Incidental Mutation 'R6650:Zfp235'
| ID |
527742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp235
|
| Ensembl Gene |
ENSMUSG00000047603 |
| Gene Name |
zinc finger protein 235 |
| Synonyms |
0610030O19Rik |
| MMRRC Submission |
044771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23833594-23842666 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 23836463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056549]
[ENSMUST00000205680]
|
| AlphaFold |
Q499D5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056549
|
| SMART Domains |
Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
| 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 null
Transcript: ENSMUST00000205680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206809
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
| Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
| Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
| Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
| Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
| Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
| Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
| Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
| Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
| Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
| Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
| Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
| Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
probably damaging |
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 |
|
R6440:Zfp235
|
UTSW |
7 |
23,840,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- CCTCTGTAGCTATAGAAAGGGGTG -3'
(R):5'- ACGGGTGTGAACTCTGACATC -3'
Sequencing Primer
(F):5'- GTTGACACCAGCGAGAGTCATC -3'
(R):5'- GGTGTGAACTCTGACATCACCAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation