Incidental Mutation 'R0117:Def8'
| ID |
60556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Def8
|
| Ensembl Gene |
ENSMUSG00000001482 |
| Gene Name |
differentially expressed in FDCP 8 |
| Synonyms |
D8Ertd713e |
| MMRRC Submission |
038403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R0117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124183234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 278
(A278T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001522]
[ENSMUST00000065534]
[ENSMUST00000093049]
[ENSMUST00000108830]
[ENSMUST00000108832]
[ENSMUST00000124741]
[ENSMUST00000127664]
[ENSMUST00000212391]
[ENSMUST00000212827]
[ENSMUST00000212883]
[ENSMUST00000132063]
[ENSMUST00000128424]
|
| AlphaFold |
Q99J78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001522
AA Change: A266T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: A266T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
77 |
133 |
8e-28 |
BLAST |
|
C1
|
148 |
198 |
4.12e-3 |
SMART |
|
DUF4206
|
243 |
447 |
4.01e-121 |
SMART |
|
C1
|
385 |
437 |
1.5e0 |
SMART |
|
RING
|
399 |
440 |
4.86e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065534
AA Change: A254T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: A254T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
121 |
7e-28 |
BLAST |
|
C1
|
136 |
186 |
4.12e-3 |
SMART |
|
DUF4206
|
231 |
435 |
4.01e-121 |
SMART |
|
C1
|
373 |
425 |
1.5e0 |
SMART |
|
RING
|
387 |
428 |
4.86e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093049
AA Change: A254T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: A254T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
121 |
9e-28 |
BLAST |
|
C1
|
136 |
186 |
4.12e-3 |
SMART |
|
DUF4206
|
231 |
429 |
6.85e-106 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108830
AA Change: A254T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: A254T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
121 |
7e-28 |
BLAST |
|
C1
|
136 |
186 |
4.12e-3 |
SMART |
|
DUF4206
|
231 |
435 |
4.01e-121 |
SMART |
|
C1
|
373 |
425 |
1.5e0 |
SMART |
|
RING
|
387 |
428 |
4.86e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108832
AA Change: A278T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: A278T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
89 |
145 |
9e-28 |
BLAST |
|
C1
|
160 |
210 |
4.12e-3 |
SMART |
|
DUF4206
|
255 |
459 |
4.01e-121 |
SMART |
|
C1
|
397 |
449 |
1.5e0 |
SMART |
|
RING
|
411 |
452 |
4.86e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124741
|
| SMART Domains |
Protein: ENSMUSP00000122532
Gene: ENSMUSG00000001482
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
97 |
4e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128424
|
| SMART Domains |
Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
77 |
133 |
4e-30 |
BLAST |
|
C1
|
148 |
198 |
4.12e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.8511 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.1%
|
| Validation Efficiency |
95% (59/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
A |
T |
17: 33,999,776 (GRCm39) |
I141K |
probably damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,194 (GRCm39) |
D102E |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,947,368 (GRCm39) |
T486A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,817 (GRCm39) |
T624A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,983,808 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
C |
18: 67,759,744 (GRCm39) |
Y323C |
possibly damaging |
Het |
| CK137956 |
T |
A |
4: 127,840,585 (GRCm39) |
T374S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,539 (GRCm39) |
F359I |
probably benign |
Het |
| Cyp4f13 |
G |
T |
17: 33,149,580 (GRCm39) |
H194Q |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,240,016 (GRCm39) |
D667E |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,106,037 (GRCm39) |
R716* |
probably null |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,670,560 (GRCm39) |
|
probably null |
Het |
| Gsta5 |
C |
T |
9: 78,211,700 (GRCm39) |
T154I |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,863,359 (GRCm39) |
|
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,882,533 (GRCm39) |
R173H |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,082,005 (GRCm39) |
N979S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,670 (GRCm39) |
Y417C |
probably damaging |
Het |
| Lmf1 |
G |
T |
17: 25,874,965 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,790,036 (GRCm39) |
R659C |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,832 (GRCm39) |
V416A |
possibly damaging |
Het |
| Mgarp |
G |
T |
3: 51,304,133 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
G |
A |
11: 101,891,399 (GRCm39) |
P580S |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Ninl |
G |
A |
2: 150,779,593 (GRCm39) |
R269W |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,595 (GRCm39) |
E2G |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,146 (GRCm39) |
I250N |
probably damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,214 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,244,561 (GRCm39) |
L1173* |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,139,979 (GRCm39) |
E314G |
probably damaging |
Het |
| Peds1 |
A |
G |
2: 167,486,678 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,623,003 (GRCm39) |
M1V |
probably null |
Het |
| Pkdrej |
T |
A |
15: 85,700,300 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
A |
4: 155,069,815 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
G |
A |
11: 70,448,214 (GRCm39) |
R887Q |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,934,286 (GRCm39) |
D838G |
possibly damaging |
Het |
| Postn |
C |
T |
3: 54,290,902 (GRCm39) |
|
probably benign |
Het |
| Prl8a8 |
T |
A |
13: 27,692,473 (GRCm39) |
I172F |
probably damaging |
Het |
| Psmc4 |
A |
T |
7: 27,742,165 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,451,897 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 78,986,484 (GRCm39) |
S1017P |
probably benign |
Het |
| Rbak |
G |
T |
5: 143,159,387 (GRCm39) |
Y555* |
probably null |
Het |
| Serpina1c |
T |
G |
12: 103,861,271 (GRCm39) |
*414C |
probably null |
Het |
| Sntb1 |
A |
G |
15: 55,769,749 (GRCm39) |
V80A |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,944,873 (GRCm39) |
V884A |
probably benign |
Het |
| Stmnd1 |
C |
A |
13: 46,438,962 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Tgm5 |
C |
T |
2: 120,905,583 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
T |
C |
2: 174,299,577 (GRCm39) |
S420P |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,770,430 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,347,464 (GRCm39) |
A3235V |
possibly damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,488,427 (GRCm39) |
S122P |
possibly damaging |
Het |
|
| Other mutations in Def8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Def8
|
APN |
8 |
124,186,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01896:Def8
|
APN |
8 |
124,186,634 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02424:Def8
|
APN |
8 |
124,186,387 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02982:Def8
|
APN |
8 |
124,183,278 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03218:Def8
|
APN |
8 |
124,183,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
defensive
|
UTSW |
8 |
124,181,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Def8
|
UTSW |
8 |
124,186,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0003:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0119:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0135:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0138:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0141:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0408:Def8
|
UTSW |
8 |
124,186,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Def8
|
UTSW |
8 |
124,181,096 (GRCm39) |
nonsense |
probably null |
|
|
R3890:Def8
|
UTSW |
8 |
124,185,083 (GRCm39) |
unclassified |
probably benign |
|
|
R3891:Def8
|
UTSW |
8 |
124,185,083 (GRCm39) |
unclassified |
probably benign |
|
|
R3892:Def8
|
UTSW |
8 |
124,185,083 (GRCm39) |
unclassified |
probably benign |
|
|
R4904:Def8
|
UTSW |
8 |
124,188,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5930:Def8
|
UTSW |
8 |
124,186,809 (GRCm39) |
unclassified |
probably benign |
|
|
R6088:Def8
|
UTSW |
8 |
124,186,787 (GRCm39) |
nonsense |
probably null |
|
|
R6577:Def8
|
UTSW |
8 |
124,183,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7446:Def8
|
UTSW |
8 |
124,181,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Def8
|
UTSW |
8 |
124,174,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Def8
|
UTSW |
8 |
124,186,798 (GRCm39) |
missense |
unknown |
|
|
R7827:Def8
|
UTSW |
8 |
124,174,060 (GRCm39) |
missense |
probably benign |
|
|
R8186:Def8
|
UTSW |
8 |
124,188,215 (GRCm39) |
nonsense |
probably null |
|
|
R8256:Def8
|
UTSW |
8 |
124,186,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Def8
|
UTSW |
8 |
124,182,238 (GRCm39) |
nonsense |
probably null |
|
|
R9026:Def8
|
UTSW |
8 |
124,186,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Def8
|
UTSW |
8 |
124,186,317 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9359:Def8
|
UTSW |
8 |
124,185,105 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1088:Def8
|
UTSW |
8 |
124,183,237 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Def8
|
UTSW |
8 |
124,186,705 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTGGGAGAACCCCTAGCACAG -3'
(R):5'- TAGCTGAGTGACCAGCTTGCAGAG -3'
Sequencing Primer
(F):5'- AGATCCATACGATGTGAGTCCTTG -3'
(R):5'- CAGCTTGCAGAGCTAGGACTG -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation