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)
|
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
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 null
Transcript: ENSMUST00000072481
|
SMART Domains |
Protein: ENSMUSP00000072301 Gene: ENSMUSG00000028524
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 null
Transcript: ENSMUST00000080728
|
SMART Domains |
Protein: ENSMUSP00000079553 Gene: ENSMUSG00000028524
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 null
Transcript: ENSMUST00000106882
|
SMART Domains |
Protein: ENSMUSP00000102495 Gene: ENSMUSG00000028524
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 |
probably null
Transcript: ENSMUST00000106882
|
SMART Domains |
Protein: ENSMUSP00000102495 Gene: ENSMUSG00000028524
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: ENSMUST00000131431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141624
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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: 98.3%
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |