Incidental Mutation 'R0689:Sgip1'
| ID |
218716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgip1
|
| Ensembl Gene |
ENSMUSG00000028524 |
| Gene Name |
SH3-domain GRB2-like (endophilin) interacting protein 1 |
| Synonyms |
3110007P09Rik |
| MMRRC Submission |
038874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0689 (G1)
|
| Quality Score |
27 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102616351-102834623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102823449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 690
(D690V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066824]
[ENSMUST00000072481]
[ENSMUST00000080728]
[ENSMUST00000106882]
|
| AlphaFold |
Q8VD37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066824
AA Change: D543V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: D543V
| 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: D523V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: D523V
| 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: D690V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: D690V
| 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 |
possibly damaging
Transcript: ENSMUST00000106882
AA Change: D710V
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: D710V
| 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: D458V
|
| SMART Domains |
Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524
AA Change: D458V
| 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 |
|
| Meta Mutation Damage Score |
0.0977 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
A |
7: 28,596,474 (GRCm39) |
G674W |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,130,668 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,623,224 (GRCm39) |
V3800I |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,587,277 (GRCm39) |
Y93H |
probably damaging |
Het |
| Aldh1a3 |
T |
A |
7: 66,051,753 (GRCm39) |
D400V |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,796,411 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,832,073 (GRCm39) |
R745L |
probably damaging |
Het |
| Cadm3 |
T |
A |
1: 173,172,019 (GRCm39) |
T185S |
possibly damaging |
Het |
| Cep85l |
G |
T |
10: 53,224,943 (GRCm39) |
D215E |
probably damaging |
Het |
| Ces1g |
A |
G |
8: 94,055,035 (GRCm39) |
S221P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,722,668 (GRCm39) |
V138M |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,619,421 (GRCm39) |
F1714I |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,812 (GRCm39) |
L279P |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,659,840 (GRCm39) |
Q723* |
probably null |
Het |
| Dnaja2 |
A |
G |
8: 86,273,347 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,468,450 (GRCm39) |
V162A |
possibly damaging |
Het |
| Dok4 |
T |
C |
8: 95,597,547 (GRCm39) |
T3A |
probably benign |
Het |
| Efcab7 |
T |
C |
4: 99,761,981 (GRCm39) |
W424R |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,242,392 (GRCm39) |
|
probably null |
Het |
| Fam120a |
T |
C |
13: 49,121,114 (GRCm39) |
D64G |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gas8 |
T |
G |
8: 124,250,845 (GRCm39) |
L106R |
probably damaging |
Het |
| Gykl1 |
T |
G |
18: 52,827,123 (GRCm39) |
N110K |
possibly damaging |
Het |
| Hsd3b3 |
G |
T |
3: 98,649,295 (GRCm39) |
L343I |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,024,098 (GRCm39) |
S234T |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,065,259 (GRCm39) |
I61F |
possibly damaging |
Het |
| Klf6 |
T |
A |
13: 5,915,115 (GRCm39) |
S185T |
probably damaging |
Het |
| Klk1b1 |
A |
C |
7: 43,620,143 (GRCm39) |
K202T |
probably benign |
Het |
| Liph |
T |
C |
16: 21,786,818 (GRCm39) |
Y268C |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,783,400 (GRCm39) |
D574N |
probably damaging |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,322,562 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
A |
3: 114,916,194 (GRCm39) |
N355K |
probably benign |
Het |
| Or4k15c |
A |
T |
14: 50,321,689 (GRCm39) |
F150I |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,370 (GRCm39) |
T500A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,764,033 (GRCm39) |
I4169V |
unknown |
Het |
| Pde4d |
T |
C |
13: 109,877,078 (GRCm39) |
S144P |
possibly damaging |
Het |
| Pgghg |
T |
C |
7: 140,523,191 (GRCm39) |
Y157H |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,674,947 (GRCm39) |
|
probably null |
Het |
| Ppp1r14d |
T |
C |
2: 119,060,093 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Skp1 |
T |
C |
11: 52,134,592 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,141,837 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Slc37a2 |
A |
G |
9: 37,146,846 (GRCm39) |
|
probably benign |
Het |
| Snx6 |
A |
T |
12: 54,810,441 (GRCm39) |
S112T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,085,786 (GRCm39) |
V685A |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,926,461 (GRCm39) |
V163E |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,711,253 (GRCm39) |
|
probably benign |
Het |
| Tmem30c |
A |
G |
16: 57,090,536 (GRCm39) |
Y224H |
probably damaging |
Het |
| Tmem45b |
T |
C |
9: 31,339,879 (GRCm39) |
N173D |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,630,300 (GRCm39) |
|
noncoding transcript |
Het |
| Triobp |
A |
T |
15: 78,844,188 (GRCm39) |
K135* |
probably null |
Het |
| Ttll9 |
T |
A |
2: 152,825,047 (GRCm39) |
D75E |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,609 (GRCm39) |
I8V |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,782 (GRCm39) |
S595P |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,234 (GRCm39) |
Q504* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,791,734 (GRCm39) |
D103G |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,553,142 (GRCm39) |
K198R |
probably benign |
Het |
| Zfp64 |
C |
A |
2: 168,777,121 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAACCACAGCCTCTGGTTTTAG -3'
(R):5'- AGGAAAGCCTCTGCTCCATGCTTG -3'
Sequencing Primer
(F):5'- CAGCCTCTGGTTTTAGATCAACAG -3'
(R):5'- GCTTGCATGGTCAGCTAAAC -3'
|
| Posted On |
2014-08-20 |
Incidental Mutation