Incidental Mutation 'R8230:Shf'
ID |
637091 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shf
|
Ensembl Gene |
ENSMUSG00000033256 |
Gene Name |
Src homology 2 domain containing F |
Synonyms |
|
MMRRC Submission |
067662-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8230 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
122179373-122199643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122179968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 195
(Y195H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048635]
[ENSMUST00000099461]
[ENSMUST00000110530]
[ENSMUST00000110531]
[ENSMUST00000110532]
[ENSMUST00000121237]
[ENSMUST00000125826]
[ENSMUST00000139819]
|
AlphaFold |
Q8CG80 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048635
AA Change: Y195H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045135 Gene: ENSMUSG00000033256 AA Change: Y195H
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: ENSMUST00000099461
|
SMART Domains |
Protein: ENSMUSP00000097060 Gene: ENSMUSG00000033268
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:An_peroxidase
|
29 |
557 |
2.1e-134 |
PFAM |
transmembrane domain
|
594 |
616 |
N/A |
INTRINSIC |
EFh
|
819 |
847 |
1.82e-4 |
SMART |
EFh
|
855 |
883 |
3.45e-5 |
SMART |
transmembrane domain
|
1044 |
1066 |
N/A |
INTRINSIC |
Pfam:Ferric_reduct
|
1087 |
1236 |
5.3e-21 |
PFAM |
Pfam:FAD_binding_8
|
1272 |
1374 |
8.5e-21 |
PFAM |
Pfam:NAD_binding_6
|
1380 |
1534 |
3.5e-33 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110530
AA Change: Y189H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106159 Gene: ENSMUSG00000033256 AA Change: Y189H
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
61 |
N/A |
INTRINSIC |
SH2
|
130 |
214 |
9.16e-27 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110531
AA Change: Y195H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106160 Gene: ENSMUSG00000033256 AA Change: Y195H
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: Y253H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106161 Gene: ENSMUSG00000033256 AA Change: Y253H
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: Y403H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117099 Gene: ENSMUSG00000033256 AA Change: Y403H
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: Y277H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119980 Gene: ENSMUSG00000033256 AA Change: Y277H
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 |
|
SMART Domains |
Protein: ENSMUSP00000120732 Gene: ENSMUSG00000033256 AA Change: Y129H
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
SH2
|
71 |
155 |
3.19e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151130
|
SMART Domains |
Protein: ENSMUSP00000114524 Gene: ENSMUSG00000033256
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
G |
15: 102,246,904 (GRCm39) |
Y485H |
probably benign |
Het |
Actl7a |
T |
A |
4: 56,743,768 (GRCm39) |
H98Q |
probably damaging |
Het |
Adam15 |
G |
A |
3: 89,252,917 (GRCm39) |
T267I |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,391,835 (GRCm39) |
H1945R |
possibly damaging |
Het |
Baiap3 |
A |
G |
17: 25,465,827 (GRCm39) |
I585T |
probably benign |
Het |
Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
Ccdc127 |
T |
C |
13: 74,508,751 (GRCm39) |
F50S |
unknown |
Het |
Ccdc15 |
T |
C |
9: 37,226,555 (GRCm39) |
E473G |
probably benign |
Het |
Clasp2 |
A |
G |
9: 113,721,482 (GRCm39) |
D763G |
possibly damaging |
Het |
Dab2 |
T |
A |
15: 6,451,824 (GRCm39) |
F147I |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,735,914 (GRCm39) |
G954D |
probably damaging |
Het |
Etv1 |
T |
C |
12: 38,830,935 (GRCm39) |
M1T |
probably null |
Het |
F2r |
T |
A |
13: 95,741,247 (GRCm39) |
D96V |
possibly damaging |
Het |
Fancm |
A |
G |
12: 65,149,424 (GRCm39) |
D730G |
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,037,565 (GRCm39) |
I892V |
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,198,735 (GRCm39) |
N60S |
probably benign |
Het |
Gm12790 |
T |
C |
4: 101,825,280 (GRCm39) |
I45V |
probably benign |
Het |
Herc1 |
G |
A |
9: 66,377,598 (GRCm39) |
V3455I |
probably damaging |
Het |
Hic1 |
T |
C |
11: 75,056,411 (GRCm39) |
D826G |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,234,485 (GRCm39) |
Y300C |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,625,068 (GRCm39) |
Q68R |
probably benign |
Het |
Igdcc4 |
A |
G |
9: 65,030,020 (GRCm39) |
Y309C |
probably damaging |
Het |
Itpr3 |
T |
C |
17: 27,326,711 (GRCm39) |
|
probably null |
Het |
Kat7 |
T |
C |
11: 95,168,415 (GRCm39) |
K414E |
probably damaging |
Het |
Lmnb2 |
A |
T |
10: 80,740,982 (GRCm39) |
L260Q |
probably damaging |
Het |
Mapk1 |
T |
C |
16: 16,843,930 (GRCm39) |
I215T |
noncoding transcript |
Het |
Ntpcr |
G |
T |
8: 126,464,159 (GRCm39) |
|
probably null |
Het |
Ntrk3 |
C |
A |
7: 77,900,518 (GRCm39) |
C607F |
probably damaging |
Het |
Or10ag54 |
A |
T |
2: 87,099,545 (GRCm39) |
H119L |
probably benign |
Het |
Or56a4 |
A |
G |
7: 104,806,631 (GRCm39) |
I86T |
probably damaging |
Het |
Or5w13 |
T |
A |
2: 87,523,705 (GRCm39) |
I174F |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,191,707 (GRCm39) |
V601A |
probably damaging |
Het |
Plagl2 |
A |
G |
2: 153,074,239 (GRCm39) |
C221R |
probably damaging |
Het |
Tapbpl |
T |
A |
6: 125,203,684 (GRCm39) |
Y332F |
probably damaging |
Het |
Tbx15 |
G |
T |
3: 99,259,305 (GRCm39) |
C392F |
probably damaging |
Het |
Ubxn7 |
T |
C |
16: 32,194,094 (GRCm39) |
L222P |
probably benign |
Het |
Vsig8 |
A |
T |
1: 172,389,078 (GRCm39) |
D222V |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,346,009 (GRCm39) |
E2750G |
probably damaging |
Het |
Zfp870 |
A |
G |
17: 33,102,663 (GRCm39) |
V222A |
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 |
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 |
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'- GTCCAGGTCTATCATAGTGCC -3'
(R):5'- ACAAAGCCAGTGCCTCATG -3'
Sequencing Primer
(F):5'- GCCCTGGTCTCACATCTACAGAG -3'
(R):5'- AGCCAGTGCCTCATGCTACC -3'
|
Posted On |
2020-07-13 |