Incidental Mutation 'R9635:Zfp512'
| ID |
725746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512
|
| Ensembl Gene |
ENSMUSG00000062761 |
| Gene Name |
zinc finger protein 512 |
| Synonyms |
2500002M11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R9635 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31609775-31639098 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31623669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 124
(H124R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076264]
[ENSMUST00000200782]
[ENSMUST00000201450]
[ENSMUST00000202061]
[ENSMUST00000202244]
|
| AlphaFold |
Q69Z99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076264
AA Change: H124R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: H124R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
172 |
197 |
2e-8 |
BLAST |
|
ZnF_C2H2
|
200 |
223 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
254 |
276 |
2.63e2 |
SMART |
|
ZnF_C2H2
|
290 |
313 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
7.37e1 |
SMART |
|
ZnF_C2H2
|
442 |
465 |
3.11e-2 |
SMART |
|
low complexity region
|
485 |
511 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200782
|
| SMART Domains |
Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
55 |
79 |
9e-9 |
BLAST |
|
ZnF_C2H2
|
83 |
106 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
1.1e0 |
SMART |
|
ZnF_C2H2
|
173 |
196 |
1.5e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201450
AA Change: T12A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761
AA Change: T12A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
46 |
69 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
100 |
122 |
1.1e0 |
SMART |
|
ZnF_C2H2
|
136 |
159 |
1.5e-5 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000143978
Gene: ENSMUSG00000062761
AA Change: H47R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202244
AA Change: H124R
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: H124R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
172 |
197 |
1e-8 |
BLAST |
|
ZnF_C2H2
|
200 |
223 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
3.2e-1 |
SMART |
|
ZnF_C2H2
|
386 |
409 |
1.4e-4 |
SMART |
|
low complexity region
|
429 |
455 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
T |
5: 4,100,545 (GRCm39) |
T2736S |
probably benign |
Het |
| AW209491 |
T |
C |
13: 14,811,957 (GRCm39) |
V270A |
probably benign |
Het |
| Best3 |
A |
T |
10: 116,838,450 (GRCm39) |
K169N |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,816 (GRCm39) |
K101R |
probably damaging |
Het |
| Cfhr4 |
C |
T |
1: 139,701,764 (GRCm39) |
V117I |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,461,079 (GRCm39) |
D1223V |
possibly damaging |
Het |
| Commd2 |
T |
C |
3: 57,559,064 (GRCm39) |
D4G |
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,294 (GRCm39) |
T99A |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,320 (GRCm39) |
F60I |
possibly damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dnmbp |
C |
A |
19: 43,855,974 (GRCm39) |
A261S |
probably benign |
Het |
| Fcgbp |
A |
C |
7: 27,800,832 (GRCm39) |
T1293P |
probably benign |
Het |
| Gal3st2b |
A |
C |
1: 93,868,777 (GRCm39) |
N336T |
probably benign |
Het |
| Gm10309 |
T |
C |
17: 86,806,494 (GRCm39) |
T7A |
unknown |
Het |
| Gm10322 |
A |
T |
10: 59,451,931 (GRCm39) |
H16L |
possibly damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,199 (GRCm39) |
L288P |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,899 (GRCm39) |
I142M |
|
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,527 (GRCm39) |
D2438E |
probably benign |
Het |
| Map3k20 |
G |
A |
2: 72,232,403 (GRCm39) |
S353N |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,863,000 (GRCm39) |
D102V |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,972,686 (GRCm39) |
E2120G |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,267 (GRCm39) |
C223* |
probably null |
Het |
| Or5p79 |
A |
G |
7: 108,221,654 (GRCm39) |
I212V |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,299,463 (GRCm39) |
V306A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,510 (GRCm39) |
T297S |
probably benign |
Het |
| Pdcd2l |
A |
C |
7: 33,892,356 (GRCm39) |
L171R |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,113 (GRCm39) |
S154P |
probably benign |
Het |
| Prc1 |
T |
G |
7: 79,962,047 (GRCm39) |
M515R |
probably benign |
Het |
| Rbm34 |
A |
G |
8: 127,696,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Samsn1 |
T |
G |
16: 75,673,457 (GRCm39) |
T140P |
probably damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,556,940 (GRCm39) |
V379M |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,686,651 (GRCm39) |
R2298* |
probably null |
Het |
| Trim10 |
G |
A |
17: 37,187,890 (GRCm39) |
V369M |
probably damaging |
Het |
| Trpv6 |
T |
C |
6: 41,599,901 (GRCm39) |
N585S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,586,617 (GRCm39) |
D21765N |
possibly damaging |
Het |
| Ubxn6 |
A |
G |
17: 56,376,189 (GRCm39) |
L349P |
probably damaging |
Het |
| Vdac3 |
A |
T |
8: 23,077,575 (GRCm39) |
S37R |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,720 (GRCm39) |
L275F |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,101,375 (GRCm39) |
I964N |
probably damaging |
Het |
| Zdhhc22 |
A |
G |
12: 87,030,396 (GRCm39) |
F184S |
possibly damaging |
Het |
| Zswim4 |
T |
C |
8: 84,939,354 (GRCm39) |
T843A |
probably damaging |
Het |
|
| Other mutations in Zfp512 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Zfp512
|
APN |
5 |
31,630,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Zfp512
|
APN |
5 |
31,628,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Zfp512
|
UTSW |
5 |
31,634,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2054:Zfp512
|
UTSW |
5 |
31,622,793 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2228:Zfp512
|
UTSW |
5 |
31,622,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Zfp512
|
UTSW |
5 |
31,622,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2982:Zfp512
|
UTSW |
5 |
31,634,122 (GRCm39) |
splice site |
probably null |
|
|
R3855:Zfp512
|
UTSW |
5 |
31,637,593 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3857:Zfp512
|
UTSW |
5 |
31,630,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3858:Zfp512
|
UTSW |
5 |
31,630,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Zfp512
|
UTSW |
5 |
31,637,570 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4827:Zfp512
|
UTSW |
5 |
31,630,158 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4915:Zfp512
|
UTSW |
5 |
31,634,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Zfp512
|
UTSW |
5 |
31,634,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Zfp512
|
UTSW |
5 |
31,637,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Zfp512
|
UTSW |
5 |
31,623,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Zfp512
|
UTSW |
5 |
31,630,883 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8485:Zfp512
|
UTSW |
5 |
31,637,401 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8513:Zfp512
|
UTSW |
5 |
31,637,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8768:Zfp512
|
UTSW |
5 |
31,630,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8795:Zfp512
|
UTSW |
5 |
31,634,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Zfp512
|
UTSW |
5 |
31,637,533 (GRCm39) |
nonsense |
probably null |
|
|
R9214:Zfp512
|
UTSW |
5 |
31,637,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Zfp512
|
UTSW |
5 |
31,628,359 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9551:Zfp512
|
UTSW |
5 |
31,623,676 (GRCm39) |
missense |
probably benign |
|
|
R9552:Zfp512
|
UTSW |
5 |
31,623,676 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAAGTTTCTCCAGGCTG -3'
(R):5'- TTCCACAGGACTGAGCGAAAG -3'
Sequencing Primer
(F):5'- AAGTTTCTCCAGGCTGTTCTG -3'
(R):5'- CTGAGCGAAAGGGCACG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation