Incidental Mutation 'R1129:Zcchc14'
ID |
96491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc14
|
Ensembl Gene |
ENSMUSG00000061410 |
Gene Name |
zinc finger, CCHC domain containing 14 |
Synonyms |
Bdg29 |
MMRRC Submission |
039202-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1129 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
122325442-122379640 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 122335154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046386]
[ENSMUST00000127664]
|
AlphaFold |
Q8VIG0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000046386
AA Change: V322A
|
SMART Domains |
Protein: ENSMUSP00000040360 Gene: ENSMUSG00000061410 AA Change: V322A
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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrm1 |
G |
C |
2: 179,814,712 (GRCm39) |
|
probably benign |
Het |
Bub1b |
A |
T |
2: 118,445,487 (GRCm39) |
D269V |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,535 (GRCm39) |
N828S |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,136,201 (GRCm39) |
S1152P |
unknown |
Het |
Cnnm3 |
T |
C |
1: 36,552,097 (GRCm39) |
L369P |
probably damaging |
Het |
Cxadr |
A |
G |
16: 78,133,321 (GRCm39) |
K360R |
probably benign |
Het |
Dlg2 |
G |
A |
7: 92,080,382 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,238,635 (GRCm39) |
V3779A |
probably benign |
Het |
Fbxo16 |
G |
A |
14: 65,532,981 (GRCm39) |
R161K |
probably benign |
Het |
Gm9726 |
T |
A |
12: 93,895,300 (GRCm39) |
|
noncoding transcript |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,448,662 (GRCm39) |
T337A |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,744,226 (GRCm39) |
L1510S |
probably benign |
Het |
Kansl2 |
T |
C |
15: 98,431,462 (GRCm39) |
Y63C |
probably damaging |
Het |
Lats2 |
T |
C |
14: 57,937,790 (GRCm39) |
E233G |
possibly damaging |
Het |
Naca |
T |
C |
10: 127,876,071 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
G |
T |
19: 46,052,245 (GRCm39) |
A591S |
probably benign |
Het |
Sbsn |
C |
T |
7: 30,452,865 (GRCm39) |
P627S |
probably benign |
Het |
Sema6b |
T |
C |
17: 56,431,347 (GRCm39) |
E772G |
probably benign |
Het |
Tmem33 |
A |
G |
5: 67,421,803 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
A |
G |
14: 123,180,565 (GRCm39) |
|
probably null |
Het |
Ubqlnl |
A |
T |
7: 103,798,857 (GRCm39) |
H213Q |
probably damaging |
Het |
Ugt1a10 |
T |
C |
1: 87,983,331 (GRCm39) |
M43T |
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,886,712 (GRCm39) |
|
probably null |
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 |
|
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 |
R4246:Zcchc14
|
UTSW |
8 |
122,331,031 (GRCm39) |
small deletion |
probably benign |
|
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'- GTGAAATTCTGGTCCCCTCTGACAC -3'
(R):5'- GCTTGGCATACCTCTAAGCTCCTG -3'
Sequencing Primer
(F):5'- GGTCCCCTCTGACACTAAGC -3'
(R):5'- TGGCATCCCATCCTCACAG -3'
|
Posted On |
2014-01-05 |