Incidental Mutation 'R0536:Zzz3'
| ID |
49452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zzz3
|
| Ensembl Gene |
ENSMUSG00000039068 |
| Gene Name |
zinc finger, ZZ domain containing 3 |
| Synonyms |
3110065C23Rik, 6430567E01Rik |
| MMRRC Submission |
038728-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152395473-152462826 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 152448828 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 572
(I572S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
| AlphaFold |
Q6KAQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089982
AA Change: I572S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: I572S
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
657 |
711 |
1.42e-9 |
SMART |
|
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
814 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
823 |
871 |
6.46e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106100
AA Change: I572S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: I572S
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
658 |
712 |
1.42e-9 |
SMART |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106101
AA Change: I572S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: I572S
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
658 |
712 |
1.42e-9 |
SMART |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106103
AA Change: I71S
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: I71S
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
157 |
211 |
1.42e-9 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
323 |
371 |
6.46e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200570
AA Change: I76S
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: I76S
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
161 |
215 |
1.42e-9 |
SMART |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
ZnF_ZZ
|
327 |
375 |
6.46e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.5570 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,280,516 |
|
probably benign |
Het |
| Agrn |
A |
T |
4: 156,179,553 |
D84E |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,514,024 |
S308P |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,307,508 |
|
probably null |
Het |
| AW209491 |
A |
G |
13: 14,636,973 |
Y137C |
probably damaging |
Het |
| Chst9 |
G |
A |
18: 15,495,330 |
|
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,066,482 |
T122A |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,304,028 |
S139P |
possibly damaging |
Het |
| Ikzf4 |
T |
A |
10: 128,641,249 |
E64D |
probably benign |
Het |
| Kif21a |
C |
A |
15: 90,959,683 |
|
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,670,210 |
R5Q |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,525,894 |
R2036C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,715,532 |
V311D |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,258,664 |
S64G |
probably benign |
Het |
| Mylk |
T |
C |
16: 35,000,387 |
V1903A |
possibly damaging |
Het |
| Naa30 |
C |
T |
14: 49,173,077 |
A154V |
possibly damaging |
Het |
| Olfr617 |
T |
C |
7: 103,584,261 |
S80P |
probably damaging |
Het |
| Olfr705 |
T |
A |
7: 106,714,321 |
Y120F |
probably damaging |
Het |
| Olfr938 |
G |
T |
9: 39,078,329 |
Q139K |
probably benign |
Het |
| Pgm3 |
C |
T |
9: 86,567,536 |
V144M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,443,594 |
V1007D |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,826,181 |
S211C |
probably damaging |
Het |
| Setx |
T |
C |
2: 29,158,248 |
Y1954H |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,802,698 |
Q1162* |
probably null |
Het |
| Sptbn2 |
T |
A |
19: 4,726,690 |
D255E |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,227,198 |
E597G |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,239,964 |
A436T |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,157,408 |
G574D |
probably damaging |
Het |
|
| Other mutations in Zzz3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00691:Zzz3
|
APN |
3 |
152428514 |
missense |
probably benign |
0.16 |
|
IGL00707:Zzz3
|
APN |
3 |
152449043 |
nonsense |
probably null |
|
|
IGL00983:Zzz3
|
APN |
3 |
152455810 |
splice site |
probably benign |
|
|
IGL01586:Zzz3
|
APN |
3 |
152455839 |
missense |
possibly damaging |
0.80 |
|
IGL01973:Zzz3
|
APN |
3 |
152428370 |
missense |
probably benign |
0.00 |
|
IGL02002:Zzz3
|
APN |
3 |
152451369 |
missense |
probably damaging |
0.98 |
|
IGL02009:Zzz3
|
APN |
3 |
152428115 |
missense |
possibly damaging |
0.80 |
|
IGL02260:Zzz3
|
APN |
3 |
152452083 |
missense |
probably benign |
0.04 |
|
IGL02336:Zzz3
|
APN |
3 |
152428059 |
missense |
possibly damaging |
0.74 |
|
IGL02454:Zzz3
|
APN |
3 |
152428574 |
missense |
probably benign |
0.03 |
|
IGL02519:Zzz3
|
APN |
3 |
152427390 |
missense |
probably damaging |
1.00 |
|
R0067:Zzz3
|
UTSW |
3 |
152428403 |
missense |
possibly damaging |
0.88 |
|
R0067:Zzz3
|
UTSW |
3 |
152428403 |
missense |
possibly damaging |
0.88 |
|
R0314:Zzz3
|
UTSW |
3 |
152427448 |
missense |
probably benign |
0.00 |
|
R1706:Zzz3
|
UTSW |
3 |
152449098 |
missense |
probably damaging |
1.00 |
|
R2869:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
|
R2870:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
|
R2871:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
|
R2872:Zzz3
|
UTSW |
3 |
152446844 |
synonymous |
silent |
|
|
R3927:Zzz3
|
UTSW |
3 |
152455862 |
missense |
probably damaging |
1.00 |
|
R4195:Zzz3
|
UTSW |
3 |
152428465 |
missense |
probably benign |
0.02 |
|
R4768:Zzz3
|
UTSW |
3 |
152448783 |
missense |
probably damaging |
1.00 |
|
R5248:Zzz3
|
UTSW |
3 |
152427545 |
missense |
probably damaging |
0.99 |
|
R5566:Zzz3
|
UTSW |
3 |
152455824 |
missense |
probably damaging |
1.00 |
|
R5752:Zzz3
|
UTSW |
3 |
152452122 |
missense |
possibly damaging |
0.48 |
|
R5782:Zzz3
|
UTSW |
3 |
152428100 |
missense |
possibly damaging |
0.69 |
|
R5884:Zzz3
|
UTSW |
3 |
152450658 |
missense |
probably damaging |
1.00 |
|
R6008:Zzz3
|
UTSW |
3 |
152428151 |
missense |
probably benign |
0.01 |
|
R6155:Zzz3
|
UTSW |
3 |
152427682 |
missense |
possibly damaging |
0.57 |
|
R6557:Zzz3
|
UTSW |
3 |
152428460 |
missense |
probably damaging |
1.00 |
|
R6865:Zzz3
|
UTSW |
3 |
152428053 |
missense |
probably benign |
0.01 |
|
R7344:Zzz3
|
UTSW |
3 |
152452099 |
missense |
probably damaging |
0.98 |
|
R7588:Zzz3
|
UTSW |
3 |
152422768 |
missense |
possibly damaging |
0.85 |
|
R7636:Zzz3
|
UTSW |
3 |
152427652 |
missense |
probably benign |
|
|
R7732:Zzz3
|
UTSW |
3 |
152448842 |
missense |
probably damaging |
1.00 |
|
R8157:Zzz3
|
UTSW |
3 |
152449648 |
missense |
probably null |
0.71 |
|
R8490:Zzz3
|
UTSW |
3 |
152428653 |
nonsense |
probably null |
|
|
R8926:Zzz3
|
UTSW |
3 |
152427892 |
missense |
possibly damaging |
0.76 |
|
R9143:Zzz3
|
UTSW |
3 |
152458271 |
missense |
probably benign |
0.04 |
|
R9243:Zzz3
|
UTSW |
3 |
152428283 |
missense |
probably damaging |
1.00 |
|
X0018:Zzz3
|
UTSW |
3 |
152428733 |
missense |
possibly damaging |
0.88 |
|
Z1176:Zzz3
|
UTSW |
3 |
152449097 |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACTCTGCATCGCTGCACAC -3'
(R):5'- TTTTGGTCTAGCGGGCAACCCTAC -3'
Sequencing Primer
(F):5'- CACGTCGTATTTAGCACTCTATGAG -3'
(R):5'- cgggcaaccctactaaaaatc -3'
|
| Posted On |
2013-06-12 |
