Incidental Mutation 'R5782:Zzz3'
ID |
447781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zzz3
|
Ensembl Gene |
ENSMUSG00000039068 |
Gene Name |
zinc finger, ZZ domain containing 3 |
Synonyms |
6430567E01Rik, 3110065C23Rik |
MMRRC Submission |
043379-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5782 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152133737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 265
(E265G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089982
AA Change: E265G
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: E265G
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 |
possibly damaging
Transcript: ENSMUST00000106100
AA Change: E265G
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: E265G
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 |
possibly damaging
Transcript: ENSMUST00000106101
AA Change: E265G
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: E265G
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 |
noncoding transcript
Transcript: ENSMUST00000138115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150802
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197987
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
A |
T |
17: 33,652,735 (GRCm39) |
Q265L |
probably benign |
Het |
Adamtsl3 |
T |
A |
7: 82,189,494 (GRCm39) |
|
probably null |
Het |
Agt |
A |
T |
8: 125,283,870 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
A |
G |
8: 123,626,756 (GRCm39) |
L142P |
probably damaging |
Het |
Arhgef19 |
C |
A |
4: 140,983,623 (GRCm39) |
Q719K |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,874,466 (GRCm39) |
V569A |
probably benign |
Het |
Atrnl1 |
G |
T |
19: 57,741,718 (GRCm39) |
W1159L |
possibly damaging |
Het |
Atxn2 |
T |
C |
5: 121,935,373 (GRCm39) |
Y325H |
probably damaging |
Het |
Brwd1 |
A |
T |
16: 95,844,243 (GRCm39) |
Y770* |
probably null |
Het |
Cdc20 |
T |
C |
4: 118,290,239 (GRCm39) |
E474G |
probably benign |
Het |
Cdk5rap3 |
A |
G |
11: 96,802,412 (GRCm39) |
L254P |
probably benign |
Het |
Cep83 |
A |
T |
10: 94,584,894 (GRCm39) |
N333I |
probably damaging |
Het |
Cox4i2 |
A |
C |
2: 152,606,731 (GRCm39) |
D150A |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,770,921 (GRCm39) |
I314M |
probably damaging |
Het |
Cuedc1 |
A |
G |
11: 88,060,858 (GRCm39) |
Y67C |
probably damaging |
Het |
Cyp2j9 |
C |
T |
4: 96,462,142 (GRCm39) |
V380I |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,525,833 (GRCm39) |
N302S |
probably benign |
Het |
Foxa1 |
T |
A |
12: 57,589,302 (GRCm39) |
H306L |
probably benign |
Het |
Gse1 |
T |
C |
8: 121,293,260 (GRCm39) |
S204P |
probably damaging |
Het |
Hspa13 |
C |
A |
16: 75,554,985 (GRCm39) |
R367L |
probably damaging |
Het |
Kcnk2 |
T |
G |
1: 188,988,776 (GRCm39) |
D267A |
probably damaging |
Het |
Kctd18 |
A |
G |
1: 57,998,396 (GRCm39) |
Y68H |
probably damaging |
Het |
Khdc4 |
T |
G |
3: 88,618,985 (GRCm39) |
V563G |
probably damaging |
Het |
Klf7 |
C |
T |
1: 64,081,570 (GRCm39) |
E253K |
possibly damaging |
Het |
Lcn12 |
A |
T |
2: 25,383,769 (GRCm39) |
F34I |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,586,386 (GRCm39) |
R401W |
probably damaging |
Het |
Lzts1 |
A |
T |
8: 69,593,350 (GRCm39) |
S86T |
probably benign |
Het |
Mtres1 |
T |
C |
10: 43,408,899 (GRCm39) |
I81M |
probably benign |
Het |
Mtus1 |
T |
A |
8: 41,535,764 (GRCm39) |
I651F |
probably damaging |
Het |
Myl2 |
T |
A |
5: 122,242,933 (GRCm39) |
F106L |
probably damaging |
Het |
Neb |
T |
A |
2: 52,154,059 (GRCm39) |
K2351* |
probably null |
Het |
Or14c45 |
T |
A |
7: 86,176,421 (GRCm39) |
I152N |
probably damaging |
Het |
Or52e5 |
T |
C |
7: 104,718,956 (GRCm39) |
I94T |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Parg |
A |
T |
14: 31,996,862 (GRCm39) |
R318* |
probably null |
Het |
Pcdhga3 |
C |
T |
18: 37,809,353 (GRCm39) |
S602F |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,480,223 (GRCm39) |
V2028A |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,128,824 (GRCm39) |
T3960A |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,759,233 (GRCm39) |
H81Q |
possibly damaging |
Het |
Psma6 |
A |
G |
12: 55,457,041 (GRCm39) |
N109S |
possibly damaging |
Het |
Ptpro |
A |
T |
6: 137,376,496 (GRCm39) |
I659F |
possibly damaging |
Het |
Rap1gds1 |
C |
G |
3: 138,664,840 (GRCm39) |
E288D |
possibly damaging |
Het |
Reln |
C |
T |
5: 22,223,054 (GRCm39) |
R993K |
probably benign |
Het |
Saxo1 |
T |
A |
4: 86,364,044 (GRCm39) |
L146F |
probably damaging |
Het |
Six4 |
A |
G |
12: 73,150,832 (GRCm39) |
V571A |
probably benign |
Het |
Slc2a10 |
C |
A |
2: 165,356,758 (GRCm39) |
Y139* |
probably null |
Het |
Slc34a1 |
A |
G |
13: 55,550,501 (GRCm39) |
I66V |
possibly damaging |
Het |
Slfn8 |
G |
T |
11: 82,907,867 (GRCm39) |
N46K |
probably damaging |
Het |
Smc6 |
G |
C |
12: 11,340,835 (GRCm39) |
A496P |
probably damaging |
Het |
Stk31 |
T |
G |
6: 49,446,070 (GRCm39) |
N902K |
probably benign |
Het |
Stk36 |
T |
A |
1: 74,644,584 (GRCm39) |
Y114N |
possibly damaging |
Het |
Sult2b1 |
C |
T |
7: 45,380,770 (GRCm39) |
V271M |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,542,246 (GRCm39) |
I1920V |
probably benign |
Het |
Trbc2 |
A |
G |
6: 41,523,871 (GRCm39) |
|
probably benign |
Het |
Trpc2 |
A |
G |
7: 101,733,186 (GRCm39) |
D419G |
possibly damaging |
Het |
Trpm7 |
T |
C |
2: 126,639,634 (GRCm39) |
N1654S |
probably benign |
Het |
Tsku |
A |
T |
7: 98,002,057 (GRCm39) |
D91E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,606,355 (GRCm39) |
R18151S |
probably damaging |
Het |
Tyr |
C |
T |
7: 87,142,224 (GRCm39) |
C112Y |
probably damaging |
Het |
Ubash3a |
G |
A |
17: 31,454,477 (GRCm39) |
G435S |
probably benign |
Het |
Vav1 |
T |
C |
17: 57,603,001 (GRCm39) |
I51T |
probably damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,949,253 (GRCm39) |
C558S |
probably damaging |
Het |
Zan |
C |
T |
5: 137,418,269 (GRCm39) |
C2943Y |
unknown |
Het |
Zfp1002 |
T |
C |
2: 150,097,438 (GRCm39) |
E25G |
probably benign |
Het |
Zfp267 |
T |
C |
3: 36,219,128 (GRCm39) |
S384P |
possibly damaging |
Het |
Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
Zfp575 |
C |
A |
7: 24,285,027 (GRCm39) |
G205C |
possibly damaging |
Het |
Zfp740 |
G |
T |
15: 102,116,801 (GRCm39) |
|
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 |
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'- GGGCCACTTAATGCTGCAGTAG -3'
(R):5'- ACTGCTCTTTGGAGGCACTG -3'
Sequencing Primer
(F):5'- CCACTTAATGCTGCAGTAGTAGAAG -3'
(R):5'- GAGGCACTGCTATCTCCCAC -3'
|
Posted On |
2016-12-15 |