Incidental Mutation 'R0408:Zc3h14'
| ID |
40121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h14
|
| Ensembl Gene |
ENSMUSG00000021012 |
| Gene Name |
zinc finger CCCH type containing 14 |
| Synonyms |
2700069A02Rik, 1010001P15Rik, 1700016A15Rik |
| MMRRC Submission |
038610-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0408 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98713223-98754012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 98730082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 13
(V13G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057000]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000221532]
|
| AlphaFold |
Q8BJ05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057000
AA Change: V375G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: V375G
| 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: V375G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: V375G
| 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: V375G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: V375G
| 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 damaging
Transcript: ENSMUST00000221532
AA Change: V13G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223451
AA Change: V46G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222913
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,903,446 (GRCm39) |
N1032K |
probably damaging |
Het |
| Abcc8 |
A |
G |
7: 45,756,457 (GRCm39) |
I1416T |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,797,319 (GRCm39) |
|
probably null |
Het |
| Akap13 |
C |
T |
7: 75,396,544 (GRCm39) |
L2514F |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,055,798 (GRCm39) |
V331A |
probably damaging |
Het |
| Arid3a |
T |
A |
10: 79,786,667 (GRCm39) |
D473E |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,161,939 (GRCm39) |
S536P |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,317 (GRCm38) |
S668C |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,302,033 (GRCm39) |
I243F |
probably damaging |
Het |
| Bend6 |
G |
A |
1: 33,901,834 (GRCm39) |
P183S |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,299 (GRCm39) |
S43T |
probably benign |
Het |
| Camk4 |
G |
A |
18: 33,262,845 (GRCm39) |
D136N |
probably damaging |
Het |
| Ceacam3 |
G |
T |
7: 16,885,808 (GRCm39) |
|
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,969 (GRCm39) |
I356V |
probably benign |
Het |
| Clec9a |
T |
A |
6: 129,396,532 (GRCm39) |
I133N |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,634,823 (GRCm39) |
L157P |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,229,614 (GRCm39) |
|
probably null |
Het |
| Def8 |
T |
C |
8: 124,186,656 (GRCm39) |
V436A |
probably damaging |
Het |
| Dipk1c |
T |
A |
18: 84,738,488 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
C |
1: 80,518,193 (GRCm39) |
K1293R |
probably benign |
Het |
| Dync1h1 |
T |
G |
12: 110,598,126 (GRCm39) |
D1772E |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,561,387 (GRCm39) |
G72C |
probably damaging |
Het |
| Fam136a |
T |
G |
6: 86,343,707 (GRCm39) |
V68G |
possibly damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,363 (GRCm39) |
E195G |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,319 (GRCm39) |
Q165L |
possibly damaging |
Het |
| Glb1l |
T |
C |
1: 75,185,479 (GRCm39) |
Y77C |
probably damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,249 (GRCm39) |
V198A |
possibly damaging |
Het |
| Gpr26 |
C |
A |
7: 131,576,001 (GRCm39) |
|
probably null |
Het |
| Gsdma3 |
A |
C |
11: 98,526,164 (GRCm39) |
E296A |
probably benign |
Het |
| Hyou1 |
G |
T |
9: 44,295,989 (GRCm39) |
G385W |
probably damaging |
Het |
| Il17rb |
T |
C |
14: 29,718,637 (GRCm39) |
S482G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,898,428 (GRCm39) |
R1715W |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,263,717 (GRCm39) |
S411G |
probably benign |
Het |
| Kdm3a |
C |
T |
6: 71,588,663 (GRCm39) |
D449N |
probably benign |
Het |
| Kifbp |
T |
C |
10: 62,401,832 (GRCm39) |
I23M |
probably benign |
Het |
| Klhl26 |
T |
C |
8: 70,905,130 (GRCm39) |
D226G |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,354,737 (GRCm39) |
I94F |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,589,894 (GRCm39) |
D808G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,567,603 (GRCm39) |
M272I |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,496 (GRCm39) |
D251G |
probably benign |
Het |
| Mob3b |
T |
C |
4: 35,083,991 (GRCm39) |
D66G |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,705,988 (GRCm39) |
Q1863R |
probably damaging |
Het |
| Naa12 |
T |
C |
18: 80,255,029 (GRCm39) |
S108P |
probably damaging |
Het |
| Or10al3 |
G |
A |
17: 38,012,190 (GRCm39) |
V210I |
probably benign |
Het |
| Or4c103 |
A |
T |
2: 88,513,999 (GRCm39) |
F26I |
probably benign |
Het |
| Pdgfd |
T |
A |
9: 6,293,928 (GRCm39) |
Y167* |
probably null |
Het |
| Pfas |
A |
G |
11: 68,891,931 (GRCm39) |
|
probably null |
Het |
| Plin1 |
T |
A |
7: 79,372,394 (GRCm39) |
T393S |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,636,986 (GRCm39) |
N110K |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,099,674 (GRCm39) |
V1726D |
probably benign |
Het |
| Sestd1 |
T |
A |
2: 77,022,137 (GRCm39) |
D518V |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,423,310 (GRCm39) |
P344S |
probably damaging |
Het |
| Slc22a1 |
A |
T |
17: 12,875,828 (GRCm39) |
I462N |
probably damaging |
Het |
| Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
| Tbc1d14 |
G |
T |
5: 36,728,643 (GRCm39) |
T241K |
possibly damaging |
Het |
| Uaca |
T |
C |
9: 60,779,141 (GRCm39) |
L1176P |
possibly damaging |
Het |
| Ube2g1 |
G |
C |
11: 72,563,791 (GRCm39) |
G52A |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,259,934 (GRCm39) |
*957R |
probably null |
Het |
| Vmn2r125 |
A |
T |
4: 156,703,153 (GRCm39) |
E177V |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,723 (GRCm39) |
F631S |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,529,626 (GRCm39) |
C42* |
probably null |
Het |
| Zfat |
A |
T |
15: 68,052,141 (GRCm39) |
V551D |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,004,809 (GRCm39) |
R70W |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTTACACACAACTAAGGCAAATG -3'
(R):5'- AGCCTAGAGAGCATCTCAGCATCC -3'
Sequencing Primer
(F):5'- cactccagaagagggcatc -3'
(R):5'- CCACATGGCAGCTTATAATTGTTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation