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 |