Incidental Mutation 'R1735:Zc3h14'
| ID |
199661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h14
|
| Ensembl Gene |
ENSMUSG00000021012 |
| Gene Name |
zinc finger CCCH type containing 14 |
| Synonyms |
1700016A15Rik, 1010001P15Rik, 2700069A02Rik |
| MMRRC Submission |
039767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1735 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98746964-98787753 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98758580 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 167
(P167L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057000]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000221532]
[ENSMUST00000223083]
|
| AlphaFold |
Q8BJ05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057000
AA Change: P167L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: P167L
| 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 damaging
Transcript: ENSMUST00000110104
AA Change: P167L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: P167L
| 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: P167L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: P167L
| 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 |
noncoding transcript
Transcript: ENSMUST00000222461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223451
|
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 97.0%
- 10x: 95.3%
- 20x: 92.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230110C19Rik |
A |
C |
9: 8,027,265 (GRCm38) |
S91A |
probably benign |
Het |
| Acot5 |
A |
T |
12: 84,075,487 (GRCm38) |
I282F |
probably benign |
Het |
| Adam19 |
C |
A |
11: 46,138,917 (GRCm38) |
Q730K |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,487,947 (GRCm38) |
V3481A |
possibly damaging |
Het |
| Akr1c20 |
T |
C |
13: 4,487,208 (GRCm38) |
D316G |
probably benign |
Het |
| Ap3b1 |
G |
A |
13: 94,493,717 (GRCm38) |
V827I |
unknown |
Het |
| Aph1a |
T |
A |
3: 95,895,509 (GRCm38) |
D140E |
probably damaging |
Het |
| Arhgef19 |
G |
T |
4: 141,249,618 (GRCm38) |
V502L |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,006,626 (GRCm38) |
F67S |
probably damaging |
Het |
| B430305J03Rik |
G |
A |
3: 61,363,940 (GRCm38) |
|
probably benign |
Het |
| B4galnt2 |
A |
G |
11: 95,890,983 (GRCm38) |
F119L |
probably damaging |
Het |
| Bcap29 |
T |
A |
12: 31,630,840 (GRCm38) |
N49I |
probably damaging |
Het |
| C77080 |
G |
T |
4: 129,223,577 (GRCm38) |
S476R |
probably damaging |
Het |
| Capn11 |
T |
A |
17: 45,632,401 (GRCm38) |
K616* |
probably null |
Het |
| Cdh12 |
T |
A |
15: 21,520,366 (GRCm38) |
Y306N |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,953,214 (GRCm38) |
N315Y |
probably damaging |
Het |
| Cited2 |
C |
A |
10: 17,724,046 (GRCm38) |
P34Q |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,089,789 (GRCm38) |
D2930E |
probably benign |
Het |
| Cog3 |
T |
A |
14: 75,729,321 (GRCm38) |
K470* |
probably null |
Het |
| Commd10 |
A |
G |
18: 46,990,485 (GRCm38) |
T136A |
probably benign |
Het |
| Csf2ra |
C |
A |
19: 61,226,344 (GRCm38) |
D181Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,932,610 (GRCm38) |
I2686F |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 112,945,086 (GRCm38) |
S415P |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,860,915 (GRCm38) |
F630Y |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,578,940 (GRCm38) |
I96N |
possibly damaging |
Het |
| Ephx2 |
T |
A |
14: 66,088,303 (GRCm38) |
I358L |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,587,211 (GRCm38) |
I120T |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,885,780 (GRCm38) |
Y137H |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,441,803 (GRCm38) |
E403G |
probably damaging |
Het |
| Fcrlb |
C |
A |
1: 170,907,332 (GRCm38) |
V409F |
probably benign |
Het |
| Flot2 |
G |
T |
11: 78,058,005 (GRCm38) |
A269S |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,355,551 (GRCm38) |
N419K |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,377,765 (GRCm38) |
M61K |
probably null |
Het |
| Htr2a |
T |
C |
14: 74,706,128 (GRCm38) |
F383L |
probably damaging |
Het |
| Kctd6 |
C |
T |
14: 8,222,253 (GRCm38) |
R32C |
probably damaging |
Het |
| Khdc1a |
A |
G |
1: 21,350,965 (GRCm38) |
T125A |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,779,938 (GRCm38) |
S390P |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,614,956 (GRCm38) |
T808I |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,404,889 (GRCm38) |
D1342A |
probably damaging |
Het |
| Lrat |
T |
C |
3: 82,897,110 (GRCm38) |
I187V |
probably benign |
Het |
| Lrif1 |
T |
C |
3: 106,735,846 (GRCm38) |
*238Q |
probably null |
Het |
| Lrp2bp |
T |
C |
8: 46,011,988 (GRCm38) |
F48S |
probably benign |
Het |
| Mafg |
A |
G |
11: 120,629,678 (GRCm38) |
M32T |
possibly damaging |
Het |
| Map4 |
C |
T |
9: 110,034,955 (GRCm38) |
T416I |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,808,316 (GRCm38) |
F1236S |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,083,834 (GRCm38) |
D414G |
probably damaging |
Het |
| Nrip2 |
T |
G |
6: 128,405,074 (GRCm38) |
V50G |
probably damaging |
Het |
| Olfr1449 |
T |
A |
19: 12,934,843 (GRCm38) |
I35N |
probably damaging |
Het |
| Olfr16 |
A |
G |
1: 172,956,807 (GRCm38) |
N4S |
probably benign |
Het |
| Olfr432 |
A |
T |
1: 174,050,799 (GRCm38) |
K142I |
probably benign |
Het |
| Olfr608 |
T |
A |
7: 103,470,146 (GRCm38) |
F36I |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,490,769 (GRCm38) |
H384L |
probably benign |
Het |
| Pik3r1 |
A |
T |
13: 101,686,374 (GRCm38) |
Y607N |
probably damaging |
Het |
| Plagl2 |
G |
A |
2: 153,232,477 (GRCm38) |
T168I |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,742,396 (GRCm38) |
S912P |
probably damaging |
Het |
| Ppp1r16b |
A |
G |
2: 158,761,495 (GRCm38) |
K447E |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,342,039 (GRCm38) |
E907G |
possibly damaging |
Het |
| Rabep2 |
A |
G |
7: 126,444,540 (GRCm38) |
R470G |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,174,160 (GRCm38) |
Y518C |
probably damaging |
Het |
| Rbmxl1 |
A |
G |
8: 78,506,082 (GRCm38) |
Y211H |
probably damaging |
Het |
| Rdh7 |
T |
C |
10: 127,884,585 (GRCm38) |
Y306C |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,457,911 (GRCm38) |
I220V |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 101,015,861 (GRCm38) |
N1045D |
possibly damaging |
Het |
| Scube1 |
T |
C |
15: 83,607,437 (GRCm38) |
H952R |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,000,652 (GRCm38) |
I690T |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,347,936 (GRCm38) |
K240R |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,563,459 (GRCm38) |
I1108T |
unknown |
Het |
| Snip1 |
A |
G |
4: 125,071,201 (GRCm38) |
D133G |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 118,014,774 (GRCm38) |
Y77C |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,715,481 (GRCm38) |
V112A |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,717,970 (GRCm38) |
P3718S |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 88,073,094 (GRCm38) |
|
probably null |
Het |
| Ubr3 |
A |
T |
2: 70,009,129 (GRCm38) |
E1529V |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,710,138 (GRCm38) |
H965L |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 147,061,423 (GRCm38) |
L781Q |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,990,682 (GRCm38) |
I401T |
probably benign |
Het |
| Zfp609 |
G |
T |
9: 65,703,092 (GRCm38) |
S863* |
probably null |
Het |
|
| Other mutations in Zc3h14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Zc3h14
|
APN |
12 |
98,747,524 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00946:Zc3h14
|
APN |
12 |
98,759,883 (GRCm38) |
splice site |
probably benign |
|
|
IGL00969:Zc3h14
|
APN |
12 |
98,758,843 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01626:Zc3h14
|
APN |
12 |
98,779,186 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL01891:Zc3h14
|
APN |
12 |
98,758,947 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02119:Zc3h14
|
APN |
12 |
98,763,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02484:Zc3h14
|
APN |
12 |
98,774,301 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL02744:Zc3h14
|
APN |
12 |
98,784,975 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL02894:Zc3h14
|
APN |
12 |
98,758,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0408:Zc3h14
|
UTSW |
12 |
98,763,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0739:Zc3h14
|
UTSW |
12 |
98,757,201 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0865:Zc3h14
|
UTSW |
12 |
98,779,269 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0926:Zc3h14
|
UTSW |
12 |
98,758,590 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1530:Zc3h14
|
UTSW |
12 |
98,785,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1743:Zc3h14
|
UTSW |
12 |
98,779,189 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1848:Zc3h14
|
UTSW |
12 |
98,752,832 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1851:Zc3h14
|
UTSW |
12 |
98,760,354 (GRCm38) |
nonsense |
probably null |
|
|
R1978:Zc3h14
|
UTSW |
12 |
98,763,922 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2011:Zc3h14
|
UTSW |
12 |
98,780,268 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2198:Zc3h14
|
UTSW |
12 |
98,752,810 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2198:Zc3h14
|
UTSW |
12 |
98,752,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2263:Zc3h14
|
UTSW |
12 |
98,758,514 (GRCm38) |
missense |
probably benign |
0.32 |
|
R3762:Zc3h14
|
UTSW |
12 |
98,758,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4210:Zc3h14
|
UTSW |
12 |
98,785,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4353:Zc3h14
|
UTSW |
12 |
98,763,960 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4360:Zc3h14
|
UTSW |
12 |
98,780,197 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4814:Zc3h14
|
UTSW |
12 |
98,752,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4815:Zc3h14
|
UTSW |
12 |
98,752,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4817:Zc3h14
|
UTSW |
12 |
98,752,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4947:Zc3h14
|
UTSW |
12 |
98,759,824 (GRCm38) |
missense |
probably benign |
|
|
R5077:Zc3h14
|
UTSW |
12 |
98,757,206 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5431:Zc3h14
|
UTSW |
12 |
98,780,065 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5783:Zc3h14
|
UTSW |
12 |
98,757,175 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5850:Zc3h14
|
UTSW |
12 |
98,779,155 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6034:Zc3h14
|
UTSW |
12 |
98,771,373 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6034:Zc3h14
|
UTSW |
12 |
98,771,373 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6291:Zc3h14
|
UTSW |
12 |
98,759,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6338:Zc3h14
|
UTSW |
12 |
98,758,590 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6595:Zc3h14
|
UTSW |
12 |
98,757,026 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6737:Zc3h14
|
UTSW |
12 |
98,785,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6932:Zc3h14
|
UTSW |
12 |
98,771,077 (GRCm38) |
intron |
probably benign |
|
|
R7074:Zc3h14
|
UTSW |
12 |
98,758,600 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7204:Zc3h14
|
UTSW |
12 |
98,771,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7237:Zc3h14
|
UTSW |
12 |
98,780,149 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7267:Zc3h14
|
UTSW |
12 |
98,785,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8753:Zc3h14
|
UTSW |
12 |
98,758,572 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9169:Zc3h14
|
UTSW |
12 |
98,779,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9610:Zc3h14
|
UTSW |
12 |
98,771,404 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
RF020:Zc3h14
|
UTSW |
12 |
98,780,282 (GRCm38) |
critical splice donor site |
probably null |
|
|
RF024:Zc3h14
|
UTSW |
12 |
98,758,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCGTGGTAGTATAAGCCTTTAACC -3'
(R):5'- AGTACCAGTGTCTGCATTTCTACTTGC -3'
Sequencing Primer
(F):5'- acaaacaaacaaacaaacaaacaaac -3'
(R):5'- GCAGGTGGTCGATAAATTTCAATAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation