Incidental Mutation 'R0780:Zfand6'
| ID |
76583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfand6
|
| Ensembl Gene |
ENSMUSG00000030629 |
| Gene Name |
zinc finger, AN1-type domain 6 |
| Synonyms |
3110005P07Rik, Za20d3, Awp1 |
| MMRRC Submission |
038960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R0780 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
84264253-84339224 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84265042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 220
(I220F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069537]
[ENSMUST00000178385]
[ENSMUST00000207865]
[ENSMUST00000208782]
[ENSMUST00000209117]
[ENSMUST00000209165]
|
| AlphaFold |
Q9DCH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069537
AA Change: I220F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069228
Gene: ENSMUSG00000030629
AA Change: I220F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_A20
|
11 |
35 |
1.91e-10 |
SMART |
|
ZnF_AN1
|
164 |
201 |
1.46e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178385
AA Change: I220F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135968
Gene: ENSMUSG00000030629
AA Change: I220F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_A20
|
11 |
35 |
1.91e-10 |
SMART |
|
ZnF_AN1
|
164 |
201 |
1.46e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208782
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209117
AA Change: I220F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209165
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
C |
T |
5: 137,288,794 (GRCm39) |
R167C |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,315,102 (GRCm39) |
I85T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,966,322 (GRCm39) |
L1030S |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,569,604 (GRCm39) |
K222E |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,577 (GRCm39) |
F635L |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,461,424 (GRCm39) |
T701M |
probably damaging |
Het |
| Cxcr2 |
T |
A |
1: 74,198,334 (GRCm39) |
M276K |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,993,824 (GRCm39) |
I409K |
unknown |
Het |
| Dnah10 |
G |
T |
5: 124,827,876 (GRCm39) |
G741W |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,036,608 (GRCm39) |
|
probably null |
Het |
| Ifi208 |
A |
G |
1: 173,510,262 (GRCm39) |
D139G |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,874,476 (GRCm39) |
V40E |
unknown |
Het |
| Kmt2d |
G |
T |
15: 98,760,738 (GRCm39) |
P871T |
unknown |
Het |
| Lats2 |
A |
T |
14: 57,928,753 (GRCm39) |
Y1041N |
probably damaging |
Het |
| Lifr |
C |
T |
15: 7,206,947 (GRCm39) |
T486I |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,502,266 (GRCm39) |
D773E |
probably benign |
Het |
| Ptgds |
A |
G |
2: 25,358,104 (GRCm39) |
F143S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,800 (GRCm39) |
S1129G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,467,035 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
G |
6: 12,337,273 (GRCm39) |
V1248A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,307,092 (GRCm39) |
H1562Q |
probably benign |
Het |
| Uba3 |
G |
A |
6: 97,163,666 (GRCm39) |
R294* |
probably null |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,933 (GRCm39) |
V219E |
probably damaging |
Het |
|
| Other mutations in Zfand6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02396:Zfand6
|
APN |
7 |
84,267,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03162:Zfand6
|
APN |
7 |
84,283,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1055:Zfand6
|
UTSW |
7 |
84,265,181 (GRCm39) |
splice site |
probably benign |
|
|
R2427:Zfand6
|
UTSW |
7 |
84,283,498 (GRCm39) |
nonsense |
probably null |
|
|
R3683:Zfand6
|
UTSW |
7 |
84,283,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3685:Zfand6
|
UTSW |
7 |
84,283,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Zfand6
|
UTSW |
7 |
84,267,093 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4939:Zfand6
|
UTSW |
7 |
84,265,030 (GRCm39) |
makesense |
probably null |
|
|
R6013:Zfand6
|
UTSW |
7 |
84,281,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6867:Zfand6
|
UTSW |
7 |
84,265,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Zfand6
|
UTSW |
7 |
84,265,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7692:Zfand6
|
UTSW |
7 |
84,283,141 (GRCm39) |
missense |
not run |
|
|
R8140:Zfand6
|
UTSW |
7 |
84,281,957 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8755:Zfand6
|
UTSW |
7 |
84,281,899 (GRCm39) |
missense |
probably benign |
|
|
R9185:Zfand6
|
UTSW |
7 |
84,283,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCTTATCAAAAGGGAATCGTGC -3'
(R):5'- ATCCATTTCCAGGGTTTGAATGCCG -3'
Sequencing Primer
(F):5'- ACTTCTTTTCAGCCACAGAAACTG -3'
(R):5'- CCGGTGTGGAAATGTTTACTGTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation