Incidental Mutation 'IGL03163:Zftraf1'
| ID |
411531 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zftraf1
|
| Ensembl Gene |
ENSMUSG00000053929 |
| Gene Name |
zinc finger TRAF type containing 1 |
| Synonyms |
Cyhr1, Chrp, 1110031M01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
IGL03163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76527586-76541120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76543474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 13
(L13Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000066677]
[ENSMUST00000081291]
[ENSMUST00000176274]
[ENSMUST00000177359]
[ENSMUST00000231152]
[ENSMUST00000229524]
[ENSMUST00000230451]
[ENSMUST00000230964]
|
| 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: L13Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929
AA Change: L13Q
| 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 damaging
Transcript: ENSMUST00000081291
AA Change: L13Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: L13Q
| 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
|
| 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: L13Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929
AA Change: L13Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000229513
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231152
AA Change: L13Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229524
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
| Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
| Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
| Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
| Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
| Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
| Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
| Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
| Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
| Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
| Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
| Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
| Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation