Incidental Mutation 'R6592:Zcchc14'
| ID |
524646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc14
|
| Ensembl Gene |
ENSMUSG00000061410 |
| Gene Name |
zinc finger, CCHC domain containing 14 |
| Synonyms |
Bdg29 |
| MMRRC Submission |
044716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6592 (G1)
|
| Quality Score |
99.0078 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122325442-122379640 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 122331378 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: T662A
|
| SMART Domains |
Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: T662A
| 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 |
|
| Meta Mutation Damage Score |
0.0763 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
| Btbd17 |
T |
C |
11: 114,682,302 (GRCm39) |
Y470C |
probably damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
| Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
| Lysmd1 |
A |
G |
3: 95,045,197 (GRCm39) |
S148G |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
| Or4a67 |
G |
A |
2: 88,598,471 (GRCm39) |
H63Y |
probably damaging |
Het |
| Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
| Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
| Slc51a |
T |
C |
16: 32,294,621 (GRCm39) |
D321G |
probably damaging |
Het |
| Tchhl1 |
T |
A |
3: 93,378,116 (GRCm39) |
D273E |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,544,497 (GRCm39) |
R713C |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly 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 |
|
|
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 |
|
|
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'- CCATGCTCGCAAAAGAAGTGG -3'
(R):5'- GTAGAGAACAACGCGGTGTC -3'
Sequencing Primer
(F):5'- AAGTGGAGGGGTGGCTGC -3'
(R):5'- CCAAAGTTGTGCATGCAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation