Incidental Mutation 'R1446:Zfp616'
ID |
158892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
039501-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1446 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
splice site (199 bp from exon) |
DNA Base Change (assembly) |
A to G
at 73974064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112245
(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: N202S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104103 Gene: ENSMUSG00000069476 AA Change: N202S
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.79e-34 |
SMART |
low complexity region
|
249 |
258 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
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: N111S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: N111S
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: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
T |
5: 77,034,136 (GRCm39) |
A472T |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,007,480 (GRCm39) |
|
probably null |
Het |
Ahcyl2 |
T |
C |
6: 29,891,239 (GRCm39) |
S448P |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,346,935 (GRCm39) |
Y745C |
probably benign |
Het |
Anxa1 |
A |
T |
19: 20,351,103 (GRCm39) |
L339Q |
probably damaging |
Het |
Apoa4 |
A |
G |
9: 46,153,591 (GRCm39) |
D64G |
probably benign |
Het |
Arpc1a |
A |
G |
5: 145,037,896 (GRCm39) |
|
probably null |
Het |
Bank1 |
C |
T |
3: 135,769,904 (GRCm39) |
G727R |
probably damaging |
Het |
Best2 |
T |
C |
8: 85,734,593 (GRCm39) |
Q375R |
probably benign |
Het |
Cacna1b |
T |
A |
2: 24,596,189 (GRCm39) |
M501L |
probably benign |
Het |
Col27a1 |
T |
A |
4: 63,143,040 (GRCm39) |
Y243N |
probably damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,922,560 (GRCm39) |
Q80L |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
Dnajc19 |
T |
C |
3: 34,112,128 (GRCm39) |
H139R |
probably benign |
Het |
Dppa5a |
T |
A |
9: 78,275,071 (GRCm39) |
N77I |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,614,764 (GRCm39) |
S125P |
probably damaging |
Het |
Eid2 |
T |
C |
7: 27,968,014 (GRCm39) |
I212T |
possibly damaging |
Het |
Fam234b |
T |
A |
6: 135,186,328 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
C |
3: 53,562,017 (GRCm39) |
E830G |
probably benign |
Het |
Fyb1 |
A |
T |
15: 6,681,947 (GRCm39) |
I765L |
probably benign |
Het |
Fyn |
T |
G |
10: 39,398,775 (GRCm39) |
S124A |
probably benign |
Het |
Gal3st3 |
T |
A |
19: 5,356,939 (GRCm39) |
F105I |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,379,177 (GRCm39) |
I326M |
probably benign |
Het |
Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
Gsn |
A |
G |
2: 35,196,598 (GRCm39) |
K669R |
probably benign |
Het |
H2-T10 |
A |
T |
17: 36,430,266 (GRCm39) |
I225N |
possibly damaging |
Het |
Il12rb2 |
T |
C |
6: 67,286,127 (GRCm39) |
H106R |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,215,638 (GRCm39) |
E41G |
probably damaging |
Het |
Kcnma1 |
G |
T |
14: 23,361,792 (GRCm39) |
T1006K |
probably damaging |
Het |
Kif18b |
G |
A |
11: 102,805,525 (GRCm39) |
T244I |
probably damaging |
Het |
Klb |
A |
T |
5: 65,506,338 (GRCm39) |
H195L |
probably damaging |
Het |
Lrriq4 |
T |
C |
3: 30,704,727 (GRCm39) |
F252L |
probably benign |
Het |
Lum |
C |
T |
10: 97,404,252 (GRCm39) |
T49I |
possibly damaging |
Het |
Map3k4 |
T |
A |
17: 12,475,681 (GRCm39) |
L84* |
probably null |
Het |
Mindy2 |
A |
G |
9: 70,514,738 (GRCm39) |
|
probably null |
Het |
Mpped2 |
G |
T |
2: 106,614,077 (GRCm39) |
R137L |
possibly damaging |
Het |
Myo18b |
G |
A |
5: 112,905,425 (GRCm39) |
R2058W |
probably damaging |
Het |
Nol8 |
T |
A |
13: 49,808,703 (GRCm39) |
L65Q |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or4c108 |
A |
G |
2: 88,804,109 (GRCm39) |
I42T |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,202 (GRCm39) |
L247M |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,380 (GRCm39) |
A96V |
possibly damaging |
Het |
Or5g9 |
A |
G |
2: 85,551,917 (GRCm39) |
H56R |
probably damaging |
Het |
Or8b3 |
T |
G |
9: 38,314,601 (GRCm39) |
C144G |
possibly damaging |
Het |
Or9a4 |
C |
T |
6: 40,548,833 (GRCm39) |
S171L |
probably benign |
Het |
Parp12 |
G |
T |
6: 39,079,495 (GRCm39) |
D338E |
probably benign |
Het |
Pde6d |
T |
C |
1: 86,474,414 (GRCm39) |
E77G |
probably damaging |
Het |
Phkg1 |
A |
C |
5: 129,902,055 (GRCm39) |
|
probably null |
Het |
Pigw |
A |
C |
11: 84,769,186 (GRCm39) |
S48A |
probably benign |
Het |
Pkm |
T |
A |
9: 59,576,193 (GRCm39) |
|
probably null |
Het |
Ppp1r3f |
G |
A |
X: 7,426,602 (GRCm39) |
T553M |
probably damaging |
Het |
Retreg2 |
T |
A |
1: 75,120,103 (GRCm39) |
F44L |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,753,035 (GRCm39) |
M1762K |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,313,579 (GRCm39) |
V1927A |
probably benign |
Het |
Sec23a |
G |
T |
12: 59,025,345 (GRCm39) |
A492E |
probably damaging |
Het |
Skint4 |
T |
A |
4: 111,975,311 (GRCm39) |
H82Q |
probably benign |
Het |
Srbd1 |
T |
C |
17: 86,446,580 (GRCm39) |
K60E |
probably benign |
Het |
Stk24 |
A |
G |
14: 121,545,456 (GRCm39) |
Y101H |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,726,396 (GRCm39) |
N239K |
probably damaging |
Het |
Tgs1 |
C |
T |
4: 3,604,848 (GRCm39) |
P757S |
probably damaging |
Het |
Tmc2 |
A |
T |
2: 130,090,650 (GRCm39) |
E665D |
probably damaging |
Het |
Tmprss15 |
C |
A |
16: 78,875,846 (GRCm39) |
D163Y |
probably benign |
Het |
Unc13a |
C |
A |
8: 72,101,625 (GRCm39) |
V1009L |
possibly damaging |
Het |
Unc45b |
G |
T |
11: 82,819,496 (GRCm39) |
G490C |
probably damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,645,264 (GRCm39) |
M450V |
possibly damaging |
Het |
Wars2 |
T |
C |
3: 99,094,843 (GRCm39) |
I46T |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 101,999,176 (GRCm39) |
T3098K |
possibly damaging |
Het |
Zan |
A |
T |
5: 137,387,622 (GRCm39) |
I4863N |
unknown |
Het |
Zfp770 |
A |
T |
2: 114,027,514 (GRCm39) |
I185N |
probably damaging |
Het |
Zfp808 |
T |
G |
13: 62,320,821 (GRCm39) |
H683Q |
probably damaging |
Het |
Zmym4 |
A |
T |
4: 126,776,275 (GRCm39) |
W1221R |
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 |
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'- GGTGGTGAGGAGCATGAAATATGTGATT -3'
(R):5'- GAGTTTCCACAACTACCTTCCACATGAT -3'
Sequencing Primer
(F):5'- CTGGCAAAACACATCTGTTTTAATTC -3'
(R):5'- CCTACATGGTAGAACTTGTCACAGAG -3'
|
Posted On |
2014-03-14 |