Incidental Mutation 'R4360:Zc3h14'
| ID |
324867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h14
|
| Ensembl Gene |
ENSMUSG00000021012 |
| Gene Name |
zinc finger CCCH type containing 14 |
| Synonyms |
2700069A02Rik, 1010001P15Rik, 1700016A15Rik |
| MMRRC Submission |
041111-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98713223-98754012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98746456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 555
(K555R)
|
| 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 benign
Transcript: ENSMUST00000110105
AA Change: K555R
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: K555R
| 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: ENSMUST00000220660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222146
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
| Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
| BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
| Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
| Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
| Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
| Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
| Or56a3 |
A |
C |
7: 104,735,460 (GRCm39) |
E179A |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
| Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,882 (GRCm39) |
V167A |
probably benign |
Het |
| Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
| Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
| Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,267 (GRCm39) |
E245G |
probably benign |
Het |
| Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,349,869 (GRCm39) |
S232G |
probably benign |
Het |
| Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
probably benign |
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 |
|
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 |
|
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'- ACTTTAGGAGGCTCAGCATTTTG -3'
(R):5'- TATAAGCGAGGCCTCAAACC -3'
Sequencing Primer
(F):5'- AGGAGGCTCAGCATTTTGTGTTC -3'
(R):5'- GCGAGGCCTCAAACCAATATTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation