Incidental Mutation 'R3013:Zfp235'
| ID |
257565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp235
|
| Ensembl Gene |
ENSMUSG00000047603 |
| Gene Name |
zinc finger protein 235 |
| Synonyms |
0610030O19Rik |
| MMRRC Submission |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23833594-23842666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23840157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 262
(D262G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056549]
[ENSMUST00000205680]
|
| AlphaFold |
Q499D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056549
AA Change: D192G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
AA Change: D192G
| 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: D262G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206809
|
| Meta Mutation Damage Score |
0.1483 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
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 |
|
R1004:Zfp235
|
UTSW |
7 |
23,840,169 (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 |
|
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'- GAGTCTCACAAGCGATCATTCC -3'
(R):5'- ACCATGTACAGGGGACTTATTTCC -3'
Sequencing Primer
(F):5'- GCGATCATTCCAGCATTACCG -3'
(R):5'- TAAGAGGACCTGCTGAGTCTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation