Incidental Mutation 'R8508:Sgip1'
ID |
655685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgip1
|
Ensembl Gene |
ENSMUSG00000028524 |
Gene Name |
SH3-domain GRB2-like (endophilin) interacting protein 1 |
Synonyms |
3110007P09Rik |
MMRRC Submission |
067844-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8508 (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 102772268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 219
(Q219R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066824]
[ENSMUST00000072481]
[ENSMUST00000080728]
[ENSMUST00000106882]
[ENSMUST00000183855]
|
AlphaFold |
Q8VD37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066824
AA Change: Q219R
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000063712 Gene: ENSMUSG00000028524 AA Change: Q219R
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: Q219R
|
SMART Domains |
Protein: ENSMUSP00000072301 Gene: ENSMUSG00000028524 AA Change: Q219R
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: Q220R
|
SMART Domains |
Protein: ENSMUSP00000079553 Gene: ENSMUSG00000028524 AA Change: Q220R
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 benign
Transcript: ENSMUST00000106882
AA Change: Q220R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102495 Gene: ENSMUSG00000028524 AA Change: Q220R
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 |
|
SMART Domains |
Protein: ENSMUSP00000122556 Gene: ENSMUSG00000028524 AA Change: Q112R
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183855
|
SMART Domains |
Protein: ENSMUSP00000139337 Gene: ENSMUSG00000028524
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
low complexity region
|
103 |
113 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
G |
16: 90,852,500 (GRCm39) |
Y212S |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,375,795 (GRCm39) |
N154D |
probably damaging |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
Ankrd27 |
T |
A |
7: 35,301,051 (GRCm39) |
L117* |
probably null |
Het |
Arhgap21 |
C |
T |
2: 20,858,991 (GRCm39) |
M1234I |
probably benign |
Het |
Arhgef33 |
A |
G |
17: 80,674,764 (GRCm39) |
E387G |
probably damaging |
Het |
Atp13a4 |
T |
A |
16: 29,273,587 (GRCm39) |
K444* |
probably null |
Het |
Atp6v1a |
G |
A |
16: 43,922,225 (GRCm39) |
R338C |
probably damaging |
Het |
Canx |
T |
C |
11: 50,202,474 (GRCm39) |
D44G |
possibly damaging |
Het |
Ccdc141 |
T |
A |
2: 76,962,588 (GRCm39) |
M119L |
probably benign |
Het |
Ckmt1 |
A |
C |
2: 121,193,172 (GRCm39) |
Q299P |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,196,812 (GRCm39) |
S601P |
probably damaging |
Het |
Dna2 |
A |
C |
10: 62,786,673 (GRCm39) |
R140S |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,384,138 (GRCm39) |
T670A |
probably benign |
Het |
Eif1ad10 |
T |
G |
12: 88,216,455 (GRCm39) |
E139A |
unknown |
Het |
Eogt |
A |
G |
6: 97,120,959 (GRCm39) |
S85P |
possibly damaging |
Het |
Fbf1 |
A |
T |
11: 116,056,707 (GRCm39) |
M1K |
probably null |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Flnb |
G |
A |
14: 7,950,394 (GRCm38) |
V2571I |
probably damaging |
Het |
Gm43518 |
A |
G |
5: 124,076,322 (GRCm39) |
E123G |
unknown |
Het |
Gpatch2 |
A |
G |
1: 187,036,552 (GRCm39) |
N374S |
probably benign |
Het |
Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
Hoxa11 |
T |
C |
6: 52,222,782 (GRCm39) |
|
probably benign |
Het |
Hydin |
G |
A |
8: 111,308,650 (GRCm39) |
V3979I |
probably benign |
Het |
Ighe |
C |
T |
12: 113,235,413 (GRCm39) |
W277* |
probably null |
Het |
Kmt2c |
G |
T |
5: 25,519,120 (GRCm39) |
T2330K |
probably benign |
Het |
Krt6a |
T |
A |
15: 101,601,170 (GRCm39) |
K261M |
probably damaging |
Het |
Lats2 |
A |
C |
14: 57,960,162 (GRCm39) |
S161A |
probably benign |
Het |
Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
Mphosph8 |
A |
T |
14: 56,914,003 (GRCm39) |
K415* |
probably null |
Het |
Npepps |
A |
G |
11: 97,135,252 (GRCm39) |
|
probably null |
Het |
Ntn4 |
A |
T |
10: 93,576,966 (GRCm39) |
N545Y |
possibly damaging |
Het |
Or11g1 |
A |
C |
14: 50,651,132 (GRCm39) |
M44L |
probably benign |
Het |
Or1n1b |
A |
G |
2: 36,780,366 (GRCm39) |
S165P |
probably damaging |
Het |
Or2m12 |
T |
C |
16: 19,105,451 (GRCm39) |
D14G |
probably benign |
Het |
Or9i2 |
A |
T |
19: 13,815,766 (GRCm39) |
M257K |
possibly damaging |
Het |
Osbpl2 |
T |
A |
2: 179,797,136 (GRCm39) |
V358E |
possibly damaging |
Het |
Pdcd11 |
C |
A |
19: 47,108,245 (GRCm39) |
P1204Q |
probably damaging |
Het |
Pnliprp2 |
A |
C |
19: 58,751,806 (GRCm39) |
S184R |
probably damaging |
Het |
Ppm1g |
G |
T |
5: 31,361,872 (GRCm39) |
R373S |
probably damaging |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Rps18-ps5 |
A |
G |
13: 28,441,694 (GRCm39) |
I26V |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,098,048 (GRCm39) |
S696P |
probably damaging |
Het |
Slc1a2 |
T |
C |
2: 102,566,430 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
T |
C |
19: 6,592,467 (GRCm39) |
T106A |
probably benign |
Het |
Slc22a14 |
A |
G |
9: 119,009,651 (GRCm39) |
L148P |
probably damaging |
Het |
Slc2a9 |
A |
T |
5: 38,539,421 (GRCm39) |
F375I |
probably damaging |
Het |
Sorbs3 |
A |
T |
14: 70,440,396 (GRCm39) |
D117E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,891,412 (GRCm39) |
L136P |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,254,221 (GRCm39) |
T1176I |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,419,046 (GRCm39) |
V193D |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 6,995,690 (GRCm39) |
T362A |
probably damaging |
Het |
Tctn1 |
T |
A |
5: 122,384,674 (GRCm39) |
Q410L |
probably benign |
Het |
Trbc2 |
T |
C |
6: 41,524,711 (GRCm39) |
Y133H |
|
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Vmn2r120 |
A |
G |
17: 57,832,843 (GRCm39) |
V112A |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
Zfp362 |
T |
C |
4: 128,668,399 (GRCm39) |
H391R |
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 |
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 |
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 |
|
R8997:Sgip1
|
UTSW |
4 |
102,790,781 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCTGTTCTCTGTCTAAAGAG -3'
(R):5'- CCCAGCTTAGAGAACCTGATCTAG -3'
Sequencing Primer
(F):5'- CTGTCTAAAGAGTGTGTGCAGCATAG -3'
(R):5'- TCTAGTCTGTTAGATAGTAATGCCTC -3'
|
Posted On |
2020-10-20 |