Incidental Mutation 'R8808:Zfp616'
ID |
672230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp616
|
Ensembl Gene |
ENSMUSG00000069476 |
Gene Name |
zinc finger protein 616 |
Synonyms |
Gm12330 |
MMRRC Submission |
068644-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8808 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
73960781-73978118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 73976523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 931
(C931G)
|
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: C931G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136549 Gene: ENSMUSG00000069476 AA Change: C931G
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
95% (60/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,775,874 (GRCm39) |
P1688S |
probably benign |
Het |
4933412E24Rik |
T |
C |
15: 59,887,919 (GRCm39) |
T174A |
probably benign |
Het |
Actl10 |
T |
A |
2: 154,395,068 (GRCm39) |
L340Q |
probably damaging |
Het |
Adra1d |
T |
C |
2: 131,403,397 (GRCm39) |
E231G |
probably damaging |
Het |
Agt |
T |
A |
8: 125,291,028 (GRCm39) |
D93V |
probably benign |
Het |
Als2cl |
G |
T |
9: 110,718,282 (GRCm39) |
R341L |
possibly damaging |
Het |
Ankrd63 |
G |
T |
2: 118,533,549 (GRCm39) |
A124E |
unknown |
Het |
Aqp8 |
T |
C |
7: 123,065,922 (GRCm39) |
L239P |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,593,336 (GRCm39) |
E85G |
probably damaging |
Het |
Cacng4 |
T |
A |
11: 107,685,209 (GRCm39) |
I28F |
possibly damaging |
Het |
Cc2d1a |
T |
C |
8: 84,861,599 (GRCm39) |
D741G |
probably damaging |
Het |
Cct8l1 |
T |
A |
5: 25,722,210 (GRCm39) |
N308K |
possibly damaging |
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Chrna5 |
T |
A |
9: 54,905,348 (GRCm39) |
D53E |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,835,514 (GRCm39) |
|
probably null |
Het |
Disp2 |
A |
G |
2: 118,620,489 (GRCm39) |
Y407C |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 31,008,771 (GRCm39) |
M2001T |
probably benign |
Het |
Dysf |
C |
G |
6: 83,996,466 (GRCm39) |
|
probably benign |
Het |
Eif2ak1 |
A |
T |
5: 143,816,264 (GRCm39) |
K187N |
probably damaging |
Het |
Ethe1 |
T |
C |
7: 24,294,496 (GRCm39) |
S100P |
probably damaging |
Het |
Fam186a |
G |
C |
15: 99,842,604 (GRCm39) |
I1213M |
possibly damaging |
Het |
Gbp9 |
A |
G |
5: 105,232,875 (GRCm39) |
F259S |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,072,834 (GRCm39) |
H1610Y |
possibly damaging |
Het |
Hk2 |
T |
A |
6: 82,705,747 (GRCm39) |
D852V |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,531,570 (GRCm39) |
Q3233L |
possibly damaging |
Het |
Htt |
T |
A |
5: 35,046,791 (GRCm39) |
V2369E |
probably benign |
Het |
Il9 |
C |
A |
13: 56,629,942 (GRCm39) |
E35* |
probably null |
Het |
Itga8 |
A |
T |
2: 12,137,328 (GRCm39) |
C933* |
probably null |
Het |
Jak3 |
A |
G |
8: 72,138,164 (GRCm39) |
K872E |
possibly damaging |
Het |
Kcnmb2 |
A |
C |
3: 32,252,266 (GRCm39) |
M156L |
probably benign |
Het |
Kdm4a |
C |
T |
4: 117,999,480 (GRCm39) |
V981I |
unknown |
Het |
Klhl38 |
A |
T |
15: 58,178,225 (GRCm39) |
*582R |
probably null |
Het |
Map3k19 |
A |
G |
1: 127,751,866 (GRCm39) |
F495S |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,440,443 (GRCm39) |
W634R |
probably damaging |
Het |
Mrpl4 |
T |
A |
9: 20,918,978 (GRCm39) |
Y202N |
possibly damaging |
Het |
Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
Or4k36 |
A |
T |
2: 111,146,239 (GRCm39) |
R138S |
possibly damaging |
Het |
Or8k33 |
G |
A |
2: 86,384,297 (GRCm39) |
T57M |
probably damaging |
Het |
Pcdhgb6 |
A |
G |
18: 37,876,451 (GRCm39) |
I386M |
possibly damaging |
Het |
Pitpnm1 |
T |
A |
19: 4,162,356 (GRCm39) |
V1062E |
possibly damaging |
Het |
Plekhm3 |
G |
A |
1: 64,922,355 (GRCm39) |
R607W |
possibly damaging |
Het |
Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
Prap1 |
C |
A |
7: 139,676,982 (GRCm39) |
H141Q |
probably damaging |
Het |
Prep |
T |
A |
10: 44,971,252 (GRCm39) |
Y187* |
probably null |
Het |
Rergl |
T |
G |
6: 139,478,865 (GRCm39) |
E3A |
probably benign |
Het |
Rnf19a |
A |
T |
15: 36,242,021 (GRCm39) |
S673T |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,880,826 (GRCm39) |
E440K |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,309,074 (GRCm39) |
Q645L |
probably damaging |
Het |
Tmcc1 |
C |
A |
6: 116,111,099 (GRCm39) |
V61L |
|
Het |
Tmcc1 |
A |
T |
6: 116,111,098 (GRCm39) |
V61E |
|
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Tmem201 |
C |
A |
4: 149,814,138 (GRCm39) |
R154L |
possibly damaging |
Het |
Tmem71 |
G |
A |
15: 66,410,655 (GRCm39) |
A239V |
possibly damaging |
Het |
Tpgs2 |
A |
G |
18: 25,284,275 (GRCm39) |
W78R |
probably damaging |
Het |
Tssc4 |
T |
C |
7: 142,623,436 (GRCm39) |
V22A |
unknown |
Het |
Ttn |
T |
A |
2: 76,723,128 (GRCm39) |
E6496D |
unknown |
Het |
Ttn |
T |
A |
2: 76,697,539 (GRCm39) |
L227F |
|
Het |
Vps50 |
G |
T |
6: 3,522,338 (GRCm39) |
G169* |
probably null |
Het |
Yy1 |
CGGCGACCACGGCGGCGGCGGGGGCG |
CGGCG |
12: 108,759,506 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,361,185 (GRCm39) |
K1703R |
probably benign |
Het |
Zfp949 |
G |
A |
9: 88,451,417 (GRCm39) |
C329Y |
probably damaging |
Het |
Zswim5 |
T |
A |
4: 116,822,887 (GRCm39) |
D452E |
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 |
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 |
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'- TGCCCAGTCTTCAAATCTTCA -3'
(R):5'- AAGCTTGTAGTTTTGAGGACTGT -3'
Sequencing Primer
(F):5'- TCTTCAAGTTCATCAGAGAATCCAC -3'
(R):5'- GAGGACTGTGTAAATGATTTCCCAC -3'
|
Posted On |
2021-04-30 |