Incidental Mutation 'R7636:Zzz3'
| ID |
589949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zzz3
|
| Ensembl Gene |
ENSMUSG00000039068 |
| Gene Name |
zinc finger, ZZ domain containing 3 |
| Synonyms |
6430567E01Rik, 3110065C23Rik |
| MMRRC Submission |
045722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 152133289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 116
(A116T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
| AlphaFold |
Q6KAQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089982
AA Change: A116T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: A116T
| 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: A116T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: A116T
| 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: A116T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: A116T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
C |
T |
16: 16,935,701 (GRCm39) |
E199K |
possibly damaging |
Het |
| Akap13 |
C |
A |
7: 75,259,621 (GRCm39) |
N748K |
probably benign |
Het |
| Aldh16a1 |
G |
T |
7: 44,796,955 (GRCm39) |
P58T |
unknown |
Het |
| Amhr2 |
T |
A |
15: 102,360,893 (GRCm39) |
C343S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,380,239 (GRCm39) |
M2483K |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,513,048 (GRCm39) |
L649* |
probably null |
Het |
| Apob |
T |
C |
12: 8,059,516 (GRCm39) |
I2666T |
possibly damaging |
Het |
| C1ql3 |
A |
T |
2: 13,015,621 (GRCm39) |
V13E |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,358,344 (GRCm39) |
I384V |
probably benign |
Het |
| Cimip2a |
A |
T |
2: 25,108,832 (GRCm39) |
H7L |
probably damaging |
Het |
| Clcn1 |
A |
T |
6: 42,268,268 (GRCm39) |
K147* |
probably null |
Het |
| Ctnna1 |
T |
A |
18: 35,356,526 (GRCm39) |
N398K |
possibly damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,286,605 (GRCm39) |
K176M |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,075,327 (GRCm39) |
S502T |
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,376,450 (GRCm39) |
D388N |
probably damaging |
Het |
| Fbxl15 |
G |
A |
19: 46,317,614 (GRCm39) |
E99K |
probably benign |
Het |
| Fbxw2 |
T |
C |
2: 34,702,956 (GRCm39) |
T186A |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,668 (GRCm39) |
M1280L |
probably benign |
Het |
| Gbgt1 |
T |
A |
2: 28,395,326 (GRCm39) |
D321E |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,700,041 (GRCm39) |
T244S |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,934,979 (GRCm39) |
G1675W |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 51,999,341 (GRCm39) |
L287F |
probably damaging |
Het |
| Hfm1 |
C |
A |
5: 107,065,332 (GRCm39) |
A116S |
probably benign |
Het |
| Insr |
A |
G |
8: 3,308,709 (GRCm39) |
I109T |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,144,176 (GRCm39) |
I688V |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,088,042 (GRCm39) |
M49T |
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,893,787 (GRCm39) |
Y496C |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,791,332 (GRCm39) |
|
probably null |
Het |
| Megf10 |
T |
A |
18: 57,410,061 (GRCm39) |
I614N |
possibly damaging |
Het |
| Mkx |
A |
G |
18: 7,000,630 (GRCm39) |
I104T |
possibly damaging |
Het |
| Mrgpra4 |
C |
A |
7: 47,630,721 (GRCm39) |
L293F |
possibly damaging |
Het |
| Olfm2 |
A |
G |
9: 20,579,593 (GRCm39) |
V386A |
possibly damaging |
Het |
| Or2w3b |
A |
T |
11: 58,623,273 (GRCm39) |
N239K |
possibly damaging |
Het |
| Or4a15 |
A |
T |
2: 89,193,583 (GRCm39) |
Y63* |
probably null |
Het |
| Or52s6 |
C |
A |
7: 103,092,040 (GRCm39) |
D97Y |
probably damaging |
Het |
| Pkd2l1 |
G |
T |
19: 44,179,870 (GRCm39) |
D113E |
possibly damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,931,317 (GRCm39) |
I39K |
possibly damaging |
Het |
| Rab1b |
A |
T |
19: 5,150,810 (GRCm39) |
V99E |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,597,586 (GRCm39) |
L140Q |
probably damaging |
Het |
| Repin1 |
T |
C |
6: 48,573,299 (GRCm39) |
F76S |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,360,615 (GRCm39) |
D9G |
|
Het |
| Scn3a |
A |
G |
2: 65,328,033 (GRCm39) |
L819P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,574,172 (GRCm39) |
N150K |
possibly damaging |
Het |
| Sh2d3c |
T |
C |
2: 32,615,023 (GRCm39) |
S38P |
probably benign |
Het |
| Sin3b |
A |
T |
8: 73,474,362 (GRCm39) |
K549* |
probably null |
Het |
| Sorl1 |
A |
G |
9: 42,003,630 (GRCm39) |
F222S |
possibly damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,130,973 (GRCm39) |
D679V |
probably benign |
Het |
| Tmem147 |
A |
T |
7: 30,427,726 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem179 |
C |
T |
12: 112,477,177 (GRCm39) |
|
probably null |
Het |
| Tubg2 |
A |
T |
11: 101,050,913 (GRCm39) |
I213F |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,441 (GRCm39) |
I1497T |
probably benign |
Het |
| Zfp128 |
A |
T |
7: 12,624,039 (GRCm39) |
M136L |
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 |
|
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'- TAGCATTGCTCACCCAGAAG -3'
(R):5'- GACATCGACAAGCTCGTTTAG -3'
Sequencing Primer
(F):5'- CTTCTCATTCTCAAGTACGATCAAG -3'
(R):5'- AGCCCCTTGAAAGTCTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation