Incidental Mutation 'IGL02726:Shf'
ID |
305231 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Shf
|
Ensembl Gene |
ENSMUSG00000033256 |
Gene Name |
Src homology 2 domain containing F |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02726
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
122179373-122199643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 122189969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 96
(D96E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048635]
[ENSMUST00000110530]
[ENSMUST00000110531]
[ENSMUST00000110532]
[ENSMUST00000121237]
[ENSMUST00000125826]
[ENSMUST00000139819]
|
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: ENSMUST00000110530
|
SMART Domains |
Protein: ENSMUSP00000106159 Gene: ENSMUSG00000033256
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
61 |
N/A |
INTRINSIC |
SH2
|
130 |
214 |
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: D96E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106161 Gene: ENSMUSG00000033256 AA Change: D96E
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: ENSMUST00000121237
|
SMART Domains |
Protein: ENSMUSP00000113923 Gene: ENSMUSG00000033256
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125826
AA Change: D206E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117099 Gene: ENSMUSG00000033256 AA Change: D206E
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 damaging
Transcript: ENSMUST00000139819
AA Change: D33E
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119980 Gene: ENSMUSG00000033256 AA Change: D33E
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
SH2
|
218 |
302 |
9.16e-27 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151130
AA Change: D197E
|
SMART Domains |
Protein: ENSMUSP00000114524 Gene: ENSMUSG00000033256 AA Change: D197E
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143484
|
SMART Domains |
Protein: ENSMUSP00000120732 Gene: ENSMUSG00000033256
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
SH2
|
71 |
155 |
3.19e-26 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc1 |
A |
T |
2: 128,501,705 (GRCm39) |
M779K |
probably benign |
Het |
Art1 |
G |
A |
7: 101,759,955 (GRCm39) |
V85M |
probably damaging |
Het |
Atad2b |
G |
T |
12: 5,024,003 (GRCm39) |
E43* |
probably null |
Het |
Clec4a4 |
A |
T |
6: 122,967,338 (GRCm39) |
I5F |
probably damaging |
Het |
Cr1l |
A |
T |
1: 194,812,188 (GRCm39) |
I45N |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,676,140 (GRCm39) |
|
probably benign |
Het |
Dnajb3 |
A |
T |
1: 88,133,372 (GRCm39) |
V10E |
probably damaging |
Het |
Dnajc22 |
A |
T |
15: 98,998,881 (GRCm39) |
H22L |
probably damaging |
Het |
Dnal4 |
A |
G |
15: 79,647,745 (GRCm39) |
V40A |
probably damaging |
Het |
Dsg1b |
G |
A |
18: 20,532,542 (GRCm39) |
V529I |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,767,878 (GRCm39) |
|
probably null |
Het |
Fam131c |
T |
A |
4: 141,110,113 (GRCm39) |
D170E |
probably benign |
Het |
Got1 |
G |
A |
19: 43,488,851 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,349,270 (GRCm39) |
V2043E |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,532,445 (GRCm39) |
Y3147* |
probably null |
Het |
Ifi44 |
T |
C |
3: 151,455,233 (GRCm39) |
|
probably benign |
Het |
Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
Ino80 |
A |
T |
2: 119,272,964 (GRCm39) |
I504N |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,277,419 (GRCm39) |
I655T |
probably benign |
Het |
Kcnk4 |
A |
G |
19: 6,904,457 (GRCm39) |
|
probably null |
Het |
Mrgprb2 |
T |
A |
7: 48,202,618 (GRCm39) |
R36W |
probably damaging |
Het |
Mslnl |
T |
C |
17: 25,963,077 (GRCm39) |
|
probably null |
Het |
Or10ak14 |
T |
A |
4: 118,610,961 (GRCm39) |
Y260F |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,691 (GRCm39) |
S87G |
probably benign |
Het |
Or2ag1b |
A |
C |
7: 106,288,577 (GRCm39) |
Y120* |
probably null |
Het |
Or8k16 |
G |
T |
2: 85,520,554 (GRCm39) |
L260F |
possibly damaging |
Het |
Pcnx4 |
G |
T |
12: 72,620,986 (GRCm39) |
M935I |
probably benign |
Het |
Pdgfra |
C |
T |
5: 75,355,618 (GRCm39) |
Q1043* |
probably null |
Het |
Pf4 |
T |
C |
5: 90,920,523 (GRCm39) |
V28A |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,213,894 (GRCm39) |
L1689P |
probably damaging |
Het |
Ppa2 |
A |
G |
3: 133,076,222 (GRCm39) |
S284G |
possibly damaging |
Het |
Pramel22 |
G |
T |
4: 143,381,955 (GRCm39) |
P247H |
probably damaging |
Het |
Psd2 |
T |
C |
18: 36,120,355 (GRCm39) |
|
probably null |
Het |
Rbm25 |
G |
T |
12: 83,719,626 (GRCm39) |
G549W |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,753,206 (GRCm39) |
D1705G |
probably damaging |
Het |
Slc1a1 |
G |
A |
19: 28,889,169 (GRCm39) |
V481M |
probably benign |
Het |
Slc4a9 |
T |
C |
18: 36,672,670 (GRCm39) |
V807A |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,062,356 (GRCm39) |
I4226N |
probably damaging |
Het |
Tex56 |
A |
G |
13: 35,136,943 (GRCm39) |
|
probably benign |
Het |
Tkfc |
A |
T |
19: 10,573,576 (GRCm39) |
V254E |
possibly damaging |
Het |
Ubr2 |
A |
C |
17: 47,283,847 (GRCm39) |
Y601D |
probably damaging |
Het |
Ubr5 |
A |
C |
15: 38,000,806 (GRCm39) |
|
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,854 (GRCm39) |
I50K |
possibly damaging |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
|
Other mutations in Shf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |