Incidental Mutation 'R6008:Zzz3'
ID |
479583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zzz3
|
Ensembl Gene |
ENSMUSG00000039068 |
Gene Name |
zinc finger, ZZ domain containing 3 |
Synonyms |
6430567E01Rik, 3110065C23Rik |
MMRRC Submission |
044185-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6008 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152133788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 282
(V282A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q6KAQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089982
AA Change: V282A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: V282A
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: V282A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: V282A
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: V282A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: V282A
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 |
|
Meta Mutation Damage Score |
0.0699 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
G |
14: 118,727,978 (GRCm39) |
L1268P |
possibly damaging |
Het |
Acot3 |
T |
A |
12: 84,103,860 (GRCm39) |
V223E |
probably damaging |
Het |
Afap1 |
T |
G |
5: 36,154,895 (GRCm39) |
S680A |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,116,672 (GRCm39) |
A801V |
probably damaging |
Het |
Atp8b1 |
G |
T |
18: 64,710,687 (GRCm39) |
T155K |
probably damaging |
Het |
Bard1 |
C |
A |
1: 71,069,909 (GRCm39) |
V690F |
possibly damaging |
Het |
Btnl9 |
C |
A |
11: 49,073,792 (GRCm39) |
|
probably null |
Het |
C1rl |
A |
G |
6: 124,470,147 (GRCm39) |
N13S |
probably benign |
Het |
Cad |
C |
A |
5: 31,226,456 (GRCm39) |
T1166K |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,393,334 (GRCm39) |
M405K |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,825,944 (GRCm39) |
|
probably null |
Het |
Ctnna2 |
A |
G |
6: 76,892,811 (GRCm39) |
L792P |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,438,929 (GRCm39) |
V1099D |
possibly damaging |
Het |
Dnai2 |
A |
G |
11: 114,643,816 (GRCm39) |
N482S |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,583,890 (GRCm39) |
T184A |
probably damaging |
Het |
Ear2 |
T |
A |
14: 44,340,546 (GRCm39) |
L68H |
probably damaging |
Het |
Edn3 |
A |
G |
2: 174,621,525 (GRCm39) |
T149A |
probably benign |
Het |
Erf |
C |
T |
7: 24,945,041 (GRCm39) |
V131M |
probably benign |
Het |
Esp34 |
A |
G |
17: 38,865,118 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golga1 |
A |
G |
2: 38,937,099 (GRCm39) |
V161A |
probably benign |
Het |
Gpr17 |
T |
A |
18: 32,080,530 (GRCm39) |
T178S |
probably benign |
Het |
Gsg1l2 |
T |
A |
11: 67,665,537 (GRCm39) |
I35N |
possibly damaging |
Het |
Hmgn3 |
T |
A |
9: 82,994,284 (GRCm39) |
T46S |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,325,717 (GRCm39) |
I4709L |
probably benign |
Het |
Ifna9 |
A |
T |
4: 88,510,600 (GRCm39) |
L8Q |
probably null |
Het |
Iftap |
A |
T |
2: 101,413,898 (GRCm39) |
M133K |
possibly damaging |
Het |
Kpna4 |
T |
C |
3: 69,034,066 (GRCm39) |
E125G |
probably null |
Het |
Lrriq1 |
A |
G |
10: 103,006,325 (GRCm39) |
S1267P |
probably damaging |
Het |
Mab21l1 |
G |
T |
3: 55,690,518 (GRCm39) |
C35F |
possibly damaging |
Het |
Map3k2 |
A |
G |
18: 32,336,104 (GRCm39) |
D97G |
probably damaging |
Het |
Matcap2 |
G |
A |
9: 22,335,422 (GRCm39) |
W13* |
probably null |
Het |
Mdn1 |
T |
A |
4: 32,741,073 (GRCm39) |
I3799N |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,299,158 (GRCm39) |
R1959C |
probably damaging |
Het |
Mroh1 |
A |
T |
15: 76,335,557 (GRCm39) |
H1400L |
possibly damaging |
Het |
Mroh4 |
T |
A |
15: 74,497,321 (GRCm39) |
K167* |
probably null |
Het |
Mroh8 |
A |
G |
2: 157,094,984 (GRCm39) |
I334T |
probably benign |
Het |
Or51a25 |
T |
A |
7: 102,373,574 (GRCm39) |
Y41F |
probably damaging |
Het |
Phf11d |
T |
A |
14: 59,602,898 (GRCm39) |
|
probably benign |
Het |
Phf21a |
C |
T |
2: 92,182,097 (GRCm39) |
T342I |
possibly damaging |
Het |
Pira12 |
G |
T |
7: 3,897,599 (GRCm39) |
H499N |
probably damaging |
Het |
Plekhh3 |
T |
C |
11: 101,055,591 (GRCm39) |
E483G |
possibly damaging |
Het |
Ppp1r3b |
G |
A |
8: 35,851,355 (GRCm39) |
A65T |
probably damaging |
Het |
Pramel30 |
C |
T |
4: 144,057,777 (GRCm39) |
T128I |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,496,158 (GRCm39) |
V961A |
probably damaging |
Het |
Scgb2b27 |
T |
C |
7: 33,711,561 (GRCm39) |
E96G |
probably benign |
Het |
Sel1l2 |
T |
A |
2: 140,086,025 (GRCm39) |
E522V |
probably damaging |
Het |
Socs4 |
T |
G |
14: 47,527,618 (GRCm39) |
C184W |
probably damaging |
Het |
Spdye4c |
A |
T |
2: 128,438,553 (GRCm39) |
I304F |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,789,306 (GRCm39) |
I1249V |
possibly damaging |
Het |
Sys1 |
T |
C |
2: 164,306,507 (GRCm39) |
S154P |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,755,530 (GRCm39) |
Q275R |
possibly damaging |
Het |
Tas2r107 |
A |
G |
6: 131,636,875 (GRCm39) |
V58A |
possibly damaging |
Het |
Thada |
T |
A |
17: 84,744,062 (GRCm39) |
I749F |
probably damaging |
Het |
Tubb1 |
T |
A |
2: 174,299,567 (GRCm39) |
H416Q |
probably benign |
Het |
Vmn2r109 |
G |
A |
17: 20,760,981 (GRCm39) |
T792I |
probably damaging |
Het |
Zfp988 |
A |
G |
4: 147,416,259 (GRCm39) |
Q231R |
probably benign |
Het |
Zmynd8 |
T |
C |
2: 165,684,707 (GRCm39) |
I182V |
possibly 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 |
|
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 |
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'- TGTGATGACTGTCAGCCTG -3'
(R):5'- AGACTGGCATGCGTTCAGAAC -3'
Sequencing Primer
(F):5'- TCAGCCTGACGGGAACAC -3'
(R):5'- ATGCGTTCAGAACCCGTGTC -3'
|
Posted On |
2017-06-26 |