Incidental Mutation 'R5918:Zfp616'
ID |
461482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
044115-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5918 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73974086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 118
(H118Q)
|
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 |
possibly damaging
Transcript: ENSMUST00000108463
AA Change: H209Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104103 Gene: ENSMUSG00000069476 AA Change: H209Q
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 |
possibly damaging
Transcript: ENSMUST00000178159
AA Change: H118Q
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: H118Q
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
93% (66/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
A |
T |
5: 36,131,869 (GRCm39) |
I399F |
possibly damaging |
Het |
Aknad1 |
C |
T |
3: 108,659,703 (GRCm39) |
P239L |
probably benign |
Het |
Ankrd9 |
A |
G |
12: 110,943,200 (GRCm39) |
V245A |
probably benign |
Het |
Anxa1 |
T |
C |
19: 20,355,857 (GRCm39) |
|
probably benign |
Het |
Arhgef2 |
A |
G |
3: 88,543,387 (GRCm39) |
K454R |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,708,064 (GRCm39) |
T227A |
probably benign |
Het |
Bbs2 |
C |
T |
8: 94,824,931 (GRCm39) |
R17H |
probably damaging |
Het |
Bcl2l12 |
A |
G |
7: 44,640,888 (GRCm39) |
|
probably benign |
Het |
C1qtnf9 |
G |
T |
14: 61,009,737 (GRCm39) |
|
probably benign |
Het |
Ccdc38 |
C |
G |
10: 93,406,748 (GRCm39) |
Y219* |
probably null |
Het |
Ceacam3 |
G |
T |
7: 16,893,670 (GRCm39) |
D394Y |
probably damaging |
Het |
Crip1 |
A |
C |
12: 113,117,287 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,260,803 (GRCm39) |
V1987A |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,725,025 (GRCm39) |
C4376F |
probably damaging |
Het |
Galnt9 |
T |
C |
5: 110,763,332 (GRCm39) |
F446L |
probably damaging |
Het |
Garin1a |
A |
G |
6: 29,285,942 (GRCm39) |
R76G |
probably null |
Het |
Gm14322 |
A |
G |
2: 177,411,499 (GRCm39) |
D103G |
probably benign |
Het |
Gpa33 |
T |
C |
1: 165,958,107 (GRCm39) |
|
probably null |
Het |
Lactb2 |
T |
A |
1: 13,720,954 (GRCm39) |
I93F |
probably benign |
Het |
Lifr |
A |
T |
15: 7,188,897 (GRCm39) |
T93S |
probably benign |
Het |
Lmbr1l |
A |
T |
15: 98,810,308 (GRCm39) |
I101N |
probably damaging |
Het |
Lrrc8c |
G |
A |
5: 105,756,117 (GRCm39) |
V631M |
possibly damaging |
Het |
Mctp2 |
A |
C |
7: 71,878,288 (GRCm39) |
D263E |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,307,051 (GRCm39) |
I1627N |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,087,906 (GRCm39) |
Y5188C |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,460,048 (GRCm39) |
|
probably benign |
Het |
Nr6a1 |
T |
C |
2: 38,629,103 (GRCm39) |
D250G |
probably damaging |
Het |
Ola1 |
T |
C |
2: 72,987,128 (GRCm39) |
E168G |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,944 (GRCm39) |
V205A |
probably damaging |
Het |
Or2d2b |
T |
A |
7: 106,705,828 (GRCm39) |
Q80L |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,425 (GRCm39) |
I83T |
probably benign |
Het |
Or7g22 |
T |
C |
9: 19,048,684 (GRCm39) |
Y132H |
probably damaging |
Het |
Or9i1b |
T |
A |
19: 13,897,139 (GRCm39) |
F252I |
probably damaging |
Het |
Pik3r6 |
C |
T |
11: 68,416,497 (GRCm39) |
Q29* |
probably null |
Het |
Ppargc1a |
C |
T |
5: 51,620,579 (GRCm39) |
|
probably benign |
Het |
Ppl |
C |
T |
16: 4,922,765 (GRCm39) |
R242H |
probably benign |
Het |
Ppp1r37 |
G |
T |
7: 19,266,036 (GRCm39) |
Q577K |
probably benign |
Het |
Prcd |
A |
G |
11: 116,548,366 (GRCm39) |
E25G |
probably damaging |
Het |
Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
Ptgs1 |
A |
C |
2: 36,141,089 (GRCm39) |
E512A |
probably damaging |
Het |
Radil |
T |
G |
5: 142,473,357 (GRCm39) |
I535L |
probably benign |
Het |
Rbl2 |
G |
T |
8: 91,816,758 (GRCm39) |
V373F |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,708,577 (GRCm39) |
Y4802C |
probably benign |
Het |
Sdc2 |
A |
G |
15: 33,028,313 (GRCm39) |
T144A |
probably benign |
Het |
Senp6 |
T |
C |
9: 80,021,398 (GRCm39) |
|
probably null |
Het |
Sipa1l3 |
T |
C |
7: 29,096,631 (GRCm39) |
D531G |
probably damaging |
Het |
Slc22a27 |
C |
A |
19: 7,887,411 (GRCm39) |
C189F |
possibly damaging |
Het |
Srcin1 |
T |
C |
11: 97,424,323 (GRCm39) |
|
probably null |
Het |
Svep1 |
C |
T |
4: 58,069,345 (GRCm39) |
E2814K |
possibly damaging |
Het |
Tjp3 |
T |
G |
10: 81,113,746 (GRCm39) |
H504P |
probably benign |
Het |
Tmprss4 |
T |
A |
9: 45,086,414 (GRCm39) |
K378* |
probably null |
Het |
Tns4 |
C |
T |
11: 98,964,497 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,580,298 (GRCm39) |
T15205A |
possibly damaging |
Het |
Ush2a |
G |
T |
1: 188,089,011 (GRCm39) |
G322V |
probably benign |
Het |
Vac14 |
A |
T |
8: 111,363,104 (GRCm39) |
|
probably null |
Het |
Vmn1r175 |
T |
G |
7: 23,508,372 (GRCm39) |
D85A |
probably damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,030 (GRCm39) |
L634P |
probably damaging |
Het |
Zeb2 |
A |
T |
2: 45,001,271 (GRCm39) |
|
probably benign |
Het |
Zfp945 |
T |
A |
17: 23,069,955 (GRCm39) |
H648L |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
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 |
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'- AAAGGAGTTCTAGCTATTCCTGAGAG -3'
(R):5'- ACCTTCCACATGATATGTTCCAAG -3'
Sequencing Primer
(F):5'- GTTCTAGCTATTCCTGAGAGAACTC -3'
(R):5'- CCAAGTTTCACTGCATACATGG -3'
|
Posted On |
2017-02-28 |