Incidental Mutation 'R7446:Def8'
| ID |
577299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Def8
|
| Ensembl Gene |
ENSMUSG00000001482 |
| Gene Name |
differentially expressed in FDCP 8 |
| Synonyms |
D8Ertd713e |
| MMRRC Submission |
045522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124181061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 153
(C153R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001522]
[ENSMUST00000065534]
[ENSMUST00000093049]
[ENSMUST00000108830]
[ENSMUST00000108832]
[ENSMUST00000124741]
[ENSMUST00000127664]
[ENSMUST00000128424]
[ENSMUST00000132063]
[ENSMUST00000212391]
[ENSMUST00000212827]
[ENSMUST00000212883]
|
| AlphaFold |
Q99J78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001522
AA Change: C165R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: C165R
| 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 |
probably damaging
Transcript: ENSMUST00000065534
AA Change: C153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: C153R
| 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: ENSMUST00000093049
AA Change: C153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: C153R
| 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 |
probably damaging
Transcript: ENSMUST00000108830
AA Change: C153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: C153R
| 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: C177R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: C177R
| 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 damaging
Transcript: ENSMUST00000128424
AA Change: C165R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482
AA Change: C165R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
77 |
133 |
4e-30 |
BLAST |
|
C1
|
148 |
198 |
4.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212883
|
| Meta Mutation Damage Score |
0.9701 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,441 (GRCm39) |
D1446G |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,738,412 (GRCm39) |
Y635C |
probably damaging |
Het |
| Akr1cl |
G |
A |
1: 65,055,837 (GRCm39) |
R222W |
probably damaging |
Het |
| C2 |
G |
A |
17: 35,094,986 (GRCm39) |
R250C |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,854 (GRCm39) |
Y254C |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,791,874 (GRCm39) |
T2576A |
possibly damaging |
Het |
| Cfap61 |
C |
T |
2: 145,995,758 (GRCm39) |
R1108C |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,188 (GRCm39) |
S107P |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,261,564 (GRCm39) |
D2460G |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,950 (GRCm39) |
S407P |
probably benign |
Het |
| Crisp4 |
T |
C |
1: 18,192,962 (GRCm39) |
T252A |
probably damaging |
Het |
| Ctbs |
A |
G |
3: 146,164,573 (GRCm39) |
Y242C |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,186,874 (GRCm39) |
T537A |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,503,650 (GRCm39) |
I275T |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,944,561 (GRCm39) |
V248A |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,706,991 (GRCm39) |
V505D |
possibly damaging |
Het |
| Dpysl5 |
A |
C |
5: 30,936,231 (GRCm39) |
D207A |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,720 (GRCm39) |
S3307R |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,556 (GRCm39) |
C72S |
probably damaging |
Het |
| Fastkd3 |
A |
T |
13: 68,740,079 (GRCm39) |
H47L |
unknown |
Het |
| Gm5591 |
C |
T |
7: 38,218,933 (GRCm39) |
E647K |
probably benign |
Het |
| Gng12 |
TGTCCAGCAAG |
TG |
6: 66,992,736 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
T |
C |
11: 59,076,850 (GRCm39) |
T78A |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,009,347 (GRCm39) |
T82A |
probably damaging |
Het |
| Htra4 |
A |
G |
8: 25,527,181 (GRCm39) |
S205P |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,710,390 (GRCm39) |
D271G |
probably damaging |
Het |
| Krt16 |
CAGTATCTG |
C |
11: 100,137,610 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Lrp2 |
C |
A |
2: 69,262,557 (GRCm39) |
G4415W |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,290,018 (GRCm39) |
R3607H |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,721,109 (GRCm39) |
K646E |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,723,266 (GRCm39) |
L457P |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,455 (GRCm39) |
S802T |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,252 (GRCm39) |
G161E |
possibly damaging |
Het |
| Mroh1 |
G |
A |
15: 76,336,472 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,661,201 (GRCm39) |
K51R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,803,065 (GRCm39) |
F872S |
possibly damaging |
Het |
| Nbas |
A |
T |
12: 13,443,499 (GRCm39) |
T1185S |
probably benign |
Het |
| Oas1d |
A |
T |
5: 121,058,054 (GRCm39) |
I333L |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,019 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,061 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry12 |
A |
G |
3: 59,124,632 (GRCm39) |
*348Q |
probably null |
Het |
| Pik3cb |
A |
T |
9: 98,928,711 (GRCm39) |
V848E |
probably damaging |
Het |
| Plcz1 |
A |
C |
6: 139,959,312 (GRCm39) |
S282A |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,679,189 (GRCm39) |
D130G |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,243,784 (GRCm39) |
I644V |
probably benign |
Het |
| Ralgds |
T |
A |
2: 28,435,901 (GRCm39) |
S509T |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,767 (GRCm39) |
D255G |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,658 (GRCm39) |
D133G |
unknown |
Het |
| Sdk1 |
G |
A |
5: 142,130,731 (GRCm39) |
S1630N |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,467,573 (GRCm39) |
T279I |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,422,902 (GRCm39) |
L207H |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,654,965 (GRCm39) |
S167T |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 57,583,898 (GRCm39) |
I339T |
unknown |
Het |
| Srsf6 |
T |
A |
2: 162,776,636 (GRCm39) |
S327T |
unknown |
Het |
| Syne1 |
T |
A |
10: 5,172,266 (GRCm39) |
E5058D |
probably benign |
Het |
| Tcf19 |
A |
G |
17: 35,825,428 (GRCm39) |
V243A |
probably benign |
Het |
| Tspan15 |
T |
C |
10: 62,029,734 (GRCm39) |
D122G |
probably benign |
Het |
| Ttc17 |
C |
T |
2: 94,205,495 (GRCm39) |
V284M |
probably damaging |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,082 (GRCm39) |
C360* |
probably null |
Het |
| Vmn1r181 |
A |
C |
7: 23,684,356 (GRCm39) |
S274R |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,433,132 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
C |
T |
12: 40,378,729 (GRCm39) |
R376H |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,201 (GRCm39) |
E536G |
probably benign |
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 |
|
R0117: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 |
|
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'- AAGTGAGCCTCAAAGTCTCTGTG -3'
(R):5'- CCGGTAAAACAGGTGTGGTC -3'
Sequencing Primer
(F):5'- TCTCTGTGACAGGCAGGTC -3'
(R):5'- GTGTGGTCACCTCTGCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation