Incidental Mutation 'R5323:Sgip1'
| ID |
404956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgip1
|
| Ensembl Gene |
ENSMUSG00000028524 |
| Gene Name |
SH3-domain GRB2-like (endophilin) interacting protein 1 |
| Synonyms |
3110007P09Rik |
| MMRRC Submission |
042906-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
102616351-102834623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 102823477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 699
(N699K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066824]
[ENSMUST00000072481]
[ENSMUST00000080728]
[ENSMUST00000106882]
|
| AlphaFold |
Q8VD37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066824
AA Change: N552K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: N552K
| 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: N532K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: N532K
| 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: N699K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: N699K
| 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: N719K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: N719K
| 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: N467K
|
| SMART Domains |
Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524
AA Change: N467K
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
A |
7: 82,206,269 (GRCm39) |
C784S |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,745,989 (GRCm39) |
|
probably benign |
Het |
| Apon |
A |
G |
10: 128,090,907 (GRCm39) |
E195G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,275,944 (GRCm39) |
I334V |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,855,823 (GRCm39) |
A145E |
probably damaging |
Het |
| Capns1 |
G |
T |
7: 29,887,147 (GRCm39) |
F243L |
possibly damaging |
Het |
| Catsper2 |
A |
T |
2: 121,237,216 (GRCm39) |
I228N |
probably damaging |
Het |
| Ceacam14 |
A |
T |
7: 17,549,402 (GRCm39) |
*264C |
probably null |
Het |
| Cel |
A |
C |
2: 28,450,530 (GRCm39) |
V165G |
probably damaging |
Het |
| Cldnd1 |
T |
A |
16: 58,550,016 (GRCm39) |
D66E |
possibly damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,311,275 (GRCm39) |
C589* |
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,620,234 (GRCm39) |
H1554L |
probably damaging |
Het |
| Fbxw25 |
T |
A |
9: 109,492,573 (GRCm39) |
M55L |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,591 (GRCm39) |
H2187R |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,489 (GRCm39) |
T4741A |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,653,934 (GRCm39) |
I272N |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,049 (GRCm39) |
S212P |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,495 (GRCm39) |
|
probably null |
Het |
| Hpgds |
T |
C |
6: 65,109,169 (GRCm39) |
T81A |
probably benign |
Het |
| Insr |
G |
A |
8: 3,252,902 (GRCm39) |
T419I |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,140,059 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,799,289 (GRCm39) |
I951V |
possibly damaging |
Het |
| Lrrc4c |
T |
A |
2: 97,460,498 (GRCm39) |
C375S |
probably damaging |
Het |
| Muc17 |
G |
T |
5: 137,175,537 (GRCm39) |
C44* |
probably null |
Het |
| Mycbpap |
A |
T |
11: 94,394,330 (GRCm39) |
D313E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,813,931 (GRCm39) |
|
probably null |
Het |
| Ntsr2 |
C |
T |
12: 16,709,934 (GRCm39) |
S405F |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,870,682 (GRCm39) |
P21S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,887,703 (GRCm39) |
E7705D |
probably benign |
Het |
| Ogn |
A |
G |
13: 49,762,817 (GRCm39) |
D53G |
probably benign |
Het |
| Or10d5j |
A |
T |
9: 39,868,125 (GRCm39) |
Y35* |
probably null |
Het |
| Or14j10 |
A |
T |
17: 37,935,046 (GRCm39) |
I160K |
probably benign |
Het |
| Or5k8 |
G |
A |
16: 58,645,066 (GRCm39) |
T2I |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,413,883 (GRCm39) |
F33L |
possibly damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,980 (GRCm39) |
I199F |
possibly damaging |
Het |
| Pde6a |
G |
A |
18: 61,365,983 (GRCm39) |
R236H |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,443,837 (GRCm39) |
M85K |
probably damaging |
Het |
| Pirb |
A |
C |
7: 3,719,598 (GRCm39) |
I516S |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,794,706 (GRCm39) |
I737N |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,818,215 (GRCm39) |
C159S |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,452,573 (GRCm39) |
N125S |
probably benign |
Het |
| Shprh |
G |
A |
10: 11,046,041 (GRCm39) |
|
probably null |
Het |
| Smcp |
C |
T |
3: 92,491,454 (GRCm39) |
G131D |
unknown |
Het |
| St8sia6 |
A |
G |
2: 13,798,188 (GRCm39) |
L23P |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,699,276 (GRCm39) |
T335S |
probably benign |
Het |
| Stox1 |
G |
A |
10: 62,499,812 (GRCm39) |
A916V |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,785,753 (GRCm39) |
T297S |
probably benign |
Het |
| Tert |
G |
T |
13: 73,796,490 (GRCm39) |
A1074S |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,385,187 (GRCm39) |
D135E |
probably damaging |
Het |
| Tmem132a |
G |
A |
19: 10,841,371 (GRCm39) |
H318Y |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,738,249 (GRCm39) |
S4097P |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,553,874 (GRCm39) |
|
probably null |
Het |
| Usp36 |
A |
T |
11: 118,156,020 (GRCm39) |
S586T |
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,388,244 (GRCm39) |
S71G |
probably benign |
Het |
| Zfp318 |
G |
A |
17: 46,697,662 (GRCm39) |
D173N |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,939,076 (GRCm39) |
S936T |
probably damaging |
Het |
| Zic2 |
A |
G |
14: 122,713,728 (GRCm39) |
Y214C |
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 |
|
|
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'- TTGGACTTGTAAGCCCAGAC -3'
(R):5'- CCTGGTGCTAAGAACTCTACAG -3'
Sequencing Primer
(F):5'- CACAGCCTCTGGTTTTAGATCAACAG -3'
(R):5'- CTCTACAGTCCCTTAAGCAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation