Incidental Mutation 'R6440:Zfp235'
ID |
518973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp235
|
Ensembl Gene |
ENSMUSG00000047603 |
Gene Name |
zinc finger protein 235 |
Synonyms |
0610030O19Rik |
MMRRC Submission |
044578-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6440 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23833594-23842666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23840040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 153
(K153R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056549]
[ENSMUST00000205680]
|
AlphaFold |
Q499D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056549
AA Change: K153R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000050803 Gene: ENSMUSG00000047603 AA Change: K153R
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: K223R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205736
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206809
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.7%
|
Validation Efficiency |
100% (40/40) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
C |
17: 56,101,744 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
C |
T |
5: 81,942,341 (GRCm39) |
Q684* |
probably null |
Het |
Ahi1 |
T |
A |
10: 20,835,981 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
G |
1: 58,133,631 (GRCm39) |
T1070A |
probably damaging |
Het |
B3gnt9 |
C |
T |
8: 105,980,531 (GRCm39) |
|
probably null |
Het |
C3ar1 |
G |
T |
6: 122,827,467 (GRCm39) |
A250E |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,771,143 (GRCm39) |
F284L |
probably damaging |
Het |
Cdc25a |
T |
C |
9: 109,710,566 (GRCm39) |
I90T |
probably benign |
Het |
Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
Ces2a |
C |
T |
8: 105,467,954 (GRCm39) |
A528V |
probably benign |
Het |
Cyp2c70 |
T |
C |
19: 40,145,250 (GRCm39) |
N402S |
possibly damaging |
Het |
F3 |
A |
G |
3: 121,518,686 (GRCm39) |
E50G |
probably damaging |
Het |
Fli1 |
A |
T |
9: 32,335,197 (GRCm39) |
S412T |
probably benign |
Het |
Flt1 |
T |
A |
5: 147,501,115 (GRCm39) |
D1306V |
possibly damaging |
Het |
Ggt7 |
T |
C |
2: 155,340,731 (GRCm39) |
D424G |
probably damaging |
Het |
Grm7 |
A |
T |
6: 111,230,981 (GRCm39) |
N468I |
probably damaging |
Het |
Htr5a |
T |
A |
5: 28,055,870 (GRCm39) |
V287E |
probably damaging |
Het |
Map3k21 |
T |
C |
8: 126,637,876 (GRCm39) |
V154A |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,552,655 (GRCm39) |
V4546A |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,147,516 (GRCm39) |
Y121C |
probably damaging |
Het |
Nckap1l |
C |
A |
15: 103,379,659 (GRCm39) |
Y315* |
probably null |
Het |
Ntpcr |
T |
A |
8: 126,471,981 (GRCm39) |
S64T |
probably damaging |
Het |
Or1e1c |
A |
T |
11: 73,266,173 (GRCm39) |
E202D |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,637,837 (GRCm39) |
S186P |
probably damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,490 (GRCm39) |
F26S |
probably damaging |
Het |
Pate9 |
T |
A |
9: 36,453,168 (GRCm39) |
M1L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,674,902 (GRCm39) |
C5R |
probably damaging |
Het |
Pgap2 |
T |
A |
7: 101,886,594 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
T |
C |
11: 68,424,522 (GRCm39) |
W376R |
probably benign |
Het |
Plekha2 |
T |
C |
8: 25,578,413 (GRCm39) |
Y29C |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,234,180 (GRCm39) |
K779E |
probably damaging |
Het |
Prss16 |
A |
G |
13: 22,187,330 (GRCm39) |
V98A |
probably damaging |
Het |
Robo2 |
C |
T |
16: 73,713,010 (GRCm39) |
D1287N |
probably benign |
Het |
Sgsm1 |
A |
G |
5: 113,426,997 (GRCm39) |
|
probably null |
Het |
Slc40a1 |
A |
T |
1: 45,964,422 (GRCm39) |
M1K |
probably null |
Het |
Smo |
A |
G |
6: 29,756,813 (GRCm39) |
H437R |
possibly damaging |
Het |
Sult3a1 |
T |
C |
10: 33,746,198 (GRCm39) |
Y173H |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,116,555 (GRCm39) |
R898S |
possibly damaging |
Het |
Synpo2l |
A |
G |
14: 20,718,244 (GRCm39) |
V7A |
probably damaging |
Het |
Thsd1 |
C |
T |
8: 22,748,569 (GRCm39) |
A427V |
possibly damaging |
Het |
Tnfrsf17 |
G |
A |
16: 11,137,754 (GRCm39) |
G164S |
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 |
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 |
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'- ATGTCAAGAAACTGGCCAGC -3'
(R):5'- GAAGATGACTTGATCACAGTCACC -3'
Sequencing Primer
(F):5'- CCAGCACTCCAGATGTTGTAG -3'
(R):5'- TCACCACTGCTGGGGACTTTG -3'
|
Posted On |
2018-05-24 |