Incidental Mutation 'R5236:Sgip1'
ID 398369
Institutional Source Beutler Lab
Gene Symbol Sgip1
Ensembl Gene ENSMUSG00000028524
Gene Name SH3-domain GRB2-like (endophilin) interacting protein 1
Synonyms 3110007P09Rik
MMRRC Submission 044393-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5236 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 102616351-102834623 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 102784784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000066824] [ENSMUST00000072481] [ENSMUST00000080728] [ENSMUST00000106882] [ENSMUST00000106882]
AlphaFold Q8VD37
Predicted Effect probably null
Transcript: ENSMUST00000066824
SMART Domains Protein: ENSMUSP00000063712
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 391 658 5.9e-79 PFAM
Pfam:Adap_comp_sub 469 650 1.9e-9 PFAM
Predicted Effect probably null
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 null
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 null
Transcript: ENSMUST00000106882
SMART Domains Protein: ENSMUSP00000102495
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 558 825 1.7e-74 PFAM
Pfam:Adap_comp_sub 657 809 1.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106882
SMART Domains Protein: ENSMUSP00000102495
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 558 825 1.7e-74 PFAM
Pfam:Adap_comp_sub 657 809 1.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141624
Predicted Effect probably null
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
Predicted Effect probably null
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: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,820,120 (GRCm39) I180N possibly damaging Het
Actl9 T C 17: 33,653,073 (GRCm39) S378P probably damaging Het
Agrn A T 4: 156,263,315 (GRCm39) C263S possibly damaging Het
Ahnak A G 19: 8,978,048 (GRCm39) I56V possibly damaging Het
Arid4b A G 13: 14,301,034 (GRCm39) probably null Het
Bin2 T C 15: 100,560,415 (GRCm39) N49D probably damaging Het
Ccdc39 T C 3: 33,884,251 (GRCm39) T364A probably damaging Het
Cdcp1 A T 9: 123,014,258 (GRCm39) V172D probably damaging Het
Cdh23 A G 10: 60,148,351 (GRCm39) L2670P probably damaging Het
Cmtm4 G C 8: 105,084,378 (GRCm39) F105L probably damaging Het
Cspg4b A G 13: 113,502,754 (GRCm39) Y153C probably benign Het
Ctsa G A 2: 164,680,831 (GRCm39) V453M probably damaging Het
Cyp3a59 A G 5: 146,039,635 (GRCm39) I303V probably benign Het
Cyp4f17 T C 17: 32,739,606 (GRCm39) probably null Het
Dst C T 1: 34,203,498 (GRCm39) R447C probably damaging Het
E2f7 C T 10: 110,603,070 (GRCm39) P362S probably damaging Het
Fbxw9 A G 8: 85,792,974 (GRCm39) T407A probably damaging Het
Fyb2 T C 4: 104,805,957 (GRCm39) S346P probably benign Het
Git2 T A 5: 114,905,233 (GRCm39) I75L probably damaging Het
H2-DMa T A 17: 34,356,913 (GRCm39) L137Q probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrg T C 16: 22,780,263 (GRCm39) probably benign Het
Htr7 A T 19: 36,034,169 (GRCm39) I162N probably damaging Het
Itpripl1 A T 2: 126,983,770 (GRCm39) F117L probably damaging Het
Kri1 T C 9: 21,187,237 (GRCm39) Y392C probably damaging Het
Krt27 A C 11: 99,241,641 (GRCm39) S87A possibly damaging Het
Lama1 T C 17: 68,111,487 (GRCm39) V2246A probably benign Het
Lcn2 A T 2: 32,275,973 (GRCm39) M119K probably benign Het
Lrp2 T C 2: 69,287,163 (GRCm39) probably null Het
Lrp6 T C 6: 134,488,227 (GRCm39) N290D probably damaging Het
Macf1 T C 4: 123,291,614 (GRCm39) E2517G probably damaging Het
Melk G A 4: 44,344,959 (GRCm39) C363Y probably benign Het
Mettl22 T A 16: 8,306,597 (GRCm39) L351* probably null Het
Mms22l A G 4: 24,588,347 (GRCm39) Q953R probably benign Het
Ndufaf7 T C 17: 79,247,060 (GRCm39) S107P probably benign Het
Opa3 A G 7: 18,978,682 (GRCm39) Y49C probably damaging Het
Or2a12 A C 6: 42,904,715 (GRCm39) R183S probably benign Het
Or9a2 C A 6: 41,749,045 (GRCm39) G63C probably benign Het
Pabpn1 T A 14: 55,132,399 (GRCm39) M145K possibly damaging Het
Plce1 A C 19: 38,758,791 (GRCm39) M1982L probably benign Het
Ppcdc A C 9: 57,321,937 (GRCm39) I201S probably benign Het
Rag2 A T 2: 101,460,005 (GRCm39) D105V probably damaging Het
Rnf130 C T 11: 49,986,805 (GRCm39) T383I probably damaging Het
Slc23a2 T A 2: 131,917,504 (GRCm39) I245F probably damaging Het
Slc4a9 A G 18: 36,663,900 (GRCm39) Y308C probably benign Het
Slc7a15 C T 12: 8,589,005 (GRCm39) V181M probably benign Het
Sprr2b G A 3: 92,224,943 (GRCm39) C63Y unknown Het
Stpg2 A T 3: 138,937,984 (GRCm39) Y181F probably damaging Het
Sult2a5 A T 7: 13,398,974 (GRCm39) T194S probably benign Het
Tbx15 A T 3: 99,259,362 (GRCm39) Q411L possibly damaging Het
Tln2 T A 9: 67,273,205 (GRCm39) E427V probably damaging Het
Trpv4 A C 5: 114,760,856 (GRCm39) V825G possibly damaging Het
Trrap A G 5: 144,754,596 (GRCm39) I1968V probably benign Het
Ttn G A 2: 76,619,146 (GRCm39) L16078F probably damaging Het
Unc45b T A 11: 82,805,888 (GRCm39) F132I possibly damaging Het
Unc79 T A 12: 103,060,654 (GRCm39) probably null Het
Vmn2r71 A T 7: 85,272,877 (GRCm39) N564Y probably damaging Het
Zfp638 G T 6: 83,953,557 (GRCm39) E1221* probably null Het
Zfp934 A T 13: 62,665,527 (GRCm39) H371Q probably damaging Het
Zranb3 A G 1: 127,968,726 (GRCm39) L63P 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
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'- ATGCCAGACATTGCCCTGTG -3'
(R):5'- ACCATTTTAGATCATGGCTTGC -3'

Sequencing Primer
(F):5'- GTGCACTGCCGCCTTCTG -3'
(R):5'- CTTGCAAGCTGGGAGGAATCTG -3'
Posted On 2016-07-06