Incidental Mutation 'R4379:Zfp28'
ID |
325244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp28
|
Ensembl Gene |
ENSMUSG00000062861 |
Gene Name |
zinc finger protein 28 |
Synonyms |
2810438M17Rik, mkr-5, Zfp-28 |
MMRRC Submission |
041677-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R4379 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
6386317-6399636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6396441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 292
(T292I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081022]
|
AlphaFold |
P10078 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081022
AA Change: T292I
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000079812 Gene: ENSMUSG00000062861 AA Change: T292I
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
50 |
N/A |
INTRINSIC |
KRAB
|
103 |
163 |
3.53e-33 |
SMART |
ZnF_C2H2
|
377 |
399 |
3.95e-4 |
SMART |
ZnF_C2H2
|
405 |
427 |
6.88e-4 |
SMART |
ZnF_C2H2
|
433 |
456 |
1.2e-3 |
SMART |
ZnF_C2H2
|
462 |
484 |
9.58e-3 |
SMART |
ZnF_C2H2
|
490 |
512 |
2.57e-3 |
SMART |
ZnF_C2H2
|
518 |
540 |
1.82e-3 |
SMART |
ZnF_C2H2
|
546 |
568 |
2.4e-3 |
SMART |
ZnF_C2H2
|
574 |
596 |
6.32e-3 |
SMART |
ZnF_C2H2
|
602 |
624 |
1.38e-3 |
SMART |
ZnF_C2H2
|
630 |
652 |
4.87e-4 |
SMART |
ZnF_C2H2
|
658 |
680 |
2.91e-2 |
SMART |
ZnF_C2H2
|
686 |
708 |
2.36e-2 |
SMART |
ZnF_C2H2
|
714 |
736 |
6.42e-4 |
SMART |
ZnF_C2H2
|
742 |
764 |
2.4e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207086
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207465
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207809
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208949
|
Meta Mutation Damage Score |
0.0733 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
95% (53/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
C |
A |
5: 8,915,875 (GRCm39) |
H1252Q |
probably benign |
Het |
Adcy3 |
T |
C |
12: 4,184,558 (GRCm39) |
L78P |
probably damaging |
Het |
Agmat |
G |
T |
4: 141,484,802 (GRCm39) |
A282S |
probably benign |
Het |
Akap8 |
G |
T |
17: 32,525,534 (GRCm39) |
T515K |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,540,488 (GRCm39) |
|
probably benign |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
AW209491 |
T |
C |
13: 14,812,412 (GRCm39) |
*422Q |
probably null |
Het |
Cdan1 |
A |
G |
2: 120,557,099 (GRCm39) |
F576L |
probably damaging |
Het |
Cers5 |
A |
G |
15: 99,649,134 (GRCm39) |
F45L |
probably damaging |
Het |
Dst |
A |
G |
1: 34,267,056 (GRCm39) |
I5011V |
probably benign |
Het |
Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
En1 |
A |
G |
1: 120,531,084 (GRCm39) |
N108S |
possibly damaging |
Het |
Entrep3 |
A |
T |
3: 89,093,064 (GRCm39) |
D274V |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,538,677 (GRCm39) |
S591P |
probably benign |
Het |
Glt1d1 |
T |
C |
5: 127,771,346 (GRCm39) |
V279A |
possibly damaging |
Het |
Gm10051 |
C |
T |
5: 133,504,287 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
G |
T |
2: 21,830,025 (GRCm39) |
G690V |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Grm7 |
T |
A |
6: 111,223,335 (GRCm39) |
N458K |
probably benign |
Het |
Hibadh |
G |
A |
6: 52,597,027 (GRCm39) |
S139L |
probably damaging |
Het |
Hivep1 |
C |
T |
13: 42,308,906 (GRCm39) |
S382F |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,568,171 (GRCm39) |
N403D |
probably benign |
Het |
Igkv4-81 |
A |
G |
6: 68,967,933 (GRCm39) |
L56S |
probably damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lmbr1l |
G |
T |
15: 98,807,144 (GRCm39) |
C212* |
probably null |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Lrrc34 |
A |
G |
3: 30,685,524 (GRCm39) |
L275P |
probably damaging |
Het |
Mgam2-ps |
T |
C |
6: 40,810,793 (GRCm39) |
|
noncoding transcript |
Het |
Mief1 |
T |
G |
15: 80,132,160 (GRCm39) |
M77R |
possibly damaging |
Het |
Neurod6 |
T |
C |
6: 55,656,257 (GRCm39) |
T127A |
probably damaging |
Het |
Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,288,554 (GRCm39) |
T653S |
probably benign |
Het |
Nol7 |
G |
T |
13: 43,555,051 (GRCm39) |
W228L |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,194,948 (GRCm39) |
R468H |
probably damaging |
Het |
Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
Pbrm1 |
A |
T |
14: 30,789,663 (GRCm39) |
H785L |
probably damaging |
Het |
Pus7 |
T |
C |
5: 23,953,864 (GRCm39) |
|
probably benign |
Het |
Qser1 |
G |
T |
2: 104,596,404 (GRCm39) |
|
probably null |
Het |
Rrm1 |
T |
C |
7: 102,095,800 (GRCm39) |
V51A |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 79,129,896 (GRCm39) |
N112S |
probably damaging |
Het |
Svil |
C |
T |
18: 5,046,909 (GRCm39) |
H52Y |
probably damaging |
Het |
Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
Treml1 |
A |
G |
17: 48,667,424 (GRCm39) |
Y103C |
probably damaging |
Het |
Trim28 |
A |
T |
7: 12,763,407 (GRCm39) |
D516V |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,334,499 (GRCm39) |
N1164K |
possibly damaging |
Het |
Vmn2r115 |
A |
G |
17: 23,564,197 (GRCm39) |
Y123C |
possibly damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zmynd8 |
A |
T |
2: 165,649,858 (GRCm39) |
|
probably null |
Het |
Zscan4d |
A |
G |
7: 10,898,905 (GRCm39) |
V124A |
probably benign |
Het |
|
Other mutations in Zfp28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00737:Zfp28
|
APN |
7 |
6,396,429 (GRCm39) |
makesense |
probably null |
|
IGL02300:Zfp28
|
APN |
7 |
6,392,495 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02541:Zfp28
|
APN |
7 |
6,396,479 (GRCm39) |
nonsense |
probably null |
|
FR4340:Zfp28
|
UTSW |
7 |
6,397,862 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4342:Zfp28
|
UTSW |
7 |
6,397,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R0442:Zfp28
|
UTSW |
7 |
6,397,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R0462:Zfp28
|
UTSW |
7 |
6,395,239 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0799:Zfp28
|
UTSW |
7 |
6,387,182 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1081:Zfp28
|
UTSW |
7 |
6,392,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1674:Zfp28
|
UTSW |
7 |
6,397,942 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1783:Zfp28
|
UTSW |
7 |
6,397,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R2119:Zfp28
|
UTSW |
7 |
6,397,875 (GRCm39) |
missense |
probably benign |
0.00 |
R2186:Zfp28
|
UTSW |
7 |
6,397,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R4280:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
R4281:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
R4283:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
R4331:Zfp28
|
UTSW |
7 |
6,396,700 (GRCm39) |
missense |
probably benign |
0.07 |
R4380:Zfp28
|
UTSW |
7 |
6,396,441 (GRCm39) |
missense |
probably benign |
0.11 |
R4505:Zfp28
|
UTSW |
7 |
6,397,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4659:Zfp28
|
UTSW |
7 |
6,396,506 (GRCm39) |
missense |
probably benign |
0.05 |
R4706:Zfp28
|
UTSW |
7 |
6,392,793 (GRCm39) |
missense |
probably damaging |
0.99 |
R5524:Zfp28
|
UTSW |
7 |
6,397,850 (GRCm39) |
splice site |
probably null |
|
R6269:Zfp28
|
UTSW |
7 |
6,396,612 (GRCm39) |
missense |
probably benign |
0.00 |
R6981:Zfp28
|
UTSW |
7 |
6,397,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Zfp28
|
UTSW |
7 |
6,397,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7176:Zfp28
|
UTSW |
7 |
6,386,456 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7312:Zfp28
|
UTSW |
7 |
6,386,593 (GRCm39) |
unclassified |
probably benign |
|
R7422:Zfp28
|
UTSW |
7 |
6,397,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R7423:Zfp28
|
UTSW |
7 |
6,396,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7937:Zfp28
|
UTSW |
7 |
6,396,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Zfp28
|
UTSW |
7 |
6,392,828 (GRCm39) |
missense |
probably benign |
0.02 |
R8704:Zfp28
|
UTSW |
7 |
6,397,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R8804:Zfp28
|
UTSW |
7 |
6,393,399 (GRCm39) |
missense |
probably damaging |
0.98 |
R8854:Zfp28
|
UTSW |
7 |
6,397,938 (GRCm39) |
missense |
probably benign |
0.01 |
R9071:Zfp28
|
UTSW |
7 |
6,397,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R9235:Zfp28
|
UTSW |
7 |
6,397,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9276:Zfp28
|
UTSW |
7 |
6,397,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Zfp28
|
UTSW |
7 |
6,392,816 (GRCm39) |
missense |
probably benign |
0.09 |
R9600:Zfp28
|
UTSW |
7 |
6,397,917 (GRCm39) |
missense |
probably benign |
0.00 |
R9651:Zfp28
|
UTSW |
7 |
6,395,623 (GRCm39) |
missense |
|
|
R9653:Zfp28
|
UTSW |
7 |
6,395,623 (GRCm39) |
missense |
|
|
R9712:Zfp28
|
UTSW |
7 |
6,396,878 (GRCm39) |
missense |
probably damaging |
1.00 |
Y4340:Zfp28
|
UTSW |
7 |
6,397,656 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zfp28
|
UTSW |
7 |
6,387,186 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- TATTCCGAGTGGCTCCTTCG -3'
(R):5'- GGAGAAACTTTTACCTGAGTCAC -3'
Sequencing Primer
(F):5'- TTCGTGCCAGCAAGACAG -3'
(R):5'- ACAGTTATGACTTCTCTCGTCTGAAC -3'
|
Posted On |
2015-07-06 |