Incidental Mutation 'R1715:Sgip1'
| ID |
190918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgip1
|
| Ensembl Gene |
ENSMUSG00000028524 |
| Gene Name |
SH3-domain GRB2-like (endophilin) interacting protein 1 |
| Synonyms |
3110007P09Rik |
| MMRRC Submission |
039748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1715 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
102616351-102834623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102772256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 215
(V215A)
|
| 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: V215A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: V215A
| 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: V215A
|
| SMART Domains |
Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: V215A
| 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: V216A
|
| SMART Domains |
Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: V216A
| 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 |
unknown
Transcript: ENSMUST00000106882
AA Change: V216A
|
| SMART Domains |
Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: V216A
| 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 |
unknown
Transcript: ENSMUST00000149547
AA Change: V108A
|
| SMART Domains |
Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524
AA Change: V108A
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,982,406 (GRCm39) |
T12M |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Atp10a |
G |
A |
7: 58,436,253 (GRCm39) |
V348I |
probably damaging |
Het |
| Best2 |
T |
C |
8: 85,737,852 (GRCm39) |
Y181C |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,946,521 (GRCm39) |
D442E |
probably damaging |
Het |
| Carmil3 |
T |
G |
14: 55,741,989 (GRCm39) |
V1153G |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,876,003 (GRCm39) |
I993M |
probably damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cip2a |
C |
T |
16: 48,826,082 (GRCm39) |
T383I |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,949,430 (GRCm39) |
L580P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,830 (GRCm39) |
E109G |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,256,384 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
G |
T |
8: 120,750,388 (GRCm39) |
W264L |
possibly damaging |
Het |
| Cyp2c38 |
T |
C |
19: 39,393,239 (GRCm39) |
H276R |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,085,914 (GRCm39) |
V409E |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,090,650 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,385,294 (GRCm39) |
N146S |
probably benign |
Het |
| Glt8d1 |
T |
C |
14: 30,733,478 (GRCm39) |
V321A |
possibly damaging |
Het |
| Gm5174 |
C |
T |
10: 86,492,776 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac10 |
G |
T |
15: 89,010,912 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,482,881 (GRCm39) |
D3144G |
possibly damaging |
Het |
| Ifna11 |
C |
T |
4: 88,738,473 (GRCm39) |
S93L |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,297,936 (GRCm39) |
N431S |
probably benign |
Het |
| Irf8 |
A |
T |
8: 121,481,127 (GRCm39) |
E237V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,075,993 (GRCm39) |
Y1769H |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,524,073 (GRCm39) |
N761D |
probably damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,269,469 (GRCm39) |
Y207C |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,739,583 (GRCm39) |
E765G |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,434,177 (GRCm39) |
D80G |
probably damaging |
Het |
| Or12k8 |
G |
A |
2: 36,975,188 (GRCm39) |
P191S |
probably damaging |
Het |
| Or2ag15 |
G |
C |
7: 106,340,755 (GRCm39) |
P129A |
probably damaging |
Het |
| Or7g18 |
A |
T |
9: 18,787,090 (GRCm39) |
I156F |
probably benign |
Het |
| Pcyt2 |
T |
A |
11: 120,506,677 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
T |
C |
6: 115,945,642 (GRCm39) |
T944A |
probably benign |
Het |
| Prss3b |
A |
G |
6: 41,009,870 (GRCm39) |
|
probably null |
Het |
| Psd4 |
A |
T |
2: 24,295,344 (GRCm39) |
I833F |
probably damaging |
Het |
| Psmd7 |
A |
G |
8: 108,307,817 (GRCm39) |
I222T |
probably benign |
Het |
| Rap2b |
A |
G |
3: 61,272,611 (GRCm39) |
E45G |
probably damaging |
Het |
| Rbm22 |
T |
C |
18: 60,693,916 (GRCm39) |
S7P |
possibly damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,680,144 (GRCm39) |
N107S |
probably damaging |
Het |
| Ripk2 |
T |
A |
4: 16,155,192 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
A |
14: 52,378,148 (GRCm39) |
C499S |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,414,870 (GRCm39) |
S515P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,796,343 (GRCm39) |
I1813V |
possibly damaging |
Het |
| Slc17a3 |
A |
T |
13: 24,040,724 (GRCm39) |
T317S |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,237,821 (GRCm39) |
N340S |
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,820,256 (GRCm39) |
I176V |
probably benign |
Het |
| Smim17 |
T |
C |
7: 6,432,325 (GRCm39) |
L89S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,386,051 (GRCm39) |
N95S |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,002,873 (GRCm39) |
K841E |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,092,024 (GRCm39) |
F570L |
possibly damaging |
Het |
| Tgm3 |
G |
A |
2: 129,868,734 (GRCm39) |
|
probably null |
Het |
| Tra2b |
T |
C |
16: 22,071,496 (GRCm39) |
Y128C |
possibly damaging |
Het |
| Vmn2r17 |
T |
C |
5: 109,576,110 (GRCm39) |
V327A |
probably benign |
Het |
| Wdr20rt |
A |
T |
12: 65,274,088 (GRCm39) |
D344V |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,363 (GRCm39) |
C515R |
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 |
|
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'- TGTCCTTAGGTGACCAACCAGGAAG -3'
(R):5'- AGGGGCTACCTCAAGTCTAACTGTG -3'
Sequencing Primer
(F):5'- CCAACCAGGAAGAAAATGTAGGTTC -3'
(R):5'- CAGCTTAGAGAACCTGATCTAGTCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation