Incidental Mutation 'R4670:Sgip1'
| ID |
381223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgip1
|
| Ensembl Gene |
ENSMUSG00000028524 |
| Gene Name |
SH3-domain GRB2-like (endophilin) interacting protein 1 |
| Synonyms |
3110007P09Rik |
| MMRRC Submission |
041926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4670 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102616351-102834623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102726951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 53
(N53Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066824]
[ENSMUST00000072481]
[ENSMUST00000080728]
[ENSMUST00000106882]
[ENSMUST00000183855]
[ENSMUST00000156596]
|
| AlphaFold |
Q8VD37 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000066824
AA Change: N76Y
|
| SMART Domains |
Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: N76Y
| 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: N76Y
|
| SMART Domains |
Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: N76Y
| 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: N77Y
|
| SMART Domains |
Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: N77Y
| 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: N77Y
|
| SMART Domains |
Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: N77Y
| 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: ENSMUST00000140289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142430
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183855
AA Change: N77Y
|
| SMART Domains |
Protein: ENSMUSP00000139337
Gene: ENSMUSG00000028524
AA Change: N77Y
| 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 damaging
Transcript: ENSMUST00000156596
AA Change: N53Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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 |
|
| Meta Mutation Damage Score |
0.8471 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (69/71) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
T |
A |
7: 119,130,983 (GRCm39) |
|
probably null |
Het |
| Alb |
T |
A |
5: 90,610,665 (GRCm39) |
S82T |
probably benign |
Het |
| Arf4 |
A |
G |
14: 26,374,248 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,081,441 (GRCm39) |
E153G |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,484,897 (GRCm39) |
M200K |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,062,567 (GRCm39) |
N647Y |
probably benign |
Het |
| Atp5f1c |
A |
T |
2: 10,064,428 (GRCm39) |
L226Q |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
| Cadm3 |
T |
A |
1: 173,174,013 (GRCm39) |
T67S |
probably damaging |
Het |
| Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
| Chst7 |
C |
A |
X: 19,927,110 (GRCm39) |
R386S |
probably damaging |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,126 (GRCm39) |
M77L |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,117,684 (GRCm39) |
D50V |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,160 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
| Gm6471 |
G |
A |
7: 142,385,360 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
T |
A |
7: 38,101,981 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9271 |
T |
A |
7: 39,013,734 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
| Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
| Ift140 |
C |
A |
17: 25,317,935 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
C |
2: 10,195,180 (GRCm39) |
I191L |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,387,944 (GRCm39) |
M511T |
probably benign |
Het |
| Krt74 |
A |
T |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc37a |
A |
G |
11: 103,395,363 (GRCm39) |
S21P |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,756,240 (GRCm39) |
V672I |
probably benign |
Het |
| Lypd4 |
T |
C |
7: 24,566,151 (GRCm39) |
R58G |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,663,624 (GRCm39) |
|
probably null |
Het |
| Mefv |
T |
A |
16: 3,526,071 (GRCm39) |
L745F |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,255,564 (GRCm39) |
K1645* |
probably null |
Het |
| Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,171,382 (GRCm39) |
|
noncoding transcript |
Het |
| Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
| Or51aa2 |
A |
G |
7: 103,188,393 (GRCm39) |
V16A |
possibly damaging |
Het |
| Or6k6 |
T |
A |
1: 173,945,427 (GRCm39) |
M52L |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,512 (GRCm39) |
D180G |
possibly damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,325 (GRCm39) |
|
probably null |
Het |
| Pcx |
T |
A |
19: 4,669,916 (GRCm39) |
V861E |
probably damaging |
Het |
| Pkp3 |
C |
T |
7: 140,662,612 (GRCm39) |
P75S |
probably benign |
Het |
| Plscr4 |
T |
C |
9: 92,364,920 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,454,253 (GRCm39) |
T923A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rhot2 |
A |
C |
17: 26,060,305 (GRCm39) |
|
probably benign |
Het |
| Rsrp1 |
A |
G |
4: 134,651,488 (GRCm39) |
Y84C |
unknown |
Het |
| Sbf2 |
T |
C |
7: 109,934,606 (GRCm39) |
K1348E |
probably damaging |
Het |
| Snapc2 |
A |
G |
8: 4,304,998 (GRCm39) |
T127A |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,713 (GRCm39) |
|
probably null |
Het |
| Spag8 |
A |
G |
4: 43,653,378 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,076,503 (GRCm39) |
F718L |
probably damaging |
Het |
| Szt2 |
C |
G |
4: 118,233,026 (GRCm39) |
|
probably benign |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,004,146 (GRCm39) |
Y62* |
probably null |
Het |
| Usp29 |
T |
A |
7: 6,965,914 (GRCm39) |
S586T |
possibly damaging |
Het |
| Vasp |
T |
C |
7: 18,998,350 (GRCm39) |
N108S |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,141 (GRCm39) |
M212V |
probably benign |
Het |
| Wipi2 |
G |
C |
5: 142,645,345 (GRCm39) |
A194P |
probably benign |
Het |
| Zbtb4 |
T |
A |
11: 69,667,355 (GRCm39) |
I220N |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,917,996 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
T |
A |
13: 67,769,534 (GRCm39) |
K232* |
probably null |
Het |
| Zfp995 |
A |
T |
17: 22,106,320 (GRCm39) |
M1K |
probably null |
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 |
|
|
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'- AGCCCTTTAAACTAAGAGGCTGG -3'
(R):5'- CCTCGGGGAGAATTATTCATCTC -3'
Sequencing Primer
(F):5'- GAAAACATTTCCTCCATCATTTTGG -3'
(R):5'- CGGGGAGAATTATTCATCTCTGAGAC -3'
|
| Posted On |
2016-04-20 |
Incidental Mutation