Incidental Mutation 'IGL03223:Zfp472'
ID |
413708 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp472
|
Ensembl Gene |
ENSMUSG00000053600 |
Gene Name |
zinc finger protein 472 |
Synonyms |
Krim-1B, Krim-1, Krim-1A |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03223
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
33184805-33198185 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33196248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 108
(C108R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039132]
|
AlphaFold |
B0V2W5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039132
AA Change: C108R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000036514 Gene: ENSMUSG00000053600 AA Change: C108R
Domain | Start | End | E-Value | Type |
KRAB
|
10 |
62 |
4.36e-15 |
SMART |
ZnF_C2H2
|
197 |
219 |
2.45e0 |
SMART |
ZnF_C2H2
|
225 |
247 |
2.75e-3 |
SMART |
ZnF_C2H2
|
253 |
275 |
1.76e-1 |
SMART |
ZnF_C2H2
|
281 |
303 |
3.58e-2 |
SMART |
ZnF_C2H2
|
309 |
331 |
3.29e-1 |
SMART |
ZnF_C2H2
|
337 |
359 |
6.08e0 |
SMART |
ZnF_C2H2
|
365 |
387 |
2.32e-1 |
SMART |
ZnF_C2H2
|
393 |
415 |
6.57e-1 |
SMART |
ZnF_C2H2
|
421 |
443 |
1.5e-4 |
SMART |
ZnF_C2H2
|
449 |
471 |
2.2e-2 |
SMART |
ZnF_C2H2
|
477 |
499 |
1.01e-1 |
SMART |
ZnF_C2H2
|
505 |
527 |
8.94e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3b1 |
T |
A |
19: 3,965,329 (GRCm39) |
H394L |
probably damaging |
Het |
B430306N03Rik |
G |
A |
17: 48,623,896 (GRCm39) |
V66I |
probably damaging |
Het |
Btbd10 |
T |
C |
7: 112,931,877 (GRCm39) |
N175S |
probably damaging |
Het |
Dock4 |
C |
A |
12: 40,867,593 (GRCm39) |
Q1390K |
probably damaging |
Het |
Eea1 |
A |
C |
10: 95,875,473 (GRCm39) |
E1248A |
probably damaging |
Het |
Farp2 |
T |
A |
1: 93,545,324 (GRCm39) |
Y827* |
probably null |
Het |
Gcc2 |
A |
G |
10: 58,134,556 (GRCm39) |
Y1510C |
probably damaging |
Het |
Igfbp7 |
A |
C |
5: 77,497,318 (GRCm39) |
|
probably benign |
Het |
Il1rapl1 |
A |
C |
X: 86,344,341 (GRCm39) |
C185G |
probably damaging |
Het |
Itga7 |
A |
G |
10: 128,784,680 (GRCm39) |
|
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
Lrrc4 |
A |
T |
6: 28,831,469 (GRCm39) |
C49S |
probably damaging |
Het |
Lrrc49 |
T |
A |
9: 60,595,128 (GRCm39) |
K5N |
possibly damaging |
Het |
Myh13 |
T |
C |
11: 67,241,068 (GRCm39) |
I815T |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,801,297 (GRCm39) |
T948A |
possibly damaging |
Het |
Nhs |
T |
A |
X: 160,624,902 (GRCm39) |
I837F |
probably damaging |
Het |
Or5b113 |
G |
T |
19: 13,342,645 (GRCm39) |
V218L |
probably benign |
Het |
Or5b98 |
T |
C |
19: 12,931,268 (GRCm39) |
V105A |
probably benign |
Het |
Pfpl |
A |
T |
19: 12,407,438 (GRCm39) |
Q563L |
probably damaging |
Het |
Swt1 |
A |
G |
1: 151,255,170 (GRCm39) |
M809T |
possibly damaging |
Het |
Tbc1d13 |
T |
A |
2: 30,038,648 (GRCm39) |
I311N |
probably damaging |
Het |
Tgs1 |
T |
C |
4: 3,591,322 (GRCm39) |
|
probably benign |
Het |
Usf3 |
C |
T |
16: 44,036,813 (GRCm39) |
T431M |
probably damaging |
Het |
Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
Vmn1r234 |
G |
A |
17: 21,449,653 (GRCm39) |
G189D |
probably damaging |
Het |
Zfp14 |
A |
G |
7: 29,737,858 (GRCm39) |
Y376H |
probably damaging |
Het |
Zfp658 |
A |
G |
7: 43,216,735 (GRCm39) |
E35G |
possibly damaging |
Het |
|
Other mutations in Zfp472 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Zfp472
|
APN |
17 |
33,196,498 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL03012:Zfp472
|
APN |
17 |
33,196,545 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03184:Zfp472
|
APN |
17 |
33,196,390 (GRCm39) |
nonsense |
probably null |
|
R0421:Zfp472
|
UTSW |
17 |
33,194,897 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0463:Zfp472
|
UTSW |
17 |
33,194,936 (GRCm39) |
missense |
probably damaging |
0.98 |
R0614:Zfp472
|
UTSW |
17 |
33,196,908 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1348:Zfp472
|
UTSW |
17 |
33,196,794 (GRCm39) |
missense |
probably benign |
0.44 |
R1557:Zfp472
|
UTSW |
17 |
33,194,900 (GRCm39) |
missense |
probably benign |
0.32 |
R1630:Zfp472
|
UTSW |
17 |
33,196,952 (GRCm39) |
nonsense |
probably null |
|
R1725:Zfp472
|
UTSW |
17 |
33,196,311 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1856:Zfp472
|
UTSW |
17 |
33,184,887 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1964:Zfp472
|
UTSW |
17 |
33,196,848 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2115:Zfp472
|
UTSW |
17 |
33,196,988 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2249:Zfp472
|
UTSW |
17 |
33,197,109 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2252:Zfp472
|
UTSW |
17 |
33,195,257 (GRCm39) |
nonsense |
probably null |
|
R3709:Zfp472
|
UTSW |
17 |
33,196,685 (GRCm39) |
nonsense |
probably null |
|
R4119:Zfp472
|
UTSW |
17 |
33,197,189 (GRCm39) |
nonsense |
probably null |
|
R4406:Zfp472
|
UTSW |
17 |
33,197,134 (GRCm39) |
missense |
probably benign |
0.01 |
R4485:Zfp472
|
UTSW |
17 |
33,196,542 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4650:Zfp472
|
UTSW |
17 |
33,196,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4820:Zfp472
|
UTSW |
17 |
33,196,416 (GRCm39) |
missense |
probably benign |
0.01 |
R5369:Zfp472
|
UTSW |
17 |
33,196,717 (GRCm39) |
missense |
probably damaging |
0.98 |
R5438:Zfp472
|
UTSW |
17 |
33,197,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R5529:Zfp472
|
UTSW |
17 |
33,197,407 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5950:Zfp472
|
UTSW |
17 |
33,196,481 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6158:Zfp472
|
UTSW |
17 |
33,197,363 (GRCm39) |
nonsense |
probably null |
|
R7012:Zfp472
|
UTSW |
17 |
33,196,220 (GRCm39) |
missense |
probably benign |
0.00 |
R8108:Zfp472
|
UTSW |
17 |
33,196,977 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8290:Zfp472
|
UTSW |
17 |
33,197,088 (GRCm39) |
missense |
probably benign |
|
R8905:Zfp472
|
UTSW |
17 |
33,197,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9747:Zfp472
|
UTSW |
17 |
33,196,271 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Posted On |
2016-08-02 |