Incidental Mutation 'R3927:Zzz3'
| ID |
308319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zzz3
|
| Ensembl Gene |
ENSMUSG00000039068 |
| Gene Name |
zinc finger, ZZ domain containing 3 |
| Synonyms |
6430567E01Rik, 3110065C23Rik |
| MMRRC Submission |
040822-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152161499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 298
(Y298H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
| AlphaFold |
Q6KAQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089982
AA Change: Y798H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: Y798H
| 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: Y799H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: Y799H
| 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: Y799H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: Y799H
| 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: ENSMUST00000106103
AA Change: Y298H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: Y298H
| 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: ENSMUST00000135044
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200570
AA Change: Y302H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: Y302H
| 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 |
0.2487 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,616 (GRCm39) |
S303G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
| Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
| Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
| Meis3 |
A |
G |
7: 15,911,419 (GRCm39) |
T39A |
probably benign |
Het |
| Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
| Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
| Pacsin3 |
C |
T |
2: 91,093,286 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
| Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
| Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
| Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,678 (GRCm39) |
L382P |
probably damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,436,723 (GRCm39) |
|
probably null |
Het |
| Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,880,109 (GRCm39) |
N477K |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
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 |
|
|
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 |
|
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'- AGGCACTGTAGCTCATCTGAG -3'
(R):5'- CTCGGTGCTAGGAGATTTCAG -3'
Sequencing Primer
(F):5'- TGCCTGTAAACTCAGTGCAG -3'
(R):5'- AGGAGATTTCAGAGTTGGATAATCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation