Incidental Mutation 'R5431:Zc3h14'
| ID |
428063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h14
|
| Ensembl Gene |
ENSMUSG00000021012 |
| Gene Name |
zinc finger CCCH type containing 14 |
| Synonyms |
2700069A02Rik, 1010001P15Rik, 1700016A15Rik |
| MMRRC Submission |
042847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5431 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98713223-98754012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98746324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 511
(D511G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000110105
AA Change: D511G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: D511G
| 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 |
noncoding transcript
Transcript: ENSMUST00000222146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,504,426 (GRCm39) |
S124G |
possibly damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,128,045 (GRCm39) |
T27A |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,089,846 (GRCm39) |
N461K |
probably benign |
Het |
| B4galnt3 |
T |
A |
6: 120,195,928 (GRCm39) |
T300S |
probably damaging |
Het |
| BC035044 |
A |
G |
6: 128,861,970 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
C |
T |
9: 75,800,991 (GRCm39) |
P374S |
probably damaging |
Het |
| C330018D20Rik |
A |
T |
18: 57,090,928 (GRCm39) |
F78L |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,144,090 (GRCm39) |
S289T |
probably benign |
Het |
| Cerkl |
C |
T |
2: 79,171,679 (GRCm39) |
C393Y |
probably damaging |
Het |
| Cibar2 |
C |
A |
8: 120,894,042 (GRCm39) |
|
probably null |
Het |
| Ciita |
C |
T |
16: 10,341,656 (GRCm39) |
R1020C |
probably damaging |
Het |
| Dcaf13 |
C |
A |
15: 38,986,619 (GRCm39) |
D130E |
probably benign |
Het |
| Dnal4 |
C |
T |
15: 79,646,648 (GRCm39) |
G50R |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,957,323 (GRCm39) |
N109S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,824,420 (GRCm39) |
V2435A |
unknown |
Het |
| Fam178b |
T |
C |
1: 36,671,566 (GRCm39) |
E185G |
probably damaging |
Het |
| Fam227b |
C |
A |
2: 125,968,851 (GRCm39) |
L74F |
probably benign |
Het |
| Fgfr4 |
G |
A |
13: 55,304,464 (GRCm39) |
V138I |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,456,383 (GRCm39) |
I2161V |
possibly damaging |
Het |
| Frmd5 |
T |
C |
2: 121,393,390 (GRCm39) |
N235S |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Ggt6 |
A |
G |
11: 72,328,564 (GRCm39) |
T355A |
possibly damaging |
Het |
| Gm14393 |
G |
A |
2: 174,905,669 (GRCm39) |
T41I |
probably damaging |
Het |
| Gpr151 |
A |
C |
18: 42,711,932 (GRCm39) |
S249A |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,193,746 (GRCm39) |
V429D |
probably benign |
Het |
| Grm7 |
G |
A |
6: 111,335,387 (GRCm39) |
M599I |
probably benign |
Het |
| Hdac4 |
T |
A |
1: 91,900,512 (GRCm39) |
R54* |
probably null |
Het |
| Ice1 |
A |
G |
13: 70,740,769 (GRCm39) |
L2146S |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm39) |
V183I |
probably benign |
Het |
| Kel |
G |
A |
6: 41,675,354 (GRCm39) |
S299F |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,424,433 (GRCm39) |
I1016T |
possibly damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,130 (GRCm39) |
D395G |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,586,343 (GRCm39) |
Y140H |
possibly damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nbn |
C |
T |
4: 15,986,593 (GRCm39) |
H665Y |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,188,060 (GRCm39) |
T3416K |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,929,840 (GRCm39) |
F232S |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,427,367 (GRCm39) |
N472D |
probably damaging |
Het |
| Rfx1 |
C |
T |
8: 84,809,349 (GRCm39) |
Q225* |
probably null |
Het |
| Rnase2a |
T |
C |
14: 51,493,020 (GRCm39) |
Y115C |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,809,237 (GRCm39) |
D386V |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sgcz |
T |
A |
8: 38,107,138 (GRCm39) |
T125S |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,668,695 (GRCm39) |
S36G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,574,119 (GRCm39) |
L31P |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,820,412 (GRCm39) |
E142* |
probably null |
Het |
| Tgfbr2 |
G |
T |
9: 115,960,669 (GRCm39) |
S94R |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,348,609 (GRCm39) |
I297N |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,684 (GRCm39) |
I293T |
probably damaging |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
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 |
|
|
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 |
|
|
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'- AGGTCACTGTGATGCTGCTG -3'
(R):5'- CAAATGCAACTGCTGTGGGTG -3'
Sequencing Primer
(F):5'- CCACTTAGGCTGTATCAGGAAGTC -3'
(R):5'- CTGTGGGTGGAGGAGACC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation