Incidental Mutation 'R3821:Zfp618'
| ID |
274904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp618
|
| Ensembl Gene |
ENSMUSG00000028358 |
| Gene Name |
zinc finger protein 618 |
| Synonyms |
Nedd10, 2810040O04Rik, D430033D05Rik, 2810031P15Rik |
| MMRRC Submission |
040883-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R3821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62883810-63057945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63051801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 861
(A861T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064814]
[ENSMUST00000107415]
|
| AlphaFold |
Q80YY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064814
AA Change: A768T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069275
Gene: ENSMUSG00000028358
AA Change: A768T
| 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 benign
Transcript: ENSMUST00000107415
AA Change: A861T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
AA Change: A861T
| 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 |
|
| Meta Mutation Damage Score |
0.0723 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
| Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
| Adamtsl3 |
G |
T |
7: 82,255,687 (GRCm39) |
|
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,077,308 (GRCm39) |
I481F |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
| Arpin |
G |
A |
7: 79,579,408 (GRCm39) |
R72C |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,819,066 (GRCm39) |
E466G |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Clgn |
A |
G |
8: 84,147,106 (GRCm39) |
I353V |
probably null |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cramp1 |
G |
A |
17: 25,193,756 (GRCm39) |
T908I |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
A |
T |
17: 74,134,390 (GRCm39) |
I250F |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,936,911 (GRCm39) |
V555A |
possibly damaging |
Het |
| Erbb4 |
A |
G |
1: 68,345,072 (GRCm39) |
S550P |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,102,510 (GRCm39) |
|
probably benign |
Het |
| Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,559,836 (GRCm39) |
L1557Q |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,253,246 (GRCm39) |
I506T |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
| Hoxc9 |
A |
G |
15: 102,890,596 (GRCm39) |
K171R |
probably benign |
Het |
| Hscb |
A |
T |
5: 110,984,194 (GRCm39) |
D52E |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,514,487 (GRCm39) |
I40N |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,267,770 (GRCm39) |
T149A |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,319,224 (GRCm39) |
H244Q |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,588,661 (GRCm39) |
D449E |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lhfpl4 |
A |
G |
6: 113,171,069 (GRCm39) |
V39A |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,960,418 (GRCm39) |
L542Q |
probably damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrpl19 |
C |
A |
6: 81,938,987 (GRCm39) |
E272* |
probably null |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
| Or2a51 |
A |
G |
6: 43,178,604 (GRCm39) |
T9A |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
| Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
| Ptprb |
G |
T |
10: 116,185,979 (GRCm39) |
R1678L |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,226,375 (GRCm38) |
I1323L |
probably benign |
Het |
| Rab40b |
T |
A |
11: 121,248,874 (GRCm39) |
N127I |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,467,699 (GRCm39) |
C814R |
probably benign |
Het |
| Sdhb |
C |
T |
4: 140,706,399 (GRCm39) |
R279* |
probably null |
Het |
| Shroom4 |
C |
T |
X: 6,536,276 (GRCm39) |
Q1165* |
probably null |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Slc20a2 |
A |
G |
8: 23,028,918 (GRCm39) |
I130V |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,549 (GRCm39) |
Y741C |
possibly damaging |
Het |
| Tas1r1 |
G |
T |
4: 152,119,138 (GRCm39) |
L144I |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,333,089 (GRCm39) |
V92A |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,847,477 (GRCm39) |
H1207L |
probably damaging |
Het |
| Tmem209 |
G |
T |
6: 30,505,959 (GRCm39) |
P116T |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,779,127 (GRCm39) |
V57A |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,610,279 (GRCm39) |
D249V |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,824,157 (GRCm39) |
|
probably null |
Het |
| Ufc1 |
A |
G |
1: 171,117,172 (GRCm39) |
|
probably benign |
Het |
| Unc5cl |
T |
C |
17: 48,767,001 (GRCm39) |
L125P |
possibly damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,061 (GRCm39) |
S57N |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,485,816 (GRCm39) |
S164P |
possibly 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 |
|
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'- GCTCAAGGAGAACTTCAAGGTGC -3'
(R):5'- ATTTACACACCCGCTCCGAG -3'
Sequencing Primer
(F):5'- GAGAACTTCAAGGTGCACCCG -3'
(R):5'- GAGCCCCGACAGCAGGAAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation