Incidental Mutation 'R6794:Shf'
ID |
531655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shf
|
Ensembl Gene |
ENSMUSG00000033256 |
Gene Name |
Src homology 2 domain containing F |
Synonyms |
|
MMRRC Submission |
044907-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6794 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
122179373-122199643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122184321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 234
(L234P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048635]
[ENSMUST00000110530]
[ENSMUST00000110531]
[ENSMUST00000110532]
[ENSMUST00000121237]
[ENSMUST00000125826]
[ENSMUST00000139819]
|
AlphaFold |
Q8CG80 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048635
AA Change: L152P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045135 Gene: ENSMUSG00000033256 AA Change: L152P
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: ENSMUST00000110530
AA Change: L146P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106159 Gene: ENSMUSG00000033256 AA Change: L146P
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: L152P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106160 Gene: ENSMUSG00000033256 AA Change: L152P
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: ENSMUST00000110532
|
SMART Domains |
Protein: ENSMUSP00000106161 Gene: ENSMUSG00000033256
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 |
silent
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: L360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117099 Gene: ENSMUSG00000033256 AA Change: L360P
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: L234P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119980 Gene: ENSMUSG00000033256 AA Change: L234P
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 |
probably damaging
Transcript: ENSMUST00000143484
AA Change: L86P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120732 Gene: ENSMUSG00000033256 AA Change: L86P
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
SH2
|
71 |
155 |
3.19e-26 |
SMART |
|
Predicted Effect |
silent
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: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
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 |
|
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'- GCCAGCAGTTGTTCAAAGG -3'
(R):5'- CTCTGGAAAACCAGGTGTGAG -3'
Sequencing Primer
(F):5'- CCAGCAGTTGTTCAAAGGGCATC -3'
(R):5'- AAACCAGGTGTGAGTGTCTG -3'
|
Posted On |
2018-08-29 |