Incidental Mutation 'R5344:Zfp616'
ID |
422512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
042923-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5344 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73975321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 530
(I530T)
|
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: I530T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: I530T
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 |
|
Meta Mutation Damage Score |
0.1402 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
G |
12: 71,289,801 (GRCm39) |
C1499G |
probably benign |
Het |
Aldoart1 |
A |
G |
4: 72,770,352 (GRCm39) |
V152A |
possibly damaging |
Het |
Alms1 |
T |
C |
6: 85,673,771 (GRCm39) |
L3591P |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,356,843 (GRCm39) |
M58K |
probably damaging |
Het |
Asb3 |
A |
C |
11: 31,051,114 (GRCm39) |
I523L |
probably benign |
Het |
Ascl2 |
T |
C |
7: 142,522,436 (GRCm39) |
H4R |
possibly damaging |
Het |
Asic2 |
T |
C |
11: 80,862,413 (GRCm39) |
M246V |
probably damaging |
Het |
Btc |
A |
T |
5: 91,524,779 (GRCm39) |
C53S |
possibly damaging |
Het |
Cdhr5 |
T |
C |
7: 140,856,437 (GRCm39) |
I39M |
probably damaging |
Het |
Cdkn3 |
T |
A |
14: 47,004,807 (GRCm39) |
M123K |
possibly damaging |
Het |
Cebpz |
A |
G |
17: 79,233,542 (GRCm39) |
Y762H |
possibly damaging |
Het |
Ces1g |
T |
A |
8: 94,063,821 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,236,763 (GRCm39) |
|
probably null |
Het |
Chd7 |
G |
T |
4: 8,844,417 (GRCm39) |
G1537W |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,793,703 (GRCm39) |
D317E |
probably damaging |
Het |
Clec3a |
C |
A |
8: 115,149,712 (GRCm39) |
N56K |
probably damaging |
Het |
Col11a1 |
T |
A |
3: 114,002,011 (GRCm39) |
|
probably null |
Het |
Cox20 |
G |
A |
1: 178,149,598 (GRCm39) |
|
probably benign |
Het |
Cyp2d22 |
A |
G |
15: 82,255,839 (GRCm39) |
V471A |
possibly damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,135,163 (GRCm39) |
V1339A |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,112,352 (GRCm39) |
D1278G |
probably benign |
Het |
Epc1 |
G |
A |
18: 6,450,614 (GRCm39) |
P284L |
probably benign |
Het |
Evi5l |
G |
T |
8: 4,235,990 (GRCm39) |
R61L |
possibly damaging |
Het |
Fbln2 |
T |
C |
6: 91,243,365 (GRCm39) |
Y914H |
probably damaging |
Het |
Fbxo44 |
A |
G |
4: 148,238,030 (GRCm39) |
S191P |
probably damaging |
Het |
Fign |
A |
G |
2: 63,809,569 (GRCm39) |
I567T |
probably benign |
Het |
Fryl |
C |
T |
5: 73,262,117 (GRCm39) |
R550K |
probably damaging |
Het |
Gpcpd1 |
G |
A |
2: 132,400,597 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,481,739 (GRCm39) |
I3096T |
probably benign |
Het |
Hic2 |
T |
A |
16: 17,075,712 (GRCm39) |
D180E |
probably benign |
Het |
Ibtk |
A |
G |
9: 85,617,057 (GRCm39) |
F172L |
possibly damaging |
Het |
Itga1 |
A |
G |
13: 115,138,845 (GRCm39) |
S369P |
possibly damaging |
Het |
Itgb4 |
G |
A |
11: 115,880,575 (GRCm39) |
R675Q |
probably null |
Het |
Lrrc3b |
T |
C |
14: 15,358,591 (GRCm38) |
D5G |
probably damaging |
Het |
Maml3 |
T |
A |
3: 52,011,146 (GRCm39) |
D140V |
probably damaging |
Het |
Med21 |
A |
G |
6: 146,550,683 (GRCm39) |
T65A |
probably benign |
Het |
Mta1 |
T |
C |
12: 113,095,186 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,406,430 (GRCm39) |
D152G |
probably damaging |
Het |
Oas1b |
C |
A |
5: 120,960,269 (GRCm39) |
Q325K |
probably benign |
Het |
Or10j27 |
A |
G |
1: 172,958,673 (GRCm39) |
L37P |
probably benign |
Het |
Or2n1c |
C |
A |
17: 38,519,995 (GRCm39) |
N286K |
probably damaging |
Het |
Or5d44 |
A |
C |
2: 88,141,334 (GRCm39) |
C269G |
probably benign |
Het |
Pclo |
A |
G |
5: 14,726,626 (GRCm39) |
|
probably benign |
Het |
Phactr2 |
C |
T |
10: 13,129,360 (GRCm39) |
V233I |
possibly damaging |
Het |
Plekha2 |
A |
T |
8: 25,533,063 (GRCm39) |
|
probably null |
Het |
Reg3b |
A |
G |
6: 78,349,843 (GRCm39) |
M128V |
probably benign |
Het |
Rnaseh2a |
A |
G |
8: 85,684,735 (GRCm39) |
|
probably benign |
Het |
Scn5a |
T |
C |
9: 119,363,073 (GRCm39) |
S516G |
probably benign |
Het |
Serpina12 |
T |
A |
12: 104,001,807 (GRCm39) |
|
probably null |
Het |
Slc10a1 |
T |
C |
12: 81,000,540 (GRCm39) |
T320A |
possibly damaging |
Het |
Slc26a7 |
A |
T |
4: 14,519,402 (GRCm39) |
D539E |
probably benign |
Het |
Specc1l |
C |
A |
10: 75,082,007 (GRCm39) |
R485S |
possibly damaging |
Het |
Srp54b |
T |
G |
12: 55,302,366 (GRCm39) |
I339S |
probably damaging |
Het |
Tada1 |
G |
A |
1: 166,207,081 (GRCm39) |
|
probably benign |
Het |
Trim16 |
T |
C |
11: 62,711,751 (GRCm39) |
C54R |
probably damaging |
Het |
Trio |
C |
T |
15: 27,735,618 (GRCm39) |
R2824Q |
probably benign |
Het |
Ttpa |
A |
G |
4: 20,021,245 (GRCm39) |
I138V |
probably damaging |
Het |
Ubap2 |
A |
C |
4: 41,251,578 (GRCm39) |
M18R |
possibly damaging |
Het |
Usp38 |
A |
G |
8: 81,712,392 (GRCm39) |
S548P |
possibly damaging |
Het |
Vmn2r73 |
T |
C |
7: 85,525,046 (GRCm39) |
D34G |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,904,904 (GRCm39) |
H74L |
probably damaging |
Het |
Zfp408 |
C |
T |
2: 91,475,588 (GRCm39) |
C622Y |
probably benign |
Het |
Zfp9 |
C |
A |
6: 118,442,140 (GRCm39) |
C174F |
probably damaging |
Het |
Zfyve16 |
A |
G |
13: 92,658,096 (GRCm39) |
I605T |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,031,519 (GRCm39) |
T530A |
probably 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 |
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'- AACCCTCACAGGATCTGTACTG -3'
(R):5'- GGATTCTGTAGTGCCTTTTAAGAC -3'
Sequencing Primer
(F):5'- CCTCACAGGATCTGTACTGTAAAG -3'
(R):5'- AGTGCCTTTTAAGACCTGAGGAC -3'
|
Posted On |
2016-08-04 |