Incidental Mutation 'R2265:Zfp616'
ID |
244097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
040265-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2265 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73976289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 853
(Y853H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136549
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074813]
[ENSMUST00000108463]
[ENSMUST00000116546]
[ENSMUST00000178159]
|
AlphaFold |
J3QN14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074813
|
SMART Domains |
Protein: ENSMUSP00000074365 Gene: ENSMUSG00000069476
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.79e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108463
|
SMART Domains |
Protein: ENSMUSP00000104103 Gene: ENSMUSG00000069476
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.79e-34 |
SMART |
low complexity region
|
249 |
258 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116546
|
SMART Domains |
Protein: ENSMUSP00000112245 Gene: ENSMUSG00000069476
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.79e-34 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137407
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178159
AA Change: Y853H
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: Y853H
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
125 |
447 |
7.61e-6 |
PROSPERO |
ZnF_C2H2
|
452 |
474 |
3.11e-2 |
SMART |
ZnF_C2H2
|
509 |
531 |
2.61e-4 |
SMART |
ZnF_C2H2
|
537 |
559 |
1.47e-3 |
SMART |
ZnF_C2H2
|
565 |
587 |
5.21e-4 |
SMART |
ZnF_C2H2
|
593 |
615 |
1.22e-4 |
SMART |
ZnF_C2H2
|
621 |
643 |
2.57e-3 |
SMART |
ZnF_C2H2
|
649 |
671 |
9.22e-5 |
SMART |
ZnF_C2H2
|
677 |
699 |
5.9e-3 |
SMART |
ZnF_C2H2
|
705 |
727 |
4.94e-5 |
SMART |
ZnF_C2H2
|
733 |
755 |
8.34e-3 |
SMART |
ZnF_C2H2
|
761 |
783 |
1.6e-4 |
SMART |
ZnF_C2H2
|
789 |
811 |
6.88e-4 |
SMART |
ZnF_C2H2
|
817 |
839 |
1.6e-4 |
SMART |
ZnF_C2H2
|
845 |
867 |
1.3e-4 |
SMART |
ZnF_C2H2
|
873 |
895 |
7.37e-4 |
SMART |
ZnF_C2H2
|
901 |
923 |
1.6e-4 |
SMART |
ZnF_C2H2
|
929 |
951 |
1.3e-4 |
SMART |
ZnF_C2H2
|
957 |
979 |
3.95e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
C |
1: 12,042,328 (GRCm39) |
|
probably null |
Het |
Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
Abca16 |
A |
G |
7: 120,030,383 (GRCm39) |
D165G |
probably benign |
Het |
Adam24 |
T |
A |
8: 41,133,110 (GRCm39) |
S193T |
possibly damaging |
Het |
Adra2b |
T |
C |
2: 127,205,791 (GRCm39) |
S103P |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
Alg11 |
T |
A |
8: 22,555,630 (GRCm39) |
V255E |
probably benign |
Het |
Aox1 |
C |
A |
1: 58,120,679 (GRCm39) |
D857E |
probably damaging |
Het |
Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
Bdkrb2 |
A |
G |
12: 105,558,484 (GRCm39) |
T242A |
probably benign |
Het |
Cdca7 |
T |
C |
2: 72,312,834 (GRCm39) |
L190P |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,967,397 (GRCm39) |
T2180A |
probably benign |
Het |
Cep41 |
T |
A |
6: 30,660,915 (GRCm39) |
I126F |
possibly damaging |
Het |
Col16a1 |
C |
A |
4: 129,946,711 (GRCm39) |
H111Q |
probably benign |
Het |
Cops3 |
T |
C |
11: 59,718,716 (GRCm39) |
T193A |
probably benign |
Het |
Dbr1 |
G |
A |
9: 99,461,463 (GRCm39) |
V153M |
probably damaging |
Het |
Ddx4 |
A |
G |
13: 112,757,810 (GRCm39) |
Y290H |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,240,107 (GRCm39) |
S461R |
possibly damaging |
Het |
Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
Dnajc28 |
T |
C |
16: 91,413,200 (GRCm39) |
N372S |
probably benign |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Dock3 |
C |
A |
9: 106,818,525 (GRCm39) |
V1190F |
probably damaging |
Het |
Exosc1 |
A |
G |
19: 41,919,857 (GRCm39) |
S54P |
probably damaging |
Het |
Fbxw22 |
C |
T |
9: 109,213,062 (GRCm39) |
R295K |
probably benign |
Het |
Foxo1 |
T |
C |
3: 52,253,333 (GRCm39) |
S499P |
probably benign |
Het |
Heatr5a |
T |
C |
12: 51,940,528 (GRCm39) |
D1444G |
possibly damaging |
Het |
Hspa2 |
T |
G |
12: 76,452,962 (GRCm39) |
I552S |
probably benign |
Het |
Imp4 |
T |
A |
1: 34,482,928 (GRCm39) |
I173N |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,905,873 (GRCm39) |
I352V |
possibly damaging |
Het |
Kcnh6 |
G |
A |
11: 105,924,643 (GRCm39) |
R816Q |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcnip3 |
G |
T |
2: 127,306,981 (GRCm39) |
A173D |
probably benign |
Het |
Kir3dl1 |
A |
G |
X: 135,425,784 (GRCm39) |
R53G |
probably benign |
Het |
Klhl31 |
A |
G |
9: 77,557,440 (GRCm39) |
D52G |
possibly damaging |
Het |
Klk1b21 |
T |
C |
7: 43,753,863 (GRCm39) |
I49T |
possibly damaging |
Het |
Lama2 |
T |
A |
10: 26,868,932 (GRCm39) |
I2838F |
probably damaging |
Het |
Lilrb4a |
T |
A |
10: 51,367,633 (GRCm39) |
Y58* |
probably null |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
G |
4: 81,301,628 (GRCm39) |
S266P |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mroh7 |
T |
C |
4: 106,578,124 (GRCm39) |
N185D |
probably benign |
Het |
Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,500,185 (GRCm39) |
D937G |
probably benign |
Het |
Myo18b |
A |
G |
5: 112,930,539 (GRCm39) |
M1799T |
probably damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
Or10ak16 |
A |
T |
4: 118,751,071 (GRCm39) |
R264W |
probably damaging |
Het |
Or2m12 |
A |
G |
16: 19,105,305 (GRCm39) |
Y63H |
probably damaging |
Het |
Or4f54 |
A |
G |
2: 111,123,524 (GRCm39) |
T304A |
probably benign |
Het |
Or51f1d |
G |
A |
7: 102,701,344 (GRCm39) |
V280I |
probably benign |
Het |
Or52n20 |
T |
C |
7: 104,320,067 (GRCm39) |
F53L |
probably benign |
Het |
Or8k28 |
T |
C |
2: 86,286,558 (GRCm39) |
Y19C |
possibly damaging |
Het |
Ovch2 |
A |
T |
7: 107,383,782 (GRCm39) |
M521K |
probably damaging |
Het |
P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
Pcdhb19 |
A |
T |
18: 37,630,736 (GRCm39) |
H177L |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,355,597 (GRCm39) |
L520S |
possibly damaging |
Het |
Pjvk |
T |
G |
2: 76,487,797 (GRCm39) |
S230A |
possibly damaging |
Het |
Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
Rad9b |
T |
C |
5: 122,489,405 (GRCm39) |
Y41C |
probably damaging |
Het |
Ranbp3l |
A |
T |
15: 9,057,194 (GRCm39) |
I286F |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,996,161 (GRCm39) |
V739D |
probably damaging |
Het |
Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
Spg11 |
A |
T |
2: 121,938,788 (GRCm39) |
C389S |
possibly damaging |
Het |
Srsf4 |
T |
C |
4: 131,624,993 (GRCm39) |
V130A |
probably damaging |
Het |
Taar8b |
T |
C |
10: 23,967,270 (GRCm39) |
N308S |
probably damaging |
Het |
Tas2r117 |
T |
A |
6: 132,780,188 (GRCm39) |
C109S |
probably benign |
Het |
Tlr5 |
T |
A |
1: 182,802,600 (GRCm39) |
S635T |
possibly damaging |
Het |
Ttc21a |
G |
T |
9: 119,788,074 (GRCm39) |
C833F |
possibly damaging |
Het |
Vash2 |
T |
C |
1: 190,682,410 (GRCm39) |
N347D |
probably damaging |
Het |
Vcp |
G |
A |
4: 42,980,833 (GRCm39) |
A759V |
possibly damaging |
Het |
Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
|
Other mutations in Zfp616 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00530:Zfp616
|
APN |
11 |
73,974,439 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00570:Zfp616
|
APN |
11 |
73,976,631 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00594:Zfp616
|
APN |
11 |
73,973,789 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01861:Zfp616
|
APN |
11 |
73,973,742 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03022:Zfp616
|
APN |
11 |
73,973,800 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0197:Zfp616
|
UTSW |
11 |
73,976,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R0442:Zfp616
|
UTSW |
11 |
73,975,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0497:Zfp616
|
UTSW |
11 |
73,974,306 (GRCm39) |
missense |
probably benign |
0.00 |
R0651:Zfp616
|
UTSW |
11 |
73,974,555 (GRCm39) |
nonsense |
probably null |
|
R0730:Zfp616
|
UTSW |
11 |
73,975,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Zfp616
|
UTSW |
11 |
73,976,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R0926:Zfp616
|
UTSW |
11 |
73,976,644 (GRCm39) |
missense |
probably benign |
0.04 |
R0940:Zfp616
|
UTSW |
11 |
73,975,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Zfp616
|
UTSW |
11 |
73,973,767 (GRCm39) |
makesense |
probably null |
|
R1272:Zfp616
|
UTSW |
11 |
73,976,062 (GRCm39) |
missense |
probably benign |
0.08 |
R1446:Zfp616
|
UTSW |
11 |
73,974,064 (GRCm39) |
splice site |
probably null |
|
R1482:Zfp616
|
UTSW |
11 |
73,974,803 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1553:Zfp616
|
UTSW |
11 |
73,974,744 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1564:Zfp616
|
UTSW |
11 |
73,975,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Zfp616
|
UTSW |
11 |
73,976,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R1796:Zfp616
|
UTSW |
11 |
73,976,671 (GRCm39) |
missense |
probably damaging |
0.98 |
R1797:Zfp616
|
UTSW |
11 |
73,976,105 (GRCm39) |
nonsense |
probably null |
|
R1993:Zfp616
|
UTSW |
11 |
73,975,795 (GRCm39) |
missense |
probably benign |
0.08 |
R2026:Zfp616
|
UTSW |
11 |
73,974,413 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2124:Zfp616
|
UTSW |
11 |
73,973,869 (GRCm39) |
splice site |
probably null |
|
R2126:Zfp616
|
UTSW |
11 |
73,976,229 (GRCm39) |
missense |
probably benign |
0.08 |
R2199:Zfp616
|
UTSW |
11 |
73,975,456 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2404:Zfp616
|
UTSW |
11 |
73,975,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Zfp616
|
UTSW |
11 |
73,974,121 (GRCm39) |
missense |
probably benign |
0.01 |
R2519:Zfp616
|
UTSW |
11 |
73,975,094 (GRCm39) |
nonsense |
probably null |
|
R3103:Zfp616
|
UTSW |
11 |
73,962,561 (GRCm39) |
missense |
probably benign |
0.01 |
R3611:Zfp616
|
UTSW |
11 |
73,974,268 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3703:Zfp616
|
UTSW |
11 |
73,974,145 (GRCm39) |
nonsense |
probably null |
|
R3744:Zfp616
|
UTSW |
11 |
73,974,813 (GRCm39) |
missense |
probably benign |
0.01 |
R4043:Zfp616
|
UTSW |
11 |
73,976,108 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4273:Zfp616
|
UTSW |
11 |
73,974,526 (GRCm39) |
missense |
probably benign |
0.00 |
R4384:Zfp616
|
UTSW |
11 |
73,974,005 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4469:Zfp616
|
UTSW |
11 |
73,961,950 (GRCm39) |
missense |
probably damaging |
0.98 |
R4560:Zfp616
|
UTSW |
11 |
73,973,860 (GRCm39) |
missense |
probably benign |
0.00 |
R4821:Zfp616
|
UTSW |
11 |
73,975,033 (GRCm39) |
missense |
probably benign |
0.41 |
R4844:Zfp616
|
UTSW |
11 |
73,975,225 (GRCm39) |
missense |
probably benign |
0.10 |
R4948:Zfp616
|
UTSW |
11 |
73,974,830 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5007:Zfp616
|
UTSW |
11 |
73,974,643 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5198:Zfp616
|
UTSW |
11 |
73,974,336 (GRCm39) |
missense |
probably benign |
0.33 |
R5344:Zfp616
|
UTSW |
11 |
73,975,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5918:Zfp616
|
UTSW |
11 |
73,974,086 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5933:Zfp616
|
UTSW |
11 |
73,973,952 (GRCm39) |
missense |
probably damaging |
0.96 |
R6084:Zfp616
|
UTSW |
11 |
73,974,672 (GRCm39) |
nonsense |
probably null |
|
R6421:Zfp616
|
UTSW |
11 |
73,974,696 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6494:Zfp616
|
UTSW |
11 |
73,976,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R6523:Zfp616
|
UTSW |
11 |
73,973,968 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6849:Zfp616
|
UTSW |
11 |
73,976,276 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6910:Zfp616
|
UTSW |
11 |
73,975,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Zfp616
|
UTSW |
11 |
73,976,087 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7213:Zfp616
|
UTSW |
11 |
73,976,689 (GRCm39) |
missense |
probably benign |
0.05 |
R7302:Zfp616
|
UTSW |
11 |
73,976,205 (GRCm39) |
missense |
probably benign |
0.08 |
R7391:Zfp616
|
UTSW |
11 |
73,976,155 (GRCm39) |
missense |
probably benign |
0.08 |
R7654:Zfp616
|
UTSW |
11 |
73,974,013 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7877:Zfp616
|
UTSW |
11 |
73,975,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R7889:Zfp616
|
UTSW |
11 |
73,976,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Zfp616
|
UTSW |
11 |
73,974,894 (GRCm39) |
missense |
probably benign |
|
R8061:Zfp616
|
UTSW |
11 |
73,974,340 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8212:Zfp616
|
UTSW |
11 |
73,976,569 (GRCm39) |
missense |
probably damaging |
0.96 |
R8335:Zfp616
|
UTSW |
11 |
73,974,726 (GRCm39) |
nonsense |
probably null |
|
R8361:Zfp616
|
UTSW |
11 |
73,975,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R8486:Zfp616
|
UTSW |
11 |
73,974,909 (GRCm39) |
missense |
probably benign |
0.18 |
R8695:Zfp616
|
UTSW |
11 |
73,975,710 (GRCm39) |
missense |
probably benign |
0.45 |
R8808:Zfp616
|
UTSW |
11 |
73,976,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R9022:Zfp616
|
UTSW |
11 |
73,976,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R9126:Zfp616
|
UTSW |
11 |
73,976,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9164:Zfp616
|
UTSW |
11 |
73,975,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R9293:Zfp616
|
UTSW |
11 |
73,974,744 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9421:Zfp616
|
UTSW |
11 |
73,974,331 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9512:Zfp616
|
UTSW |
11 |
73,975,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9529:Zfp616
|
UTSW |
11 |
73,976,596 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9529:Zfp616
|
UTSW |
11 |
73,975,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9606:Zfp616
|
UTSW |
11 |
73,976,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Zfp616
|
UTSW |
11 |
73,976,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R9788:Zfp616
|
UTSW |
11 |
73,975,276 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Zfp616
|
UTSW |
11 |
73,976,467 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1176:Zfp616
|
UTSW |
11 |
73,974,045 (GRCm39) |
missense |
possibly damaging |
0.72 |
Z1176:Zfp616
|
UTSW |
11 |
73,973,859 (GRCm39) |
missense |
probably benign |
|
Z1177:Zfp616
|
UTSW |
11 |
73,975,878 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGTCTTAAAAGGCACCACAGA -3'
(R):5'- CTTGAAGATTTGAATACTGGGCAAAA -3'
Sequencing Primer
(F):5'- GCCCAGTCTTCAAATCTTCAAG -3'
(R):5'- CTTGAAGATTTGAAGACTGGGC -3'
|
Posted On |
2014-10-16 |