Incidental Mutation 'R1268:Shf'
| ID |
244132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shf
|
| Ensembl Gene |
ENSMUSG00000033256 |
| Gene Name |
Src homology 2 domain containing F |
| Synonyms |
|
| MMRRC Submission |
039335-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1268 (G1)
|
| Quality Score |
75 |
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,108,248 (GRCm39) |
V1257A |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,775 (GRCm39) |
T267A |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,887,964 (GRCm39) |
S461P |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,055,530 (GRCm39) |
T1160A |
probably damaging |
Het |
| Col5a1 |
A |
T |
2: 27,892,501 (GRCm39) |
T1005S |
unknown |
Het |
| Crebrf |
CTTTT |
CTTT |
17: 26,958,570 (GRCm39) |
|
probably null |
Het |
| Fmo6 |
A |
T |
1: 162,748,086 (GRCm39) |
I326N |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
A |
G |
9: 107,553,076 (GRCm39) |
|
probably benign |
Het |
| Hs6st1 |
T |
A |
1: 36,108,007 (GRCm39) |
V90D |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,845,216 (GRCm39) |
T257A |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,742,363 (GRCm39) |
E66K |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mybl2 |
A |
G |
2: 162,916,636 (GRCm39) |
N429S |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,446,218 (GRCm39) |
T1837I |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,455,966 (GRCm39) |
S117* |
probably null |
Het |
| Nek1 |
C |
A |
8: 61,475,298 (GRCm39) |
A202E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,549,493 (GRCm39) |
W159* |
probably null |
Het |
| Ntn1 |
TCCTCGGC |
TC |
11: 68,103,959 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2w2 |
C |
T |
13: 21,758,498 (GRCm39) |
V43M |
probably benign |
Het |
| Or4c58 |
A |
G |
2: 89,674,498 (GRCm39) |
I273T |
probably damaging |
Het |
| Or4f57 |
G |
T |
2: 111,791,222 (GRCm39) |
N65K |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,625 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Or5p69 |
A |
T |
7: 107,967,002 (GRCm39) |
I102F |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,652 (GRCm39) |
F123L |
probably damaging |
Het |
| Plk4 |
T |
A |
3: 40,765,804 (GRCm39) |
V659D |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,466,367 (GRCm39) |
S866P |
probably damaging |
Het |
| Rnaseh2b |
A |
T |
14: 62,609,904 (GRCm39) |
K303N |
possibly damaging |
Het |
| Samd9l |
C |
T |
6: 3,376,113 (GRCm39) |
V383I |
possibly damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,705,197 (GRCm39) |
Y62* |
probably null |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Ulk1 |
A |
G |
5: 110,938,143 (GRCm39) |
S610P |
probably damaging |
Het |
| Ulk4 |
C |
A |
9: 121,086,140 (GRCm39) |
|
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,356 (GRCm39) |
N389S |
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 |
|
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 |
2014-10-21 |
Incidental Mutation