Incidental Mutation 'R1422:Zfp366'
| ID |
161140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp366
|
| Ensembl Gene |
ENSMUSG00000050919 |
| Gene Name |
zinc finger protein 366 |
| Synonyms |
DC-SCRIPT |
| MMRRC Submission |
039478-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
R1422 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
99321331-99383540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99365804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 322
(K322E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056558]
|
| AlphaFold |
Q6NS86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056558
AA Change: K322E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060040
Gene: ENSMUSG00000050919
AA Change: K322E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
250 |
272 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
278 |
300 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
306 |
328 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
390 |
412 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
418 |
440 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
502 |
524 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
530 |
553 |
2.4e-3 |
SMART |
|
low complexity region
|
615 |
623 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2128 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit perimembranous and muscular ventricular septal defects (VSD), and overriding aorta. Short snout, micrognathia, micropthalmia, hypoplastic thymus, and hydronephrosis are also observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
| Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
| Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
| Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
| Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
| Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp366 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Zfp366
|
APN |
13 |
99,383,080 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01626:Zfp366
|
APN |
13 |
99,364,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02227:Zfp366
|
APN |
13 |
99,370,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03074:Zfp366
|
APN |
13 |
99,382,913 (GRCm39) |
missense |
probably benign |
|
|
R0126:Zfp366
|
UTSW |
13 |
99,365,129 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0145:Zfp366
|
UTSW |
13 |
99,366,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Zfp366
|
UTSW |
13 |
99,370,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Zfp366
|
UTSW |
13 |
99,370,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Zfp366
|
UTSW |
13 |
99,370,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0537:Zfp366
|
UTSW |
13 |
99,365,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Zfp366
|
UTSW |
13 |
99,365,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0838:Zfp366
|
UTSW |
13 |
99,365,118 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1386:Zfp366
|
UTSW |
13 |
99,383,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1669:Zfp366
|
UTSW |
13 |
99,366,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1839:Zfp366
|
UTSW |
13 |
99,365,000 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3751:Zfp366
|
UTSW |
13 |
99,365,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Zfp366
|
UTSW |
13 |
99,382,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Zfp366
|
UTSW |
13 |
99,370,609 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4992:Zfp366
|
UTSW |
13 |
99,366,003 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5040:Zfp366
|
UTSW |
13 |
99,364,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Zfp366
|
UTSW |
13 |
99,365,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Zfp366
|
UTSW |
13 |
99,382,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5249:Zfp366
|
UTSW |
13 |
99,366,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Zfp366
|
UTSW |
13 |
99,366,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Zfp366
|
UTSW |
13 |
99,382,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6838:Zfp366
|
UTSW |
13 |
99,365,015 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7250:Zfp366
|
UTSW |
13 |
99,366,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Zfp366
|
UTSW |
13 |
99,366,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Zfp366
|
UTSW |
13 |
99,382,895 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7624:Zfp366
|
UTSW |
13 |
99,382,804 (GRCm39) |
missense |
probably benign |
|
|
R7653:Zfp366
|
UTSW |
13 |
99,365,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8367:Zfp366
|
UTSW |
13 |
99,380,551 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9510:Zfp366
|
UTSW |
13 |
99,365,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Zfp366
|
UTSW |
13 |
99,365,435 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9734:Zfp366
|
UTSW |
13 |
99,365,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp366
|
UTSW |
13 |
99,382,858 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCCCCACCTGTGAAAAGTC -3'
(R):5'- CACTCCGAGCAGTTGTACTGGATG -3'
Sequencing Primer
(F):5'- TCCAAGTACAACCTGGTGAC -3'
(R):5'- CACACAAATGTTTTCGCGCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation