Incidental Mutation 'R1004:Zfp235'
| ID |
97952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp235
|
| Ensembl Gene |
ENSMUSG00000047603 |
| Gene Name |
zinc finger protein 235 |
| Synonyms |
0610030O19Rik |
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23833594-23842666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23840169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 266
(L266Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056549]
[ENSMUST00000205680]
|
| AlphaFold |
Q499D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056549
AA Change: L196Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
AA Change: L196Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
71 |
1.09e-15 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
619 |
641 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
647 |
669 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
675 |
697 |
4.87e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205680
AA Change: L266Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206809
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [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 |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,276,487 (GRCm39) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,276 (GRCm39) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,658,509 (GRCm39) |
Q75L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,688,493 (GRCm39) |
Y345F |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,579,757 (GRCm39) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,937 (GRCm39) |
|
probably benign |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp235 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Zfp235
|
APN |
7 |
23,836,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Zfp235
|
APN |
7 |
23,834,727 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R0107:Zfp235
|
UTSW |
7 |
23,836,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Zfp235
|
UTSW |
7 |
23,836,556 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0513:Zfp235
|
UTSW |
7 |
23,841,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Zfp235
|
UTSW |
7 |
23,840,563 (GRCm39) |
nonsense |
probably null |
|
|
R1958:Zfp235
|
UTSW |
7 |
23,839,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2167:Zfp235
|
UTSW |
7 |
23,840,387 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2511:Zfp235
|
UTSW |
7 |
23,841,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3013:Zfp235
|
UTSW |
7 |
23,840,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3806:Zfp235
|
UTSW |
7 |
23,840,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4613:Zfp235
|
UTSW |
7 |
23,841,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Zfp235
|
UTSW |
7 |
23,840,384 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4977:Zfp235
|
UTSW |
7 |
23,841,609 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5085:Zfp235
|
UTSW |
7 |
23,836,546 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5664:Zfp235
|
UTSW |
7 |
23,841,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Zfp235
|
UTSW |
7 |
23,840,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6650:Zfp235
|
UTSW |
7 |
23,836,463 (GRCm39) |
splice site |
probably null |
|
|
R7694:Zfp235
|
UTSW |
7 |
23,841,525 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8031:Zfp235
|
UTSW |
7 |
23,841,114 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8188:Zfp235
|
UTSW |
7 |
23,841,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Zfp235
|
UTSW |
7 |
23,839,924 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9115:Zfp235
|
UTSW |
7 |
23,841,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Zfp235
|
UTSW |
7 |
23,839,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9401:Zfp235
|
UTSW |
7 |
23,841,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Zfp235
|
UTSW |
7 |
23,839,862 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9523:Zfp235
|
UTSW |
7 |
23,840,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Zfp235
|
UTSW |
7 |
23,841,669 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCGATCATTCCAGCATTACCG -3'
(R):5'- AGCCTTGCCACACTCTTGACAC -3'
Sequencing Primer
(F):5'- TTCCAGCATTACCGAAAATCAGG -3'
(R):5'- GGACTTATTTCCTAAGAGGACCTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation