Incidental Mutation 'R4520:Zcchc14'
| ID |
334184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc14
|
| Ensembl Gene |
ENSMUSG00000061410 |
| Gene Name |
zinc finger, CCHC domain containing 14 |
| Synonyms |
Bdg29 |
| MMRRC Submission |
041763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4520 (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 T
at 122335834 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: M231K
|
| SMART Domains |
Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: M231K
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,776,027 (GRCm39) |
T1739A |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cel |
C |
T |
2: 28,447,980 (GRCm39) |
V349M |
probably benign |
Het |
| Cspp1 |
A |
G |
1: 10,204,452 (GRCm39) |
T1127A |
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,610,982 (GRCm39) |
V113A |
probably benign |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,133 (GRCm39) |
T159A |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,104,373 (GRCm39) |
D304G |
possibly damaging |
Het |
| Esr2 |
G |
A |
12: 76,214,323 (GRCm39) |
P43S |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Gm5444 |
A |
G |
13: 4,884,225 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
T |
A |
5: 110,351,617 (GRCm39) |
L790* |
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,255,725 (GRCm39) |
T105A |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,066,194 (GRCm39) |
E24G |
probably damaging |
Het |
| Ihh |
T |
A |
1: 74,990,109 (GRCm39) |
I89F |
probably damaging |
Het |
| Krt13 |
A |
G |
11: 100,010,174 (GRCm39) |
M269T |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,950,530 (GRCm39) |
H952R |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,778,579 (GRCm39) |
F2041L |
possibly damaging |
Het |
| Msmo1 |
A |
C |
8: 65,173,557 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
A |
G |
5: 3,940,992 (GRCm39) |
V292A |
probably damaging |
Het |
| Naxe |
A |
G |
3: 87,965,289 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Or51h5 |
A |
T |
7: 102,577,764 (GRCm39) |
I310F |
probably benign |
Het |
| Or56b1 |
T |
A |
7: 104,285,376 (GRCm39) |
V165E |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,363 (GRCm39) |
D52G |
probably benign |
Het |
| Otog |
T |
A |
7: 45,890,477 (GRCm39) |
|
probably benign |
Het |
| Pigo |
A |
T |
4: 43,020,301 (GRCm39) |
H880Q |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Pole |
T |
A |
5: 110,445,790 (GRCm39) |
D555E |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,071,169 (GRCm39) |
V403A |
probably damaging |
Het |
| Psg28 |
T |
A |
7: 18,156,826 (GRCm39) |
M470L |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,389,746 (GRCm39) |
T1138A |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpinb9c |
T |
C |
13: 33,335,840 (GRCm39) |
|
probably null |
Het |
| Sh2d6 |
T |
C |
6: 72,495,936 (GRCm39) |
N101D |
possibly damaging |
Het |
| Shisa8 |
C |
G |
15: 82,096,163 (GRCm39) |
V151L |
possibly damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,134,512 (GRCm39) |
T124A |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,688,975 (GRCm39) |
V100M |
possibly damaging |
Het |
| Sspn |
A |
G |
6: 145,907,033 (GRCm39) |
T79A |
probably benign |
Het |
| Tlr8 |
C |
T |
X: 166,026,171 (GRCm39) |
R893H |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,717,905 (GRCm39) |
K2183R |
unknown |
Het |
| Trim15 |
T |
C |
17: 37,177,242 (GRCm39) |
I139M |
probably benign |
Het |
| Trmt13 |
A |
T |
3: 116,375,262 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,391 (GRCm39) |
T610S |
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 |
|
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 |
|
|
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'- AAATGGTACCCGTAGATCATGAG -3'
(R):5'- CTTCTCACACGCTGAAGCAC -3'
Sequencing Primer
(F):5'- GGTACCCGTAGATCATGAGTTCAAAC -3'
(R):5'- CGACCACGTTAGGAAGTTCTTCAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation