Incidental Mutation 'R8399:Def8'
ID |
647772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Def8
|
Ensembl Gene |
ENSMUSG00000001482 |
Gene Name |
differentially expressed in FDCP 8 |
Synonyms |
D8Ertd713e |
MMRRC Submission |
067762-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R8399 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 124182238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 197
(Y197*)
|
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 null
Transcript: ENSMUST00000001522
AA Change: Y209*
|
SMART Domains |
Protein: ENSMUSP00000001522 Gene: ENSMUSG00000001482 AA Change: Y209*
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 null
Transcript: ENSMUST00000065534
AA Change: Y197*
|
SMART Domains |
Protein: ENSMUSP00000070579 Gene: ENSMUSG00000001482 AA Change: Y197*
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 null
Transcript: ENSMUST00000093049
AA Change: Y197*
|
SMART Domains |
Protein: ENSMUSP00000090737 Gene: ENSMUSG00000001482 AA Change: Y197*
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 null
Transcript: ENSMUST00000108830
AA Change: Y197*
|
SMART Domains |
Protein: ENSMUSP00000104458 Gene: ENSMUSG00000001482 AA Change: Y197*
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 null
Transcript: ENSMUST00000108832
AA Change: Y221*
|
SMART Domains |
Protein: ENSMUSP00000104460 Gene: ENSMUSG00000001482 AA Change: Y221*
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 null
Transcript: ENSMUST00000128424
AA Change: Y209*
|
SMART Domains |
Protein: ENSMUSP00000115137 Gene: ENSMUSG00000001482 AA Change: Y209*
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,637,289 (GRCm39) |
V3384D |
possibly damaging |
Het |
Apba3 |
C |
A |
10: 81,104,832 (GRCm39) |
T35N |
probably benign |
Het |
Bcl6 |
T |
C |
16: 23,791,698 (GRCm39) |
M219V |
probably benign |
Het |
Bco2 |
T |
A |
9: 50,452,418 (GRCm39) |
T217S |
probably benign |
Het |
C1s1 |
C |
T |
6: 124,512,252 (GRCm39) |
V277I |
probably benign |
Het |
Ccdc162 |
T |
A |
10: 41,415,517 (GRCm39) |
R2149W |
probably damaging |
Het |
Cers6 |
T |
C |
2: 68,692,115 (GRCm39) |
F46L |
probably benign |
Het |
Chpf |
T |
C |
1: 75,452,864 (GRCm39) |
I359V |
probably benign |
Het |
Chrnb4 |
A |
C |
9: 54,951,107 (GRCm39) |
L52R |
probably benign |
Het |
Cox6a1 |
T |
C |
5: 115,483,958 (GRCm39) |
T95A |
probably damaging |
Het |
Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
Dnaaf3 |
C |
T |
7: 4,526,936 (GRCm39) |
|
probably null |
Het |
Dnm1l |
T |
A |
16: 16,139,536 (GRCm39) |
H484L |
probably damaging |
Het |
Eml1 |
G |
A |
12: 108,504,390 (GRCm39) |
S783N |
possibly damaging |
Het |
Frmd4a |
T |
C |
2: 4,577,244 (GRCm39) |
S367P |
probably damaging |
Het |
Hck |
A |
C |
2: 152,980,237 (GRCm39) |
K355N |
probably damaging |
Het |
Hexim2 |
G |
T |
11: 103,029,329 (GRCm39) |
R127L |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,178 (GRCm39) |
L1592P |
possibly damaging |
Het |
Htr1d |
G |
A |
4: 136,170,686 (GRCm39) |
G305E |
probably damaging |
Het |
Ifi207 |
G |
A |
1: 173,557,844 (GRCm39) |
S298L |
unknown |
Het |
Ighv1-11 |
A |
G |
12: 114,576,047 (GRCm39) |
V56A |
possibly damaging |
Het |
Ighv7-1 |
G |
A |
12: 113,860,532 (GRCm39) |
T12I |
unknown |
Het |
Kctd14 |
T |
C |
7: 97,106,811 (GRCm39) |
L22P |
probably damaging |
Het |
Klra17 |
T |
C |
6: 129,851,900 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
Maf |
T |
A |
8: 116,433,251 (GRCm39) |
I118F |
unknown |
Het |
Mppe1 |
T |
C |
18: 67,358,946 (GRCm39) |
T341A |
probably benign |
Het |
Mtmr2 |
T |
A |
9: 13,703,363 (GRCm39) |
V186E |
probably benign |
Het |
Nedd9 |
G |
T |
13: 41,471,950 (GRCm39) |
Y176* |
probably null |
Het |
Omd |
A |
G |
13: 49,743,345 (GRCm39) |
I132V |
possibly damaging |
Het |
Or12e10 |
A |
C |
2: 87,640,568 (GRCm39) |
M135L |
probably damaging |
Het |
Or4a39 |
T |
C |
2: 89,237,028 (GRCm39) |
T132A |
probably benign |
Het |
Pcnx4 |
T |
A |
12: 72,620,985 (GRCm39) |
M935K |
probably benign |
Het |
Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
Plcg2 |
T |
C |
8: 118,323,101 (GRCm39) |
Y719H |
probably damaging |
Het |
Plk4 |
C |
T |
3: 40,763,265 (GRCm39) |
R479* |
probably null |
Het |
Pms1 |
T |
A |
1: 53,307,091 (GRCm39) |
|
probably null |
Het |
Raph1 |
C |
T |
1: 60,528,477 (GRCm39) |
S928N |
unknown |
Het |
Rtp4 |
G |
T |
16: 23,339,164 (GRCm39) |
|
probably benign |
Het |
Skor1 |
C |
T |
9: 63,052,440 (GRCm39) |
V510I |
possibly damaging |
Het |
Smg1 |
T |
C |
7: 117,789,794 (GRCm39) |
T699A |
unknown |
Het |
Tcp11l1 |
T |
C |
2: 104,515,720 (GRCm39) |
D381G |
probably benign |
Het |
Tnik |
T |
A |
3: 28,548,159 (GRCm39) |
M56K |
unknown |
Het |
Trappc9 |
G |
A |
15: 72,924,131 (GRCm39) |
R204C |
probably damaging |
Het |
Trmt10b |
A |
T |
4: 45,305,870 (GRCm39) |
M184L |
possibly damaging |
Het |
Vmn1r224 |
T |
A |
17: 20,640,011 (GRCm39) |
I196N |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,689 (GRCm39) |
C104* |
probably null |
Het |
Vmn2r35 |
A |
C |
7: 7,819,897 (GRCm39) |
S124R |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,957,486 (GRCm39) |
E547G |
probably damaging |
Het |
Zfp68 |
A |
T |
5: 138,606,082 (GRCm39) |
D80E |
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 |
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 |
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'- TATGGACATTACAGGGAAGCC -3'
(R):5'- TTATGTAGCTGCCGTAGAGAGC -3'
Sequencing Primer
(F):5'- CATTACAGGGAAGCCAATGGTGTG -3'
(R):5'- GCCGTAGAGAGCTTTCTCACAC -3'
|
Posted On |
2020-09-02 |