Incidental Mutation 'R3416:Zftraf1'
| ID |
475607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zftraf1
|
| Ensembl Gene |
ENSMUSG00000053929 |
| Gene Name |
zinc finger TRAF type containing 1 |
| Synonyms |
Cyhr1, Chrp, 1110031M01Rik |
| MMRRC Submission |
040634-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R3416 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76527586-76541120 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 76542915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000066677]
[ENSMUST00000081291]
[ENSMUST00000176274]
[ENSMUST00000177359]
[ENSMUST00000229524]
[ENSMUST00000231152]
[ENSMUST00000230964]
[ENSMUST00000230451]
|
| AlphaFold |
Q9QXA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004294
|
| SMART Domains |
Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
coiled coil region
|
195 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
274 |
345 |
N/A |
INTRINSIC |
|
KISc
|
407 |
740 |
3.21e-141 |
SMART |
|
low complexity region
|
745 |
781 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066677
AA Change: W82R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929
AA Change: W82R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
|
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081291
|
| SMART Domains |
Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
|
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176274
|
| SMART Domains |
Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
| 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: ENSMUST00000177359
AA Change: W82R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929
AA Change: W82R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
|
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229112
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229524
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231152
AA Change: W82R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229541
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
T |
C |
10: 83,595,496 (GRCm39) |
|
probably null |
Het |
| Abi1 |
T |
C |
2: 22,930,014 (GRCm39) |
S22G |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
| Adnp2 |
T |
C |
18: 80,171,373 (GRCm39) |
E1012G |
possibly damaging |
Het |
| Azin1 |
A |
T |
15: 38,493,790 (GRCm39) |
S278T |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,417,325 (GRCm39) |
L142P |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,265,417 (GRCm39) |
Q510R |
possibly damaging |
Het |
| Gfra1 |
T |
C |
19: 58,255,544 (GRCm39) |
Y301C |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mycs |
C |
T |
X: 5,380,810 (GRCm39) |
S90N |
possibly damaging |
Het |
| Or5p80 |
G |
A |
7: 108,229,225 (GRCm39) |
V9I |
possibly damaging |
Het |
| Pcdha8 |
A |
T |
18: 37,125,683 (GRCm39) |
Q55L |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,760 (GRCm39) |
T2756A |
probably damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,695,532 (GRCm39) |
C71S |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,398 (GRCm39) |
|
probably benign |
Het |
| Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
| Scn4a |
A |
T |
11: 106,221,239 (GRCm39) |
S807T |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,193,263 (GRCm39) |
|
probably benign |
Het |
| Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
| Susd5 |
A |
G |
9: 113,924,726 (GRCm39) |
D203G |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
| Tha1 |
T |
C |
11: 117,764,026 (GRCm39) |
D67G |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,241 (GRCm39) |
I705F |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zan |
T |
A |
5: 137,433,982 (GRCm39) |
E2250D |
unknown |
Het |
| Zfp560 |
A |
T |
9: 20,258,974 (GRCm39) |
Y629* |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2017-05-11 |
Incidental Mutation