Incidental Mutation 'R8421:Zfp618'
| ID |
653185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp618
|
| Ensembl Gene |
ENSMUSG00000028358 |
| Gene Name |
zinc finger protein 618 |
| Synonyms |
Nedd10, 2810040O04Rik, D430033D05Rik, 2810031P15Rik |
| MMRRC Submission |
067898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R8421 (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 63051483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 755
(T755A)
|
| 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: T662A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069275
Gene: ENSMUSG00000028358
AA Change: T662A
| 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: T755A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
AA Change: T755A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,880,486 (GRCm39) |
E1239G |
unknown |
Het |
| Actn3 |
T |
C |
19: 4,911,741 (GRCm39) |
M806V |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,048,812 (GRCm39) |
T676A |
probably benign |
Het |
| Ankef1 |
C |
A |
2: 136,379,085 (GRCm39) |
Q12K |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,384 (GRCm39) |
V157D |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,791 (GRCm39) |
M163K |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,518,487 (GRCm39) |
M117K |
probably benign |
Het |
| Ccdc87 |
T |
C |
19: 4,891,313 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Cdh16 |
C |
T |
8: 105,348,602 (GRCm39) |
R142K |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,886,718 (GRCm39) |
V431I |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,260,966 (GRCm39) |
D719G |
probably damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,948,595 (GRCm39) |
F88S |
probably damaging |
Het |
| Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,968,122 (GRCm38) |
D261G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,102,477 (GRCm39) |
D2641G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,480 (GRCm39) |
V2174D |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,142 (GRCm39) |
L244P |
probably damaging |
Het |
| Hcn4 |
T |
A |
9: 58,765,379 (GRCm39) |
D620E |
unknown |
Het |
| Ide |
A |
G |
19: 37,255,403 (GRCm39) |
V800A |
|
Het |
| Ikbkb |
A |
T |
8: 23,168,804 (GRCm39) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,493,365 (GRCm39) |
F197Y |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,615,435 (GRCm39) |
Y3656F |
|
Het |
| Mapkbp1 |
C |
A |
2: 119,849,431 (GRCm39) |
N708K |
probably damaging |
Het |
| Marveld3 |
A |
G |
8: 110,675,279 (GRCm39) |
M179T |
probably benign |
Het |
| Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
| Mrpl35 |
T |
C |
6: 71,793,151 (GRCm39) |
K167E |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,366,935 (GRCm39) |
V594A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,102,269 (GRCm39) |
T356A |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,111,174 (GRCm39) |
Y1692C |
probably damaging |
Het |
| Or8k22 |
T |
A |
2: 86,163,247 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,698,491 (GRCm39) |
|
probably null |
Het |
| Oxnad1 |
T |
G |
14: 31,821,431 (GRCm39) |
I172S |
probably benign |
Het |
| Padi4 |
C |
A |
4: 140,475,533 (GRCm39) |
C544F |
probably damaging |
Het |
| Pard3 |
A |
C |
8: 127,867,158 (GRCm39) |
|
probably benign |
Het |
| Plvap |
G |
A |
8: 71,964,176 (GRCm39) |
T62M |
probably damaging |
Het |
| Potefam1 |
T |
A |
2: 111,048,955 (GRCm39) |
K275* |
probably null |
Het |
| Prdm8 |
C |
T |
5: 98,333,822 (GRCm39) |
A463V |
probably damaging |
Het |
| Prss21 |
T |
A |
17: 24,088,342 (GRCm39) |
D102E |
possibly damaging |
Het |
| Psmb10 |
G |
T |
8: 106,663,342 (GRCm39) |
Q182K |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,849,968 (GRCm39) |
P319S |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,826,929 (GRCm39) |
E112G |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,094,786 (GRCm39) |
T393A |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,413,734 (GRCm39) |
E954G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,958,972 (GRCm39) |
I79F |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,561 (GRCm39) |
K135E |
probably benign |
Het |
| Ube2q2l |
T |
C |
6: 136,378,350 (GRCm39) |
E160G |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,178,304 (GRCm39) |
E3044G |
unknown |
Het |
| Usf3 |
A |
T |
16: 44,037,572 (GRCm39) |
Q684L |
possibly damaging |
Het |
| Vmn1r114 |
A |
T |
7: 20,545,459 (GRCm39) |
M218K |
possibly damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
| Vmn2r67 |
A |
C |
7: 84,785,893 (GRCm39) |
L704R |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,017,331 (GRCm39) |
T381A |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,620 (GRCm39) |
D957G |
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 |
|
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 |
|
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'- TGGAACTCAGTGACGGACTC -3'
(R):5'- TAATGATCTCCTCGTGCTGGTAG -3'
Sequencing Primer
(F):5'- AGTGACGGACTCGCTGCTG -3'
(R):5'- ACCGGCCGAAGCTTCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation