Incidental Mutation 'IGL01945:Sgip1'
ID |
279226 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL01945
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
102616351-102834623 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102823439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 707
(Y707H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066824]
[ENSMUST00000072481]
[ENSMUST00000080728]
[ENSMUST00000106882]
|
AlphaFold |
Q8VD37 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066824
AA Change: Y540H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063712 Gene: ENSMUSG00000028524 AA Change: Y540H
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000072481
AA Change: Y520H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072301 Gene: ENSMUSG00000028524 AA Change: Y520H
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000080728
AA Change: Y687H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079553 Gene: ENSMUSG00000028524 AA Change: Y687H
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000106882
AA Change: Y707H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102495 Gene: ENSMUSG00000028524 AA Change: Y707H
Domain | Start | End | E-Value | Type |
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: Y455H
|
SMART Domains |
Protein: ENSMUSP00000122556 Gene: ENSMUSG00000028524 AA Change: Y455H
Domain | Start | End | E-Value | Type |
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
C |
11: 109,974,130 (GRCm39) |
|
probably benign |
Het |
Acta2 |
A |
G |
19: 34,229,254 (GRCm39) |
V45A |
probably benign |
Het |
Adam11 |
G |
A |
11: 102,663,736 (GRCm39) |
V305M |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,111,891 (GRCm39) |
K919E |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,889,934 (GRCm39) |
T101A |
probably benign |
Het |
Apbb2 |
T |
A |
5: 66,557,594 (GRCm39) |
D289V |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,650,612 (GRCm39) |
V520A |
possibly damaging |
Het |
Atp5mc3 |
G |
A |
2: 73,741,313 (GRCm39) |
R9C |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,263,609 (GRCm39) |
L375P |
probably damaging |
Het |
Cavin1 |
A |
T |
11: 100,861,246 (GRCm39) |
F16Y |
probably benign |
Het |
Ccdc185 |
C |
A |
1: 182,576,441 (GRCm39) |
V83L |
probably benign |
Het |
Ccdc80 |
T |
A |
16: 44,938,608 (GRCm39) |
S772T |
probably damaging |
Het |
Cntn4 |
T |
A |
6: 106,414,865 (GRCm39) |
V132E |
probably damaging |
Het |
Coa5 |
A |
T |
1: 37,468,979 (GRCm39) |
C24S |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,805,489 (GRCm39) |
V1139D |
unknown |
Het |
Ddx46 |
C |
A |
13: 55,802,885 (GRCm39) |
S469* |
probably null |
Het |
Ep300 |
A |
G |
15: 81,500,310 (GRCm39) |
|
probably benign |
Het |
Fcna |
A |
T |
2: 25,517,847 (GRCm39) |
M1K |
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gstm3 |
T |
C |
3: 107,874,973 (GRCm39) |
E93G |
probably damaging |
Het |
Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
Hepacam2 |
T |
A |
6: 3,487,117 (GRCm39) |
Y4F |
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,651,320 (GRCm39) |
I1148V |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,141,613 (GRCm39) |
T9A |
possibly damaging |
Het |
Kl |
A |
T |
5: 150,912,402 (GRCm39) |
D717V |
probably damaging |
Het |
Krt75 |
G |
A |
15: 101,478,599 (GRCm39) |
T345M |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,047,953 (GRCm39) |
H260Q |
probably damaging |
Het |
Nckap1l |
G |
A |
15: 103,370,069 (GRCm39) |
G156D |
probably damaging |
Het |
Nlrp1b |
T |
G |
11: 71,072,233 (GRCm39) |
T537P |
probably damaging |
Het |
Nudt17 |
A |
G |
3: 96,614,355 (GRCm39) |
I201T |
probably damaging |
Het |
Or5k3 |
T |
C |
16: 58,969,827 (GRCm39) |
S205P |
probably benign |
Het |
Or6c8 |
A |
T |
10: 128,915,172 (GRCm39) |
I220N |
probably damaging |
Het |
Or7g27 |
A |
T |
9: 19,250,628 (GRCm39) |
S291C |
probably damaging |
Het |
Padi6 |
T |
C |
4: 140,469,235 (GRCm39) |
D35G |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,062,711 (GRCm39) |
Y107F |
probably benign |
Het |
Plek2 |
T |
A |
12: 78,938,922 (GRCm39) |
H279L |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,535,588 (GRCm39) |
D470G |
possibly damaging |
Het |
Ranbp17 |
T |
C |
11: 33,278,520 (GRCm39) |
T116A |
possibly damaging |
Het |
Rbck1 |
G |
A |
2: 152,160,236 (GRCm39) |
P481L |
probably damaging |
Het |
Reps1 |
A |
G |
10: 17,969,584 (GRCm39) |
N229S |
probably benign |
Het |
Rngtt |
T |
C |
4: 33,339,073 (GRCm39) |
W293R |
probably damaging |
Het |
Robo1 |
A |
T |
16: 72,759,114 (GRCm39) |
I376F |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,805,249 (GRCm39) |
I872F |
probably damaging |
Het |
Slc17a5 |
G |
T |
9: 78,495,214 (GRCm39) |
D12E |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,189,715 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Strap |
A |
G |
6: 137,718,333 (GRCm39) |
I146V |
probably benign |
Het |
Tcim |
A |
T |
8: 24,928,892 (GRCm39) |
H7Q |
probably benign |
Het |
Tgfbr3 |
A |
G |
5: 107,269,224 (GRCm39) |
|
probably null |
Het |
Thada |
G |
T |
17: 84,530,194 (GRCm39) |
T1725N |
probably benign |
Het |
Trhr |
T |
C |
15: 44,060,540 (GRCm39) |
V20A |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wnt5a |
A |
G |
14: 28,240,519 (GRCm39) |
N223S |
probably damaging |
Het |
|
Other mutations in Sgip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
|
|
Posted On |
2015-04-16 |