Incidental Mutation 'R6226:Sgip1'
ID 504326
Institutional Source Beutler Lab
Gene Symbol Sgip1
Ensembl Gene ENSMUSG00000028524
Gene Name SH3-domain GRB2-like (endophilin) interacting protein 1
Synonyms 3110007P09Rik
MMRRC Submission 044397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 102616351-102834623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102823392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 524 (N524S)
Ref Sequence ENSEMBL: ENSMUSP00000063712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066824] [ENSMUST00000072481] [ENSMUST00000080728] [ENSMUST00000106882]
AlphaFold Q8VD37
Predicted Effect probably damaging
Transcript: ENSMUST00000066824
AA Change: N524S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: N524S

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
AA Change: N504S

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: N504S

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
AA Change: N671S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: N671S

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: N691S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: N691S

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: ENSMUST00000140676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149348
Predicted Effect unknown
Transcript: ENSMUST00000149547
AA Change: N439S
SMART Domains Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524
AA Change: N439S

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,293,853 (GRCm39) T62A probably benign Het
Adam33 G A 2: 130,897,530 (GRCm39) T265I probably damaging Het
Afap1l2 T C 19: 56,904,560 (GRCm39) T654A probably benign Het
Agrn A G 4: 156,258,066 (GRCm39) S992P probably damaging Het
Anapc1 A G 2: 128,492,292 (GRCm39) F939L probably damaging Het
Anks1 G A 17: 28,276,304 (GRCm39) V1016I probably benign Het
Ankzf1 A G 1: 75,173,238 (GRCm39) T401A probably benign Het
Atad1 G T 19: 32,678,987 (GRCm39) D105E probably benign Het
Carmil2 A G 8: 106,415,664 (GRCm39) T313A possibly damaging Het
Cdk15 T C 1: 59,304,792 (GRCm39) V131A probably damaging Het
Cldnd1 A T 16: 58,551,663 (GRCm39) probably null Het
Col16a1 A T 4: 129,948,882 (GRCm39) probably benign Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Dnah7b A C 1: 46,165,828 (GRCm39) K498Q probably benign Het
Dnase2b A G 3: 146,290,318 (GRCm39) Y218H probably benign Het
Dsg2 T A 18: 20,712,506 (GRCm39) V170D probably damaging Het
Dst T C 1: 34,309,955 (GRCm39) V1543A probably damaging Het
Ell3 A T 2: 121,272,258 (GRCm39) I72K probably damaging Het
Fank1 A G 7: 133,463,927 (GRCm39) Y41C probably benign Het
Foxd3 T C 4: 99,545,261 (GRCm39) Y134H probably damaging Het
Frmd6 A G 12: 70,910,685 (GRCm39) probably benign Het
Gale A G 4: 135,692,916 (GRCm39) E53G possibly damaging Het
Glis3 A G 19: 28,294,702 (GRCm39) S699P probably damaging Het
Gm12830 T A 4: 114,702,246 (GRCm39) M136K unknown Het
Grik3 T C 4: 125,553,582 (GRCm39) V438A probably benign Het
Gsap A G 5: 21,422,429 (GRCm39) N133D probably damaging Het
Gsg1 T A 6: 135,217,110 (GRCm39) D239V probably damaging Het
H2-T10 A T 17: 36,431,975 (GRCm39) W23R probably damaging Het
Itgae A G 11: 73,031,583 (GRCm39) T1100A probably benign Het
Kcnh7 A T 2: 62,607,903 (GRCm39) F559L probably damaging Het
Kdm5b G T 1: 134,536,616 (GRCm39) R612L probably damaging Het
Lrrc74a T A 12: 86,795,231 (GRCm39) N253K possibly damaging Het
Mcm3ap A G 10: 76,351,540 (GRCm39) H1961R possibly damaging Het
Ncam1 C T 9: 49,476,304 (GRCm39) E262K probably benign Het
Nckap1 A G 2: 80,339,125 (GRCm39) S968P possibly damaging Het
Nkapd1 T C 9: 50,519,070 (GRCm39) T181A possibly damaging Het
Nr2f2 T G 7: 70,009,744 (GRCm39) S112R probably benign Het
Nup93 T C 8: 95,013,165 (GRCm39) W137R probably damaging Het
Or10ag53 A G 2: 87,082,736 (GRCm39) S152G probably benign Het
Or2t26 A G 11: 49,039,660 (GRCm39) D192G possibly damaging Het
Or4a78 A T 2: 89,497,333 (GRCm39) L299H probably damaging Het
Or52n1 A T 7: 104,383,243 (GRCm39) F109L probably damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Or8b55 T C 9: 38,727,666 (GRCm39) I289T probably damaging Het
Otogl A T 10: 107,607,067 (GRCm39) Y2105* probably null Het
Pibf1 A G 14: 99,338,555 (GRCm39) S24G probably damaging Het
Pitx2 C T 3: 129,009,491 (GRCm39) R130W probably damaging Het
Pkd1l1 T C 11: 8,851,287 (GRCm39) N715S probably benign Het
Pou6f2 A T 13: 18,303,739 (GRCm39) I123N possibly damaging Het
Prss29 T A 17: 25,539,513 (GRCm39) H35Q possibly damaging Het
Ptpn21 A G 12: 98,646,375 (GRCm39) F1028L probably benign Het
Ptpn21 A T 12: 98,681,431 (GRCm39) Y68N probably damaging Het
Ptprk A G 10: 28,440,099 (GRCm39) T856A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl22l1 A G 3: 28,860,676 (GRCm39) T13A possibly damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sec14l5 G A 16: 4,994,429 (GRCm39) V408I probably damaging Het
Serpina5 T C 12: 104,068,037 (GRCm39) S33P possibly damaging Het
Shkbp1 C A 7: 27,051,405 (GRCm39) R218M probably null Het
Sorcs1 T A 19: 50,169,852 (GRCm39) I970F probably damaging Het
Spg11 A G 2: 121,918,743 (GRCm39) V962A possibly damaging Het
Sptbn1 A G 11: 30,086,054 (GRCm39) M1205T probably damaging Het
Sufu G A 19: 46,462,093 (GRCm39) V369M probably damaging Het
Tmem98 T C 11: 80,712,220 (GRCm39) F219S probably benign Het
Trim27 T C 13: 21,365,086 (GRCm39) probably benign Het
Trim43b T C 9: 88,973,328 (GRCm39) E135G possibly damaging Het
Ube2m A G 7: 12,769,815 (GRCm39) V110A probably damaging Het
Ugt2b36 A G 5: 87,239,989 (GRCm39) V132A probably damaging Het
Usp36 A T 11: 118,168,100 (GRCm39) S86T probably damaging Het
Zfp941 A T 7: 140,392,398 (GRCm39) D320E probably benign 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
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
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'- GTCACAGTTACCTCAAGGACCC -3'
(R):5'- AAGCTGTTTACCAGACTGCTG -3'

Sequencing Primer
(F):5'- GGGATCCCATTTGTGAGCATCAC -3'
(R):5'- CTGGAGGAAGCACAGCCTG -3'
Posted On 2018-02-28