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)
|
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
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 |
unknown
Transcript: ENSMUST00000072481
AA Change: S59I
|
SMART Domains |
Protein: ENSMUSP00000072301 Gene: ENSMUSG00000028524 AA Change: S59I
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 |
unknown
Transcript: ENSMUST00000080728
AA Change: S60I
|
SMART Domains |
Protein: ENSMUSP00000079553 Gene: ENSMUSG00000028524 AA Change: S60I
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 |
noncoding transcript
Transcript: ENSMUST00000097948
|
SMART Domains |
Protein: ENSMUSP00000095560 Gene: ENSMUSG00000028524
Domain | Start | End | E-Value | Type |
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
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: ENSMUST00000137592
|
Predicted Effect |
unknown
Transcript: ENSMUST00000183855
AA Change: S60I
|
SMART Domains |
Protein: ENSMUSP00000139337 Gene: ENSMUSG00000028524 AA Change: S60I
Domain | Start | End | E-Value | Type |
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
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 |
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |