Incidental Mutation 'R9126:Zfp616'
ID |
693265 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9126 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73976280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 850
(C850S)
|
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: C850S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: C850S
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: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
G |
T |
3: 98,068,307 (GRCm39) |
V47L |
probably benign |
Het |
Atm |
T |
C |
9: 53,370,134 (GRCm39) |
K2323R |
probably benign |
Het |
Bbx |
A |
G |
16: 50,020,813 (GRCm39) |
L865P |
probably damaging |
Het |
C2cd3 |
T |
A |
7: 100,081,430 (GRCm39) |
I1024N |
|
Het |
Cacna1e |
A |
T |
1: 154,343,510 (GRCm39) |
C1161S |
probably benign |
Het |
Caskin2 |
A |
T |
11: 115,702,730 (GRCm39) |
V26E |
possibly damaging |
Het |
Ccnb3 |
T |
G |
X: 6,874,413 (GRCm39) |
D722A |
probably damaging |
Het |
Cep135 |
C |
A |
5: 76,781,550 (GRCm39) |
Q846K |
probably benign |
Het |
Cfap44 |
A |
T |
16: 44,295,619 (GRCm39) |
D1639V |
possibly damaging |
Het |
Cfh |
G |
T |
1: 140,014,111 (GRCm39) |
R1238S |
probably damaging |
Het |
Dctn1 |
A |
T |
6: 83,169,835 (GRCm39) |
D712V |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,424,479 (GRCm39) |
D574G |
probably damaging |
Het |
Dele1 |
A |
G |
18: 38,384,210 (GRCm39) |
T35A |
probably benign |
Het |
Dipk1b |
A |
G |
2: 26,525,989 (GRCm39) |
T308A |
probably benign |
Het |
Dlgap5 |
A |
G |
14: 47,638,989 (GRCm39) |
I443T |
probably damaging |
Het |
Dusp7 |
G |
A |
9: 106,250,966 (GRCm39) |
V364I |
|
Het |
Entpd1 |
G |
T |
19: 40,714,608 (GRCm39) |
R268L |
possibly damaging |
Het |
Fermt3 |
C |
T |
19: 6,979,745 (GRCm39) |
A463T |
probably benign |
Het |
Frat2 |
T |
C |
19: 41,836,106 (GRCm39) |
D82G |
probably damaging |
Het |
Git1 |
T |
A |
11: 77,390,380 (GRCm39) |
I75N |
probably damaging |
Het |
Gpr171 |
T |
A |
3: 59,005,488 (GRCm39) |
I96F |
probably damaging |
Het |
Gzmb |
G |
T |
14: 56,497,845 (GRCm39) |
R132S |
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,546,608 (GRCm39) |
R132H |
probably damaging |
Het |
Hey1 |
T |
G |
3: 8,729,651 (GRCm39) |
S269R |
probably benign |
Het |
Hgf |
T |
A |
5: 16,765,979 (GRCm39) |
N38K |
possibly damaging |
Het |
Lag3 |
T |
C |
6: 124,881,809 (GRCm39) |
R467G |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,583,527 (GRCm39) |
H705L |
probably damaging |
Het |
Lce3f |
T |
G |
3: 92,900,327 (GRCm39) |
S49R |
unknown |
Het |
Lrrc49 |
T |
C |
9: 60,578,594 (GRCm39) |
D250G |
probably damaging |
Het |
Lzts3 |
T |
C |
2: 130,477,248 (GRCm39) |
K400R |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,409,711 (GRCm39) |
S160P |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,276,193 (GRCm39) |
T6155A |
possibly damaging |
Het |
Mboat4 |
C |
T |
8: 34,582,348 (GRCm39) |
T34I |
probably benign |
Het |
Nav3 |
T |
A |
10: 109,541,524 (GRCm39) |
Q1913L |
probably benign |
Het |
Notch4 |
T |
C |
17: 34,800,080 (GRCm39) |
S1014P |
probably benign |
Het |
Or1o4 |
T |
C |
17: 37,590,745 (GRCm39) |
T189A |
probably benign |
Het |
Or2h1b |
T |
C |
17: 37,462,123 (GRCm39) |
T247A |
possibly damaging |
Het |
Or52z1 |
T |
G |
7: 103,437,002 (GRCm39) |
I161L |
probably benign |
Het |
Orc2 |
A |
C |
1: 58,515,628 (GRCm39) |
H293Q |
probably benign |
Het |
Otoa |
A |
G |
7: 120,693,845 (GRCm39) |
Y75C |
probably damaging |
Het |
Pate2 |
T |
A |
9: 35,581,908 (GRCm39) |
|
probably null |
Het |
Phldb3 |
G |
A |
7: 24,326,726 (GRCm39) |
V585I |
probably damaging |
Het |
Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
Pou2f1 |
A |
T |
1: 165,722,603 (GRCm39) |
N443K |
unknown |
Het |
Prkci |
T |
A |
3: 31,072,793 (GRCm39) |
F66I |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,002,334 (GRCm39) |
Q1475* |
probably null |
Het |
Qars1 |
C |
T |
9: 108,386,399 (GRCm39) |
R143C |
probably damaging |
Het |
Reln |
T |
C |
5: 22,160,194 (GRCm39) |
D2125G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,417,136 (GRCm39) |
D1325E |
probably damaging |
Het |
Rpl36a-ps1 |
A |
T |
14: 99,231,694 (GRCm39) |
C15S |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,744 (GRCm39) |
I1658T |
probably damaging |
Het |
Serinc1 |
C |
T |
10: 57,395,577 (GRCm39) |
G370S |
probably benign |
Het |
Spef1 |
G |
T |
2: 131,013,829 (GRCm39) |
T197K |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,164,453 (GRCm39) |
Y152C |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,920,597 (GRCm39) |
V2363I |
probably damaging |
Het |
Ssh2 |
T |
A |
11: 77,346,102 (GRCm39) |
C1362* |
probably null |
Het |
Star |
T |
C |
8: 26,302,832 (GRCm39) |
V258A |
probably benign |
Het |
Sympk |
T |
C |
7: 18,778,873 (GRCm39) |
I588T |
possibly damaging |
Het |
Tas2r136 |
T |
C |
6: 132,754,584 (GRCm39) |
N181S |
probably damaging |
Het |
Tbc1d4 |
A |
T |
14: 101,724,952 (GRCm39) |
V555E |
probably benign |
Het |
Topaz1 |
G |
A |
9: 122,625,228 (GRCm39) |
V1438I |
probably benign |
Het |
Trmt112 |
T |
A |
19: 6,887,786 (GRCm39) |
M45K |
|
Het |
Tshr |
G |
A |
12: 91,503,992 (GRCm39) |
R310H |
probably damaging |
Het |
Ulk4 |
G |
T |
9: 121,090,988 (GRCm39) |
P238Q |
probably damaging |
Het |
Unc5a |
T |
C |
13: 55,145,774 (GRCm39) |
L312P |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,566,290 (GRCm39) |
D1499G |
possibly damaging |
Het |
Ushbp1 |
A |
G |
8: 71,843,653 (GRCm39) |
S262P |
probably damaging |
Het |
Vmn1r173 |
G |
A |
7: 23,402,008 (GRCm39) |
R81K |
probably benign |
Het |
Vmn2r5 |
G |
A |
3: 64,399,159 (GRCm39) |
P607S |
probably benign |
Het |
Vtn |
G |
T |
11: 78,391,256 (GRCm39) |
G223V |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,394,589 (GRCm39) |
V1061A |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
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 |
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 |
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'- TTTGCCTGTTCCTCAAGTCTTAA -3'
(R):5'- ATACTGGGCAAAATACTTACCACA -3'
Sequencing Primer
(F):5'- CTGTTCCTCAAGTCTTAAAAGGCAC -3'
(R):5'- CTTGAAGATTTGAAGACTGGGC -3'
|
Posted On |
2022-01-20 |