Incidental Mutation 'R1181:Shf'
ID |
101538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shf
|
Ensembl Gene |
ENSMUSG00000033256 |
Gene Name |
Src homology 2 domain containing F |
Synonyms |
|
MMRRC Submission |
039253-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1181 (G1)
|
Quality Score |
111 |
Status
|
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: 99.3%
- 3x: 97.9%
- 10x: 93.9%
- 20x: 84.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
T |
A |
19: 4,922,638 (GRCm39) |
Q64L |
probably benign |
Het |
Ankrd12 |
T |
C |
17: 66,349,569 (GRCm39) |
N88S |
probably benign |
Het |
Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
Bnipl |
C |
A |
3: 95,152,960 (GRCm39) |
|
probably null |
Het |
Bod1 |
T |
C |
11: 31,616,943 (GRCm39) |
|
probably benign |
Het |
Cbarp |
G |
T |
10: 79,971,328 (GRCm39) |
H166N |
probably damaging |
Het |
Cdr2l |
T |
A |
11: 115,285,005 (GRCm39) |
I447N |
probably damaging |
Het |
Cped1 |
T |
G |
6: 22,215,561 (GRCm39) |
I698M |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,642,662 (GRCm39) |
H404Y |
possibly damaging |
Het |
Ehbp1 |
C |
T |
11: 22,012,831 (GRCm39) |
V902I |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
Fastk |
C |
T |
5: 24,646,729 (GRCm39) |
|
probably null |
Het |
Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
Hgf |
G |
C |
5: 16,823,923 (GRCm39) |
G707R |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,320,228 (GRCm39) |
M594T |
probably damaging |
Het |
Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
Mettl14 |
C |
T |
3: 123,167,651 (GRCm39) |
G236S |
probably damaging |
Het |
Nob1 |
G |
A |
8: 108,148,122 (GRCm39) |
P107S |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Or2a56 |
T |
A |
6: 42,932,492 (GRCm39) |
L20Q |
probably benign |
Het |
Or52e7 |
T |
A |
7: 104,685,021 (GRCm39) |
N205K |
probably damaging |
Het |
Or52n4b |
C |
A |
7: 108,144,509 (GRCm39) |
T257N |
probably benign |
Het |
Or5b109 |
C |
A |
19: 13,212,195 (GRCm39) |
H194N |
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Or6c65 |
A |
G |
10: 129,604,033 (GRCm39) |
I223V |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,183,366 (GRCm39) |
|
probably benign |
Het |
Pds5a |
A |
T |
5: 65,784,545 (GRCm39) |
|
probably null |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
Serinc3 |
T |
C |
2: 163,467,446 (GRCm39) |
K445R |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,907,571 (GRCm39) |
E324G |
probably benign |
Het |
Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
Tas2r121 |
A |
T |
6: 132,677,132 (GRCm39) |
I280N |
probably damaging |
Het |
Tbc1d7 |
T |
C |
13: 43,306,615 (GRCm39) |
I242M |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Tulp3 |
A |
T |
6: 128,302,915 (GRCm39) |
H301Q |
possibly damaging |
Het |
Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
Zfp454 |
T |
C |
11: 50,764,413 (GRCm39) |
K229E |
probably 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 |
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 |
R1257: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 |
2014-01-15 |