Incidental Mutation 'R2341:Zfp110'
ID |
246750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp110
|
Ensembl Gene |
ENSMUSG00000058638 |
Gene Name |
zinc finger protein 110 |
Synonyms |
Nrif1, 2900024E01Rik, NRIF |
MMRRC Submission |
040327-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.698)
|
Stock # |
R2341 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12568688-12584504 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12583113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 587
(V587A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004614]
[ENSMUST00000168247]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004614
AA Change: V587A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000004614 Gene: ENSMUSG00000058638 AA Change: V587A
Domain | Start | End | E-Value | Type |
KRAB
|
18 |
78 |
1.38e-26 |
SMART |
SCAN
|
158 |
269 |
1.48e-39 |
SMART |
KRAB
|
284 |
351 |
2.94e-12 |
SMART |
low complexity region
|
424 |
438 |
N/A |
INTRINSIC |
ZnF_C2H2
|
688 |
710 |
1.43e-1 |
SMART |
ZnF_C2H2
|
716 |
738 |
2.24e-3 |
SMART |
ZnF_C2H2
|
744 |
766 |
2.27e-4 |
SMART |
ZnF_C2H2
|
772 |
794 |
6.32e-3 |
SMART |
ZnF_C2H2
|
800 |
822 |
2.75e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137718
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168247
AA Change: V587A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000132060 Gene: ENSMUSG00000058638 AA Change: V587A
Domain | Start | End | E-Value | Type |
KRAB
|
18 |
78 |
1.38e-26 |
SMART |
SCAN
|
158 |
269 |
1.48e-39 |
SMART |
KRAB
|
284 |
351 |
2.94e-12 |
SMART |
low complexity region
|
424 |
438 |
N/A |
INTRINSIC |
ZnF_C2H2
|
688 |
710 |
1.43e-1 |
SMART |
ZnF_C2H2
|
716 |
738 |
2.24e-3 |
SMART |
ZnF_C2H2
|
744 |
766 |
2.27e-4 |
SMART |
ZnF_C2H2
|
772 |
794 |
6.32e-3 |
SMART |
ZnF_C2H2
|
800 |
822 |
2.75e-3 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
PHENOTYPE: Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
G |
15: 59,888,212 (GRCm39) |
V76A |
possibly damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Anapc4 |
T |
C |
5: 52,999,279 (GRCm39) |
|
probably benign |
Het |
Anxa4 |
A |
G |
6: 86,720,135 (GRCm39) |
S144P |
probably benign |
Het |
Bcr |
A |
G |
10: 74,966,944 (GRCm39) |
E517G |
probably damaging |
Het |
Ccdc57 |
T |
C |
11: 120,751,349 (GRCm39) |
E907G |
probably benign |
Het |
Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
Dock6 |
A |
G |
9: 21,750,782 (GRCm39) |
|
probably benign |
Het |
Dock8 |
A |
G |
19: 25,177,757 (GRCm39) |
K2031E |
probably damaging |
Het |
Gm5444 |
T |
C |
13: 4,884,344 (GRCm39) |
|
noncoding transcript |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Ifna16 |
A |
G |
4: 88,594,565 (GRCm39) |
S177P |
probably damaging |
Het |
Ino80d |
T |
C |
1: 63,104,985 (GRCm39) |
N364D |
possibly damaging |
Het |
Ltbp2 |
T |
C |
12: 84,855,937 (GRCm39) |
T769A |
probably benign |
Het |
Ms4a20 |
T |
A |
19: 11,083,157 (GRCm39) |
M88L |
probably benign |
Het |
Mug1 |
T |
C |
6: 121,861,588 (GRCm39) |
V1350A |
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,469,987 (GRCm39) |
S389P |
probably damaging |
Het |
Or10ag57 |
A |
T |
2: 87,218,084 (GRCm39) |
I12F |
probably benign |
Het |
Or4c11b |
A |
G |
2: 88,624,989 (GRCm39) |
N88D |
probably benign |
Het |
Or8h8 |
T |
C |
2: 86,752,982 (GRCm39) |
K298R |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,478,829 (GRCm39) |
I28F |
possibly damaging |
Het |
Prkce |
C |
A |
17: 86,781,870 (GRCm39) |
P180T |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,723,909 (GRCm39) |
H1995R |
possibly damaging |
Het |
Rnf144b |
A |
G |
13: 47,373,976 (GRCm39) |
K58E |
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,622,851 (GRCm39) |
R651G |
probably damaging |
Het |
Scel |
A |
T |
14: 103,845,606 (GRCm39) |
L580F |
possibly damaging |
Het |
Scn4b |
G |
A |
9: 45,059,127 (GRCm39) |
V133M |
probably damaging |
Het |
Sipa1l3 |
T |
C |
7: 29,077,060 (GRCm39) |
N904S |
probably damaging |
Het |
Sun5 |
A |
G |
2: 153,709,422 (GRCm39) |
|
probably benign |
Het |
Tanc2 |
T |
C |
11: 105,725,877 (GRCm39) |
V347A |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,937,957 (GRCm39) |
Y197C |
probably damaging |
Het |
Usp30 |
C |
T |
5: 114,249,241 (GRCm39) |
R182* |
probably null |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vps35 |
T |
C |
8: 86,001,443 (GRCm39) |
|
probably benign |
Het |
Xkr7 |
G |
A |
2: 152,896,318 (GRCm39) |
V391M |
possibly damaging |
Het |
Ythdf3 |
A |
T |
3: 16,257,379 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zfp110 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00705:Zfp110
|
APN |
7 |
12,583,086 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01094:Zfp110
|
APN |
7 |
12,583,723 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01576:Zfp110
|
APN |
7 |
12,583,598 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01859:Zfp110
|
APN |
7 |
12,583,467 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02003:Zfp110
|
APN |
7 |
12,583,832 (GRCm39) |
nonsense |
probably null |
|
R0122:Zfp110
|
UTSW |
7 |
12,582,524 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0357:Zfp110
|
UTSW |
7 |
12,570,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R0383:Zfp110
|
UTSW |
7 |
12,583,187 (GRCm39) |
missense |
probably benign |
0.00 |
R0725:Zfp110
|
UTSW |
7 |
12,570,290 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0926:Zfp110
|
UTSW |
7 |
12,583,808 (GRCm39) |
nonsense |
probably null |
|
R1146:Zfp110
|
UTSW |
7 |
12,580,721 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1146:Zfp110
|
UTSW |
7 |
12,580,721 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1472:Zfp110
|
UTSW |
7 |
12,582,468 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1663:Zfp110
|
UTSW |
7 |
12,582,569 (GRCm39) |
missense |
probably benign |
0.08 |
R1975:Zfp110
|
UTSW |
7 |
12,582,429 (GRCm39) |
missense |
probably benign |
0.00 |
R2046:Zfp110
|
UTSW |
7 |
12,583,349 (GRCm39) |
missense |
probably benign |
0.00 |
R2296:Zfp110
|
UTSW |
7 |
12,583,467 (GRCm39) |
missense |
probably damaging |
0.97 |
R4332:Zfp110
|
UTSW |
7 |
12,578,498 (GRCm39) |
nonsense |
probably null |
|
R5892:Zfp110
|
UTSW |
7 |
12,582,405 (GRCm39) |
missense |
probably benign |
0.00 |
R5955:Zfp110
|
UTSW |
7 |
12,582,672 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6083:Zfp110
|
UTSW |
7 |
12,578,602 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6115:Zfp110
|
UTSW |
7 |
12,583,701 (GRCm39) |
missense |
probably damaging |
0.98 |
R7187:Zfp110
|
UTSW |
7 |
12,583,753 (GRCm39) |
nonsense |
probably null |
|
R7455:Zfp110
|
UTSW |
7 |
12,581,984 (GRCm39) |
missense |
probably benign |
|
R7570:Zfp110
|
UTSW |
7 |
12,583,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7727:Zfp110
|
UTSW |
7 |
12,582,922 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7895:Zfp110
|
UTSW |
7 |
12,571,020 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8179:Zfp110
|
UTSW |
7 |
12,578,498 (GRCm39) |
nonsense |
probably null |
|
R8703:Zfp110
|
UTSW |
7 |
12,582,888 (GRCm39) |
missense |
probably benign |
|
R9207:Zfp110
|
UTSW |
7 |
12,582,485 (GRCm39) |
missense |
probably benign |
0.33 |
R9794:Zfp110
|
UTSW |
7 |
12,578,521 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCAGAAAGGCCCTGAATG -3'
(R):5'- TACAATTGTTGGCTCTCCTGAG -3'
Sequencing Primer
(F):5'- CCCTGAATGGCATAAAGTTGG -3'
(R):5'- CTGAGCCTTCCCACATCAG -3'
|
Posted On |
2014-10-30 |