Incidental Mutation 'R6586:Fiz1'
| ID |
524399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fiz1
|
| Ensembl Gene |
ENSMUSG00000061374 |
| Gene Name |
Flt3 interacting zinc finger protein 1 |
| Synonyms |
|
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
179.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5010058-5017696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5011400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 373
(A373T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077385]
[ENSMUST00000165320]
[ENSMUST00000167804]
[ENSMUST00000207030]
[ENSMUST00000207412]
[ENSMUST00000207946]
[ENSMUST00000208944]
[ENSMUST00000209060]
|
| AlphaFold |
Q9WTJ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077385
AA Change: A373T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374
AA Change: A373T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
29 |
51 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
113 |
136 |
4.72e-2 |
SMART |
|
low complexity region
|
140 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
204 |
226 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
9.44e-2 |
SMART |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
336 |
357 |
2.12e1 |
SMART |
|
ZnF_C2H2
|
363 |
386 |
2.45e0 |
SMART |
|
low complexity region
|
404 |
414 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
418 |
440 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.12e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165320
AA Change: A373T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374
AA Change: A373T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
29 |
51 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
113 |
136 |
4.72e-2 |
SMART |
|
low complexity region
|
140 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
204 |
226 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
9.44e-2 |
SMART |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
336 |
357 |
2.12e1 |
SMART |
|
ZnF_C2H2
|
363 |
386 |
2.45e0 |
SMART |
|
low complexity region
|
404 |
414 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
418 |
440 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.12e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167804
AA Change: A373T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374
AA Change: A373T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
29 |
51 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
113 |
136 |
4.72e-2 |
SMART |
|
low complexity region
|
140 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
204 |
226 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
9.44e-2 |
SMART |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
336 |
357 |
2.12e1 |
SMART |
|
ZnF_C2H2
|
363 |
386 |
2.45e0 |
SMART |
|
low complexity region
|
404 |
414 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
418 |
440 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.12e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207030
AA Change: A373T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207946
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208944
AA Change: A373T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209060
|
| Meta Mutation Damage Score |
0.1274 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
Het |
|
| Other mutations in Fiz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02606:Fiz1
|
APN |
7 |
5,012,158 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0282:Fiz1
|
UTSW |
7 |
5,012,200 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0548:Fiz1
|
UTSW |
7 |
5,012,167 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1693:Fiz1
|
UTSW |
7 |
5,011,727 (GRCm39) |
missense |
probably benign |
|
|
R2054:Fiz1
|
UTSW |
7 |
5,011,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Fiz1
|
UTSW |
7 |
5,015,880 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2204:Fiz1
|
UTSW |
7 |
5,011,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3427:Fiz1
|
UTSW |
7 |
5,015,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Fiz1
|
UTSW |
7 |
5,011,171 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3616:Fiz1
|
UTSW |
7 |
5,011,171 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4690:Fiz1
|
UTSW |
7 |
5,012,167 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5554:Fiz1
|
UTSW |
7 |
5,015,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Fiz1
|
UTSW |
7 |
5,011,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6343:Fiz1
|
UTSW |
7 |
5,011,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6587:Fiz1
|
UTSW |
7 |
5,011,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7999:Fiz1
|
UTSW |
7 |
5,011,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8348:Fiz1
|
UTSW |
7 |
5,015,909 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8531:Fiz1
|
UTSW |
7 |
5,012,163 (GRCm39) |
nonsense |
probably null |
|
|
R8875:Fiz1
|
UTSW |
7 |
5,012,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9154:Fiz1
|
UTSW |
7 |
5,011,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGAACAGCTTCTCACATTC -3'
(R):5'- AAGCTCACTCATGACCTGC -3'
Sequencing Primer
(F):5'- TCGGAACAGCCAAAGATCTTCTTG -3'
(R):5'- ACCTCCAACGCAGGTTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation