Incidental Mutation 'R0931:Zfp324'
| ID |
80883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp324
|
| Ensembl Gene |
ENSMUSG00000004500 |
| Gene Name |
zinc finger protein 324 |
| Synonyms |
D430030K24Rik, ZF5128 |
| MMRRC Submission |
039075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0931 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12699765-12707749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12700185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 15
(I15V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038701]
[ENSMUST00000124387]
[ENSMUST00000128293]
[ENSMUST00000210619]
|
| AlphaFold |
Q78F42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038701
AA Change: I15V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041944
Gene: ENSMUSG00000004500
AA Change: I15V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
31 |
91 |
8.89e-30 |
SMART |
|
ZnF_C2H2
|
291 |
313 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
319 |
341 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
347 |
369 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
375 |
397 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
431 |
453 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
7.37e-4 |
SMART |
|
low complexity region
|
564 |
579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124387
AA Change: I15V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128293
AA Change: I15V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000124620
Gene: ENSMUSG00000004500
AA Change: I15V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
31 |
75 |
3.83e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210619
AA Change: I15V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,168,084 (GRCm39) |
A476T |
probably benign |
Het |
| Ajm1 |
T |
C |
2: 25,468,501 (GRCm39) |
E470G |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,339 (GRCm39) |
S118P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,728,041 (GRCm39) |
T85A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,566,530 (GRCm39) |
L824P |
probably damaging |
Het |
| Ccr1 |
C |
A |
9: 123,763,827 (GRCm39) |
K234N |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,235,757 (GRCm39) |
R203G |
probably damaging |
Het |
| Col8a1 |
A |
G |
16: 57,448,931 (GRCm39) |
I193T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,552,070 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
T |
C |
9: 54,675,717 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cspp1 |
A |
T |
1: 10,174,511 (GRCm39) |
R655W |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,287,818 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,772 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,771,921 (GRCm39) |
S583P |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,921,676 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,550 (GRCm39) |
S552P |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,543,751 (GRCm39) |
|
probably benign |
Het |
| Gss |
A |
T |
2: 155,409,609 (GRCm39) |
|
probably benign |
Het |
| Hdhd3 |
G |
A |
4: 62,417,757 (GRCm39) |
R140* |
probably null |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,142 (GRCm39) |
S360G |
possibly damaging |
Het |
| Klk1b4 |
T |
C |
7: 43,860,480 (GRCm39) |
L166P |
probably damaging |
Het |
| Klri1 |
A |
T |
6: 129,674,381 (GRCm39) |
|
probably benign |
Het |
| Mettl27 |
T |
C |
5: 134,963,285 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,675,354 (GRCm39) |
H193L |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,115 (GRCm39) |
|
probably benign |
Het |
| Or10ac1 |
C |
A |
6: 42,515,020 (GRCm39) |
R312L |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,736 (GRCm39) |
Y62* |
probably null |
Het |
| Papolg |
A |
G |
11: 23,832,257 (GRCm39) |
I177T |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,238 (GRCm39) |
V220A |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,341 (GRCm39) |
L234P |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,434,457 (GRCm39) |
M610K |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,484,047 (GRCm39) |
F3930S |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,440,944 (GRCm39) |
V997I |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,660,945 (GRCm39) |
|
probably benign |
Het |
| Ssu2 |
C |
A |
6: 112,361,359 (GRCm39) |
L32F |
probably damaging |
Het |
| Taar1 |
A |
T |
10: 23,797,181 (GRCm39) |
N293I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,611,846 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,325 (GRCm39) |
M389V |
possibly damaging |
Het |
| Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
|
| Other mutations in Zfp324 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Zfp324
|
APN |
7 |
12,703,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01943:Zfp324
|
APN |
7 |
12,702,713 (GRCm39) |
splice site |
probably benign |
|
|
IGL02668:Zfp324
|
APN |
7 |
12,704,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Zfp324
|
UTSW |
7 |
12,704,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1164:Zfp324
|
UTSW |
7 |
12,705,551 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1587:Zfp324
|
UTSW |
7 |
12,704,570 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1837:Zfp324
|
UTSW |
7 |
12,704,156 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1982:Zfp324
|
UTSW |
7 |
12,705,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2333:Zfp324
|
UTSW |
7 |
12,705,172 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3155:Zfp324
|
UTSW |
7 |
12,702,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Zfp324
|
UTSW |
7 |
12,704,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Zfp324
|
UTSW |
7 |
12,705,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Zfp324
|
UTSW |
7 |
12,703,300 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5970:Zfp324
|
UTSW |
7 |
12,703,293 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6767:Zfp324
|
UTSW |
7 |
12,704,527 (GRCm39) |
missense |
probably null |
0.13 |
|
R7007:Zfp324
|
UTSW |
7 |
12,705,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Zfp324
|
UTSW |
7 |
12,700,198 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7164:Zfp324
|
UTSW |
7 |
12,702,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7233:Zfp324
|
UTSW |
7 |
12,704,524 (GRCm39) |
nonsense |
probably null |
|
|
R9039:Zfp324
|
UTSW |
7 |
12,705,455 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9172:Zfp324
|
UTSW |
7 |
12,704,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Zfp324
|
UTSW |
7 |
12,705,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCCTGTTGGCTCATAGGCTGC -3'
(R):5'- AGACCTTACCCACTTGGCTGTCAC -3'
Sequencing Primer
(F):5'- TGCAGCGGAGACCGTTAG -3'
(R):5'- ACTTGGCTGTCACAAGTGAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation