Incidental Mutation 'R1388:Shf'
| ID |
162479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shf
|
| Ensembl Gene |
ENSMUSG00000033256 |
| Gene Name |
Src homology 2 domain containing F |
| Synonyms |
|
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1388 (G1)
|
| Quality Score |
119 |
|
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: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
probably benign |
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 |
|
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 |
2014-03-17 |
Incidental Mutation