Incidental Mutation 'R8157:Zzz3'
| ID |
633053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zzz3
|
| Ensembl Gene |
ENSMUSG00000039068 |
| Gene Name |
zinc finger, ZZ domain containing 3 |
| Synonyms |
6430567E01Rik, 3110065C23Rik |
| MMRRC Submission |
067583-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152155285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 645
(I645V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
| AlphaFold |
Q6KAQ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089982
AA Change: I644V
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: I644V
| 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 null
Transcript: ENSMUST00000106100
AA Change: I645V
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: I645V
| 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 null
Transcript: ENSMUST00000106101
AA Change: I645V
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: I645V
| 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 null
Transcript: ENSMUST00000106103
AA Change: I144V
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: I144V
| 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 null
Transcript: ENSMUST00000200570
AA Change: I148V
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: I148V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310011J03Rik |
T |
A |
10: 80,155,361 (GRCm39) |
R51W |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,197,453 (GRCm39) |
I326T |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,743,470 (GRCm39) |
K1096E |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,802,150 (GRCm39) |
V44A |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,014 (GRCm39) |
|
probably null |
Het |
| Atg2b |
A |
G |
12: 105,629,199 (GRCm39) |
M410T |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,165,936 (GRCm39) |
F228S |
possibly damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,226,753 (GRCm39) |
G407D |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,653,504 (GRCm39) |
N137K |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,798,683 (GRCm39) |
L438P |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,782 (GRCm39) |
S606P |
probably benign |
Het |
| Col11a2 |
G |
A |
17: 34,280,230 (GRCm39) |
G1193E |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,945,097 (GRCm39) |
S1006P |
possibly damaging |
Het |
| Ctsc |
A |
T |
7: 87,951,416 (GRCm39) |
D221V |
probably benign |
Het |
| Ctse |
T |
C |
1: 131,600,249 (GRCm39) |
Y333H |
probably damaging |
Het |
| Cyp2c23 |
T |
C |
19: 44,010,066 (GRCm39) |
N93S |
probably benign |
Het |
| Daam1 |
A |
T |
12: 71,999,263 (GRCm39) |
D633V |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 92,036,140 (GRCm39) |
R607H |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,713,606 (GRCm39) |
D192E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,001,473 (GRCm39) |
N3838K |
possibly damaging |
Het |
| Ephx2 |
A |
C |
14: 66,345,506 (GRCm39) |
S153A |
probably damaging |
Het |
| Eprs1 |
C |
A |
1: 185,130,591 (GRCm39) |
H651N |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,142,910 (GRCm39) |
D4313G |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,702,714 (GRCm39) |
K252R |
probably benign |
Het |
| Galt |
A |
T |
4: 41,757,226 (GRCm39) |
Q193L |
probably benign |
Het |
| Gm7356 |
T |
C |
17: 14,221,583 (GRCm39) |
K149E |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,838,073 (GRCm39) |
R696S |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,178,668 (GRCm39) |
I1088V |
probably benign |
Het |
| Igkv4-68 |
A |
T |
6: 69,282,306 (GRCm39) |
S14R |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
| Lrit3 |
T |
C |
3: 129,594,284 (GRCm39) |
T98A |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,409,728 (GRCm39) |
I165M |
probably benign |
Het |
| Mapre2 |
T |
A |
18: 23,991,218 (GRCm39) |
M162K |
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,778,279 (GRCm39) |
H454L |
probably damaging |
Het |
| Naa30 |
T |
A |
14: 49,410,865 (GRCm39) |
N264K |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,352 (GRCm39) |
V208A |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,762 (GRCm39) |
Y117* |
probably null |
Het |
| Osr2 |
T |
C |
15: 35,302,063 (GRCm39) |
I221T |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,415,850 (GRCm39) |
I425K |
probably benign |
Het |
| Pcdhb3 |
T |
G |
18: 37,436,292 (GRCm39) |
Y753D |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,208 (GRCm39) |
V734E |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,433,831 (GRCm39) |
L593I |
probably benign |
Het |
| Prag1 |
G |
A |
8: 36,614,393 (GRCm39) |
C1315Y |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,330 (GRCm39) |
S19P |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,002,539 (GRCm39) |
D1543V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,879,600 (GRCm39) |
N356S |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,321,690 (GRCm39) |
V497A |
possibly damaging |
Het |
| Saxo4 |
A |
T |
19: 10,455,629 (GRCm39) |
F207I |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,931,037 (GRCm39) |
H914R |
possibly damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,448 (GRCm39) |
A265V |
probably damaging |
Het |
| Tdrd9 |
C |
G |
12: 111,951,500 (GRCm39) |
L97V |
probably benign |
Het |
| Tle7 |
A |
G |
8: 110,835,493 (GRCm39) |
M24V |
probably benign |
Het |
| Trabd |
T |
A |
15: 88,970,024 (GRCm39) |
L340H |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,849,017 (GRCm39) |
W88R |
probably damaging |
Het |
| Txndc12 |
G |
T |
4: 108,710,419 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,523 (GRCm39) |
I35V |
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,012,994 (GRCm39) |
V277E |
probably damaging |
Het |
| Vmn2r72 |
G |
A |
7: 85,400,441 (GRCm39) |
H203Y |
probably benign |
Het |
| Zbtb7c |
A |
G |
18: 76,270,398 (GRCm39) |
E162G |
probably benign |
Het |
| Zfp93 |
T |
A |
7: 23,975,885 (GRCm39) |
C623* |
probably null |
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 |
|
R8490:Zzz3
|
UTSW |
3 |
152,134,290 (GRCm39) |
nonsense |
probably null |
|
|
R8926:Zzz3
|
UTSW |
3 |
152,133,529 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9143:Zzz3
|
UTSW |
3 |
152,163,908 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- TGGCCTTGTCTCAGTTGGAC -3'
(R):5'- AACAGCTTTGCTTGTCTTGAGG -3'
Sequencing Primer
(F):5'- GGACTGCTAGTTTTCAATTTGAACCC -3'
(R):5'- CACAGCTGCTTTTAAGAGTATCATCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation