Incidental Mutation 'R2198:Zc3h14'
| ID |
238519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h14
|
| Ensembl Gene |
ENSMUSG00000021012 |
| Gene Name |
zinc finger CCCH type containing 14 |
| Synonyms |
1700016A15Rik, 1010001P15Rik, 2700069A02Rik |
| MMRRC Submission |
040200-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98746964-98787753 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98752809 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 144
(M144I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057000]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000223083]
|
| AlphaFold |
Q8BJ05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057000
AA Change: M37I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: M37I
| 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 |
possibly damaging
Transcript: ENSMUST00000110104
AA Change: M37I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: M37I
| 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 |
possibly damaging
Transcript: ENSMUST00000110105
AA Change: M37I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: M37I
| 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: ENSMUST00000221558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223083
AA Change: M144I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6169 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (60/61) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932431P20Rik |
G |
T |
7: 29,527,272 (GRCm38) |
|
noncoding transcript |
Het |
| Adra1a |
T |
C |
14: 66,637,936 (GRCm38) |
I120T |
probably damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,577,465 (GRCm38) |
P186L |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,350,184 (GRCm38) |
K251R |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,934,577 (GRCm38) |
E789G |
possibly damaging |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,545,769 (GRCm38) |
|
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,347,259 (GRCm38) |
|
probably benign |
Het |
| Carf |
G |
A |
1: 60,141,484 (GRCm38) |
R355H |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,947,322 (GRCm38) |
|
probably null |
Het |
| Celf6 |
G |
T |
9: 59,603,339 (GRCm38) |
L169F |
possibly damaging |
Het |
| Cep295nl |
A |
T |
11: 118,332,593 (GRCm38) |
I475N |
probably benign |
Het |
| Chdh |
T |
A |
14: 30,031,532 (GRCm38) |
S133T |
possibly damaging |
Het |
| Cnot6l |
C |
T |
5: 96,079,941 (GRCm38) |
D478N |
possibly damaging |
Het |
| Ctnna3 |
C |
A |
10: 65,002,745 (GRCm38) |
T867K |
probably benign |
Het |
| Ctse |
T |
G |
1: 131,672,447 (GRCm38) |
Y311* |
probably null |
Het |
| Ddx60 |
T |
A |
8: 61,958,063 (GRCm38) |
M453K |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,859,499 (GRCm38) |
F3927L |
possibly damaging |
Het |
| Dsg4 |
T |
C |
18: 20,461,442 (GRCm38) |
S543P |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,175,701 (GRCm38) |
T237S |
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,850,935 (GRCm38) |
H357P |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,844,144 (GRCm38) |
I38V |
possibly damaging |
Het |
| Erap1 |
C |
T |
13: 74,646,687 (GRCm38) |
T155I |
probably damaging |
Het |
| Erh |
T |
C |
12: 80,642,785 (GRCm38) |
|
probably benign |
Het |
| F5 |
A |
T |
1: 164,207,034 (GRCm38) |
K1834M |
probably damaging |
Het |
| Fyn |
A |
G |
10: 39,529,545 (GRCm38) |
E269G |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 41,040,805 (GRCm38) |
T42A |
probably benign |
Het |
| Gm8979 |
T |
A |
7: 106,083,551 (GRCm38) |
M166L |
probably benign |
Het |
| Grm1 |
T |
G |
10: 10,782,776 (GRCm38) |
R323S |
probably damaging |
Het |
| Gstt4 |
T |
C |
10: 75,822,401 (GRCm38) |
D8G |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,732,402 (GRCm38) |
D94G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,265,741 (GRCm38) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,152,592 (GRCm38) |
F1210Y |
probably damaging |
Het |
| Nifk |
A |
G |
1: 118,329,400 (GRCm38) |
R88G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,433,761 (GRCm38) |
M803I |
probably damaging |
Het |
| Olfr1388 |
C |
T |
11: 49,443,959 (GRCm38) |
S36F |
probably benign |
Het |
| Olfr1537 |
G |
A |
9: 39,237,752 (GRCm38) |
T224I |
possibly damaging |
Het |
| Olfr458 |
A |
G |
6: 42,461,016 (GRCm38) |
M1T |
probably null |
Het |
| Olfr794 |
T |
A |
10: 129,571,046 (GRCm38) |
Y130* |
probably null |
Het |
| Pip4k2a |
A |
T |
2: 18,847,655 (GRCm38) |
M272K |
probably damaging |
Het |
| Ppp1cb |
G |
T |
5: 32,483,360 (GRCm38) |
C139F |
probably damaging |
Het |
| Rad23b |
G |
A |
4: 55,385,497 (GRCm38) |
G345R |
possibly damaging |
Het |
| Shc4 |
A |
T |
2: 125,639,346 (GRCm38) |
V548E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,763,263 (GRCm38) |
|
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,408,256 (GRCm38) |
K783* |
probably null |
Het |
| Sobp |
A |
C |
10: 43,022,524 (GRCm38) |
I355S |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,763,271 (GRCm38) |
Y491H |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,590,313 (GRCm38) |
V727A |
probably damaging |
Het |
| Tmprss9 |
C |
T |
10: 80,887,459 (GRCm38) |
P251L |
probably damaging |
Het |
| Tnks |
A |
T |
8: 34,848,649 (GRCm38) |
D994E |
probably benign |
Het |
| Tnks |
C |
T |
8: 34,873,067 (GRCm38) |
D466N |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,636,672 (GRCm38) |
F394L |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,910,746 (GRCm38) |
Y144F |
probably benign |
Het |
| Usp22 |
A |
G |
11: 61,159,337 (GRCm38) |
F324S |
probably damaging |
Het |
| Vmn1r78 |
G |
T |
7: 12,152,560 (GRCm38) |
V33F |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,446,081 (GRCm38) |
R1494Q |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 30,057,511 (GRCm38) |
T49A |
probably benign |
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 |
|
R1735:Zc3h14
|
UTSW |
12 |
98,758,580 (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 |
|
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'- GAGCGTTCTTGTCTAGCCTC -3'
(R):5'- ACACAGGTGATTTTCAAGTCCC -3'
Sequencing Primer
(F):5'- TCTAGCCTCTGTTAGAAGGAGG -3'
(R):5'- TCCAGAGGCTATGCTTTACAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation