Incidental Mutation 'R0865:Zc3h14'
ID |
82318 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h14
|
Ensembl Gene |
ENSMUSG00000021012 |
Gene Name |
zinc finger CCCH type containing 14 |
Synonyms |
2700069A02Rik, 1010001P15Rik, 1700016A15Rik |
MMRRC Submission |
039039-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0865 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
98713223-98754012 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 98745528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021399]
[ENSMUST00000057000]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000221532]
|
AlphaFold |
Q8BJ05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021399
|
SMART Domains |
Protein: ENSMUSP00000021399 Gene: ENSMUSG00000021012
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 |
probably benign
Transcript: ENSMUST00000057000
|
SMART Domains |
Protein: ENSMUSP00000055879 Gene: ENSMUSG00000021012
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: ENSMUST00000110104
|
SMART Domains |
Protein: ENSMUSP00000105731 Gene: ENSMUSG00000021012
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 null
Transcript: ENSMUST00000110105
|
SMART Domains |
Protein: ENSMUSP00000105732 Gene: ENSMUSG00000021012
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 |
probably benign
Transcript: ENSMUST00000221532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221576
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222146
|
Meta Mutation Damage Score |
0.9494 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
98% (53/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,479,843 (GRCm39) |
E581G |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,094,841 (GRCm39) |
N666S |
probably damaging |
Het |
Apcs |
T |
C |
1: 172,721,782 (GRCm39) |
D188G |
probably benign |
Het |
Arih2 |
A |
G |
9: 108,526,499 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
G |
4: 126,742,677 (GRCm39) |
K981E |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,869,784 (GRCm39) |
I81K |
probably damaging |
Het |
Cacng8 |
T |
A |
7: 3,460,625 (GRCm39) |
I136N |
possibly damaging |
Het |
Cdh22 |
A |
T |
2: 165,022,976 (GRCm39) |
W32R |
probably damaging |
Het |
Cel |
A |
G |
2: 28,450,627 (GRCm39) |
S133P |
probably damaging |
Het |
Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
Clock |
A |
T |
5: 76,414,271 (GRCm39) |
|
probably benign |
Het |
Cox6a2 |
A |
G |
7: 127,804,995 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
C |
A |
7: 26,461,654 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,154,579 (GRCm39) |
Q234* |
probably null |
Het |
Gga3 |
A |
T |
11: 115,483,285 (GRCm39) |
N91K |
probably damaging |
Het |
Idh1 |
T |
C |
1: 65,200,315 (GRCm39) |
T350A |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,971,564 (GRCm39) |
|
probably null |
Het |
Itgb1 |
A |
G |
8: 129,436,732 (GRCm39) |
|
probably null |
Het |
Kank4 |
A |
T |
4: 98,662,900 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,315,194 (GRCm39) |
D281E |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,730,067 (GRCm39) |
|
probably benign |
Het |
Kpna4 |
T |
C |
3: 69,008,750 (GRCm39) |
E145G |
probably damaging |
Het |
Lacc1 |
A |
G |
14: 77,271,584 (GRCm39) |
I201T |
possibly damaging |
Het |
Larp7 |
T |
C |
3: 127,337,884 (GRCm39) |
K392E |
probably damaging |
Het |
Lbh |
T |
A |
17: 73,228,224 (GRCm39) |
M23K |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,382,514 (GRCm39) |
E361V |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,116,046 (GRCm39) |
S470P |
probably benign |
Het |
Ngef |
T |
A |
1: 87,412,323 (GRCm39) |
M449L |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,591,512 (GRCm39) |
T259A |
probably benign |
Het |
Or2w3 |
T |
C |
11: 58,556,478 (GRCm39) |
I31T |
possibly damaging |
Het |
Or7e178 |
T |
A |
9: 20,226,045 (GRCm39) |
Y57F |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,165,116 (GRCm39) |
D937E |
probably benign |
Het |
Pnpla7 |
A |
G |
2: 24,872,135 (GRCm39) |
K72E |
probably benign |
Het |
Ptprn |
T |
G |
1: 75,224,782 (GRCm39) |
|
probably null |
Het |
Scgn |
C |
T |
13: 24,146,102 (GRCm39) |
|
probably null |
Het |
Sdk2 |
T |
C |
11: 113,741,748 (GRCm39) |
I824V |
probably benign |
Het |
Slc38a3 |
A |
G |
9: 107,532,847 (GRCm39) |
S326P |
probably damaging |
Het |
Spen |
A |
G |
4: 141,199,181 (GRCm39) |
S3126P |
probably benign |
Het |
Tbcd |
T |
C |
11: 121,493,815 (GRCm39) |
C902R |
possibly damaging |
Het |
Tmem63b |
T |
C |
17: 45,972,445 (GRCm39) |
I721V |
probably benign |
Het |
Trim30c |
A |
G |
7: 104,039,658 (GRCm39) |
S46P |
probably damaging |
Het |
Trim59 |
T |
C |
3: 68,944,941 (GRCm39) |
D133G |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,641,159 (GRCm39) |
|
probably null |
Het |
Ttll10 |
A |
G |
4: 156,128,135 (GRCm39) |
L391P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,623,585 (GRCm39) |
T15331A |
possibly damaging |
Het |
Vmn1r237 |
C |
T |
17: 21,534,976 (GRCm39) |
T233I |
probably damaging |
Het |
Vmn2r115 |
A |
T |
17: 23,565,382 (GRCm39) |
D423V |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,268,516 (GRCm39) |
I240F |
probably benign |
Het |
Wdr3 |
A |
G |
3: 100,060,112 (GRCm39) |
|
probably benign |
Het |
Zc3hav1 |
C |
T |
6: 38,330,837 (GRCm39) |
|
probably benign |
Het |
Zfp335 |
A |
T |
2: 164,741,415 (GRCm39) |
|
probably null |
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 |
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 |
R6737:Zc3h14
|
UTSW |
12 |
98,751,305 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AAACCCTTCTCTGCCTTAGGCAAAG -3'
(R):5'- GGAACCACGCAAGCCTTAGTCC -3'
Sequencing Primer
(F):5'- GGCCAATTTTTTTGGCTCAGATTAC -3'
(R):5'- ACCTTGCAGAAGGATTTCCTG -3'
|
Posted On |
2013-11-08 |