Incidental Mutation 'R4332:Zfp110'
| ID |
323629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp110
|
| Ensembl Gene |
ENSMUSG00000058638 |
| Gene Name |
zinc finger protein 110 |
| Synonyms |
Nrif1, 2900024E01Rik, NRIF |
| MMRRC Submission |
041099-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.698)
|
| Stock # |
R4332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12568688-12584504 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 12578498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 136
(Y136*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004614]
[ENSMUST00000168247]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004614
AA Change: Y136*
|
| SMART Domains |
Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: Y136*
| 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
AA Change: Y136*
|
| SMART Domains |
Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: Y136*
| 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 |
0.9712 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
C |
8: 106,436,356 (GRCm39) |
I175T |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,634,406 (GRCm39) |
D646G |
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,181,782 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Best3 |
T |
A |
10: 116,838,429 (GRCm39) |
F162L |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,046,446 (GRCm39) |
M360V |
probably benign |
Het |
| Chd7 |
G |
T |
4: 8,854,143 (GRCm39) |
R1905L |
probably damaging |
Het |
| Dhx36 |
C |
T |
3: 62,392,412 (GRCm39) |
R538Q |
probably damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,315 (GRCm39) |
R161Q |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,445,903 (GRCm39) |
T159A |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,305,128 (GRCm39) |
A611V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,201 (GRCm39) |
T1507A |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
T |
C |
7: 59,805,364 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
T |
12: 24,302,095 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg |
A |
T |
7: 28,136,997 (GRCm39) |
M1L |
probably benign |
Het |
| Gpr149 |
C |
A |
3: 62,511,794 (GRCm39) |
L68F |
possibly damaging |
Het |
| Hmga2 |
T |
C |
10: 120,200,117 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
A |
3: 68,602,594 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,945,220 (GRCm39) |
G647D |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,762,611 (GRCm39) |
M1597K |
possibly damaging |
Het |
| Kyat3 |
A |
G |
3: 142,431,187 (GRCm39) |
I154M |
probably damaging |
Het |
| Npas3 |
A |
C |
12: 54,108,852 (GRCm39) |
I419L |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,414,910 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or14a259 |
A |
C |
7: 86,013,080 (GRCm39) |
V155G |
probably benign |
Het |
| Or5aq7 |
A |
G |
2: 86,938,089 (GRCm39) |
V214A |
possibly damaging |
Het |
| Or6b6 |
T |
C |
7: 106,571,354 (GRCm39) |
M66V |
probably benign |
Het |
| P2rx3 |
G |
A |
2: 84,855,205 (GRCm39) |
P84S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,819,099 (GRCm39) |
V657A |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,393 (GRCm39) |
M553V |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,583 (GRCm39) |
F178S |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,116,474 (GRCm39) |
M403K |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,102,288 (GRCm39) |
T1956M |
probably benign |
Het |
| Rbm12b1 |
G |
T |
4: 12,145,655 (GRCm39) |
K542N |
probably benign |
Het |
| Rdh8 |
C |
T |
9: 20,733,925 (GRCm39) |
A37V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,502 (GRCm39) |
T1830A |
probably damaging |
Het |
| Sardh |
G |
T |
2: 27,105,126 (GRCm39) |
Q666K |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
T |
G |
11: 87,458,730 (GRCm39) |
L368R |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,294 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
G |
A |
6: 91,700,452 (GRCm39) |
G60D |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,996 (GRCm39) |
D134G |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,831,222 (GRCm39) |
T378A |
probably benign |
Het |
| Tmprss7 |
T |
G |
16: 45,506,690 (GRCm39) |
K124T |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,425 (GRCm39) |
L1128P |
probably damaging |
Het |
| Usp32 |
C |
T |
11: 84,994,804 (GRCm39) |
C36Y |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,786,922 (GRCm39) |
T62S |
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 |
|
R2341:Zfp110
|
UTSW |
7 |
12,583,113 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- TTAGCAACTAAGCTACATGCGC -3'
(R):5'- AACGTGTATTGGGCTGCAG -3'
Sequencing Primer
(F):5'- TGGCTAGACCCTTAAGAGTCATC -3'
(R):5'- GCCACTGGTGACACAGCTTAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation