Incidental Mutation 'IGL02119:Zc3h14'
| ID |
280510 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3h14
|
| Ensembl Gene |
ENSMUSG00000021012 |
| Gene Name |
zinc finger CCCH type containing 14 |
| Synonyms |
2700069A02Rik, 1010001P15Rik, 1700016A15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
98713223-98754012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98730154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 399
(V399A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057000]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000221532]
|
| AlphaFold |
Q8BJ05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057000
AA Change: V399A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: V399A
| 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
AA Change: V399A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: V399A
| 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 benign
Transcript: ENSMUST00000110105
AA Change: V399A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: V399A
| 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 |
noncoding transcript
Transcript: ENSMUST00000220865
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221532
AA Change: V37A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223451
AA Change: V70A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222913
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,158,344 (GRCm39) |
|
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,175,459 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,598,911 (GRCm39) |
V495A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,338,724 (GRCm39) |
|
probably benign |
Het |
| Bora |
A |
G |
14: 99,290,974 (GRCm39) |
D94G |
probably damaging |
Het |
| Bpifb9b |
G |
T |
2: 154,155,544 (GRCm39) |
V348L |
possibly damaging |
Het |
| Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
| Cyp2d11 |
A |
C |
15: 82,274,265 (GRCm39) |
I372S |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,044,559 (GRCm39) |
V380D |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,037,088 (GRCm39) |
A3580V |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,548 (GRCm39) |
S1024P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,447,511 (GRCm39) |
E1105K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,268,908 (GRCm39) |
E415V |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,295,588 (GRCm39) |
F224Y |
probably damaging |
Het |
| Gm11146 |
A |
T |
16: 77,385,498 (GRCm39) |
|
probably null |
Het |
| Gsn |
G |
T |
2: 35,192,507 (GRCm39) |
R485L |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,666,320 (GRCm39) |
Y261C |
probably damaging |
Het |
| Maneal |
A |
T |
4: 124,752,960 (GRCm39) |
I229N |
probably benign |
Het |
| Med24 |
A |
T |
11: 98,619,661 (GRCm39) |
M27K |
probably benign |
Het |
| Nipsnap2 |
T |
A |
5: 129,825,056 (GRCm39) |
|
probably benign |
Het |
| Noa1 |
T |
A |
5: 77,455,426 (GRCm39) |
Q430L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,091,281 (GRCm39) |
S9R |
possibly damaging |
Het |
| Or5d47 |
T |
A |
2: 87,804,754 (GRCm39) |
N85I |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,908 (GRCm39) |
V208A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,527 (GRCm39) |
I92V |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,529 (GRCm39) |
S460R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,922 (GRCm39) |
Q826R |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
| Poldip2 |
T |
A |
11: 78,408,734 (GRCm39) |
F200I |
probably damaging |
Het |
| Prodh2 |
T |
C |
7: 30,205,929 (GRCm39) |
V208A |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,553,635 (GRCm39) |
D89G |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,544,015 (GRCm39) |
S90R |
probably damaging |
Het |
| Slc44a4 |
A |
C |
17: 35,147,637 (GRCm39) |
D441A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,059,014 (GRCm39) |
I174F |
probably damaging |
Het |
| Smim17 |
T |
C |
7: 6,430,160 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,760 (GRCm39) |
E872G |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,406,733 (GRCm38) |
L625S |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,593 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Whrn |
T |
G |
4: 63,353,724 (GRCm39) |
K348Q |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation