Incidental Mutation 'R9143:Zzz3'
| ID |
694438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zzz3
|
| Ensembl Gene |
ENSMUSG00000039068 |
| Gene Name |
zinc finger, ZZ domain containing 3 |
| Synonyms |
6430567E01Rik, 3110065C23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152163908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 869
(I869T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045262]
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
| AlphaFold |
Q6KAQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045262
|
| SMART Domains |
Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_17
|
134 |
263 |
1.1e-8 |
PFAM |
|
Pfam:AAA_18
|
135 |
274 |
3e-10 |
PFAM |
|
Pfam:ADK
|
137 |
294 |
5.8e-35 |
PFAM |
|
Pfam:AAA_17
|
378 |
525 |
2.9e-8 |
PFAM |
|
Pfam:ADK
|
381 |
537 |
1.9e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089982
AA Change: I868T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: I868T
| 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 benign
Transcript: ENSMUST00000106100
AA Change: I869T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: I869T
| 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 benign
Transcript: ENSMUST00000106101
AA Change: I869T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: I869T
| 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 benign
Transcript: ENSMUST00000106103
AA Change: I368T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: I368T
| 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 |
probably benign
Transcript: ENSMUST00000200570
AA Change: I372T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: I372T
| 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 |
0.0578 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
C |
17: 48,452,605 (GRCm39) |
I111M |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,259,715 (GRCm39) |
I292V |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,509,408 (GRCm39) |
S379P |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,688 (GRCm39) |
H527Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,912,707 (GRCm39) |
I244F |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,428,964 (GRCm39) |
S449R |
probably damaging |
Het |
| Cngb3 |
T |
A |
4: 19,375,190 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,337,276 (GRCm39) |
|
probably benign |
Het |
| Dsp |
C |
A |
13: 38,377,337 (GRCm39) |
S1707R |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,347,004 (GRCm39) |
Q162L |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,502 (GRCm39) |
N69S |
probably benign |
Het |
| Galnt10 |
C |
T |
11: 57,612,146 (GRCm39) |
T62I |
probably benign |
Het |
| Gm19668 |
T |
C |
10: 77,634,960 (GRCm39) |
D3G |
unknown |
Het |
| Hace1 |
T |
A |
10: 45,562,764 (GRCm39) |
F760I |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,356,936 (GRCm39) |
Y65H |
probably damaging |
Het |
| Insl5 |
C |
A |
4: 102,883,841 (GRCm39) |
V27L |
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,715,930 (GRCm39) |
D425G |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,087,272 (GRCm39) |
K183R |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,525,456 (GRCm39) |
L84Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,835,750 (GRCm39) |
F1811I |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,062,883 (GRCm39) |
|
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,121,792 (GRCm39) |
S371P |
probably benign |
Het |
| Nin |
A |
G |
12: 70,137,349 (GRCm39) |
S76P |
|
Het |
| Nuak1 |
C |
T |
10: 84,213,951 (GRCm39) |
|
probably null |
Het |
| Or8b47 |
A |
T |
9: 38,427,917 (GRCm39) |
|
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,722 (GRCm39) |
I109F |
possibly damaging |
Het |
| Pld1 |
A |
G |
3: 28,132,643 (GRCm39) |
|
probably benign |
Het |
| Rcvrn |
T |
C |
11: 67,590,890 (GRCm39) |
F158S |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,885,409 (GRCm39) |
T200A |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,292,503 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,934,906 (GRCm39) |
T704M |
probably benign |
Het |
| Stxbp1 |
A |
G |
2: 32,688,157 (GRCm39) |
S503P |
probably damaging |
Het |
| Susd5 |
A |
T |
9: 113,924,879 (GRCm39) |
E254V |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,097,983 (GRCm39) |
S529P |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,310 (GRCm39) |
N392K |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,842,220 (GRCm39) |
L525P |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,514,824 (GRCm39) |
M1127V |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,900,705 (GRCm39) |
E585V |
probably benign |
Het |
| Usp19 |
T |
G |
9: 108,375,398 (GRCm39) |
L847R |
probably damaging |
Het |
| Vta1 |
T |
C |
10: 14,551,776 (GRCm39) |
H141R |
possibly damaging |
Het |
| Zfp950 |
G |
T |
19: 61,108,778 (GRCm39) |
P102T |
probably benign |
Het |
|
| Other mutations in Zzz3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00691:Zzz3
|
APN |
3 |
152,134,151 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL00707:Zzz3
|
APN |
3 |
152,154,680 (GRCm39) |
nonsense |
probably null |
|
|
IGL00983:Zzz3
|
APN |
3 |
152,161,447 (GRCm39) |
splice site |
probably benign |
|
|
IGL01586:Zzz3
|
APN |
3 |
152,161,476 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01973:Zzz3
|
APN |
3 |
152,134,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02002:Zzz3
|
APN |
3 |
152,157,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02009:Zzz3
|
APN |
3 |
152,133,752 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02260:Zzz3
|
APN |
3 |
152,157,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02336:Zzz3
|
APN |
3 |
152,133,696 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02454:Zzz3
|
APN |
3 |
152,134,211 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02519:Zzz3
|
APN |
3 |
152,133,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Zzz3
|
UTSW |
3 |
152,134,040 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0067:Zzz3
|
UTSW |
3 |
152,134,040 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0314:Zzz3
|
UTSW |
3 |
152,133,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0536:Zzz3
|
UTSW |
3 |
152,154,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1706:Zzz3
|
UTSW |
3 |
152,154,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
|
R2870:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
|
R2871:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
|
R2872:Zzz3
|
UTSW |
3 |
152,152,481 (GRCm39) |
synonymous |
silent |
|
|
R3927:Zzz3
|
UTSW |
3 |
152,161,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4195:Zzz3
|
UTSW |
3 |
152,134,102 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4768:Zzz3
|
UTSW |
3 |
152,154,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5248:Zzz3
|
UTSW |
3 |
152,133,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5566:Zzz3
|
UTSW |
3 |
152,161,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Zzz3
|
UTSW |
3 |
152,157,759 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5782:Zzz3
|
UTSW |
3 |
152,133,737 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5884:Zzz3
|
UTSW |
3 |
152,156,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Zzz3
|
UTSW |
3 |
152,133,788 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6155:Zzz3
|
UTSW |
3 |
152,133,319 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6557:Zzz3
|
UTSW |
3 |
152,134,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Zzz3
|
UTSW |
3 |
152,133,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7344:Zzz3
|
UTSW |
3 |
152,157,736 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7588:Zzz3
|
UTSW |
3 |
152,128,405 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7636:Zzz3
|
UTSW |
3 |
152,133,289 (GRCm39) |
missense |
probably benign |
|
|
R7732:Zzz3
|
UTSW |
3 |
152,154,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Zzz3
|
UTSW |
3 |
152,155,285 (GRCm39) |
missense |
probably null |
0.71 |
|
R8490:Zzz3
|
UTSW |
3 |
152,134,290 (GRCm39) |
nonsense |
probably null |
|
|
R8926:Zzz3
|
UTSW |
3 |
152,133,529 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9243:Zzz3
|
UTSW |
3 |
152,133,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Zzz3
|
UTSW |
3 |
152,133,468 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9540:Zzz3
|
UTSW |
3 |
152,156,306 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Zzz3
|
UTSW |
3 |
152,134,370 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Zzz3
|
UTSW |
3 |
152,154,734 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGATCTCAAGCAACTTTCTG -3'
(R):5'- CTGTACTGGACGAGAACACTC -3'
Sequencing Primer
(F):5'- GCAACTTTCTGTTAAAACTTTCTGAG -3'
(R):5'- ATGCTGTGAGTGTCCAAACC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation