Incidental Mutation 'R1257:Shf'
ID |
151484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shf
|
Ensembl Gene |
ENSMUSG00000033256 |
Gene Name |
Src homology 2 domain containing F |
Synonyms |
|
MMRRC Submission |
039324-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1257 (G1)
|
Quality Score |
89 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
122179373-122199643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 122199163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 51
(P51S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048635]
[ENSMUST00000110531]
[ENSMUST00000110532]
[ENSMUST00000125826]
|
AlphaFold |
Q8CG80 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048635
|
SMART Domains |
Protein: ENSMUSP00000045135 Gene: ENSMUSG00000033256
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
SH2
|
136 |
220 |
9.16e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110531
|
SMART Domains |
Protein: ENSMUSP00000106160 Gene: ENSMUSG00000033256
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
SH2
|
136 |
220 |
9.16e-27 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110532
AA Change: P51S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106161 Gene: ENSMUSG00000033256 AA Change: P51S
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
38 |
N/A |
INTRINSIC |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
low complexity region
|
77 |
87 |
N/A |
INTRINSIC |
low complexity region
|
146 |
165 |
N/A |
INTRINSIC |
Blast:SH2
|
225 |
278 |
2e-22 |
BLAST |
SCOP:d1ayaa_
|
237 |
291 |
1e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125826
AA Change: P161S
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117099 Gene: ENSMUSG00000033256 AA Change: P161S
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
56 |
N/A |
INTRINSIC |
low complexity region
|
76 |
105 |
N/A |
INTRINSIC |
low complexity region
|
129 |
148 |
N/A |
INTRINSIC |
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
low complexity region
|
187 |
197 |
N/A |
INTRINSIC |
low complexity region
|
256 |
275 |
N/A |
INTRINSIC |
SH2
|
344 |
428 |
9.16e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151130
AA Change: P152S
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114524 Gene: ENSMUSG00000033256 AA Change: P152S
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
48 |
N/A |
INTRINSIC |
low complexity region
|
68 |
97 |
N/A |
INTRINSIC |
low complexity region
|
121 |
140 |
N/A |
INTRINSIC |
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
low complexity region
|
248 |
267 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1519 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
A |
T |
2: 127,886,286 (GRCm39) |
T174S |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,710,665 (GRCm39) |
R408* |
probably null |
Het |
Ceacam15 |
A |
G |
7: 16,405,949 (GRCm39) |
S201P |
possibly damaging |
Het |
Ceacam20 |
A |
G |
7: 19,708,117 (GRCm39) |
I241V |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,234,545 (GRCm39) |
L237* |
probably null |
Het |
Col4a3 |
T |
A |
1: 82,694,086 (GRCm39) |
C133S |
probably damaging |
Het |
Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,343,360 (GRCm39) |
V1568D |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,900,581 (GRCm39) |
Q1323* |
probably null |
Het |
Grhpr |
A |
G |
4: 44,989,045 (GRCm39) |
N287S |
probably damaging |
Het |
H2bl1 |
A |
T |
13: 99,121,023 (GRCm39) |
M1K |
probably null |
Het |
Hectd4 |
G |
A |
5: 121,456,687 (GRCm39) |
W684* |
probably null |
Het |
Kifc3 |
A |
G |
8: 95,832,400 (GRCm39) |
V474A |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,425,467 (GRCm39) |
V1462A |
unknown |
Het |
Mdn1 |
A |
T |
4: 32,667,089 (GRCm39) |
|
probably null |
Het |
Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,658,375 (GRCm39) |
Y707H |
probably benign |
Het |
Nol4 |
A |
T |
18: 22,903,738 (GRCm39) |
N339K |
probably damaging |
Het |
Or6c209 |
A |
T |
10: 129,483,413 (GRCm39) |
K139* |
probably null |
Het |
Rbm34 |
C |
T |
8: 127,697,643 (GRCm39) |
G23S |
possibly damaging |
Het |
Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
Snap25 |
A |
T |
2: 136,600,268 (GRCm39) |
E37V |
probably damaging |
Het |
Taf1a |
A |
G |
1: 183,179,175 (GRCm39) |
T118A |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,625,049 (GRCm39) |
T1634A |
probably benign |
Het |
Thrb |
T |
A |
14: 18,008,642 (GRCm38) |
I122K |
probably damaging |
Het |
Xkr4 |
T |
G |
1: 3,287,036 (GRCm39) |
I385L |
probably benign |
Het |
Zeb1 |
G |
T |
18: 5,772,699 (GRCm39) |
R996L |
possibly damaging |
Het |
|
Other mutations in Shf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02726:Shf
|
APN |
2 |
122,189,969 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4589:Shf
|
UTSW |
2 |
122,184,658 (GRCm39) |
small insertion |
probably benign |
|
R0624:Shf
|
UTSW |
2 |
122,199,116 (GRCm39) |
splice site |
probably benign |
|
R0993:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1180:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1181:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1193:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1194:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1195:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1195:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1258:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1260:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1267:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1268:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1269:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1270:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1271:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1273:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1388:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1448:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1494:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1615:Shf
|
UTSW |
2 |
122,179,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R1697:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1756:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1820:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R1950:Shf
|
UTSW |
2 |
122,199,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R3732:Shf
|
UTSW |
2 |
122,175,688 (GRCm39) |
unclassified |
probably benign |
|
R6794:Shf
|
UTSW |
2 |
122,184,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:Shf
|
UTSW |
2 |
122,190,063 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8230:Shf
|
UTSW |
2 |
122,179,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Shf
|
UTSW |
2 |
122,187,654 (GRCm39) |
missense |
probably benign |
0.01 |
R8997:Shf
|
UTSW |
2 |
122,187,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTAACAGGAAACAGGGCAGAGTT -3'
(R):5'- CAGCGGTGGAGTCGCAAAGT -3'
Sequencing Primer
(F):5'- GGTTAAAATTTGAGCCCCCG -3'
(R):5'- GAGCACCTGGGCTTTCG -3'
|
Posted On |
2014-01-29 |