Incidental Mutation 'R0067:Zzz3'
ID |
59632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zzz3
|
Ensembl Gene |
ENSMUSG00000039068 |
Gene Name |
zinc finger, ZZ domain containing 3 |
Synonyms |
6430567E01Rik, 3110065C23Rik |
MMRRC Submission |
038358-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0067 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152101110-152168463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152134040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 366
(D366G)
|
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: D366G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068 AA Change: D366G
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: D366G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068 AA Change: D366G
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: D366G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068 AA Change: D366G
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 |
0.1042 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
Adamts9 |
T |
A |
6: 92,867,148 (GRCm39) |
K79N |
probably damaging |
Het |
AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
Cep97 |
A |
T |
16: 55,735,924 (GRCm39) |
N291K |
possibly damaging |
Het |
Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
Coq8b |
T |
C |
7: 26,932,906 (GRCm39) |
L5P |
possibly damaging |
Het |
Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,040,313 (GRCm39) |
V119A |
possibly damaging |
Het |
Eml1 |
A |
G |
12: 108,429,786 (GRCm39) |
D23G |
possibly damaging |
Het |
Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
Glo1 |
A |
T |
17: 30,813,245 (GRCm39) |
|
probably null |
Het |
Gm11360 |
T |
A |
13: 28,140,214 (GRCm39) |
M26K |
probably benign |
Het |
Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
Gypa |
A |
G |
8: 81,229,710 (GRCm39) |
H102R |
possibly damaging |
Het |
Hdac4 |
G |
A |
1: 91,957,706 (GRCm39) |
H103Y |
probably damaging |
Het |
Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
Hunk |
A |
G |
16: 90,244,200 (GRCm39) |
D110G |
probably damaging |
Het |
L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
Mc5r |
T |
A |
18: 68,472,637 (GRCm39) |
M332K |
probably damaging |
Het |
Memo1 |
A |
G |
17: 74,532,453 (GRCm39) |
V185A |
probably damaging |
Het |
Mtrex |
C |
T |
13: 113,023,396 (GRCm39) |
V727I |
probably benign |
Het |
Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
Myh14 |
G |
A |
7: 44,272,551 (GRCm39) |
T1418I |
probably benign |
Het |
Pbk |
G |
A |
14: 66,052,675 (GRCm39) |
V173I |
possibly damaging |
Het |
Plekha5 |
C |
T |
6: 140,470,629 (GRCm39) |
T90I |
probably damaging |
Het |
Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
Rasgrp1 |
C |
A |
2: 117,125,301 (GRCm39) |
R246S |
probably damaging |
Het |
Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
A |
12: 100,582,342 (GRCm39) |
I177F |
probably damaging |
Het |
Rtn2 |
T |
A |
7: 19,028,396 (GRCm39) |
|
probably benign |
Het |
Satb1 |
T |
C |
17: 52,111,364 (GRCm39) |
T165A |
probably damaging |
Het |
Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
Slc36a2 |
A |
G |
11: 55,053,466 (GRCm39) |
|
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Sp140l2 |
T |
A |
1: 85,247,773 (GRCm39) |
N5Y |
probably benign |
Het |
Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
Stkld1 |
A |
T |
2: 26,839,352 (GRCm39) |
E339D |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
Tie1 |
A |
G |
4: 118,333,477 (GRCm39) |
|
probably benign |
Het |
Trak1 |
G |
C |
9: 121,301,973 (GRCm39) |
V910L |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,324,131 (GRCm39) |
V326A |
probably benign |
Het |
Tshr |
A |
G |
12: 91,472,057 (GRCm39) |
T136A |
probably damaging |
Het |
Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,884,708 (GRCm39) |
R65C |
probably null |
Het |
Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
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 |
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 |
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'- ACCTGTGGAACGACGAAATCAGC -3'
(R):5'- ACTGGCACTCTCTTTGGCAGATG -3'
Sequencing Primer
(F):5'- TGACTGCCGAGTCAGCTTC -3'
(R):5'- CATCTTGAGGAACTTCGGCAG -3'
|
Posted On |
2013-07-11 |