Incidental Mutation 'R7564:Sh3bp1'
| ID |
585331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp1
|
| Ensembl Gene |
ENSMUSG00000022436 |
| Gene Name |
SH3-domain binding protein 1 |
| Synonyms |
3BP-1 |
| MMRRC Submission |
045656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7564 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78795760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 630
(P630S)
|
| 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: P630S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: P630S
| 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
AA Change: T563I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: T563I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
G |
A |
9: 104,000,288 (GRCm39) |
E681K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,688,501 (GRCm39) |
M411K |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Bag4 |
G |
A |
8: 26,267,507 (GRCm39) |
R108* |
probably null |
Het |
| Cpa1 |
C |
T |
6: 30,641,767 (GRCm39) |
T197M |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,218 (GRCm39) |
V50A |
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,365,325 (GRCm39) |
D665G |
probably damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,588,297 (GRCm39) |
V499I |
probably damaging |
Het |
| Depdc5 |
T |
G |
5: 33,058,854 (GRCm39) |
I274M |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,570,817 (GRCm39) |
Q2219L |
probably benign |
Het |
| Ect2 |
A |
T |
3: 27,170,272 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,617,159 (GRCm39) |
S289R |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,437,140 (GRCm39) |
L1037P |
unknown |
Het |
| Fsip2 |
G |
A |
2: 82,819,361 (GRCm39) |
M5031I |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,274,151 (GRCm39) |
M1435V |
probably benign |
Het |
| Gm8005 |
G |
T |
14: 42,261,499 (GRCm39) |
Q44K |
|
Het |
| Hdgfl2 |
T |
A |
17: 56,406,860 (GRCm39) |
D591E |
unknown |
Het |
| Hk3 |
C |
A |
13: 55,159,209 (GRCm39) |
C449F |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,531,586 (GRCm39) |
M3228V |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,743,337 (GRCm39) |
R773C |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,500,612 (GRCm39) |
V659A |
probably benign |
Het |
| Lhb |
C |
T |
7: 45,071,101 (GRCm39) |
R109C |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,854 (GRCm39) |
I267T |
probably benign |
Het |
| Lypla1 |
T |
A |
1: 4,878,590 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
T |
C |
8: 126,654,447 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
A |
G |
2: 119,844,232 (GRCm39) |
T319A |
probably benign |
Het |
| Mms19 |
T |
C |
19: 41,935,455 (GRCm39) |
T854A |
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,495 (GRCm39) |
T173A |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,678,322 (GRCm39) |
R668H |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,767,582 (GRCm39) |
E297K |
possibly damaging |
Het |
| Nrg2 |
A |
T |
18: 36,157,449 (GRCm39) |
L412Q |
probably damaging |
Het |
| Nrtn |
T |
C |
17: 57,058,473 (GRCm39) |
D176G |
probably damaging |
Het |
| Nrxn1 |
G |
T |
17: 90,670,334 (GRCm39) |
Q1134K |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or51t4 |
C |
T |
7: 102,598,473 (GRCm39) |
P267L |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,139,781 (GRCm39) |
V360A |
unknown |
Het |
| Pigr |
T |
A |
1: 130,769,403 (GRCm39) |
N71K |
possibly damaging |
Het |
| Ppox |
T |
C |
1: 171,107,765 (GRCm39) |
N96S |
probably benign |
Het |
| Pramel29 |
C |
A |
4: 143,939,525 (GRCm39) |
C4F |
probably damaging |
Het |
| Qrfprl |
G |
T |
6: 65,429,891 (GRCm39) |
E196* |
probably null |
Het |
| Rasa1 |
T |
C |
13: 85,376,827 (GRCm39) |
T603A |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,603,770 (GRCm39) |
L97P |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,887,415 (GRCm39) |
I147V |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,044,937 (GRCm39) |
T581A |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,498 (GRCm39) |
I380T |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,638,108 (GRCm39) |
V178D |
probably damaging |
Het |
| Smad7 |
C |
A |
18: 75,526,906 (GRCm39) |
L251I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,426,434 (GRCm39) |
S151N |
probably benign |
Het |
| St3gal4 |
C |
T |
9: 34,963,549 (GRCm39) |
R253Q |
probably benign |
Het |
| Trappc14 |
C |
A |
5: 138,261,104 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
T |
C |
17: 46,787,857 (GRCm39) |
I242V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,798,864 (GRCm39) |
A470V |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,091,258 (GRCm39) |
V28A |
probably damaging |
Het |
| Vmn1r149 |
A |
G |
7: 22,137,530 (GRCm39) |
V42A |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,752,740 (GRCm39) |
C514* |
probably null |
Het |
| Zfp236 |
A |
T |
18: 82,662,366 (GRCm39) |
C570* |
probably null |
Het |
| Zfp277 |
T |
A |
12: 40,379,594 (GRCm39) |
R313S |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,967 (GRCm39) |
C186S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,248,954 (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 |
|
R6320:Sh3bp1
|
UTSW |
15 |
78,795,715 (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 |
|
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'- TTGTTGCCTTCACAGCCAAG -3'
(R):5'- CCCCAAGCTCAAAGTGGAAG -3'
Sequencing Primer
(F):5'- CAGCCCGGCCTACCATG -3'
(R):5'- ACTGGACAAGGGCCATCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation