:muHD 391 658 5.9e-79 PFAM
Pfam:Adap_comp_sub 469 650 1.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072481
SMART Domains Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524

DomainStartEndE-ValueType
low complexity region 51 62 N/A INTRINSIC
low complexity region 102 112 N/A INTRINSIC
low complexity region 148 160 N/A INTRINSIC
low complexity region 241 262 N/A INTRINSIC
low complexity region 281 308 N/A INTRINSIC
low complexity region 313 330 N/A INTRINSIC
low complexity region 332 353 N/A INTRINSIC
Pfam:muHD 371 638 5.5e-79 PFAM
Pfam:Adap_comp_sub 449 630 1.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080728
SMART Domains Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
low complexity region 103 113 N/A INTRINSIC
low complexity region 149 161 N/A INTRINSIC
low complexity region 242 263 N/A INTRINSIC
low complexity region 335 366 N/A INTRINSIC
low complexity region 423 443 N/A INTRINSIC
low complexity region 448 475 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
low complexity region 499 520 N/A INTRINSIC
Pfam:muHD 538 805 9e-79 PFAM
Pfam:Adap_comp_sub 617 797 2.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106882
AA Change: V529I

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: V529I

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
low complexity region 103 113 N/A INTRINSIC
low complexity region 149 161 N/A INTRINSIC
low complexity region 242 263 N/A INTRINSIC
low complexity region 335 366 N/A INTRINSIC
low complexity region 423 443 N/A INTRINSIC
low complexity region 448 475 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
low complexity region 499 520 N/A INTRINSIC
Pfam:muHD 558 825 1.7e-74 PFAM
Pfam:Adap_comp_sub 657 809 1.2e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000149547
AA Change: V277I
SMART Domains Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524
AA Change: V277I

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 135 156 N/A INTRINSIC
low complexity region 175 202 N/A INTRINSIC
low complexity region 207 224 N/A INTRINSIC
low complexity region 226 247 N/A INTRINSIC
Pfam:muHD 307 574 3.9e-75 PFAM
Pfam:Adap_comp_sub 404 558 3.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 126 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,496 (GRCm39) V246A probably benign Het
Abcc10 T C 17: 46,615,361 (GRCm39) S1343G possibly damaging Het
Abcd3 C A 3: 121,555,059 (GRCm39) probably null Het
Actl6a T A 3: 32,774,642 (GRCm39) M335K probably damaging Het
Adamts9 A C 6: 92,774,999 (GRCm39) C1090W probably damaging Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Ankhd1 A G 18: 36,724,548 (GRCm39) E402G probably damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Apeh A T 9: 107,963,662 (GRCm39) L551H probably damaging Het
Avpr1a T A 10: 122,285,274 (GRCm39) F189I probably damaging Het
BC034090 T A 1: 155,117,773 (GRCm39) H115L possibly damaging Het
C4b A T 17: 34,956,635 (GRCm39) D654E possibly damaging Het
Carns1 T A 19: 4,221,900 (GRCm39) probably null Het
Ccdc146 T A 5: 21,513,711 (GRCm39) E469V probably benign Het
Cdc27 A G 11: 104,397,966 (GRCm39) I804T probably benign Het
Cdh23 G A 10: 60,173,541 (GRCm39) T1651I probably damaging Het
Cenpo G A 12: 4,266,646 (GRCm39) P154L probably damaging Het
Cenpu G A 8: 47,015,534 (GRCm39) G150R probably benign Het
Chrna10 C A 7: 101,763,560 (GRCm39) L78F probably damaging Het
Chrne A T 11: 70,505,913 (GRCm39) N457K possibly damaging Het
Cidea A T 18: 67,493,236 (GRCm39) D85V probably damaging Het
Cldn18 T C 9: 99,591,911 (GRCm39) S31G possibly damaging Het
Clpb T A 7: 101,428,548 (GRCm39) I436N probably damaging Het
Col11a2 T C 17: 34,278,148 (GRCm39) probably null Het
Cul7 T C 17: 46,965,403 (GRCm39) V527A probably benign Het
Dchs1 A C 7: 105,407,236 (GRCm39) V2119G probably damaging Het
Dchs1 T A 7: 105,421,262 (GRCm39) D386V probably damaging Het
Dcstamp A C 15: 39,622,715 (GRCm39) Q345H probably damaging Het
Dlgap3 A G 4: 127,130,123 (GRCm39) I955V probably damaging Het
Dvl1 A G 4: 155,938,143 (GRCm39) D97G probably damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm39) D3573G probably damaging Het
Efr3b G T 12: 4,033,419 (GRCm39) F129L probably benign Het
Etaa1 G A 11: 17,897,539 (GRCm39) L193F probably damaging Het
Fam13c G A 10: 70,388,899 (GRCm39) S474N probably benign Het
Fam171a2 C A 11: 102,328,693 (GRCm39) V689L possibly damaging Het
Fastkd3 T C 13: 68,732,704 (GRCm39) F342L probably benign Het
Fat4 T C 3: 39,050,095 (GRCm39) S3986P possibly damaging Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Fgr G A 4: 132,713,664 (GRCm39) probably null Het
Gbx2 T C 1: 89,856,635 (GRCm39) T252A probably damaging Het
Gm20671 A G 5: 32,977,286 (GRCm39) S1823P probably damaging Het
Gpatch8 A T 11: 102,399,053 (GRCm39) probably null Het
Gsdma A T 11: 98,557,275 (GRCm39) probably null Het
Gucy2g G A 19: 55,203,548 (GRCm39) A750V probably damaging Het
Hdac9 A G 12: 34,479,557 (GRCm39) Y223H probably damaging Het
Igsf5 C A 16: 96,192,226 (GRCm39) T275N probably benign Het
Il23r G A 6: 67,463,275 (GRCm39) H73Y probably benign Het
Ipo4 G T 14: 55,863,653 (GRCm39) R1026S probably benign Het
Jade1 T A 3: 41,546,137 (GRCm39) I54N probably damaging Het
Khdrbs1 G T 4: 129,635,729 (GRCm39) D75E possibly damaging Het
Lrwd1 A T 5: 136,152,728 (GRCm39) D511E possibly damaging Het
Ly75 A T 2: 60,164,831 (GRCm39) C782* probably null Het
Mmp3 C T 9: 7,451,759 (GRCm39) R366* probably null Het
Mrgpra6 A G 7: 46,838,629 (GRCm39) C190R probably damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Myh10 T A 11: 68,692,434 (GRCm39) L1369Q probably damaging Het
Myof C T 19: 37,941,435 (GRCm39) A792T probably damaging Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Ncoa7 C A 10: 30,598,813 (GRCm39) A37S probably benign Het
Nfkb1 A G 3: 135,318,303 (GRCm39) V310A possibly damaging Het
Nmur2 T A 11: 55,931,040 (GRCm39) I224F probably damaging Het
Nr1d2 A T 14: 18,211,922 (GRCm38) S394T probably benign Het
Nudt12 A G 17: 59,310,434 (GRCm39) W390R probably damaging Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or2m13 A G 16: 19,226,547 (GRCm39) L73P probably damaging Het
Or4a79 T A 2: 89,551,649 (GRCm39) I269F possibly damaging Het
Or4e1 T A 14: 52,700,714 (GRCm39) T251S probably benign Het
Or52a20 T C 7: 103,366,562 (GRCm39) F254L probably benign Het
Pate2 A G 9: 35,581,837 (GRCm39) M44V probably damaging Het
Pikfyve T C 1: 65,283,568 (GRCm39) L735S probably damaging Het
Plce1 C A 19: 38,748,535 (GRCm39) N1755K probably damaging Het
Pld1 C A 3: 28,079,469 (GRCm39) R90S probably damaging Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppm1d A G 11: 85,202,609 (GRCm39) E104G probably damaging Het
Ppm1e A T 11: 87,249,377 (GRCm39) L118Q possibly damaging Het
Ppp1r42 A G 1: 10,069,660 (GRCm39) L134P probably damaging Het
Prpf8 A G 11: 75,386,625 (GRCm39) D1038G probably damaging Het
Prss36 C A 7: 127,535,871 (GRCm39) R288L probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Psma3 G T 12: 71,021,539 (GRCm39) G7W probably damaging Het
Psmc3ip A T 11: 100,983,430 (GRCm39) probably null Het
Qser1 T C 2: 104,616,987 (GRCm39) E1275G probably damaging Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Rcc2 A T 4: 140,447,877 (GRCm39) K468* probably null Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sec1 C A 7: 45,328,264 (GRCm39) R261L probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Homo
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc12a9 A T 5: 137,329,276 (GRCm39) L126Q probably damaging Het
Slx4 A G 16: 3,808,669 (GRCm39) S424P probably damaging Het
Smg5 T C 3: 88,258,600 (GRCm39) S524P probably damaging Het
Sncaip A G 18: 53,018,113 (GRCm39) D418G probably damaging Het
Spata31d1b C A 13: 59,866,032 (GRCm39) T1060K possibly damaging Het
Spink6 A G 18: 44,215,347 (GRCm39) T66A probably damaging Het
Sppl2c T A 11: 104,078,127 (GRCm39) I309K possibly damaging Het
Stk39 T A 2: 68,240,383 (GRCm39) D116V probably damaging Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Svep1 T C 4: 58,104,545 (GRCm39) K1226R possibly damaging Het
Syne1 C T 10: 4,991,494 (GRCm39) V557I probably benign Het
Tas2r117 G T 6: 132,780,117 (GRCm39) S85I probably benign Het
Tcf20 T A 15: 82,740,400 (GRCm39) Q350H probably damaging Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tfb2m A C 1: 179,373,437 (GRCm39) probably null Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tpd52 A T 3: 8,996,255 (GRCm39) probably null Het
Trappc8 A T 18: 20,966,119 (GRCm39) probably null Het
Trbv30 A G 6: 41,258,854 (GRCm39) T88A probably benign Het
Trim40 T A 17: 37,199,757 (GRCm39) N107I probably damaging Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Ttn A G 2: 76,708,692 (GRCm39) probably benign Het
Vav3 A G 3: 109,434,791 (GRCm39) M441V possibly damaging Het
Vmn1r42 T A 6: 89,822,366 (GRCm39) I68F probably damaging Het
Vmn2r118 C T 17: 55,918,565 (GRCm39) G109D probably benign Het
Vmn2r5 T A 3: 64,416,931 (GRCm39) M76L probably benign Het
Vwa7 G T 17: 35,243,902 (GRCm39) probably null Het
Xndc1 T C 7: 101,731,395 (GRCm39) V378A probably benign Het
Zc3h12d A T 10: 7,729,014 (GRCm39) D126V probably damaging Het
Zc3h13 A G 14: 75,581,059 (GRCm39) N1682S probably benign Het
Zc3h15 T C 2: 83,490,574 (GRCm39) I236T possibly damaging Het
Zfp13 A T 17: 23,800,156 (GRCm39) I34N probably damaging Het
Zfp169 A T 13: 48,643,751 (GRCm39) C459S possibly damaging Het
Zfyve28 A G 5: 34,374,311 (GRCm39) C568R probably damaging Het
Other mutations in Sgip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Sgip1 APN 4 102,786,118 (GRCm39) splice site probably benign
IGL01348:Sgip1 APN 4 102,772,353 (GRCm39) splice site probably null
IGL01446:Sgip1 APN 4 102,786,110 (GRCm39) critical splice donor site probably null
IGL01937:Sgip1 APN 4 102,823,439 (GRCm39) missense probably damaging 1.00
IGL01945:Sgip1 APN 4 102,823,439 (GRCm39) missense probably damaging 1.00
IGL02249:Sgip1 APN 4 102,768,667 (GRCm39) missense probably benign 0.40
IGL03232:Sgip1 APN 4 102,772,251 (GRCm39) splice site probably benign
3-1:Sgip1 UTSW 4 102,824,860 (GRCm39) missense probably damaging 1.00
PIT4378001:Sgip1 UTSW 4 102,778,280 (GRCm39) missense unknown
R0309:Sgip1 UTSW 4 102,772,354 (GRCm39) splice site probably benign
R0689:Sgip1 UTSW 4 102,823,449 (GRCm39) missense probably damaging 1.00
R1563:Sgip1 UTSW 4 102,823,457 (GRCm39) missense probably benign 0.38
R1715:Sgip1 UTSW 4 102,772,256 (GRCm39) missense probably benign 0.09
R1899:Sgip1 UTSW 4 102,825,534 (GRCm39) critical splice donor site probably null
R2286:Sgip1 UTSW 4 102,724,844 (GRCm39) missense possibly damaging 0.95
R2372:Sgip1 UTSW 4 102,766,988 (GRCm39) critical splice donor site probably null
R3836:Sgip1 UTSW 4 102,724,897 (GRCm39) splice site probably null
R4670:Sgip1 UTSW 4 102,726,951 (GRCm39) missense probably damaging 1.00
R4697:Sgip1 UTSW 4 102,791,784 (GRCm39) missense probably damaging 1.00
R4725:Sgip1 UTSW 4 102,823,419 (GRCm39) missense probably damaging 1.00
R4892:Sgip1 UTSW 4 102,823,431 (GRCm39) missense probably damaging 1.00
R5112:Sgip1 UTSW 4 102,726,966 (GRCm39) missense probably damaging 1.00
R5236:Sgip1 UTSW 4 102,784,784 (GRCm39) critical splice donor site probably null
R5285:Sgip1 UTSW 4 102,778,674 (GRCm39) unclassified probably benign
R5323:Sgip1 UTSW 4 102,823,477 (GRCm39) missense probably damaging 1.00
R5386:Sgip1 UTSW 4 102,772,256 (GRCm39) missense probably benign 0.09
R5682:Sgip1 UTSW 4 102,824,847 (GRCm39) missense possibly damaging 0.88
R6226:Sgip1 UTSW 4 102,823,392 (GRCm39) missense probably damaging 1.00
R6371:Sgip1 UTSW 4 102,823,482 (GRCm39) missense probably damaging 1.00
R6594:Sgip1 UTSW 4 102,819,676 (GRCm39) missense probably damaging 0.98
R6656:Sgip1 UTSW 4 102,762,765 (GRCm39) intron probably benign
R6800:Sgip1 UTSW 4 102,778,225 (GRCm39) unclassified probably benign
R6855:Sgip1 UTSW 4 102,819,573 (GRCm39) missense probably damaging 0.99
R6917:Sgip1 UTSW 4 102,825,388 (GRCm39) missense probably damaging 1.00
R7340:Sgip1 UTSW 4 102,778,661 (GRCm39) missense unknown
R7414:Sgip1 UTSW 4 102,824,821 (GRCm39) nonsense probably null
R7612:Sgip1 UTSW 4 102,727,005 (GRCm39) missense probably benign 0.28
R7936:Sgip1 UTSW 4 102,786,097 (GRCm39) missense possibly damaging 0.66
R7944:Sgip1 UTSW 4 102,772,298 (GRCm39) missense probably benign
R7976:Sgip1 UTSW 4 102,757,736 (GRCm39) critical splice donor site probably null
R8508:Sgip1 UTSW 4 102,772,268 (GRCm39) missense probably benign 0.14
R8997:Sgip1 UTSW 4 102,790,781 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATGCGTGTCCATCCCTTCAG -3'
(R):5'- TGATGCTTTCTAAGTAGCCATAGC -3'

Sequencing Primer
(F):5'- AGCTCTAGACCGCCAGC -3'
(R):5'- GTAGCCATAGCATTTTTCAATGGAG -3'
Posted On 2016-08-04