Incidental Mutation 'R4270:Zfp597'
| ID |
322141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp597
|
| Ensembl Gene |
ENSMUSG00000039789 |
| Gene Name |
zinc finger protein 597 |
| Synonyms |
4933407K12Rik |
| MMRRC Submission |
041075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R4270 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3679408-3702241 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 3689954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090522]
[ENSMUST00000151988]
|
| AlphaFold |
E9Q6S0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090522
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
155 |
177 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
2.75e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151988
|
| SMART Domains |
Protein: ENSMUSP00000118782
Gene: ENSMUSG00000005982
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_7
|
50 |
157 |
1.1e-11 |
PFAM |
|
Pfam:Acetyltransf_1
|
57 |
156 |
1.3e-15 |
PFAM |
|
Pfam:FR47
|
77 |
164 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181068
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Ctsa |
G |
T |
2: 164,677,222 (GRCm39) |
M210I |
probably benign |
Het |
| Ctsh |
A |
G |
9: 89,943,651 (GRCm39) |
H92R |
probably damaging |
Het |
| Fanca |
A |
G |
8: 123,995,533 (GRCm39) |
L117P |
probably damaging |
Het |
| Foxo1 |
A |
G |
3: 52,252,826 (GRCm39) |
T330A |
probably benign |
Het |
| Ighv1-43 |
C |
G |
12: 114,909,772 (GRCm39) |
G50A |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Mxra8 |
C |
A |
4: 155,925,594 (GRCm39) |
P98Q |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,567 (GRCm39) |
C58S |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,278,997 (GRCm39) |
N52D |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,816 (GRCm39) |
N94I |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,550 (GRCm39) |
D147G |
probably damaging |
Het |
| Slc30a5 |
T |
G |
13: 100,965,521 (GRCm39) |
R29S |
probably benign |
Het |
| Syt10 |
C |
A |
15: 89,675,095 (GRCm39) |
R417L |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,093 (GRCm39) |
V351A |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,717,074 (GRCm39) |
Y321* |
probably null |
Het |
| Vmn2r107 |
G |
T |
17: 20,576,041 (GRCm39) |
V124F |
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,896,235 (GRCm39) |
V363A |
possibly damaging |
Het |
|
| Other mutations in Zfp597 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02939:Zfp597
|
APN |
16 |
3,683,805 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02972:Zfp597
|
APN |
16 |
3,684,387 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03289:Zfp597
|
APN |
16 |
3,683,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0336:Zfp597
|
UTSW |
16 |
3,684,243 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0621:Zfp597
|
UTSW |
16 |
3,684,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4361:Zfp597
|
UTSW |
16 |
3,683,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Zfp597
|
UTSW |
16 |
3,683,851 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5033:Zfp597
|
UTSW |
16 |
3,684,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5128:Zfp597
|
UTSW |
16 |
3,689,988 (GRCm39) |
unclassified |
probably benign |
|
|
R5786:Zfp597
|
UTSW |
16 |
3,684,023 (GRCm39) |
nonsense |
probably null |
|
|
R5940:Zfp597
|
UTSW |
16 |
3,683,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7007:Zfp597
|
UTSW |
16 |
3,683,791 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7008:Zfp597
|
UTSW |
16 |
3,683,631 (GRCm39) |
missense |
probably benign |
|
|
R7392:Zfp597
|
UTSW |
16 |
3,684,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7963:Zfp597
|
UTSW |
16 |
3,689,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7976:Zfp597
|
UTSW |
16 |
3,684,375 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1176:Zfp597
|
UTSW |
16 |
3,683,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGATGATTCTGAAATGAGGAAGTC -3'
(R):5'- GCCAATCAGGATGCAGGATG -3'
Sequencing Primer
(F):5'- TTCTGAAATGAGGAAGTCGGTAAGCC -3'
(R):5'- CTACTGCGTGGGGAGCATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation