Incidental Mutation 'R1553:Zfp616'
ID |
170100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
039592-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1553 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73974744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 429
(I429F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104103
(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 |
possibly damaging
Transcript: ENSMUST00000108463
AA Change: I429F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104103 Gene: ENSMUSG00000069476 AA Change: I429F
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 |
unknown
Transcript: ENSMUST00000178159
AA Change: I338F
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: I338F
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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
G |
T |
5: 24,613,748 (GRCm39) |
A649S |
probably damaging |
Het |
Adam6a |
T |
A |
12: 113,508,835 (GRCm39) |
C403S |
probably damaging |
Het |
Adgrg3 |
T |
C |
8: 95,766,896 (GRCm39) |
F417S |
possibly damaging |
Het |
Ago1 |
T |
C |
4: 126,334,194 (GRCm39) |
E439G |
probably damaging |
Het |
Alox15 |
A |
G |
11: 70,240,458 (GRCm39) |
V241A |
possibly damaging |
Het |
Arhgap6 |
A |
G |
X: 168,048,480 (GRCm39) |
H566R |
probably damaging |
Het |
Asap1 |
A |
T |
15: 64,024,701 (GRCm39) |
F345I |
probably benign |
Het |
Atp1b2 |
A |
G |
11: 69,493,678 (GRCm39) |
Y134H |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,368,376 (GRCm39) |
T199M |
probably damaging |
Het |
Calb1 |
A |
T |
4: 15,895,656 (GRCm39) |
S115C |
probably damaging |
Het |
Ccdc68 |
A |
T |
18: 70,073,192 (GRCm39) |
I47F |
probably damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,921,540 (GRCm39) |
N560I |
probably benign |
Het |
Cdhr3 |
T |
C |
12: 33,092,370 (GRCm39) |
D747G |
probably benign |
Het |
Cdk5rap1 |
T |
G |
2: 154,194,171 (GRCm39) |
N378T |
probably damaging |
Het |
Chil4 |
T |
G |
3: 106,111,006 (GRCm39) |
N296T |
probably benign |
Het |
Cryaa |
G |
A |
17: 31,898,533 (GRCm39) |
V87I |
probably damaging |
Het |
Csk |
G |
A |
9: 57,538,225 (GRCm39) |
L28F |
probably damaging |
Het |
Cspp1 |
A |
G |
1: 10,156,122 (GRCm39) |
N444D |
possibly damaging |
Het |
Cyp2j8 |
A |
G |
4: 96,363,794 (GRCm39) |
Y290H |
probably benign |
Het |
Eps8l1 |
A |
T |
7: 4,480,448 (GRCm39) |
D563V |
probably damaging |
Het |
Fam111a |
A |
T |
19: 12,564,682 (GRCm39) |
S144C |
possibly damaging |
Het |
Fam135a |
A |
T |
1: 24,060,951 (GRCm39) |
S1145R |
probably damaging |
Het |
Fpr2 |
T |
A |
17: 18,113,856 (GRCm39) |
V284D |
possibly damaging |
Het |
Furin |
A |
G |
7: 80,048,340 (GRCm39) |
|
probably null |
Het |
Gatd1 |
T |
C |
7: 140,989,806 (GRCm39) |
T135A |
probably benign |
Het |
Gdf3 |
A |
G |
6: 122,586,724 (GRCm39) |
S68P |
probably benign |
Het |
Gm6871 |
T |
C |
7: 41,195,822 (GRCm39) |
H305R |
probably benign |
Het |
Grip1 |
A |
G |
10: 119,890,756 (GRCm39) |
S917G |
probably damaging |
Het |
Hdac10 |
T |
A |
15: 89,009,718 (GRCm39) |
E388V |
possibly damaging |
Het |
Hectd1 |
T |
C |
12: 51,820,661 (GRCm39) |
N1176S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,322 (GRCm39) |
D3439G |
probably benign |
Het |
Kcna4 |
T |
C |
2: 107,127,032 (GRCm39) |
Y589H |
probably benign |
Het |
Kcnk5 |
A |
T |
14: 20,192,462 (GRCm39) |
L233Q |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,397 (GRCm39) |
I453T |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,833,170 (GRCm39) |
I440T |
possibly damaging |
Het |
Krt10 |
C |
A |
11: 99,276,806 (GRCm39) |
G40* |
probably null |
Het |
Lce1i |
A |
T |
3: 92,685,102 (GRCm39) |
C25S |
unknown |
Het |
Met |
A |
G |
6: 17,491,460 (GRCm39) |
N74S |
probably benign |
Het |
Naa35 |
G |
A |
13: 59,766,093 (GRCm39) |
|
probably null |
Het |
Naalad2 |
T |
C |
9: 18,289,965 (GRCm39) |
N221S |
probably benign |
Het |
Nolc1 |
AGCG |
AGCGGCG |
19: 46,069,814 (GRCm39) |
|
probably benign |
Het |
Nsmf |
T |
C |
2: 24,950,271 (GRCm39) |
V181A |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,957,848 (GRCm39) |
S393T |
probably benign |
Het |
Or12j3 |
T |
A |
7: 139,952,951 (GRCm39) |
T191S |
probably damaging |
Het |
Or2d3c |
A |
T |
7: 106,526,201 (GRCm39) |
V155E |
possibly damaging |
Het |
Or51a6 |
T |
A |
7: 102,604,425 (GRCm39) |
I128L |
possibly damaging |
Het |
Papola |
T |
A |
12: 105,786,669 (GRCm39) |
S453R |
probably benign |
Het |
Paqr9 |
A |
G |
9: 95,442,262 (GRCm39) |
N84S |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,572,585 (GRCm39) |
V290A |
probably benign |
Het |
Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
Psg18 |
T |
C |
7: 18,087,406 (GRCm39) |
Y84C |
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,038,783 (GRCm39) |
R1021H |
probably damaging |
Het |
Rnf114 |
G |
T |
2: 167,354,522 (GRCm39) |
R201L |
possibly damaging |
Het |
Rp1l1 |
A |
G |
14: 64,269,343 (GRCm39) |
E1643G |
probably benign |
Het |
Scg3 |
T |
A |
9: 75,576,586 (GRCm39) |
E263V |
probably null |
Het |
Scn2a |
C |
T |
2: 65,544,180 (GRCm39) |
R854* |
probably null |
Het |
Setdb2 |
T |
C |
14: 59,654,934 (GRCm39) |
K319E |
probably benign |
Het |
Stub1 |
A |
T |
17: 26,051,097 (GRCm39) |
V95E |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,471 (GRCm39) |
N96Y |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,259,482 (GRCm39) |
D1467V |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,689,456 (GRCm39) |
T2044S |
probably damaging |
Het |
Tlr2 |
T |
A |
3: 83,744,770 (GRCm39) |
M438L |
probably benign |
Het |
Tmem179 |
T |
C |
12: 112,471,094 (GRCm39) |
Y106C |
probably benign |
Het |
Tspan7 |
A |
G |
X: 10,451,854 (GRCm39) |
H187R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,757,619 (GRCm39) |
D3332G |
probably damaging |
Het |
Upp2 |
T |
C |
2: 58,680,152 (GRCm39) |
F326S |
probably damaging |
Het |
Usp2 |
T |
A |
9: 44,003,452 (GRCm39) |
D224E |
probably damaging |
Het |
Vmn1r5 |
T |
A |
6: 56,962,483 (GRCm39) |
F53I |
probably benign |
Het |
Wapl |
T |
A |
14: 34,451,147 (GRCm39) |
L727H |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,267,870 (GRCm39) |
D176G |
possibly damaging |
Het |
Xpnpep1 |
G |
T |
19: 52,994,769 (GRCm39) |
D243E |
probably benign |
Het |
Zfyve26 |
G |
A |
12: 79,334,535 (GRCm39) |
P161L |
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 |
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 |
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'- AGCAGGATCATACCACATGGAGCC -3'
(R):5'- GCAAAGGACTTGCCACATTGCAC -3'
Sequencing Primer
(F):5'- ATGACTGGCAGGATGACATT -3'
(R):5'- TCCCTCTAGCTTGAAATACCATAAGG -3'
|
Posted On |
2014-04-13 |