Incidental Mutation 'R6340:Fiz1'
| ID |
513882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fiz1
|
| Ensembl Gene |
ENSMUSG00000061374 |
| Gene Name |
Flt3 interacting zinc finger protein 1 |
| Synonyms |
|
| MMRRC Submission |
044494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R6340 (G1)
|
| Quality Score |
115.008 |
|
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: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (41/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
C |
T |
1: 34,771,304 (GRCm39) |
L1204F |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,822,115 (GRCm39) |
D495G |
probably benign |
Het |
| B020011L13Rik |
G |
A |
1: 117,729,614 (GRCm39) |
V374I |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,449 (GRCm39) |
V214D |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,773 (GRCm39) |
V573A |
probably damaging |
Het |
| Elmo3 |
T |
A |
8: 106,033,379 (GRCm39) |
I115N |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,874 (GRCm39) |
Y564N |
probably damaging |
Het |
| Fam180a |
A |
C |
6: 35,292,322 (GRCm39) |
L28R |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,152 (GRCm39) |
F243L |
probably damaging |
Het |
| Gabra5 |
A |
T |
7: 57,063,496 (GRCm39) |
N309K |
probably damaging |
Het |
| Gm17654 |
A |
G |
14: 43,815,534 (GRCm39) |
L91P |
unknown |
Het |
| Gm19684 |
G |
A |
17: 36,438,402 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
A |
T |
14: 118,504,669 (GRCm39) |
M34L |
unknown |
Het |
| Hmgcr |
A |
G |
13: 96,802,366 (GRCm39) |
F106S |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,081,574 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,191,393 (GRCm39) |
Y5H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,336 (GRCm39) |
T77A |
probably benign |
Het |
| Il20 |
A |
G |
1: 130,836,118 (GRCm39) |
Y142H |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,342,042 (GRCm39) |
D2160E |
probably benign |
Het |
| Melk |
A |
G |
4: 44,340,633 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,789,949 (GRCm39) |
V454M |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,790,124 (GRCm39) |
N395K |
probably benign |
Het |
| Mnt |
A |
G |
11: 74,727,242 (GRCm39) |
K43E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,335,616 (GRCm39) |
I853T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,370,032 (GRCm39) |
T37A |
probably benign |
Het |
| Or8d1b |
T |
G |
9: 38,887,062 (GRCm39) |
L30R |
probably damaging |
Het |
| Pdia4 |
A |
G |
6: 47,777,952 (GRCm39) |
S347P |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,794,649 (GRCm39) |
Q1837H |
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,623,877 (GRCm39) |
N99S |
possibly damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,711 (GRCm39) |
N299K |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,725 (GRCm39) |
V52E |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,994,517 (GRCm39) |
I305N |
probably damaging |
Het |
| Trav14-1 |
T |
C |
14: 53,791,955 (GRCm39) |
S102P |
probably damaging |
Het |
| Tsga10 |
C |
A |
1: 37,874,266 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,347,711 (GRCm39) |
H837Q |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,727 (GRCm39) |
R575S |
probably benign |
Het |
| Yae1d1 |
C |
A |
13: 18,167,861 (GRCm39) |
A11S |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,368,548 (GRCm39) |
I459T |
possibly damaging |
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 |
|
R6343:Fiz1
|
UTSW |
7 |
5,011,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6586: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'- GGTGAACGGAACAGCTTCTC -3'
(R):5'- AGCTCACTCATGACCTGCAG -3'
Sequencing Primer
(F):5'- GGAACAGCTTCTCACATTCGG -3'
(R):5'- ACCTCCAACGCAGGTTTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation