Incidental Mutation 'R6320:Sh3bp1'
ID |
510121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp1
|
Ensembl Gene |
ENSMUSG00000022436 |
Gene Name |
SH3-domain binding protein 1 |
Synonyms |
3BP-1 |
MMRRC Submission |
044475-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R6320 (G1)
|
Quality Score |
163.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 78795715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 615
(P615S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000089378]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000151146]
|
AlphaFold |
P55194 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001226
AA Change: P615S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436 AA Change: P615S
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
7e-37 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
low complexity region
|
558 |
593 |
N/A |
INTRINSIC |
low complexity region
|
604 |
633 |
N/A |
INTRINSIC |
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061239
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
2.2e-36 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089378
|
SMART Domains |
Protein: ENSMUSP00000086796 Gene: ENSMUSG00000116165
Domain | Start | End | E-Value | Type |
Pfam:Hydrolase
|
19 |
247 |
3.6e-13 |
PFAM |
Pfam:Hydrolase_6
|
22 |
128 |
3.2e-29 |
PFAM |
Pfam:Hydrolase_like
|
206 |
286 |
2.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109698
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
2.2e-36 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132047
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
5.4e-36 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134703
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151146
|
SMART Domains |
Protein: ENSMUSP00000138780 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
143 |
9e-22 |
PFAM |
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150472
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229803
|
Meta Mutation Damage Score |
0.0710 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1b |
G |
T |
3: 20,369,943 (GRCm39) |
A221D |
probably benign |
Het |
Aldh18a1 |
A |
T |
19: 40,559,005 (GRCm39) |
D280E |
probably benign |
Het |
Apob |
G |
A |
12: 8,039,194 (GRCm39) |
D475N |
probably benign |
Het |
Bmi1 |
C |
T |
2: 18,689,186 (GRCm39) |
T290I |
probably benign |
Het |
Brd8 |
A |
T |
18: 34,746,292 (GRCm39) |
D139E |
possibly damaging |
Het |
Cacna1e |
C |
A |
1: 154,317,270 (GRCm39) |
V1467F |
possibly damaging |
Het |
Cdh15 |
A |
G |
8: 123,591,086 (GRCm39) |
D445G |
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,481,123 (GRCm39) |
L290H |
probably damaging |
Het |
Celsr1 |
G |
T |
15: 85,785,160 (GRCm39) |
Q3025K |
probably benign |
Het |
Chi3l1 |
T |
A |
1: 134,109,996 (GRCm39) |
M1K |
probably null |
Het |
Crybg2 |
T |
C |
4: 133,808,737 (GRCm39) |
S1404P |
probably damaging |
Het |
Cubn |
C |
A |
2: 13,285,006 (GRCm39) |
C3470F |
probably damaging |
Het |
Cyp20a1 |
T |
C |
1: 60,391,331 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
G |
T |
2: 170,328,704 (GRCm39) |
T408K |
probably benign |
Het |
Cyp2a12 |
A |
T |
7: 26,730,577 (GRCm39) |
I181F |
possibly damaging |
Het |
Dnm1l |
A |
T |
16: 16,149,952 (GRCm39) |
I268N |
probably damaging |
Het |
Eif2a |
A |
G |
3: 58,464,517 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,005,613 (GRCm39) |
F701S |
probably damaging |
Het |
Fbxo46 |
T |
C |
7: 18,870,466 (GRCm39) |
S362P |
possibly damaging |
Het |
Fgf22 |
A |
G |
10: 79,592,830 (GRCm39) |
|
probably benign |
Het |
Fhod1 |
A |
C |
8: 106,063,982 (GRCm39) |
|
probably benign |
Het |
Flnc |
T |
A |
6: 29,459,062 (GRCm39) |
V2448D |
probably damaging |
Het |
Gm2696 |
G |
T |
10: 77,671,972 (GRCm39) |
|
probably benign |
Het |
Gmpr |
T |
C |
13: 45,685,874 (GRCm39) |
S214P |
possibly damaging |
Het |
Krt6a |
A |
G |
15: 101,600,744 (GRCm39) |
V308A |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,684,833 (GRCm39) |
|
probably null |
Het |
Lrrc37a |
T |
A |
11: 103,394,877 (GRCm39) |
N183Y |
probably benign |
Het |
Mapk8ip3 |
C |
A |
17: 25,125,879 (GRCm39) |
G422V |
probably damaging |
Het |
Mks1 |
T |
C |
11: 87,746,325 (GRCm39) |
S97P |
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,463,024 (GRCm39) |
V7E |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,248,900 (GRCm39) |
L711P |
probably damaging |
Het |
Naga |
T |
A |
15: 82,216,404 (GRCm39) |
|
probably null |
Het |
Nherf4 |
A |
G |
9: 44,159,980 (GRCm39) |
V380A |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,524,953 (GRCm39) |
T176S |
possibly damaging |
Het |
Nqo1 |
T |
C |
8: 108,115,582 (GRCm39) |
N232D |
probably benign |
Het |
Or1j21 |
C |
G |
2: 36,683,585 (GRCm39) |
N112K |
possibly damaging |
Het |
Or2b6 |
T |
A |
13: 21,823,418 (GRCm39) |
I92L |
probably damaging |
Het |
P2ry6 |
A |
G |
7: 100,587,603 (GRCm39) |
F252S |
probably damaging |
Het |
P3h3 |
G |
A |
6: 124,831,835 (GRCm39) |
R317W |
probably benign |
Het |
Pakap |
T |
A |
4: 57,710,173 (GRCm39) |
C373S |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,602,327 (GRCm39) |
D39E |
probably benign |
Het |
Psg16 |
G |
A |
7: 16,822,112 (GRCm39) |
G23D |
probably damaging |
Het |
Ptgr2 |
T |
A |
12: 84,349,111 (GRCm39) |
I150K |
probably benign |
Het |
Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
Sart3 |
A |
T |
5: 113,889,301 (GRCm39) |
Y508N |
probably benign |
Het |
Ska3 |
A |
T |
14: 58,054,148 (GRCm39) |
N267K |
probably benign |
Het |
Slc26a7 |
A |
G |
4: 14,524,498 (GRCm39) |
I462T |
probably benign |
Het |
Slu7 |
C |
T |
11: 43,332,316 (GRCm39) |
A244V |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,548,671 (GRCm39) |
P319L |
probably damaging |
Het |
Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
Strc |
T |
A |
2: 121,205,439 (GRCm39) |
D25V |
probably benign |
Het |
Syne2 |
T |
G |
12: 76,108,424 (GRCm39) |
V936G |
probably damaging |
Het |
Tbc1d7 |
C |
T |
13: 43,306,409 (GRCm39) |
|
probably benign |
Het |
Terb1 |
C |
A |
8: 105,173,831 (GRCm39) |
D751Y |
probably damaging |
Het |
Trpc1 |
A |
G |
9: 95,603,303 (GRCm39) |
Y410H |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,089,043 (GRCm39) |
N333D |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,402,520 (GRCm39) |
S2438P |
probably damaging |
Het |
Vps35l |
T |
C |
7: 118,353,072 (GRCm39) |
V189A |
probably benign |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
Zfp7 |
G |
A |
15: 76,774,810 (GRCm39) |
G284D |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,286,776 (GRCm39) |
S2271P |
probably damaging |
Het |
Zscan18 |
G |
A |
7: 12,509,147 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Sh3bp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Sh3bp1
|
APN |
15 |
78,789,314 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01879:Sh3bp1
|
APN |
15 |
78,792,192 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02112:Sh3bp1
|
APN |
15 |
78,790,084 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02216:Sh3bp1
|
APN |
15 |
78,789,364 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02385:Sh3bp1
|
APN |
15 |
78,790,088 (GRCm39) |
splice site |
probably benign |
|
IGL02417:Sh3bp1
|
APN |
15 |
78,785,699 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02551:Sh3bp1
|
APN |
15 |
78,788,538 (GRCm39) |
missense |
probably benign |
0.01 |
PIT1430001:Sh3bp1
|
UTSW |
15 |
78,798,224 (GRCm39) |
missense |
probably benign |
|
PIT4585001:Sh3bp1
|
UTSW |
15 |
78,794,276 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0255:Sh3bp1
|
UTSW |
15 |
78,788,534 (GRCm39) |
nonsense |
probably null |
|
R0318:Sh3bp1
|
UTSW |
15 |
78,795,907 (GRCm39) |
missense |
probably damaging |
0.97 |
R0544:Sh3bp1
|
UTSW |
15 |
78,789,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Sh3bp1
|
UTSW |
15 |
78,791,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R1424:Sh3bp1
|
UTSW |
15 |
78,787,899 (GRCm39) |
critical splice donor site |
probably null |
|
R1465:Sh3bp1
|
UTSW |
15 |
78,791,545 (GRCm39) |
splice site |
probably benign |
|
R1813:Sh3bp1
|
UTSW |
15 |
78,787,880 (GRCm39) |
missense |
probably damaging |
0.96 |
R1835:Sh3bp1
|
UTSW |
15 |
78,789,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Sh3bp1
|
UTSW |
15 |
78,802,519 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2415:Sh3bp1
|
UTSW |
15 |
78,785,361 (GRCm39) |
start gained |
probably benign |
|
R2509:Sh3bp1
|
UTSW |
15 |
78,795,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Sh3bp1
|
UTSW |
15 |
78,795,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R3054:Sh3bp1
|
UTSW |
15 |
78,795,622 (GRCm39) |
missense |
probably benign |
0.01 |
R3827:Sh3bp1
|
UTSW |
15 |
78,788,697 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3855:Sh3bp1
|
UTSW |
15 |
78,785,361 (GRCm39) |
start gained |
probably benign |
|
R4767:Sh3bp1
|
UTSW |
15 |
78,788,697 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4787:Sh3bp1
|
UTSW |
15 |
78,792,195 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4852:Sh3bp1
|
UTSW |
15 |
78,788,538 (GRCm39) |
missense |
probably benign |
0.01 |
R4872:Sh3bp1
|
UTSW |
15 |
78,792,237 (GRCm39) |
missense |
probably benign |
0.31 |
R5194:Sh3bp1
|
UTSW |
15 |
78,787,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6322:Sh3bp1
|
UTSW |
15 |
78,795,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6569:Sh3bp1
|
UTSW |
15 |
78,795,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6678:Sh3bp1
|
UTSW |
15 |
78,792,714 (GRCm39) |
critical splice donor site |
probably null |
|
R6905:Sh3bp1
|
UTSW |
15 |
78,789,230 (GRCm39) |
missense |
probably benign |
0.00 |
R7564:Sh3bp1
|
UTSW |
15 |
78,795,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Sh3bp1
|
UTSW |
15 |
78,794,209 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7916:Sh3bp1
|
UTSW |
15 |
78,791,421 (GRCm39) |
missense |
probably benign |
0.01 |
R8048:Sh3bp1
|
UTSW |
15 |
78,794,272 (GRCm39) |
missense |
probably benign |
0.26 |
R8887:Sh3bp1
|
UTSW |
15 |
78,788,540 (GRCm39) |
critical splice donor site |
probably null |
|
R9043:Sh3bp1
|
UTSW |
15 |
78,791,449 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9057:Sh3bp1
|
UTSW |
15 |
78,794,209 (GRCm39) |
missense |
probably benign |
0.00 |
R9548:Sh3bp1
|
UTSW |
15 |
78,788,673 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9666:Sh3bp1
|
UTSW |
15 |
78,792,622 (GRCm39) |
missense |
probably benign |
0.10 |
Z1177:Sh3bp1
|
UTSW |
15 |
78,786,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCATGTGCACAGACACGC -3'
(R):5'- TCTCTGAAATGAGGCCCCTG -3'
Sequencing Primer
(F):5'- GTTGCCTTCACAGCCAAGC -3'
(R):5'- TGTAGCTACTCCCTGGTC -3'
|
Posted On |
2018-04-02 |