Incidental Mutation 'R4406:Zfp472'
| ID |
327678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp472
|
| Ensembl Gene |
ENSMUSG00000053600 |
| Gene Name |
zinc finger protein 472 |
| Synonyms |
Krim-1B, Krim-1, Krim-1A |
| MMRRC Submission |
041688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33184805-33198185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33197134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 403
(T403N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039132]
|
| AlphaFold |
B0V2W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039132
AA Change: T403N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000036514
Gene: ENSMUSG00000053600
AA Change: T403N
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
T |
11: 84,171,275 (GRCm39) |
L1170F |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,889,198 (GRCm39) |
D207E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,671 (GRCm39) |
S325P |
probably damaging |
Het |
| Ankrd37 |
A |
G |
8: 46,450,131 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,787 (GRCm39) |
P1059S |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,418 (GRCm39) |
|
probably null |
Het |
| Ces1f |
T |
C |
8: 93,989,950 (GRCm39) |
T387A |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,022,620 (GRCm39) |
L1653I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,153,094 (GRCm39) |
A3706V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Gm1527 |
G |
A |
3: 28,949,874 (GRCm39) |
V45M |
possibly damaging |
Het |
| Gm5084 |
A |
G |
13: 60,360,380 (GRCm39) |
|
noncoding transcript |
Het |
| Itpr1 |
T |
A |
6: 108,331,624 (GRCm39) |
H194Q |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,393,954 (GRCm39) |
L973Q |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,184,894 (GRCm39) |
E420G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mib1 |
A |
C |
18: 10,763,289 (GRCm39) |
K446N |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,918,231 (GRCm39) |
W146R |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Or2y1 |
G |
A |
11: 49,385,744 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,079,958 (GRCm39) |
S237P |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,598 (GRCm39) |
Y114* |
probably null |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or9s15 |
T |
A |
1: 92,525,036 (GRCm39) |
M265K |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,549 (GRCm39) |
H70Y |
probably damaging |
Het |
| Pdilt |
A |
C |
7: 119,094,232 (GRCm39) |
S340A |
probably damaging |
Het |
| Ppan |
C |
A |
9: 20,802,288 (GRCm39) |
D226E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sema3g |
G |
A |
14: 30,950,116 (GRCm39) |
V766M |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,013,683 (GRCm39) |
N356I |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,314,096 (GRCm39) |
S496T |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,260,602 (GRCm39) |
V11A |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Umod |
G |
A |
7: 119,065,287 (GRCm39) |
P581S |
probably damaging |
Het |
| Zfat |
A |
G |
15: 68,052,040 (GRCm39) |
S585P |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,748 (GRCm39) |
Q405R |
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 |
|
|
IGL03223:Zfp472
|
APN |
17 |
33,196,248 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCCTGCTATTATCACGAAAG -3'
(R):5'- GTGCGAGAAATATTAGCCACTG -3'
Sequencing Primer
(F):5'- TTCACACTGGAGAGAAGCCCTG -3'
(R):5'- GACTGTAGCAATCATCACGTTGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation