Incidental Mutation 'R1327:Zftraf1'
ID |
157256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zftraf1
|
Ensembl Gene |
ENSMUSG00000053929 |
Gene Name |
zinc finger TRAF type containing 1 |
Synonyms |
Cyhr1, Chrp, 1110031M01Rik |
MMRRC Submission |
039393-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R1327 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76527586-76541120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76533376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 121
(T121S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081291]
[ENSMUST00000176274]
[ENSMUST00000229524]
|
AlphaFold |
Q9QXA1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081291
AA Change: T33S
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000080043 Gene: ENSMUSG00000053929 AA Change: T33S
Domain | Start | End | E-Value | Type |
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176274
AA Change: T121S
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000134739 Gene: ENSMUSG00000053929 AA Change: T121S
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
48 |
N/A |
INTRINSIC |
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
RING
|
106 |
150 |
1.9e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229524
AA Change: T121S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229541
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229552
|
Meta Mutation Damage Score |
0.0885 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zftraf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Zftraf1
|
APN |
15 |
76,530,738 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03163:Zftraf1
|
APN |
15 |
76,543,474 (GRCm39) |
missense |
probably damaging |
0.97 |
R0107:Zftraf1
|
UTSW |
15 |
76,530,547 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0445:Zftraf1
|
UTSW |
15 |
76,532,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R0759:Zftraf1
|
UTSW |
15 |
76,530,385 (GRCm39) |
makesense |
probably null |
|
R1366:Zftraf1
|
UTSW |
15 |
76,533,169 (GRCm39) |
missense |
probably damaging |
0.96 |
R1950:Zftraf1
|
UTSW |
15 |
76,543,417 (GRCm39) |
critical splice donor site |
probably null |
|
R3416:Zftraf1
|
UTSW |
15 |
76,542,915 (GRCm39) |
splice site |
probably null |
|
R5092:Zftraf1
|
UTSW |
15 |
76,530,512 (GRCm39) |
missense |
probably benign |
0.11 |
R5749:Zftraf1
|
UTSW |
15 |
76,542,844 (GRCm39) |
splice site |
probably null |
|
R5860:Zftraf1
|
UTSW |
15 |
76,540,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R5860:Zftraf1
|
UTSW |
15 |
76,532,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Zftraf1
|
UTSW |
15 |
76,543,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R6032:Zftraf1
|
UTSW |
15 |
76,543,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R6397:Zftraf1
|
UTSW |
15 |
76,532,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R6481:Zftraf1
|
UTSW |
15 |
76,542,908 (GRCm39) |
splice site |
probably null |
|
R6533:Zftraf1
|
UTSW |
15 |
76,531,930 (GRCm39) |
nonsense |
probably null |
|
R7466:Zftraf1
|
UTSW |
15 |
76,532,386 (GRCm39) |
missense |
probably benign |
0.29 |
R7484:Zftraf1
|
UTSW |
15 |
76,530,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R7629:Zftraf1
|
UTSW |
15 |
76,532,386 (GRCm39) |
missense |
probably benign |
0.29 |
R7732:Zftraf1
|
UTSW |
15 |
76,532,386 (GRCm39) |
missense |
probably benign |
0.29 |
R7763:Zftraf1
|
UTSW |
15 |
76,542,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R7861:Zftraf1
|
UTSW |
15 |
76,532,386 (GRCm39) |
missense |
probably benign |
0.29 |
R9300:Zftraf1
|
UTSW |
15 |
76,530,541 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGTGTAGTGGACCTTCCAAG -3'
(R):5'- AGCATGACATCTGAAGCAGCTCTC -3'
Sequencing Primer
(F):5'- GAAAGGTATGCTCTTACCACCTGG -3'
(R):5'- ATCTGAAGCAGCTCTCAGTGTATG -3'
|
Posted On |
2014-02-18 |