Incidental Mutation 'R2286:Sgip1'
ID 243297
Institutional Source Beutler Lab
Gene Symbol Sgip1
Ensembl Gene ENSMUSG00000028524
Gene Name SH3-domain GRB2-like (endophilin) interacting protein 1
Synonyms 3110007P09Rik
MMRRC Submission 040285-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2286 (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 T at 102724844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 59 (S59I)
Ref Sequence ENSEMBL: ENSMUSP00000063712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066824] [ENSMUST00000072481] [ENSMUST00000080728] [ENSMUST00000106882] [ENSMUST00000183855] [ENSMUST00000156596]
AlphaFold Q8VD37
Predicted Effect possibly damaging
Transcript: ENSMUST00000066824
AA Change: S59I

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: S59I

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 unknown
Transcript: ENSMUST00000072481
AA Change: S59I
SMART Domains Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: S59I

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 unknown
Transcript: ENSMUST00000080728
AA Change: S60I
SMART Domains Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: S60I

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 noncoding transcript
Transcript: ENSMUST00000097948
SMART Domains Protein: ENSMUSP00000095560
Gene: ENSMUSG00000028524

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
low complexity region 103 113 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000106882
AA Change: S60I
SMART Domains Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: S60I

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 noncoding transcript
Transcript: ENSMUST00000137592
Predicted Effect unknown
Transcript: ENSMUST00000183855
AA Change: S60I
SMART Domains Protein: ENSMUSP00000139337
Gene: ENSMUSG00000028524
AA Change: S60I

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
low complexity region 103 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156596
AA Change: S36I

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140289
Predicted Effect probably benign
Transcript: ENSMUST00000149547
SMART Domains Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,195,616 (GRCm39) R308H probably damaging Het
Alox5ap G A 5: 149,222,240 (GRCm39) probably null Het
Ap2s1 T C 7: 16,482,901 (GRCm39) V131A possibly damaging Het
Cdr2l GAA GA 11: 115,283,626 (GRCm39) probably null Het
Cpsf7 T C 19: 10,512,660 (GRCm39) L248P probably damaging Het
Dtd1 T C 2: 144,477,786 (GRCm39) probably null Het
Eci1 A G 17: 24,652,203 (GRCm39) D75G probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Luc7l A G 17: 26,499,020 (GRCm39) probably benign Het
Med13 A C 11: 86,210,515 (GRCm39) D542E probably benign Het
Myo6 T C 9: 80,173,494 (GRCm39) S545P possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Or4k37 A G 2: 111,159,252 (GRCm39) I163V probably benign Het
Rsad2 T A 12: 26,500,675 (GRCm39) N204I probably benign Het
Setd5 T G 6: 113,096,571 (GRCm39) N592K possibly damaging Het
Slc39a5 A G 10: 128,231,929 (GRCm39) V532A probably benign Het
Smarcc2 G A 10: 128,299,612 (GRCm39) M123I possibly damaging Het
Tdrd1 A G 19: 56,827,551 (GRCm39) T185A probably benign Het
Tnn T C 1: 159,938,079 (GRCm39) E1146G possibly damaging Het
Unc13a T C 8: 72,083,203 (GRCm39) K1618E probably damaging Het
Vmn2r120 A G 17: 57,815,958 (GRCm39) L799P probably damaging Het
Vps26c C T 16: 94,313,112 (GRCm39) E60K possibly 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
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
R5384:Sgip1 UTSW 4 102,791,763 (GRCm39) missense possibly damaging 0.46
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'- CATAGGCTTCTCGTTCAGTGCC -3'
(R):5'- TCCTAAGCATGATGGACATTTCC -3'

Sequencing Primer
(F):5'- CCCAGTTACACCAGTGTGC -3'
(R):5'- GATGGACATTTCCTAGTGAAGCC -3'
Posted On 2014-10-16