Incidental Mutation 'R6917:Sgip1'
| ID |
539387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgip1
|
| Ensembl Gene |
ENSMUSG00000028524 |
| Gene Name |
SH3-domain GRB2-like (endophilin) interacting protein 1 |
| Synonyms |
3110007P09Rik |
| MMRRC Submission |
045038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102616351-102834623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102825388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 772
(R772G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066824]
[ENSMUST00000072481]
[ENSMUST00000080728]
[ENSMUST00000106882]
|
| AlphaFold |
Q8VD37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066824
AA Change: R605G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: R605G
| 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: R585G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: R585G
| 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: R752G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: R752G
| 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 damaging
Transcript: ENSMUST00000106882
AA Change: R772G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: R772G
| 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: R520G
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.6%
|
| Validation Efficiency |
96% (45/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,437,684 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
A |
T |
13: 68,768,876 (GRCm39) |
M1084K |
possibly damaging |
Het |
| Ak1 |
A |
G |
2: 32,521,164 (GRCm39) |
Y95C |
possibly damaging |
Het |
| Akap6 |
A |
G |
12: 53,115,951 (GRCm39) |
E1018G |
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,231,679 (GRCm39) |
S27P |
probably damaging |
Het |
| Ddx31 |
C |
T |
2: 28,782,421 (GRCm39) |
T588I |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,215 (GRCm39) |
W504R |
probably damaging |
Het |
| Echs1 |
T |
G |
7: 139,689,924 (GRCm39) |
M239L |
probably benign |
Het |
| Eno1b |
A |
G |
18: 48,180,656 (GRCm39) |
D278G |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,552,262 (GRCm39) |
T305A |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,614 (GRCm39) |
S152C |
probably damaging |
Het |
| Gngt1 |
A |
G |
6: 3,996,680 (GRCm39) |
D42G |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| H2-Aa |
T |
C |
17: 34,502,681 (GRCm39) |
T79A |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,743,013 (GRCm39) |
Y2116N |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,297,419 (GRCm39) |
M311T |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,622,268 (GRCm39) |
F277L |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,222,563 (GRCm39) |
I249T |
probably damaging |
Het |
| Ldb3 |
G |
A |
14: 34,277,321 (GRCm39) |
A351V |
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,155,446 (GRCm39) |
E996G |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,721 (GRCm39) |
D413G |
possibly damaging |
Het |
| Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,744,970 (GRCm39) |
E290G |
possibly damaging |
Het |
| Nos2 |
C |
T |
11: 78,842,053 (GRCm39) |
T735M |
possibly damaging |
Het |
| Or10ak12 |
A |
T |
4: 118,666,326 (GRCm39) |
L245H |
probably damaging |
Het |
| Or11h6 |
A |
G |
14: 50,880,680 (GRCm39) |
K314R |
possibly damaging |
Het |
| Or8g36 |
T |
A |
9: 39,422,495 (GRCm39) |
I174L |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,841,899 (GRCm39) |
L768P |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,475,823 (GRCm39) |
V302D |
possibly damaging |
Het |
| Ptgdr |
A |
T |
14: 45,096,067 (GRCm39) |
V215E |
possibly damaging |
Het |
| Rad51d |
C |
T |
11: 82,770,159 (GRCm39) |
R199Q |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rtel1 |
ATT |
ATTTT |
2: 180,980,070 (GRCm39) |
|
probably null |
Het |
| Slc19a2 |
C |
A |
1: 164,088,578 (GRCm39) |
T141N |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,262,908 (GRCm39) |
N379K |
probably damaging |
Het |
| Thrap3 |
A |
G |
4: 126,074,285 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
T |
G |
17: 81,351,543 (GRCm39) |
I293L |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,949,436 (GRCm39) |
S1649P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,889,864 (GRCm39) |
S326G |
probably benign |
Het |
| Txndc9 |
A |
C |
1: 38,034,887 (GRCm39) |
S6A |
probably benign |
Het |
| Uhrf1 |
T |
C |
17: 56,616,574 (GRCm39) |
Y131H |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,741,832 (GRCm39) |
D379G |
possibly damaging |
Het |
| Vsig2 |
T |
A |
9: 37,452,745 (GRCm39) |
S105T |
probably benign |
Het |
| Zfp445 |
A |
T |
9: 122,691,359 (GRCm39) |
|
probably null |
Het |
| Zfp654 |
A |
T |
16: 64,606,834 (GRCm39) |
M456K |
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 |
|
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'- TCAAAGTACCGCTCTGCTGAC -3'
(R):5'- TCACAGCCAGTTCCTGTTCG -3'
Sequencing Primer
(F):5'- TGCTCAGGCTCCTCAAAGATG -3'
(R):5'- TTCGAGGAGGGAGAGCTACCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation