Incidental Mutation 'R5897:Zcchc14'
| ID |
457593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc14
|
| Ensembl Gene |
ENSMUSG00000061410 |
| Gene Name |
zinc finger, CCHC domain containing 14 |
| Synonyms |
Bdg29 |
| MMRRC Submission |
044096-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5897 (G1)
|
| Quality Score |
131 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
122325442-122379640 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 122331899 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: N488S
|
| SMART Domains |
Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: N488S
| 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: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,425,032 (GRCm39) |
T489A |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,187,244 (GRCm39) |
T416A |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,780,508 (GRCm39) |
I494V |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,127,904 (GRCm39) |
S3747P |
probably benign |
Het |
| Arhgef18 |
G |
T |
8: 3,489,682 (GRCm39) |
R338L |
probably damaging |
Het |
| Atg16l1 |
G |
T |
1: 87,713,719 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
G |
15: 76,010,339 (GRCm39) |
S56P |
possibly damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,308 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,206,578 (GRCm39) |
I223L |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,798,280 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
A |
18: 67,771,398 (GRCm39) |
Q78L |
probably benign |
Het |
| Cyp20a1 |
A |
C |
1: 60,392,220 (GRCm39) |
N92T |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,975 (GRCm39) |
D281G |
probably benign |
Het |
| Cyp2j12 |
T |
C |
4: 95,990,279 (GRCm39) |
N429S |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,192,717 (GRCm39) |
V1721I |
possibly damaging |
Het |
| Elovl4 |
G |
A |
9: 83,672,157 (GRCm39) |
T54M |
possibly damaging |
Het |
| Fam13b |
A |
G |
18: 34,587,134 (GRCm39) |
V542A |
possibly damaging |
Het |
| Gje1 |
A |
T |
10: 14,592,467 (GRCm39) |
I105N |
probably damaging |
Het |
| Grm4 |
G |
T |
17: 27,654,137 (GRCm39) |
F349L |
probably benign |
Het |
| Hsd17b3 |
A |
G |
13: 64,236,799 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
T |
4: 129,614,448 (GRCm39) |
D368E |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,258,792 (GRCm39) |
R32* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
| Or2i1 |
A |
T |
17: 37,508,151 (GRCm39) |
L161Q |
probably damaging |
Het |
| Or2t1 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pbx3 |
A |
T |
2: 34,261,920 (GRCm39) |
S5T |
probably benign |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,264 (GRCm39) |
V214E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,829,176 (GRCm39) |
D1022G |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,740,899 (GRCm39) |
K380I |
probably damaging |
Het |
| Prl3b1 |
A |
G |
13: 27,429,858 (GRCm39) |
T99A |
probably benign |
Het |
| Prr12 |
C |
T |
7: 44,692,808 (GRCm39) |
V1575I |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,729,262 (GRCm39) |
V451I |
probably benign |
Het |
| Rab1a |
C |
T |
11: 20,168,867 (GRCm39) |
R51* |
probably null |
Het |
| Skint9 |
A |
G |
4: 112,271,113 (GRCm39) |
I99T |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,190 (GRCm39) |
V394A |
possibly damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,984 (GRCm39) |
C1822* |
probably null |
Het |
| Tdrd6 |
T |
A |
17: 43,935,768 (GRCm39) |
D1760V |
probably damaging |
Het |
| Tinag |
C |
A |
9: 76,952,726 (GRCm39) |
C86F |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,459 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmub1 |
G |
A |
5: 24,651,925 (GRCm39) |
T13M |
probably benign |
Het |
| Txn2 |
G |
A |
15: 77,808,726 (GRCm39) |
A135V |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,553,935 (GRCm39) |
G3475R |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,732,082 (GRCm39) |
D276G |
probably benign |
Het |
| Vax1 |
T |
A |
19: 59,158,233 (GRCm39) |
I77F |
unknown |
Het |
| Vmn2r108 |
C |
T |
17: 20,691,580 (GRCm39) |
M314I |
probably benign |
Het |
| Vmn2r4 |
C |
A |
3: 64,322,687 (GRCm39) |
G11* |
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 |
|
|
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 |
|
|
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'- ACCTTCGTGCCACTTCTAGG -3'
(R):5'- CGTAAGATCCTTGTGCTGGG -3'
Sequencing Primer
(F):5'- TCGTGCCACTTCTAGGACCAG -3'
(R):5'- ATCCTTGTGCTGGGGCCTG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation