Incidental Mutation 'R1146:Zfp110'
ID |
165107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp110
|
Ensembl Gene |
ENSMUSG00000058638 |
Gene Name |
zinc finger protein 110 |
Synonyms |
Nrif1, 2900024E01Rik, NRIF |
MMRRC Submission |
039219-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.698)
|
Stock # |
R1146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12568688-12584504 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 12580721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004614]
[ENSMUST00000004614]
[ENSMUST00000168247]
[ENSMUST00000168247]
[ENSMUST00000168247]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000004614
|
SMART Domains |
Protein: ENSMUSP00000004614 Gene: ENSMUSG00000058638
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 |
probably null
Transcript: ENSMUST00000004614
|
SMART Domains |
Protein: ENSMUSP00000004614 Gene: ENSMUSG00000058638
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 null
Transcript: ENSMUST00000168247
|
SMART Domains |
Protein: ENSMUSP00000132060 Gene: ENSMUSG00000058638
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 |
probably null
Transcript: ENSMUST00000168247
|
SMART Domains |
Protein: ENSMUSP00000132060 Gene: ENSMUSG00000058638
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 |
probably null
Transcript: ENSMUST00000168247
|
SMART Domains |
Protein: ENSMUSP00000132060 Gene: ENSMUSG00000058638
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 |
0.8337 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.5%
- 10x: 95.4%
- 20x: 88.7%
|
Validation Efficiency |
98% (44/45) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,679,795 (GRCm39) |
V1848E |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,727,343 (GRCm39) |
K158E |
probably damaging |
Het |
Arrdc4 |
T |
A |
7: 68,389,756 (GRCm39) |
E356D |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,423,591 (GRCm39) |
N246S |
probably damaging |
Het |
Ccdc150 |
A |
T |
1: 54,404,130 (GRCm39) |
|
probably benign |
Het |
Ctsj |
G |
A |
13: 61,150,312 (GRCm39) |
P230L |
probably benign |
Het |
Dync1i2 |
C |
T |
2: 71,058,164 (GRCm39) |
|
probably benign |
Het |
Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Frg1 |
A |
G |
8: 41,864,254 (GRCm39) |
|
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,206 (GRCm39) |
S217C |
possibly damaging |
Het |
Gaa |
G |
T |
11: 119,165,730 (GRCm39) |
R81L |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,074,341 (GRCm39) |
V368A |
probably benign |
Het |
Gm10774 |
T |
C |
2: 126,551,392 (GRCm39) |
Y29C |
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm39) |
N545K |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,796,444 (GRCm39) |
S1939P |
probably benign |
Het |
Ifnk |
T |
C |
4: 35,152,231 (GRCm39) |
I53T |
probably benign |
Het |
Iqub |
G |
A |
6: 24,505,627 (GRCm39) |
L94F |
possibly damaging |
Het |
Kpna1 |
C |
T |
16: 35,853,749 (GRCm39) |
R460* |
probably null |
Het |
Masp1 |
T |
C |
16: 23,310,865 (GRCm39) |
E189G |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,250 (GRCm39) |
I105V |
probably benign |
Het |
Mpi |
A |
G |
9: 57,452,472 (GRCm39) |
|
probably benign |
Het |
Msh2 |
C |
A |
17: 87,987,488 (GRCm39) |
D209E |
probably benign |
Het |
Nsf |
G |
A |
11: 103,719,364 (GRCm39) |
T646I |
probably damaging |
Het |
Or10g9b |
A |
T |
9: 39,917,390 (GRCm39) |
V285D |
possibly damaging |
Het |
Or4c10b |
C |
T |
2: 89,711,550 (GRCm39) |
P127S |
probably damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,329 (GRCm39) |
S76T |
possibly damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,612 (GRCm39) |
H244Y |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,722,374 (GRCm39) |
I327F |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,682,552 (GRCm39) |
D832G |
probably damaging |
Het |
Pax5 |
G |
T |
4: 44,697,512 (GRCm39) |
|
probably benign |
Het |
Pfkfb4 |
A |
G |
9: 108,836,794 (GRCm39) |
E163G |
probably benign |
Het |
Phc1 |
T |
C |
6: 122,300,416 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
Ppfia3 |
A |
C |
7: 45,001,639 (GRCm39) |
D424E |
probably benign |
Het |
Prss16 |
A |
G |
13: 22,191,138 (GRCm39) |
|
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,178,711 (GRCm39) |
|
probably null |
Het |
Rexo1 |
C |
T |
10: 80,380,239 (GRCm39) |
S919N |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,510,032 (GRCm39) |
N1152D |
probably damaging |
Het |
Sel1l3 |
A |
T |
5: 53,274,445 (GRCm39) |
F1012I |
possibly damaging |
Het |
Sema4c |
A |
G |
1: 36,589,646 (GRCm39) |
V539A |
probably benign |
Het |
Sf3b5 |
A |
G |
10: 12,884,575 (GRCm39) |
E70G |
possibly damaging |
Het |
Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 155,940,483 (GRCm39) |
V263A |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,813,733 (GRCm39) |
E380G |
probably damaging |
Het |
Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
Zfp335 |
G |
A |
2: 164,738,043 (GRCm39) |
A856V |
probably benign |
Het |
Zfp652 |
G |
A |
11: 95,640,608 (GRCm39) |
E178K |
possibly damaging |
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 |
|
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 |
R2341:Zfp110
|
UTSW |
7 |
12,583,113 (GRCm39) |
missense |
probably benign |
0.04 |
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'- TCCAAGTGGTCCAGGCAGAGTAAC -3'
(R):5'- TTCCACATAGGCCCAGGAACTCAG -3'
Sequencing Primer
(F):5'- TCCAGGCAGAGTAACACACTG -3'
(R):5'- TAAAGTGGCCTATCTTCTGTGAAGC -3'
|
Posted On |
2014-03-28 |