Incidental Mutation 'R6598:Zfp618'
| ID |
525025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp618
|
| Ensembl Gene |
ENSMUSG00000028358 |
| Gene Name |
zinc finger protein 618 |
| Synonyms |
Nedd10, 2810040O04Rik, D430033D05Rik, 2810031P15Rik |
| MMRRC Submission |
044722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R6598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62883810-63057945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63007636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 155
(Y155C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030043]
[ENSMUST00000064814]
[ENSMUST00000107415]
|
| AlphaFold |
Q80YY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030043
AA Change: Y99C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030043
Gene: ENSMUSG00000028358
AA Change: Y99C
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
90 |
112 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
2.91e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064814
AA Change: Y123C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069275
Gene: ENSMUSG00000028358
AA Change: Y123C
| 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: Y155C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
AA Change: Y155C
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
| Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
| Golm2 |
A |
T |
2: 121,763,966 (GRCm39) |
E247D |
probably damaging |
Het |
| Golm2 |
G |
A |
2: 121,763,967 (GRCm39) |
E383K |
probably damaging |
Het |
| Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
| Kcnj8 |
G |
T |
6: 142,515,959 (GRCm39) |
N49K |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,436,326 (GRCm39) |
M281K |
possibly damaging |
Het |
| Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,204,109 (GRCm39) |
Q140R |
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
| Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
| Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
| Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,437,092 (GRCm39) |
E10K |
probably benign |
Het |
| Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
G |
T |
9: 108,776,690 (GRCm39) |
V30F |
possibly damaging |
Het |
| Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
| Zfp979 |
A |
G |
4: 147,698,223 (GRCm39) |
L162P |
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 |
|
ANU18:Zfp618
|
UTSW |
4 |
63,051,063 (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 |
|
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'- CAGGTGGCTGTAAAGTGTAGGC -3'
(R):5'- AGGTCATCAGAGGCCTAACTCC -3'
Sequencing Primer
(F):5'- AGTGTAGGCTTCATGAACTCCAGC -3'
(R):5'- GTCATCAGAGGCCTAACTCCTGAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation