Incidental Mutation 'ANU18:Zfp618'
| ID |
262531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp618
|
| Ensembl Gene |
ENSMUSG00000028358 |
| Gene Name |
zinc finger protein 618 |
| Synonyms |
Nedd10, 2810040O04Rik, D430033D05Rik, 2810031P15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
ANU18
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62883810-63057945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63051063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 615
(V615M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064814]
[ENSMUST00000107415]
|
| AlphaFold |
Q80YY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064814
AA Change: V522M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000069275
Gene: ENSMUSG00000028358
AA Change: V522M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
114 |
136 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
155 |
177 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
2.91e-2 |
SMART |
|
low complexity region
|
288 |
295 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
298 |
320 |
2.53e-2 |
SMART |
|
PDB:2BW3|A
|
377 |
690 |
5e-8 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107415
AA Change: V615M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
AA Change: V615M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
146 |
168 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
255 |
277 |
2.91e-2 |
SMART |
|
low complexity region
|
381 |
388 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
391 |
413 |
2.53e-2 |
SMART |
|
PDB:2BW3|A
|
479 |
783 |
9e-8 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
| Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,005,648 (GRCm39) |
T250A |
possibly damaging |
Het |
| Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
| Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,652 (GRCm39) |
L45P |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,059,568 (GRCm39) |
S111P |
probably benign |
Het |
| Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
| Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
| Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
| Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
| Lct |
T |
A |
1: 128,235,784 (GRCm39) |
R408* |
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
| Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
| Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
| Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
| Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
| Ngdn |
G |
T |
14: 55,254,571 (GRCm39) |
A41S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
| Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,068,274 (GRCm39) |
S368P |
probably benign |
Het |
| Pus7 |
A |
G |
5: 23,951,422 (GRCm39) |
|
probably null |
Het |
| Rab40b |
C |
G |
11: 121,248,788 (GRCm39) |
V156L |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
| Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,211,250 (GRCm39) |
I232V |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,032,786 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
| Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
|
| Other mutations in Zfp618 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01301:Zfp618
|
APN |
4 |
63,051,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01563:Zfp618
|
APN |
4 |
62,998,133 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01726:Zfp618
|
APN |
4 |
63,050,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02139:Zfp618
|
APN |
4 |
63,051,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02182:Zfp618
|
APN |
4 |
63,013,798 (GRCm39) |
splice site |
probably benign |
|
|
IGL02533:Zfp618
|
APN |
4 |
63,007,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03231:Zfp618
|
APN |
4 |
63,012,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03257:Zfp618
|
APN |
4 |
63,050,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Zfp618
|
UTSW |
4 |
62,998,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Zfp618
|
UTSW |
4 |
63,051,171 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0408:Zfp618
|
UTSW |
4 |
63,004,809 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0685:Zfp618
|
UTSW |
4 |
63,052,011 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1482:Zfp618
|
UTSW |
4 |
63,033,685 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1585:Zfp618
|
UTSW |
4 |
63,051,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Zfp618
|
UTSW |
4 |
63,013,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Zfp618
|
UTSW |
4 |
63,004,871 (GRCm39) |
splice site |
probably benign |
|
|
R1793:Zfp618
|
UTSW |
4 |
63,051,474 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1952:Zfp618
|
UTSW |
4 |
63,050,555 (GRCm39) |
splice site |
probably null |
|
|
R1996:Zfp618
|
UTSW |
4 |
63,049,452 (GRCm39) |
splice site |
probably null |
|
|
R3792:Zfp618
|
UTSW |
4 |
63,033,728 (GRCm39) |
intron |
probably benign |
|
|
R3803:Zfp618
|
UTSW |
4 |
63,051,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3838:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4009:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4010:Zfp618
|
UTSW |
4 |
63,051,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4565:Zfp618
|
UTSW |
4 |
63,039,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Zfp618
|
UTSW |
4 |
63,051,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5019:Zfp618
|
UTSW |
4 |
63,021,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Zfp618
|
UTSW |
4 |
63,051,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Zfp618
|
UTSW |
4 |
63,017,519 (GRCm39) |
missense |
probably benign |
|
|
R5354:Zfp618
|
UTSW |
4 |
62,998,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:Zfp618
|
UTSW |
4 |
63,013,729 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5774:Zfp618
|
UTSW |
4 |
63,050,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5932:Zfp618
|
UTSW |
4 |
63,036,803 (GRCm39) |
nonsense |
probably null |
|
|
R6101:Zfp618
|
UTSW |
4 |
63,051,478 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6105:Zfp618
|
UTSW |
4 |
63,051,478 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6478:Zfp618
|
UTSW |
4 |
63,050,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6598:Zfp618
|
UTSW |
4 |
63,007,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7386:Zfp618
|
UTSW |
4 |
63,013,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7666:Zfp618
|
UTSW |
4 |
63,050,954 (GRCm39) |
nonsense |
probably null |
|
|
R7678:Zfp618
|
UTSW |
4 |
63,004,858 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7975:Zfp618
|
UTSW |
4 |
63,049,352 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8276:Zfp618
|
UTSW |
4 |
63,051,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Zfp618
|
UTSW |
4 |
63,051,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Zfp618
|
UTSW |
4 |
63,012,708 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9022:Zfp618
|
UTSW |
4 |
63,012,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Zfp618
|
UTSW |
4 |
63,039,603 (GRCm39) |
nonsense |
probably null |
|
|
R9163:Zfp618
|
UTSW |
4 |
63,051,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Zfp618
|
UTSW |
4 |
63,036,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9382:Zfp618
|
UTSW |
4 |
63,051,258 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9424:Zfp618
|
UTSW |
4 |
63,051,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9462:Zfp618
|
UTSW |
4 |
63,051,510 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9576:Zfp618
|
UTSW |
4 |
63,051,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9587:Zfp618
|
UTSW |
4 |
63,051,916 (GRCm39) |
missense |
|
|
|
X0011:Zfp618
|
UTSW |
4 |
62,998,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Zfp618
|
UTSW |
4 |
63,051,000 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Zfp618
|
UTSW |
4 |
63,013,734 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGCAATTTTAACACCTTGGCAC -3'
(R):5'- TAGGTCCTCACACACGTTGAGCAG -3'
Sequencing Primer
(F):5'- TTTAACACCTTGGCACTGAAGC -3'
(R):5'- TTGAGCAGCTCGATGACCTC -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation