Incidental Mutation 'R0497:Zfp616'
| ID |
40550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp616
|
| Ensembl Gene |
ENSMUSG00000069476 |
| Gene Name |
zinc finger protein 616 |
| Synonyms |
Gm12330 |
| MMRRC Submission |
038693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73974306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 192
(V192L)
|
| 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
AA Change: V283L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104103
Gene: ENSMUSG00000069476
AA Change: V283L
| 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 |
probably benign
Transcript: ENSMUST00000178159
AA Change: V192L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136549
Gene: ENSMUSG00000069476
AA Change: V192L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
C |
11: 119,909,606 (GRCm39) |
V110G |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,495,606 (GRCm39) |
|
probably null |
Het |
| Adm |
A |
G |
7: 110,228,328 (GRCm39) |
T170A |
probably benign |
Het |
| Afap1l2 |
G |
T |
19: 56,918,641 (GRCm39) |
N171K |
probably benign |
Het |
| Aph1b |
G |
T |
9: 66,697,900 (GRCm39) |
S112* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,342,989 (GRCm39) |
S424G |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Braf |
G |
A |
6: 39,617,483 (GRCm39) |
|
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,334 (GRCm39) |
R47Q |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,957,819 (GRCm39) |
V972A |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,511,881 (GRCm39) |
L300H |
probably damaging |
Het |
| Chmp3 |
T |
C |
6: 71,529,395 (GRCm39) |
S20P |
probably damaging |
Het |
| Chp1 |
A |
G |
2: 119,402,263 (GRCm39) |
N79S |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,260 (GRCm39) |
I335N |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,296,783 (GRCm39) |
V6A |
probably benign |
Het |
| Ctcf |
T |
A |
8: 106,401,672 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,967,724 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,845,079 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,017,420 (GRCm39) |
F782L |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,112,194 (GRCm39) |
Y153F |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,003,401 (GRCm39) |
Q237K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,228 (GRCm39) |
T2162S |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,890 (GRCm39) |
C1158S |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,387 (GRCm39) |
I434V |
possibly damaging |
Het |
| Gm42417 |
A |
T |
1: 36,571,248 (GRCm39) |
L77Q |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,517,303 (GRCm39) |
N49Y |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,114,985 (GRCm39) |
V974E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,449 (GRCm39) |
V2721A |
probably damaging |
Het |
| Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,710,665 (GRCm39) |
L23P |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,772 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,091,710 (GRCm39) |
V543E |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,167,809 (GRCm39) |
|
probably benign |
Het |
| Med25 |
T |
C |
7: 44,541,524 (GRCm39) |
D60G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,641,826 (GRCm39) |
Y560N |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 112,054,505 (GRCm39) |
Y211H |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,978,493 (GRCm39) |
N289S |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
| Omt2b |
T |
C |
9: 78,235,513 (GRCm39) |
|
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,175 (GRCm39) |
D137G |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,177,094 (GRCm39) |
L652P |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,479,167 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
G |
A |
16: 97,595,534 (GRCm39) |
T1098I |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,954 (GRCm39) |
T436A |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,588,689 (GRCm39) |
D812E |
probably benign |
Het |
| Sla |
A |
T |
15: 66,664,098 (GRCm39) |
I91K |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,460,963 (GRCm39) |
M255R |
probably damaging |
Het |
| Slc49a4 |
A |
T |
16: 35,555,974 (GRCm39) |
V162D |
probably benign |
Het |
| Smg8 |
C |
T |
11: 86,976,910 (GRCm39) |
D224N |
possibly damaging |
Het |
| Spdef |
A |
T |
17: 27,937,032 (GRCm39) |
D190E |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,464,630 (GRCm39) |
I152T |
probably damaging |
Het |
| Tmem220 |
A |
G |
11: 66,916,748 (GRCm39) |
D36G |
probably damaging |
Het |
| Tmem235 |
A |
C |
11: 117,755,177 (GRCm39) |
I210L |
probably benign |
Het |
| Tmem266 |
C |
T |
9: 55,288,168 (GRCm39) |
|
probably null |
Het |
| Tmprss12 |
A |
G |
15: 100,178,920 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,711,053 (GRCm39) |
|
probably benign |
Het |
| Usp44 |
C |
T |
10: 93,682,668 (GRCm39) |
P373S |
possibly damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,990,118 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,953 (GRCm39) |
I147T |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,595,394 (GRCm39) |
I649N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,755 (GRCm39) |
Y269* |
probably null |
Het |
| Zan |
C |
T |
5: 137,410,938 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,378,299 (GRCm39) |
|
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,621,914 (GRCm39) |
L751* |
probably null |
Het |
| Znfx1 |
T |
A |
2: 166,897,331 (GRCm39) |
Q531L |
probably benign |
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 |
|
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 |
|
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'- ACCCACTTCCCTGAAGCATTTATCAAG -3'
(R):5'- CCTGCTGTTGCAAAGATGACTGAGAG -3'
Sequencing Primer
(F):5'- CCTGAAGCATTTATCAAGTAGTATGG -3'
(R):5'- CAGTGATTAGACATAGCCTGTCTAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation