Incidental Mutation 'R4246:Zcchc14'
ID |
320427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc14
|
Ensembl Gene |
ENSMUSG00000061410 |
Gene Name |
zinc finger, CCHC domain containing 14 |
Synonyms |
Bdg29 |
MMRRC Submission |
041062-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4246 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
122325442-122379640 bp(-) (GRCm39) |
Type of Mutation |
small deletion (4 aa in frame mutation) |
DNA Base Change (assembly) |
CTGATGGTGGTGGTGATGGTGGTGG to CTGATGGTGGTGG
at 122331031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046386]
[ENSMUST00000127664]
|
AlphaFold |
Q8VIG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046386
|
SMART Domains |
Protein: ENSMUSP00000040360 Gene: ENSMUSG00000061410
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
low complexity region
|
129 |
145 |
N/A |
INTRINSIC |
low complexity region
|
206 |
225 |
N/A |
INTRINSIC |
low complexity region
|
246 |
265 |
N/A |
INTRINSIC |
Blast:SAM
|
299 |
349 |
2e-25 |
BLAST |
SCOP:d1kw4a_
|
307 |
358 |
1e-6 |
SMART |
low complexity region
|
422 |
432 |
N/A |
INTRINSIC |
low complexity region
|
438 |
454 |
N/A |
INTRINSIC |
low complexity region
|
532 |
543 |
N/A |
INTRINSIC |
low complexity region
|
709 |
790 |
N/A |
INTRINSIC |
low complexity region
|
791 |
808 |
N/A |
INTRINSIC |
ZnF_C2HC
|
914 |
930 |
3.44e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134212
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154725
|
SMART Domains |
Protein: ENSMUSP00000120570 Gene: ENSMUSG00000061410
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
88 |
N/A |
INTRINSIC |
low complexity region
|
89 |
106 |
N/A |
INTRINSIC |
ZnF_C2HC
|
212 |
228 |
3.44e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
Lrfn1 |
G |
T |
7: 28,159,367 (GRCm39) |
V429L |
probably benign |
Het |
Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
Nr4a3 |
C |
T |
4: 48,083,125 (GRCm39) |
P553S |
possibly damaging |
Het |
Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
Rnf14 |
T |
A |
18: 38,434,701 (GRCm39) |
|
probably null |
Het |
Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sh3d19 |
G |
A |
3: 86,033,995 (GRCm39) |
V783I |
probably benign |
Het |
Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
Wars2 |
T |
A |
3: 99,123,904 (GRCm39) |
V255E |
probably damaging |
Het |
|
Other mutations in Zcchc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02035:Zcchc14
|
APN |
8 |
122,331,354 (GRCm39) |
unclassified |
probably benign |
|
IGL02060:Zcchc14
|
APN |
8 |
122,330,634 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02455:Zcchc14
|
APN |
8 |
122,333,009 (GRCm39) |
unclassified |
probably benign |
|
IGL03196:Zcchc14
|
APN |
8 |
122,335,877 (GRCm39) |
unclassified |
probably benign |
|
P0033:Zcchc14
|
UTSW |
8 |
122,336,898 (GRCm39) |
intron |
probably benign |
|
R0483:Zcchc14
|
UTSW |
8 |
122,355,388 (GRCm39) |
intron |
probably benign |
|
R0639:Zcchc14
|
UTSW |
8 |
122,332,188 (GRCm39) |
nonsense |
probably null |
|
R1013:Zcchc14
|
UTSW |
8 |
122,333,664 (GRCm39) |
unclassified |
probably benign |
|
R1129:Zcchc14
|
UTSW |
8 |
122,335,154 (GRCm39) |
unclassified |
probably benign |
|
R1546:Zcchc14
|
UTSW |
8 |
122,331,002 (GRCm39) |
intron |
probably benign |
|
R1563:Zcchc14
|
UTSW |
8 |
122,330,718 (GRCm39) |
missense |
probably benign |
0.10 |
R1861:Zcchc14
|
UTSW |
8 |
122,335,990 (GRCm39) |
unclassified |
probably benign |
|
R2200:Zcchc14
|
UTSW |
8 |
122,332,167 (GRCm39) |
unclassified |
probably benign |
|
R2419:Zcchc14
|
UTSW |
8 |
122,330,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R4249:Zcchc14
|
UTSW |
8 |
122,331,031 (GRCm39) |
small deletion |
probably benign |
|
R4424:Zcchc14
|
UTSW |
8 |
122,378,680 (GRCm39) |
intron |
probably benign |
|
R4470:Zcchc14
|
UTSW |
8 |
122,378,498 (GRCm39) |
intron |
probably benign |
|
R4520:Zcchc14
|
UTSW |
8 |
122,335,834 (GRCm39) |
unclassified |
probably benign |
|
R4681:Zcchc14
|
UTSW |
8 |
122,335,339 (GRCm39) |
unclassified |
probably benign |
|
R5253:Zcchc14
|
UTSW |
8 |
122,345,433 (GRCm39) |
intron |
probably benign |
|
R5314:Zcchc14
|
UTSW |
8 |
122,335,337 (GRCm39) |
unclassified |
probably benign |
|
R5591:Zcchc14
|
UTSW |
8 |
122,332,187 (GRCm39) |
unclassified |
probably benign |
|
R5746:Zcchc14
|
UTSW |
8 |
122,331,378 (GRCm39) |
unclassified |
probably benign |
|
R5781:Zcchc14
|
UTSW |
8 |
122,331,332 (GRCm39) |
unclassified |
probably benign |
|
R5897:Zcchc14
|
UTSW |
8 |
122,331,899 (GRCm39) |
unclassified |
probably benign |
|
R5930:Zcchc14
|
UTSW |
8 |
122,338,097 (GRCm39) |
intron |
probably benign |
|
R5963:Zcchc14
|
UTSW |
8 |
122,355,362 (GRCm39) |
intron |
probably benign |
|
R6364:Zcchc14
|
UTSW |
8 |
122,331,598 (GRCm39) |
unclassified |
probably benign |
|
R6562:Zcchc14
|
UTSW |
8 |
122,330,842 (GRCm39) |
missense |
probably damaging |
0.99 |
R6579:Zcchc14
|
UTSW |
8 |
122,331,206 (GRCm39) |
intron |
probably benign |
|
R6592:Zcchc14
|
UTSW |
8 |
122,331,378 (GRCm39) |
unclassified |
probably benign |
|
R6699:Zcchc14
|
UTSW |
8 |
122,335,355 (GRCm39) |
unclassified |
probably benign |
|
R7195:Zcchc14
|
UTSW |
8 |
122,335,200 (GRCm39) |
missense |
unknown |
|
R7420:Zcchc14
|
UTSW |
8 |
122,378,530 (GRCm39) |
intron |
probably benign |
|
R7490:Zcchc14
|
UTSW |
8 |
122,331,756 (GRCm39) |
missense |
unknown |
|
R7597:Zcchc14
|
UTSW |
8 |
122,335,239 (GRCm39) |
missense |
unknown |
|
R7758:Zcchc14
|
UTSW |
8 |
122,331,428 (GRCm39) |
missense |
unknown |
|
R7773:Zcchc14
|
UTSW |
8 |
122,378,514 (GRCm39) |
missense |
unknown |
|
R7831:Zcchc14
|
UTSW |
8 |
122,331,984 (GRCm39) |
missense |
not run |
|
R7889:Zcchc14
|
UTSW |
8 |
122,331,634 (GRCm39) |
missense |
unknown |
|
R7919:Zcchc14
|
UTSW |
8 |
122,330,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R9000:Zcchc14
|
UTSW |
8 |
122,336,880 (GRCm39) |
missense |
unknown |
|
R9124:Zcchc14
|
UTSW |
8 |
122,331,969 (GRCm39) |
missense |
unknown |
|
R9667:Zcchc14
|
UTSW |
8 |
122,331,863 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACATAGCCATTGCCACACATG -3'
(R):5'- TCTGCGCCAATAGCAACACTG -3'
Sequencing Primer
(F):5'- CCACACATGGGACTGAAGG -3'
(R):5'- ACTGCCTCCCCCAGCAG -3'
|
Posted On |
2015-06-12 |