Incidental Mutation 'R0940:Zfp616'
ID |
81437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
039079-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73975850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 706
(K706N)
|
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 |
probably damaging
Transcript: ENSMUST00000178159
AA Change: K706N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: K706N
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 |
0.4161 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
2610021A01Rik |
T |
G |
7: 41,275,858 (GRCm39) |
I520M |
probably damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,831 (GRCm39) |
F39L |
probably damaging |
Het |
Adgre5 |
C |
T |
8: 84,460,126 (GRCm39) |
S92N |
probably damaging |
Het |
Adrb2 |
T |
C |
18: 62,312,762 (GRCm39) |
D21G |
probably benign |
Het |
Akr1c6 |
G |
A |
13: 4,486,372 (GRCm39) |
E60K |
probably benign |
Het |
Bcl7c |
T |
A |
7: 127,306,503 (GRCm39) |
N96I |
possibly damaging |
Het |
Brca1 |
A |
T |
11: 101,422,969 (GRCm39) |
S106R |
possibly damaging |
Het |
C6 |
A |
T |
15: 4,764,717 (GRCm39) |
T138S |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,300,564 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
T |
A |
17: 31,022,217 (GRCm39) |
M3939K |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,681,626 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
T |
G |
18: 20,183,116 (GRCm39) |
T101P |
probably damaging |
Het |
Dynlt1b |
T |
C |
17: 6,697,649 (GRCm39) |
|
probably benign |
Het |
E330013P04Rik |
A |
G |
19: 60,150,354 (GRCm39) |
|
noncoding transcript |
Het |
Fggy |
A |
G |
4: 95,585,238 (GRCm39) |
E39G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,572,797 (GRCm39) |
V952A |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,753,795 (GRCm39) |
C116S |
probably benign |
Het |
Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
Gmps |
A |
G |
3: 63,883,743 (GRCm39) |
|
probably benign |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Hnrnpm |
G |
A |
17: 33,868,976 (GRCm39) |
R523C |
probably damaging |
Het |
Inpp5a |
T |
C |
7: 139,105,654 (GRCm39) |
Y202H |
probably damaging |
Het |
Kank3 |
C |
T |
17: 34,036,450 (GRCm39) |
S106F |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,305,658 (GRCm39) |
D253G |
probably benign |
Het |
Lrrk2 |
A |
T |
15: 91,613,284 (GRCm39) |
I803F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,500,129 (GRCm39) |
|
probably benign |
Het |
Myh4 |
A |
T |
11: 67,133,689 (GRCm39) |
N243Y |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,497,996 (GRCm39) |
Y545H |
probably damaging |
Het |
Nfatc1 |
C |
T |
18: 80,679,110 (GRCm39) |
M759I |
probably benign |
Het |
Nipal4 |
A |
G |
11: 46,041,139 (GRCm39) |
I352T |
possibly damaging |
Het |
Nomo1 |
A |
G |
7: 45,683,329 (GRCm39) |
E25G |
possibly damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,020 (GRCm39) |
S255P |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,903,065 (GRCm39) |
I151T |
probably benign |
Het |
Or14j7 |
A |
G |
17: 38,234,591 (GRCm39) |
I45V |
probably damaging |
Het |
Or1e32 |
T |
C |
11: 73,705,050 (GRCm39) |
N286S |
probably damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,419 (GRCm39) |
I146L |
probably benign |
Het |
Or5p66 |
T |
C |
7: 107,886,264 (GRCm39) |
D23G |
probably benign |
Het |
Pabpn1l |
A |
G |
8: 123,349,183 (GRCm39) |
V78A |
probably benign |
Het |
Pde6b |
T |
A |
5: 108,568,203 (GRCm39) |
I327N |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,834,768 (GRCm39) |
|
probably benign |
Het |
Pkm |
C |
T |
9: 59,575,818 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
G |
A |
1: 194,482,863 (GRCm39) |
V1519I |
probably benign |
Het |
Ppp2cb |
T |
C |
8: 34,105,689 (GRCm39) |
|
probably null |
Het |
Prickle2 |
A |
G |
6: 92,387,984 (GRCm39) |
Y473H |
probably benign |
Het |
Prpf3 |
A |
G |
3: 95,751,535 (GRCm39) |
W389R |
probably damaging |
Het |
Psme4 |
G |
A |
11: 30,765,264 (GRCm39) |
E544K |
possibly damaging |
Het |
Relb |
A |
T |
7: 19,345,767 (GRCm39) |
D395E |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,307,389 (GRCm39) |
N683S |
probably benign |
Het |
Rtel1 |
T |
C |
2: 180,964,596 (GRCm39) |
C102R |
probably benign |
Het |
Sel1l3 |
C |
T |
5: 53,301,379 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
A |
G |
7: 15,878,887 (GRCm39) |
T458A |
probably benign |
Het |
Smc3 |
T |
A |
19: 53,629,340 (GRCm39) |
M931K |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,249,539 (GRCm39) |
V795A |
probably benign |
Het |
Tgm3 |
A |
G |
2: 129,854,326 (GRCm39) |
S2G |
probably benign |
Het |
Tpbpa |
T |
C |
13: 61,087,867 (GRCm39) |
T75A |
probably damaging |
Het |
Trub1 |
A |
G |
19: 57,473,495 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,328,604 (GRCm39) |
|
probably null |
Het |
Ugt2a3 |
A |
G |
5: 87,475,065 (GRCm39) |
V393A |
possibly damaging |
Het |
Vav3 |
T |
A |
3: 109,470,151 (GRCm39) |
M532K |
possibly damaging |
Het |
Zkscan1 |
T |
C |
5: 138,091,432 (GRCm39) |
F55S |
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 |
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 |
|
Posted On |
2013-11-07 |