Incidental Mutation 'R2200:Zcchc14'
| ID |
238612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc14
|
| Ensembl Gene |
ENSMUSG00000061410 |
| Gene Name |
zinc finger, CCHC domain containing 14 |
| Synonyms |
Bdg29 |
| MMRRC Submission |
040202-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2200 (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 122332167 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: Y426N
|
| SMART Domains |
Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: Y426N
| 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: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
| B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,016,815 (GRCm39) |
M339L |
possibly damaging |
Het |
| Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
| Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
| Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
| Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
| Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
| Fus |
T |
A |
7: 127,576,400 (GRCm39) |
N273K |
probably damaging |
Het |
| Ipo13 |
A |
C |
4: 117,762,100 (GRCm39) |
|
probably null |
Het |
| Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
| Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
| Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,787 (GRCm39) |
D66G |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
| Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,351 (GRCm39) |
D421E |
probably benign |
Het |
| Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
| Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
| Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
| Sun1 |
C |
A |
5: 139,216,974 (GRCm39) |
R338S |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
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 |
|
|
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'- TGTGCACGGAGTTCAGCATG -3'
(R):5'- GTACCACCTTGAGTGCTTGGTG -3'
Sequencing Primer
(F):5'- TCAGTCCCCTCGACATGGATG -3'
(R):5'- TGCAGTTTTCAGATTCTTGAAGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation