Incidental Mutation 'R6855:Sgip1'
| ID |
535188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgip1
|
| Ensembl Gene |
ENSMUSG00000028524 |
| Gene Name |
SH3-domain GRB2-like (endophilin) interacting protein 1 |
| Synonyms |
3110007P09Rik |
| MMRRC Submission |
045024-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102616351-102834623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102819573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 560
(C560R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066824]
[ENSMUST00000072481]
[ENSMUST00000080728]
[ENSMUST00000106882]
|
| AlphaFold |
Q8VD37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066824
AA Change: C413R
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: C413R
| 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: C393R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: C393R
| 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: C560R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: C560R
| 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: C580R
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: C580R
| 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: C328R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,114,844 (GRCm39) |
S228F |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,141,901 (GRCm39) |
M3062K |
possibly damaging |
Het |
| Cdh8 |
G |
C |
8: 99,916,849 (GRCm39) |
S422C |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,245,544 (GRCm39) |
K98N |
probably damaging |
Het |
| Cyp3a57 |
T |
A |
5: 145,309,376 (GRCm39) |
L238H |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,255,501 (GRCm39) |
R2399H |
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,754,694 (GRCm39) |
H1568P |
probably benign |
Het |
| Dkk2 |
T |
G |
3: 131,883,683 (GRCm39) |
C194W |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,387,881 (GRCm39) |
R369C |
probably damaging |
Het |
| Efcab7 |
T |
G |
4: 99,757,777 (GRCm39) |
L308* |
probably null |
Het |
| Elp2 |
T |
A |
18: 24,739,934 (GRCm39) |
N53K |
possibly damaging |
Het |
| Eml6 |
T |
C |
11: 29,701,381 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,468,286 (GRCm39) |
E913* |
probably null |
Het |
| Fam186a |
T |
A |
15: 99,852,756 (GRCm39) |
Y154F |
unknown |
Het |
| Fhl3 |
G |
A |
4: 124,601,315 (GRCm39) |
D113N |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,216,843 (GRCm39) |
M2149K |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,268,380 (GRCm39) |
Y1251H |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,859 (GRCm39) |
G262W |
probably null |
Het |
| Gm14325 |
T |
A |
2: 177,474,635 (GRCm39) |
H148L |
probably damaging |
Het |
| Grxcr1 |
C |
A |
5: 68,189,437 (GRCm39) |
N69K |
possibly damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrp1b |
G |
C |
2: 40,518,708 (GRCm39) |
H175D |
possibly damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,782,250 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,904,151 (GRCm39) |
F291L |
probably benign |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Nfil3 |
T |
A |
13: 53,122,641 (GRCm39) |
K88* |
probably null |
Het |
| Nit1 |
A |
C |
1: 171,171,130 (GRCm39) |
V194G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,017,835 (GRCm39) |
M1052V |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,044,231 (GRCm39) |
T511A |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,961,794 (GRCm39) |
M459I |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,513 (GRCm39) |
N3D |
probably benign |
Het |
| Peg3 |
A |
C |
7: 6,711,797 (GRCm39) |
S1142A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,859,204 (GRCm39) |
K959N |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,223,950 (GRCm39) |
|
probably null |
Het |
| Pigz |
A |
G |
16: 31,764,036 (GRCm39) |
I365V |
possibly damaging |
Het |
| Plec |
T |
A |
15: 76,070,818 (GRCm39) |
Q860L |
probably damaging |
Het |
| Poglut2 |
C |
A |
1: 44,149,987 (GRCm39) |
E401* |
probably null |
Het |
| Ppp5c |
T |
G |
7: 16,740,891 (GRCm39) |
D359A |
possibly damaging |
Het |
| Pvr |
C |
T |
7: 19,643,139 (GRCm39) |
A365T |
possibly damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rasa3 |
A |
T |
8: 13,635,029 (GRCm39) |
L430Q |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,208,911 (GRCm39) |
V198G |
probably benign |
Het |
| Rnf38 |
C |
T |
4: 44,149,224 (GRCm39) |
R41H |
probably damaging |
Het |
| Rptn |
G |
A |
3: 93,305,558 (GRCm39) |
V964I |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,271,719 (GRCm39) |
D263G |
probably benign |
Het |
| Shisal2b |
T |
C |
13: 105,000,214 (GRCm39) |
Q3R |
probably benign |
Het |
| Sidt1 |
A |
C |
16: 44,065,706 (GRCm39) |
I734S |
probably null |
Het |
| Ssh1 |
G |
T |
5: 114,080,636 (GRCm39) |
D931E |
probably damaging |
Het |
| Thumpd2 |
C |
A |
17: 81,351,599 (GRCm39) |
R274I |
probably damaging |
Het |
| Tpi1 |
T |
C |
6: 124,789,426 (GRCm39) |
D183G |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,754,883 (GRCm39) |
Y205N |
probably damaging |
Het |
| Tsc22d2 |
G |
A |
3: 58,324,235 (GRCm39) |
V376M |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,402,569 (GRCm39) |
V2454A |
possibly damaging |
Het |
| Uspl1 |
C |
A |
5: 149,124,655 (GRCm39) |
S24Y |
probably damaging |
Het |
| Vmn1r58 |
A |
C |
7: 5,413,451 (GRCm39) |
W260G |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
| Zfp868 |
A |
C |
8: 70,064,230 (GRCm39) |
H368Q |
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 |
|
|
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'- GACTGGAGTTCTCAAGCAAGC -3'
(R):5'- TGTCAGCACAGTACACAGG -3'
Sequencing Primer
(F):5'- TCTCAAGCAAGCTAGAAGTGACTTG -3'
(R):5'- TCAGCACAGTACACAGGGTGTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation