Incidental Mutation 'R7877:Zfp616'
ID |
608524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
045929-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7877 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 73975188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 486
(G486W)
|
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 |
probably damaging
Transcript: ENSMUST00000178159
AA Change: G486W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: G486W
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
A |
17: 9,220,665 (GRCm39) |
C388Y |
probably damaging |
Het |
4930522L14Rik |
G |
A |
5: 109,884,230 (GRCm39) |
H543Y |
probably damaging |
Het |
Abca1 |
A |
T |
4: 53,046,135 (GRCm39) |
V1711E |
possibly damaging |
Het |
Abca3 |
A |
T |
17: 24,602,997 (GRCm39) |
K531* |
probably null |
Het |
Adgrf5 |
A |
T |
17: 43,752,729 (GRCm39) |
D557V |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,842,467 (GRCm39) |
E865G |
probably benign |
Het |
Adprhl1 |
T |
A |
8: 13,275,316 (GRCm39) |
R481* |
probably null |
Het |
Afap1l1 |
T |
A |
18: 61,879,853 (GRCm39) |
D339V |
probably damaging |
Het |
Atp9b |
T |
A |
18: 80,890,412 (GRCm39) |
H309L |
|
Het |
Baiap3 |
A |
G |
17: 25,470,112 (GRCm39) |
V122A |
probably damaging |
Het |
Btg4 |
T |
C |
9: 51,029,240 (GRCm39) |
S142P |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cdca2 |
T |
A |
14: 67,914,665 (GRCm39) |
T865S |
probably benign |
Het |
Cdk12 |
A |
G |
11: 98,131,661 (GRCm39) |
Y964C |
unknown |
Het |
Cenpo |
A |
T |
12: 4,264,573 (GRCm39) |
F273Y |
probably damaging |
Het |
Cfap96 |
T |
A |
8: 46,423,436 (GRCm39) |
K92M |
probably damaging |
Het |
Chac1 |
T |
A |
2: 119,183,987 (GRCm39) |
D196E |
probably damaging |
Het |
Clec4n |
T |
C |
6: 123,209,063 (GRCm39) |
F43L |
probably benign |
Het |
Colgalt1 |
T |
A |
8: 72,074,508 (GRCm39) |
C407S |
probably damaging |
Het |
Csnk1g1 |
T |
A |
9: 65,906,830 (GRCm39) |
|
probably null |
Het |
Cyp2b23 |
T |
A |
7: 26,385,851 (GRCm39) |
E2V |
probably damaging |
Het |
Cyp51 |
T |
A |
5: 4,152,929 (GRCm39) |
K91M |
probably damaging |
Het |
Cyria |
A |
C |
12: 12,414,798 (GRCm39) |
Y263S |
probably benign |
Het |
Dnah8 |
G |
T |
17: 30,882,348 (GRCm39) |
G640V |
probably benign |
Het |
Dnajc2 |
G |
T |
5: 21,965,637 (GRCm39) |
S505R |
possibly damaging |
Het |
Fam124b |
A |
T |
1: 80,191,053 (GRCm39) |
L110H |
probably damaging |
Het |
Fem1b |
T |
A |
9: 62,703,844 (GRCm39) |
Y472F |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,932,049 (GRCm39) |
|
probably null |
Het |
Gabrg1 |
A |
T |
5: 70,973,415 (GRCm39) |
D46E |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,266,161 (GRCm39) |
K627E |
probably benign |
Het |
Glis1 |
A |
G |
4: 107,491,900 (GRCm39) |
D776G |
probably damaging |
Het |
Gm4847 |
A |
G |
1: 166,467,575 (GRCm39) |
V207A |
possibly damaging |
Het |
Gm7298 |
T |
A |
6: 121,759,741 (GRCm39) |
Y1213* |
probably null |
Het |
Gm8229 |
T |
A |
14: 44,604,033 (GRCm39) |
L74* |
probably null |
Het |
Hc |
A |
T |
2: 34,887,411 (GRCm39) |
Y1364* |
probably null |
Het |
Hnrnpa2b1 |
A |
T |
6: 51,443,302 (GRCm39) |
S186R |
unknown |
Het |
Hrh4 |
A |
G |
18: 13,155,582 (GRCm39) |
I374V |
possibly damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,311,490 (GRCm39) |
L975P |
probably damaging |
Het |
Intu |
G |
A |
3: 40,654,222 (GRCm39) |
V905I |
probably benign |
Het |
Large1 |
T |
A |
8: 73,843,071 (GRCm39) |
R151W |
probably damaging |
Het |
Limd2 |
G |
A |
11: 106,050,004 (GRCm39) |
T24M |
probably benign |
Het |
Med16 |
A |
T |
10: 79,734,206 (GRCm39) |
C569* |
probably null |
Het |
Mettl1 |
T |
G |
10: 126,880,390 (GRCm39) |
V104G |
possibly damaging |
Het |
Mgat4c |
A |
G |
10: 102,220,900 (GRCm39) |
T61A |
probably benign |
Het |
Mrps31 |
T |
A |
8: 22,914,367 (GRCm39) |
Y238N |
probably benign |
Het |
Mrs2 |
T |
C |
13: 25,181,113 (GRCm39) |
E236G |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Noxred1 |
G |
A |
12: 87,271,761 (GRCm39) |
A136V |
probably benign |
Het |
Obscn |
T |
A |
11: 59,024,588 (GRCm39) |
D484V |
probably damaging |
Het |
Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
Pik3r5 |
G |
A |
11: 68,381,431 (GRCm39) |
G206R |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,882,434 (GRCm39) |
C680Y |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,300,241 (GRCm39) |
F1614S |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,147,235 (GRCm39) |
M1129V |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,572,928 (GRCm39) |
T7I |
unknown |
Het |
Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
Slc17a6 |
T |
A |
7: 51,275,253 (GRCm39) |
I104N |
probably benign |
Het |
Slc35c1 |
A |
T |
2: 92,289,402 (GRCm39) |
W48R |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,910,886 (GRCm39) |
C317S |
probably damaging |
Het |
Smim13 |
G |
T |
13: 41,403,650 (GRCm39) |
|
probably benign |
Het |
Snrpg |
T |
C |
6: 86,355,761 (GRCm39) |
V76A |
probably benign |
Het |
Sntb2 |
C |
T |
8: 107,738,164 (GRCm39) |
T509I |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,079,601 (GRCm39) |
D1276G |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,794,290 (GRCm39) |
E1498G |
possibly damaging |
Het |
Stau1 |
T |
A |
2: 166,792,787 (GRCm39) |
N393Y |
possibly damaging |
Het |
Tars2 |
A |
T |
3: 95,653,401 (GRCm39) |
S500T |
probably damaging |
Het |
Tbc1d23 |
A |
T |
16: 56,993,488 (GRCm39) |
D559E |
probably benign |
Het |
Trav14-2 |
T |
C |
14: 53,878,508 (GRCm39) |
Y64H |
possibly damaging |
Het |
Trpm3 |
A |
C |
19: 22,882,148 (GRCm39) |
E838D |
probably benign |
Het |
Vmn1r23 |
G |
A |
6: 57,903,541 (GRCm39) |
A79V |
probably benign |
Het |
Vmn1r48 |
G |
T |
6: 90,013,431 (GRCm39) |
N131K |
probably benign |
Het |
Vmn2r18 |
A |
T |
5: 151,508,437 (GRCm39) |
M229K |
probably damaging |
Het |
Zbtb4 |
G |
A |
11: 69,666,863 (GRCm39) |
R56K |
probably benign |
Het |
Zkscan8 |
A |
T |
13: 21,704,580 (GRCm39) |
F453Y |
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 |
R2265:Zfp616
|
UTSW |
11 |
73,976,289 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
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'- GAAATGTGTGCAATGTGGCAAGTC -3'
(R):5'- TCTGTAGTGCCCTTTAAGATCTGAG -3'
Sequencing Primer
(F):5'- AAGTCCTTTGCTCAGTACTCAG -3'
(R):5'- TGAGGACTTTATAAAACTTTTCCCAC -3'
|
Posted On |
2019-12-20 |