Incidental Mutation 'R6397:Zftraf1'
| ID |
516043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zftraf1
|
| Ensembl Gene |
ENSMUSG00000053929 |
| Gene Name |
zinc finger TRAF type containing 1 |
| Synonyms |
Cyhr1, Chrp, 1110031M01Rik |
| MMRRC Submission |
044545-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R6397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76527586-76541120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76532391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 239
(I239N)
|
| 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: I151N
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: I151N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
|
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176274
AA Change: I239N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: I239N
| 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: I239N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229552
|
| Meta Mutation Damage Score |
0.2000 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
94% (29/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Cdh1 |
T |
C |
8: 107,330,922 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dipk1a |
T |
A |
5: 108,059,504 (GRCm39) |
K105* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,705,308 (GRCm39) |
V1137A |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
| Ifi203 |
C |
A |
1: 173,754,770 (GRCm39) |
V654L |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,813,355 (GRCm39) |
L787P |
probably damaging |
Het |
| Kazald1 |
A |
G |
19: 45,065,317 (GRCm39) |
E66G |
probably benign |
Het |
| Map4 |
T |
A |
9: 109,856,784 (GRCm39) |
D151E |
possibly damaging |
Het |
| Msrb3 |
G |
A |
10: 120,627,356 (GRCm39) |
T42I |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,156 (GRCm39) |
C744Y |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,487,827 (GRCm39) |
H836L |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,582,152 (GRCm39) |
N653D |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,971 (GRCm39) |
Y139C |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,338 (GRCm39) |
T39A |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,558 (GRCm39) |
S313T |
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,488,516 (GRCm39) |
R65* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,285,219 (GRCm39) |
N528D |
probably benign |
Het |
| Pstpip2 |
T |
G |
18: 77,961,079 (GRCm39) |
C221G |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,610 (GRCm39) |
H195L |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sptbn2 |
A |
T |
19: 4,792,446 (GRCm39) |
E1367V |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,927 (GRCm39) |
V346A |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,353,173 (GRCm39) |
E871G |
unknown |
Het |
| Tlr9 |
A |
G |
9: 106,102,305 (GRCm39) |
N532S |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,738 (GRCm39) |
A400T |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,131 (GRCm39) |
Y828* |
probably null |
Het |
| Vps45 |
A |
G |
3: 95,950,164 (GRCm39) |
I255T |
probably benign |
Het |
| Yap1 |
T |
C |
9: 8,001,467 (GRCm39) |
Y173C |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,055 (GRCm39) |
I821F |
probably benign |
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 |
|
|
R1327:Zftraf1
|
UTSW |
15 |
76,533,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- AGGAGCCATGCAGGTACATC -3'
(R):5'- ACCGTTTGTTCCAGCCACAG -3'
Sequencing Primer
(F):5'- ACTGCCCAGAGCCTACTG -3'
(R):5'- GTTCCAGCCACAGAGTTGATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation