Incidental Mutation 'R6737:Zc3h14'
ID |
530265 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h14
|
Ensembl Gene |
ENSMUSG00000021012 |
Gene Name |
zinc finger CCCH type containing 14 |
Synonyms |
2700069A02Rik, 1010001P15Rik, 1700016A15Rik |
MMRRC Submission |
044855-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6737 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
98713223-98754012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98751305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 667
(K667E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021399]
[ENSMUST00000057000]
[ENSMUST00000065716]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000221532]
[ENSMUST00000223282]
|
AlphaFold |
Q8BJ05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021399
AA Change: K241E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000021399 Gene: ENSMUSG00000021012 AA Change: K241E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
coiled coil region
|
69 |
91 |
N/A |
INTRINSIC |
ZnF_C3H1
|
170 |
193 |
7.16e-1 |
SMART |
ZnF_C3H1
|
195 |
214 |
5.27e1 |
SMART |
ZnF_C3H1
|
250 |
272 |
5.55e0 |
SMART |
Pfam:zf-CCCH_2
|
273 |
290 |
1.3e-3 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057000
AA Change: K511E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055879 Gene: ENSMUSG00000021012 AA Change: K511E
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ZnF_C3H1
|
440 |
463 |
7.16e-1 |
SMART |
ZnF_C3H1
|
465 |
484 |
5.27e1 |
SMART |
ZnF_C3H1
|
520 |
542 |
5.55e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065716
|
SMART Domains |
Protein: ENSMUSP00000065643 Gene: ENSMUSG00000051166
Domain | Start | End | E-Value | Type |
Pfam:HELP
|
1 |
49 |
3.3e-21 |
PFAM |
WD40
|
50 |
91 |
6.42e-1 |
SMART |
WD40
|
94 |
136 |
1.08e-4 |
SMART |
WD40
|
139 |
178 |
1.27e-1 |
SMART |
WD40
|
184 |
224 |
2.75e1 |
SMART |
WD40
|
225 |
263 |
2.65e-4 |
SMART |
Blast:WD40
|
265 |
312 |
2e-22 |
BLAST |
WD40
|
313 |
353 |
4.69e-5 |
SMART |
WD40
|
356 |
394 |
2.2e2 |
SMART |
WD40
|
397 |
436 |
8.59e-1 |
SMART |
WD40
|
444 |
479 |
6.6e1 |
SMART |
WD40
|
505 |
546 |
2.74e2 |
SMART |
WD40
|
552 |
592 |
4.8e-2 |
SMART |
low complexity region
|
609 |
632 |
N/A |
INTRINSIC |
Pfam:HELP
|
656 |
715 |
1.4e-20 |
PFAM |
WD40
|
716 |
757 |
1.18e-1 |
SMART |
WD40
|
760 |
802 |
2.84e-4 |
SMART |
WD40
|
805 |
844 |
1.91e1 |
SMART |
WD40
|
853 |
891 |
2.64e2 |
SMART |
WD40
|
892 |
929 |
3.45e-3 |
SMART |
WD40
|
985 |
1026 |
4.55e-3 |
SMART |
WD40
|
1029 |
1068 |
6.39e0 |
SMART |
WD40
|
1071 |
1111 |
5.15e-2 |
SMART |
WD40
|
1180 |
1221 |
1.9e2 |
SMART |
WD40
|
1227 |
1267 |
1.38e0 |
SMART |
low complexity region
|
1280 |
1297 |
N/A |
INTRINSIC |
Pfam:HELP
|
1335 |
1410 |
2.4e-16 |
PFAM |
Blast:WD40
|
1412 |
1462 |
8e-28 |
BLAST |
WD40
|
1465 |
1507 |
1.56e-1 |
SMART |
WD40
|
1510 |
1549 |
2.06e0 |
SMART |
WD40
|
1558 |
1597 |
8.22e1 |
SMART |
WD40
|
1599 |
1644 |
4.26e1 |
SMART |
WD40
|
1690 |
1730 |
2.19e-5 |
SMART |
WD40
|
1774 |
1813 |
5.97e-1 |
SMART |
WD40
|
1884 |
1925 |
2.39e0 |
SMART |
WD40
|
1931 |
1971 |
2.88e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110104
AA Change: K536E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105731 Gene: ENSMUSG00000021012 AA Change: K536E
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ZnF_C3H1
|
465 |
488 |
7.16e-1 |
SMART |
ZnF_C3H1
|
490 |
509 |
5.27e1 |
SMART |
ZnF_C3H1
|
545 |
567 |
5.55e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110105
AA Change: K667E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105732 Gene: ENSMUSG00000021012 AA Change: K667E
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ZnF_C3H1
|
596 |
619 |
7.16e-1 |
SMART |
ZnF_C3H1
|
621 |
640 |
5.27e1 |
SMART |
ZnF_C3H1
|
676 |
698 |
5.55e0 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220660
AA Change: K32E
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221532
AA Change: K174E
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221576
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223451
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016] PHENOTYPE: Homozygous knockout results in impaired spatial working memory, enlarged anterior lateral ventricles in the brain, small testes and reduced litter size. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
C |
16: 88,504,456 (GRCm39) |
R114G |
probably damaging |
Het |
Atm |
A |
T |
9: 53,397,351 (GRCm39) |
S1661T |
probably benign |
Het |
Castor1 |
A |
G |
11: 4,171,685 (GRCm39) |
D303G |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,245,262 (GRCm39) |
A188T |
probably benign |
Het |
Cecr2 |
G |
T |
6: 120,714,084 (GRCm39) |
L225F |
possibly damaging |
Het |
Cep295 |
A |
G |
9: 15,243,647 (GRCm39) |
V1603A |
possibly damaging |
Het |
Clec4g |
T |
C |
8: 3,757,716 (GRCm39) |
|
probably benign |
Het |
Clptm1 |
A |
T |
7: 19,371,001 (GRCm39) |
|
probably null |
Het |
Crybg2 |
G |
T |
4: 133,800,001 (GRCm39) |
G387V |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,391,140 (GRCm39) |
M249K |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 30,966,980 (GRCm39) |
S952* |
probably null |
Het |
Cxcr2 |
T |
C |
1: 74,197,790 (GRCm39) |
F95L |
probably benign |
Het |
Ddx55 |
C |
A |
5: 124,691,008 (GRCm39) |
T5K |
probably damaging |
Het |
Depp1 |
G |
T |
6: 116,629,058 (GRCm39) |
V134L |
possibly damaging |
Het |
Eif2ak2 |
T |
C |
17: 79,171,377 (GRCm39) |
N342S |
probably benign |
Het |
Eif2ak4 |
TGG |
TG |
2: 118,292,749 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
C |
G |
10: 25,364,916 (GRCm39) |
|
probably null |
Het |
Fam234b |
A |
G |
6: 135,205,513 (GRCm39) |
K493E |
probably damaging |
Het |
Fndc7 |
C |
A |
3: 108,779,594 (GRCm39) |
V317L |
probably damaging |
Het |
Fpr-rs6 |
T |
C |
17: 20,403,339 (GRCm39) |
I7M |
probably benign |
Het |
Gal3st1 |
T |
A |
11: 3,948,903 (GRCm39) |
I370N |
probably benign |
Het |
Glo1 |
C |
T |
17: 30,816,814 (GRCm39) |
S114N |
probably benign |
Het |
Grik1 |
T |
C |
16: 87,848,279 (GRCm39) |
D163G |
probably damaging |
Het |
Grxcr1 |
T |
C |
5: 68,267,835 (GRCm39) |
C195R |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,265,451 (GRCm39) |
N806S |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,897,605 (GRCm39) |
N987S |
probably benign |
Het |
Klhl29 |
G |
T |
12: 5,260,124 (GRCm39) |
S31R |
possibly damaging |
Het |
Lama4 |
C |
T |
10: 38,970,907 (GRCm39) |
R1491C |
probably damaging |
Het |
Lmtk3 |
T |
C |
7: 45,443,051 (GRCm39) |
L578P |
probably damaging |
Het |
Lrrk2 |
A |
C |
15: 91,607,421 (GRCm39) |
M595L |
possibly damaging |
Het |
Mmp27 |
A |
T |
9: 7,571,955 (GRCm39) |
N52Y |
possibly damaging |
Het |
Mrc1 |
C |
T |
2: 14,276,088 (GRCm39) |
A474V |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,694,908 (GRCm39) |
H134R |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,411,236 (GRCm39) |
M1394T |
unknown |
Het |
Myof |
G |
A |
19: 37,931,962 (GRCm39) |
T968I |
probably benign |
Het |
Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
Ncoa5 |
C |
T |
2: 164,844,055 (GRCm39) |
G116D |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,777,562 (GRCm39) |
L494P |
probably damaging |
Het |
Nfatc3 |
T |
A |
8: 106,810,601 (GRCm39) |
V459E |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,633,030 (GRCm39) |
Y1034N |
probably damaging |
Het |
Nup153 |
A |
T |
13: 46,842,682 (GRCm39) |
S829T |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,732 (GRCm39) |
S206G |
probably benign |
Het |
Or4f47 |
T |
C |
2: 111,972,548 (GRCm39) |
F86S |
probably damaging |
Het |
Or52a24 |
C |
T |
7: 103,381,357 (GRCm39) |
L75F |
probably damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,175 (GRCm39) |
L285P |
possibly damaging |
Het |
Pcdh18 |
C |
A |
3: 49,710,344 (GRCm39) |
V324F |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,723 (GRCm39) |
L701H |
probably damaging |
Het |
Plau |
T |
G |
14: 20,887,884 (GRCm39) |
Y43D |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,917,588 (GRCm39) |
N53I |
probably damaging |
Het |
Pon2 |
T |
A |
6: 5,266,183 (GRCm39) |
I279F |
probably benign |
Het |
Prep |
A |
T |
10: 44,973,591 (GRCm39) |
K233I |
possibly damaging |
Het |
Rap1b |
T |
C |
10: 117,658,713 (GRCm39) |
Y40C |
probably damaging |
Het |
Ric8a |
T |
C |
7: 140,438,789 (GRCm39) |
|
probably null |
Het |
Rnf19b |
T |
C |
4: 128,979,344 (GRCm39) |
|
probably benign |
Het |
Rpl9-ps6 |
A |
C |
19: 32,443,727 (GRCm39) |
S75R |
probably damaging |
Het |
Sh3bp2 |
A |
G |
5: 34,719,818 (GRCm39) |
Y609C |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,392,936 (GRCm39) |
N1232S |
unknown |
Het |
Slc28a1 |
T |
G |
7: 80,818,996 (GRCm39) |
V615G |
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Snx13 |
T |
G |
12: 35,190,185 (GRCm39) |
N845K |
probably damaging |
Het |
Srms |
T |
C |
2: 180,851,253 (GRCm39) |
Y171C |
probably damaging |
Het |
Supt6 |
A |
G |
11: 78,122,644 (GRCm39) |
L193P |
probably damaging |
Het |
Syt7 |
G |
A |
19: 10,421,408 (GRCm39) |
V531M |
probably damaging |
Het |
Tmem255b |
T |
C |
8: 13,507,096 (GRCm39) |
|
probably null |
Het |
Tnik |
A |
T |
3: 28,650,235 (GRCm39) |
K449N |
possibly damaging |
Het |
Trim29 |
A |
T |
9: 43,230,681 (GRCm39) |
D288V |
probably benign |
Het |
Ttc13 |
T |
A |
8: 125,408,900 (GRCm39) |
|
probably null |
Het |
Uchl3 |
A |
T |
14: 101,928,033 (GRCm39) |
D167V |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,311,895 (GRCm39) |
V379A |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,910,757 (GRCm39) |
D3507G |
probably damaging |
Het |
Wfdc2 |
A |
T |
2: 164,405,362 (GRCm39) |
K88* |
probably null |
Het |
Ylpm1 |
C |
A |
12: 85,077,620 (GRCm39) |
H1448Q |
probably damaging |
Het |
|
Other mutations in Zc3h14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Zc3h14
|
APN |
12 |
98,713,783 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00946:Zc3h14
|
APN |
12 |
98,726,142 (GRCm39) |
splice site |
probably benign |
|
IGL00969:Zc3h14
|
APN |
12 |
98,725,102 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01626:Zc3h14
|
APN |
12 |
98,745,445 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01891:Zc3h14
|
APN |
12 |
98,725,206 (GRCm39) |
unclassified |
probably benign |
|
IGL02119:Zc3h14
|
APN |
12 |
98,730,154 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02484:Zc3h14
|
APN |
12 |
98,740,560 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02744:Zc3h14
|
APN |
12 |
98,751,234 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02894:Zc3h14
|
APN |
12 |
98,725,202 (GRCm39) |
critical splice donor site |
probably null |
|
R0408:Zc3h14
|
UTSW |
12 |
98,730,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0739:Zc3h14
|
UTSW |
12 |
98,723,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R0865:Zc3h14
|
UTSW |
12 |
98,745,528 (GRCm39) |
critical splice donor site |
probably null |
|
R0926:Zc3h14
|
UTSW |
12 |
98,724,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1530:Zc3h14
|
UTSW |
12 |
98,751,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R1735:Zc3h14
|
UTSW |
12 |
98,724,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1743:Zc3h14
|
UTSW |
12 |
98,745,448 (GRCm39) |
missense |
probably benign |
0.04 |
R1848:Zc3h14
|
UTSW |
12 |
98,719,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1851:Zc3h14
|
UTSW |
12 |
98,726,613 (GRCm39) |
nonsense |
probably null |
|
R1978:Zc3h14
|
UTSW |
12 |
98,730,181 (GRCm39) |
missense |
probably damaging |
0.97 |
R2011:Zc3h14
|
UTSW |
12 |
98,746,527 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2198:Zc3h14
|
UTSW |
12 |
98,719,069 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2198:Zc3h14
|
UTSW |
12 |
98,719,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R2263:Zc3h14
|
UTSW |
12 |
98,724,773 (GRCm39) |
missense |
probably benign |
0.32 |
R3762:Zc3h14
|
UTSW |
12 |
98,724,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R4210:Zc3h14
|
UTSW |
12 |
98,751,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Zc3h14
|
UTSW |
12 |
98,730,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4360:Zc3h14
|
UTSW |
12 |
98,746,456 (GRCm39) |
missense |
probably benign |
0.09 |
R4814:Zc3h14
|
UTSW |
12 |
98,719,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4815:Zc3h14
|
UTSW |
12 |
98,719,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Zc3h14
|
UTSW |
12 |
98,719,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Zc3h14
|
UTSW |
12 |
98,726,083 (GRCm39) |
missense |
probably benign |
|
R5077:Zc3h14
|
UTSW |
12 |
98,723,465 (GRCm39) |
critical splice donor site |
probably null |
|
R5431:Zc3h14
|
UTSW |
12 |
98,746,324 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5783:Zc3h14
|
UTSW |
12 |
98,723,434 (GRCm39) |
missense |
probably damaging |
0.99 |
R5850:Zc3h14
|
UTSW |
12 |
98,745,414 (GRCm39) |
missense |
probably damaging |
0.97 |
R6034:Zc3h14
|
UTSW |
12 |
98,737,632 (GRCm39) |
missense |
probably benign |
0.01 |
R6034:Zc3h14
|
UTSW |
12 |
98,737,632 (GRCm39) |
missense |
probably benign |
0.01 |
R6291:Zc3h14
|
UTSW |
12 |
98,726,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R6338:Zc3h14
|
UTSW |
12 |
98,724,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6595:Zc3h14
|
UTSW |
12 |
98,723,285 (GRCm39) |
missense |
probably damaging |
0.98 |
R6932:Zc3h14
|
UTSW |
12 |
98,737,336 (GRCm39) |
intron |
probably benign |
|
R7074:Zc3h14
|
UTSW |
12 |
98,724,859 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7204:Zc3h14
|
UTSW |
12 |
98,737,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R7237:Zc3h14
|
UTSW |
12 |
98,746,408 (GRCm39) |
missense |
probably benign |
0.34 |
R7267:Zc3h14
|
UTSW |
12 |
98,751,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R8753:Zc3h14
|
UTSW |
12 |
98,724,831 (GRCm39) |
missense |
probably benign |
0.12 |
R9169:Zc3h14
|
UTSW |
12 |
98,745,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Zc3h14
|
UTSW |
12 |
98,737,663 (GRCm39) |
missense |
possibly damaging |
0.92 |
RF020:Zc3h14
|
UTSW |
12 |
98,746,541 (GRCm39) |
critical splice donor site |
probably null |
|
RF024:Zc3h14
|
UTSW |
12 |
98,725,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGGTGTTTGTGAAGTCCCTC -3'
(R):5'- GACAATCAGAGTGAACAATGCTC -3'
Sequencing Primer
(F):5'- GGTGTTTGTGAAGTCCCTCTAAAAAG -3'
(R):5'- GGCAACAACATCTTTTAATGCAG -3'
|
Posted On |
2018-08-01 |