Incidental Mutation 'R4485:Zfp472'
| ID |
331594 |
| 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 |
041741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4485 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33184805-33198185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33196542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 206
(W206R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039132]
|
| AlphaFold |
B0V2W5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039132
AA Change: W206R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036514
Gene: ENSMUSG00000053600
AA Change: W206R
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,968 (GRCm39) |
I190L |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,745,944 (GRCm39) |
|
probably benign |
Het |
| Apol7b |
C |
A |
15: 77,307,866 (GRCm39) |
V210L |
probably benign |
Het |
| Banf2 |
C |
T |
2: 143,915,772 (GRCm39) |
T71M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,004,590 (GRCm39) |
D130G |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,426,306 (GRCm39) |
F214L |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,099,283 (GRCm39) |
L605S |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,520 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cpb1 |
T |
G |
3: 20,303,865 (GRCm39) |
M400L |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,153,531 (GRCm39) |
I52N |
possibly damaging |
Het |
| Gbp9 |
C |
G |
5: 105,231,674 (GRCm39) |
G304A |
probably damaging |
Het |
| Gm14226 |
G |
A |
2: 154,867,191 (GRCm39) |
V383I |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,864,051 (GRCm39) |
T126A |
probably benign |
Het |
| Npm2 |
A |
T |
14: 70,885,749 (GRCm39) |
V152D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,808 (GRCm39) |
V295D |
probably damaging |
Het |
| Or5b107 |
T |
C |
19: 13,142,855 (GRCm39) |
V159A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,919 (GRCm39) |
I195T |
probably benign |
Het |
| Or5p58 |
T |
C |
7: 107,694,222 (GRCm39) |
D185G |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,344 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Plat |
G |
A |
8: 23,262,228 (GRCm39) |
S84N |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,130 (GRCm39) |
D224G |
probably damaging |
Het |
| Psg25 |
C |
A |
7: 18,260,203 (GRCm39) |
V232F |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Pus7l |
G |
T |
15: 94,421,371 (GRCm39) |
H646Q |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,789,581 (GRCm39) |
S1511N |
probably damaging |
Het |
| Slc16a1 |
A |
G |
3: 104,562,794 (GRCm39) |
K413R |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,400,304 (GRCm39) |
M137K |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,248,570 (GRCm39) |
H1944L |
possibly damaging |
Het |
| Tmem145 |
A |
G |
7: 25,006,587 (GRCm39) |
E65G |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,678 (GRCm39) |
Y129* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,910,621 (GRCm39) |
H671R |
possibly damaging |
Het |
| Zfp219 |
A |
G |
14: 52,244,841 (GRCm39) |
V518A |
probably 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 |
|
|
R4406:Zfp472
|
UTSW |
17 |
33,197,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GGAAGGACTTCACTTATTCTGAGTTG -3'
(R):5'- AGGGTTTCACTCCAGTGTGAG -3'
Sequencing Primer
(F):5'- GCTTTGGATGCATAAGAGCCCTC -3'
(R):5'- CTGCGATCAATGAAGGCTTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation